Living with Kennedy's Disease ... until there is a cure

Reprogramming Skin Cells Into Induced Stem Cells

2012-01-31T13:07:00.001-05:00

Ed, our resident biology guru, sent me the following article from BBC News (http://www.bbc.co.uk/news/health-16788809). He cautions that this research is still in its infancy, however, in regards to a potential treatment for Kennedy’s Disease.

“As is always the case with stem cell research, one needs to understand that while this is an important piece of work, we are still years (and years) away from therapy. In any case, I have attached the actual paper. This is also interesting as several of the attendees at the 2010 KDA conference donated skin cells for just such a project (and I believe that NIH has something similar going on).”

Skin transformed into brain cells

By James Gallagher, Health and Science Reporter, BBC News

Skin cells have been converted directly into cells which develop into the main components of the brain, by researchers studying mice in California.

The experiment, reported in Proceedings of the National Academy of Sciences, skipped the middle "stem cell" stage in the process. The researchers said they were "thrilled" at the potential medical uses. Far more tests are needed before the technique could be used on human skin.

Stem cells, which can become any other specialist type of cell from brain to bone, are thought to have huge promise in a range of treatments. Many trials are taking place, such as in stroke patients or specific forms of blindness.

One of the big questions for the field is where to get the cells from. There are ethical concerns around embryonic stem cells and patients would need to take immunosuppressant drugs as any stem cell tissue would not match their own.

An alternative method has been to take skin cells and reprogram them into "induced" stem cells. These could be made from a patient's own cells and then turned into the cell type required, however, the process results in cancer-causing genes being activated.

Direct approach

The research group, at the Stanford University School of Medicine in California, is looking at another option - converting a person's own skin cells into specialist cells, without creating "induced" stem cells. It has already transformed skin cells directly into neurons.

This study created "neural precursor" cells, which can develop into three types of brain cell: neurons, astrocytes and oligodendrocytes. These precursor cells have the advantage that, once created, they can be grown in a laboratory into very large numbers. This could be critical if the cells were to be used in any therapy.

Brain cells and skin cells contain the same genetic information, however, the genetic code is interpreted differently in each. This is controlled by "transcription factors".

The scientists used a virus to infect skin cells with three transcription factors known to be at high levels in neural precursor cells. After three weeks about one in 10 of the cells became neural precursor cells.
Lead researcher Prof Marius Wernig said: "We are thrilled about the prospects for potential medical use of these cells. We've shown the cells can integrate into a mouse brain and produce a missing protein important for the conduction of electrical signal by the neurons. More work needs to be done to generate similar cells from human skin cells and assess their safety and efficacy."

Dr Deepak Srivastava, who has researched converting cells into heart muscle, said the study: "Opens the door to consider new ways to regenerate damaged neurons using cells surrounding the area of injury."

Pencil neck

2012-01-29T18:25:00.001-05:00

I am getting a pencil neck. The atrophy in the neck region is now evident. I didn’t notice it a couple of years ago, but it has become more prominent within the last nine months. And, with the atrophy I noticed that many evenings and occasionally even in the afternoon my neck muscles just do not want to hold up my head. Sometimes I have cramping or pain, but most of the time it is just weakness that I experience.

I have seen this condition in several others with Kennedy’s Disease and my brother has experienced the problem for the last ten years or so. For some reason I thought I was immune. I continue to perform neck exercises every day and they seem to help, but something has happened recently that I cannot explain.

I attribute some of the problem to working too many hours on the computer. I know that several days this winter I spent more than four hours at the PC without any breaks. A few days I probably spent close to eight hours working at the PC. I found if I spend less time at the computer and schedule more breaks, the neck fatigue is not evident or not quite as bad. This last week I spent an hour or so mid-afternoon in my recliner using a neck pillow (dog-bone). It seemed to help.

My questions for you are:
1. Are you having any neck weakness issues?
2. If so, is there anything that you have found that helps?

I look forward to hearing from you.

Follow-up on earlier article on RNA defect repair

2012-01-26T13:13:00.001-05:00

Last Thursday I published information on some recent Kennedy’s Disease research that looked promising even though it had not been verified by another lab. The article, “Scientists identify compound that can help repair toxic RNA defect,” was interesting even though I didn’t understand most of it.

I asked Ed, our resident biology professor, to review the study and comment on it when he had a chance. Below are Ed’s comments.

It is a different approach overstates the case with regard to treatment of the various CAG repeat diseases.

As you may remember, it is generally thought that the symptoms of Kennedy’s Disease (KD) (and other CAG diseases) is due to a misfolded protein and that the cells no longer have the ability to remove these proteins and this somehow causes cells to die. This paper is based on a different proposed mechanism for cell death. The problem is not the protein but the mRNA. To make a protein, one needs the instructions on the order of amino acids for that particular protein. Just like a dictionary tells you the order of letters in a word, DNA (our genes) tells you the order of amino acids in any protein. To make a protein, one therefore needs these instructions. Cells get the instructions by looking up the instructions for a protein (as you would look up a word in the dictionary) and makes a copy of the needed instructions. This copy is made out of RNA is known as m (or messenger)RNA (see * below). The experiments in this paper are based on the notion that it is actually the mRNA that is somehow causing the cell death and not the resultant protein. The idea is the mutant mRNA binds to a protein called MBNL-1 and it is the sequestering of this protein that ultimately leads to cell death. They found a way to prevent the mutant mRNA to bind to MBNL-1 and thus, if this is indeed the reason for cell death, block cell death. BTW, they did not show that this chemical stops cell death just the mRNA-protein interaction. Since it is not generally accepted that the mRNA is at fault in KD, it really is a stretch to call this a breakthrough (or even an advancement) that will lead to a treatment.

This is a difficult paper for nonscientists to discuss as the suppositions are not generally accepted and they really did not show any cell saving affects - yet the site you forwarded seems to indicate a major breakthrough. As you may know by now, I am not a fan of such publicity as it leads to unfulfilled and unrealistic hope. The work may end up being very important but we are a long way from it being helpful to us and that is certainly not clear in this press release.

(*) From Wikipedia: Messenger RNA (mRNA) is a molecule of RNA that encodes a chemical "blueprint" for a protein product. mRNA is transcribed from a DNA template, and carries coding information to the sites of protein synthesis: the ribosomes. Here, the nucleic acid polymer is translated into a polymer of amino acids: a protein. In mRNA as in DNA, genetic information is encoded in the sequence of nucleotides arranged into codons consisting of three bases each. Each codon encodes for a specific amino acid, except the stop codons, which terminate protein synthesis. This process requires two other types of RNA: Transfer RNA (tRNA) mediates recognition of the codon and provides the corresponding amino acid, whereas ribosomal RNA (rRNA) is the central component of the ribosome's protein-manufacturing machinery.

Eleven Month Dutasteride Update

2012-01-24T10:05:00.001-05:00

The fifteenth was the eleventh month anniversary of taking dutasteride. I continue to feel good and am having no known side effects. As I mentioned in an earlier post, my doctor believes I should continue taking the medication.

The biggest change this last month was the reduction in my long exercise routine. I was no longer enjoying it as much as before (a little bored). This last month I averaged 97 minutes for my long exercises; down from 120 minutes. I have seen no change in strength because of the reduction, but I am enjoying the program much more again. I am looking forward to exercising again and when I finish I feel good about it. My short routine continues to be 15-20 minutes on the in-between days.

As I mentioned in an earlier post, I came down with some kind of bug (cough, chills, weakness and loss of appetite). I was over it in about five days, but a slight weakness remained for another week or so. It was especially noticeable in the legs. It felt good to wake up one morning and not notice the weakness.

Results to Date
So, after eleven months, I believe I am no weaker than I was a year ago and maybe even a little stronger. Or, playing the role of the contrarian, if I am weaker, it is not noticeable (and that is fine with me).

After I write my one year anniversary review next month, I plan on only writing quarterly dutasteride reviews or if there are any significant changes.

NIH Exercise Trial
I am also hoping that the NIH clinical trial on exercise is completed this year and they have some positive news on what exercises are the most appropriate and beneficial for anyone living with Kennedy’s Disease. I am not saying I will change my routine, but if there is a significant advantage to making a change I am open to suggestions.

“Life is often out of our control”

2012-01-23T11:58:00.001-05:00

I read this article today at Scotsman.Com because Kennedy’s Disease was mentioned. The title was: On Christmas Day I smiled but I couldn’t help but look at Vanessa and wonder if this was her last Christmas - it was heartbreaking.

The story is about a couple’s daughter who was diagnosed with cancer. The subject struck too close to home.

The article caught my interest from the beginning with this lead: “The only hope Connie and Chris Riddle have of saving their daughter from a rare form of cancer is treatment in the USA costing £500,000. Maria Croce meets a couple determined to give their little girl the best chance they can.”

I have mentioned before that there are far worse things than Kennedy’s Disease and cancer is always near the top of the list. And, even worse, it attacks your child. “Just a few days earlier life had seemed to be getting back to normal. It looked like Vanessa had beaten a rare form of childhood cancer, neuroblastoma, after extensive treatment, because she’d been in remission for 16 months. But just before Christmas a scan revealed the cancer was back.”

“Connie had already realized the fragility of life after her father was in 1995 diagnosed with muscle-wasting Kennedy’s Disease and spent his later years in a wheelchair until he died, four years ago, at the age of 72. It is completely unrelated to Vanessa’s cancer – but Connie discovered she is a carrier of the hereditary disease that only affects males in adulthood. “I chose not to have the tests when I was pregnant with Olivia or Vanessa,” she says. “I thought even if I’d discovered I was carrying a baby boy with the condition I would still have had him.”

Yes, much of our life is out of our control

Those of us living with Kennedy’s Disease know that some things in life are just totally out of our control. At the same time, there is hardly anything worse than the totally helpless feeling that overwhelms your body, mind and spirit when your child is diagnosed with cancer. I know, because at two years old, my son was diagnosed with an aggressive (malignant) brain tumor that was strangulating his upper vertebras causing seizures.

Fortunately, they caught it early, we had a great neurosurgeon, and after surgery and 33 massive cobalt treatments the doctors felt they got it all. Five years later he was given a clean bill of health. My son is now forty-one and even though he doesn’t remember much about that time in his life, it is still a vivid memory to me.

Scientists identify compound that can help repair toxic RNA defect

2012-01-19T16:16:00.001-05:00

I saw this article and the news release yesterday. I am hoping Ed, our resident research guru, will have some comments on the applicability of this research in helping to find a treatment for Kennedy’s Disease.

_____________________

Published on January 18, 2012 at 12:00 AM
Scientists from the Florida campus of The Scripps Research Institute have identified a compound that can help repair a specific type of defect in RNA, a type of genetic material. The methods in the new study could accelerate the development of therapeutics to treat a variety of incurable diseases such as Huntington's disease, Spinocerebellar ataxia, and Kennedy disease.

The new study, published January 17, 2012 in an advance, online edition of the journal ACS Chemical Biology, describes a method to find compounds that target defective RNAs, specifically RNA that carries a structural motif known as an "expanded triplet repeat." The triplet repeat, a series of three nucleotides repeated many more times than normal in the genetic code of affected individuals, has been associated with a variety of neurological and neuromuscular disorders.

"For a long time it was thought that only the protein translated from this type of RNA was toxic," said Matthew Disney, an associate professor at Scripps Florida who led the new study. "But it has been shown recently that both the protein and the RNA are toxic. Our discovery of a small molecule that binds to RNA and shuts off its toxicity not only further demonstrates that the RNA is toxic but also opens up new avenues for therapeutic development because we have clearly demonstrated that small molecules can reverse this type of defect."

In the new research, the scientists used a query molecule called 4', 6-diamidino-2-phenylindole (DAPI) as a chemical and structural template to find similar but more active compounds to inhibit a toxic CAG triplet repeat. One of these compounds was then found effective in inhibiting the RNS toxicity of the repeat in patient-derived cells, which demonstrated an improvement in early-stage abnormalities.

"The toxic RNA defect actually sucks up other proteins that play critical roles in RNA processing, and that is what contributes to these various diseases," Disney said. "Our new compound targets the toxic RNA and inhibits protein binding, shutting off the toxicity. Since the development of drugs that target RNA is extremely challenging, these studies can open up new avenues to exploit RNA drug targets that cause a host of other RNA-mediated diseases."

Source: http://www.scripps.edu/news/press_releases/20120117disney.html

No matter how old we are ...

2012-01-17T18:41:00.001-05:00

… we still need our shots.

Jodi Helmer wrote in the Costco Connection a few months ago a good article on the need for adult vaccinations. The article said that approximately 50,000 adults die each year in the United States from vaccine-preventable diseases. Deborah Wexler, M.D., executive director of the Immunization Action Coalition, commented, “There is a lack of awareness about the need for adults to be vaccinated and which vaccines are required.

Three kinds of vaccines:

Childhood Vaccines
New Vaccines
Age-appropriate Vaccines

Childhood Vaccines:

Booster shots are often needed for MMR, tetanus/diphtheria/pertussis, meningococcal disease and pneumonia mococcal disease. It is also possible that an important childhood immunization, i.e., chicken pox, was missed. The good news is that if you cannot find your childhood medical records (an how many people can), there is no harm in having the vaccination again, says Raymond Strikas, M.D. For example, adults should have a tetanus booster every ten years.

New Vaccines:

The article also commented that there is a good chance that new vaccines have been developed or recommended for adults since your last immunization. It used the example of hepatitis B because it was not part of the last schedule in 1991. The zoster vaccine for protection against shingles has only become available in the last five years.

Age-appropriate Vaccines:

Ms. Helmer emphasized that being up to date on immunizations is especially important as we get older because our immune system weakens. The zoster vaccine is recommended for all adults over 50 as well as the MMR vaccine. Anyone over 65 should have the pneumococcal immunization to protect against bacterial pneumonia. For any of us with Kennedy’s Disease, it is especially important to have the pneumonia and flu shots because of our condition.

Dr. Strikas believes, “There is no reason to risk illness, possible hospitalization and sometimes death when there are effective vaccines available.

And, don’t forget to ask for a sucker afterwards.

Today I am thankful for what little strength I still have.

2012-01-16T12:18:00.001-05:00

Last Friday I had a good 100 minute long morning exercise program. I did not notice anything really different until early afternoon when I felt slightly weaker. I thought that was a little strange, but didn’t think anything more about it. By evening I was feeling even weaker and began to wonder what was happening. My neck was very weak and holding it up became a burden.

I woke up Saturday morning feeling even weaker. As the day went on I had more problems just performing ordinary tasks. By evening my legs and neck were very weak and my arms were somewhat weaker.

Sunday morning I felt a little stronger so I went about my morning routines. By 10:00 I was in my recliner with a blanket and fell asleep around 10:30. After a two hour nap I felt a little better so I took my dog for his walk. Immediately after returning I was back in my chair with a blanket and took an hour long nap. The naps seemed to help. My fever broke and I felt a little stronger by bedtime. The only benefit to this was that I was able to watch a lot of football this weekend without feeling guilty.

I woke up coughing several times during the night, but felt better this morning. I performed a 95 minute workout and it went very well this morning. It is noon and my muscles are beginning to ache a little, but I still feel so much better than the last couple of days. I have no idea what it was that caused the fever, extreme weakness and coughing, but I believe I am on the mend again.

Yes, I complain about my weakness as this disease progresses, but today I am thankful for what little strength I still have. You never know how much you appreciate something until you lose it.

The extremely excruciating time needed for development of a treatment

2012-01-12T11:50:00.001-05:00

Quest Magazine had another great article this month. “Why Does It Take So Long to Go from Mouse to Man” explains why the pace of research seems to be unreasonably slow. I would recommend you read it because it gives a good layman’s explanation of the process. Many of the steps mentioned in the process have been discussed at the KDA conferences by the researchers, but this article lays out the steps, requirements and checks in the process of taking a treatment from mouse model to market.

In 2010 I wrote two articles on the subject of why everything takes so long within the research community.
· “The Clock is Ticking, So What is the Holdup”
· “The Clock is Ticking – Another Perspective”

And, in several other articles I mentioned delays or timelines that often seem ridiculous to those of us living with a progressive disease. I believe a prerequisite for researchers is an abundance of patience ... something I do not possess.

Dr. Fischbeck at NIH has been a source of hope for many of us with Kennedy’s Disease. His perspective reflects one of infinite patience. He has mentioned more than once the benefits of taking small steps forward rather than rushing something and then finding out it doesn’t work or the side effects are serious. He has also discussed some of the FDA requirements that cannot be shortened for several reasons, but primarily for safety concerns.

Read the article. It won’t change anything other than perhaps your perspective.

What if I could promise you a cure?

2012-01-10T08:19:00.001-05:00

Sunday night I watched a ‘60 Minutes’ investigation called, “Stem Cell Fraud.” It was a follow-up on a two part report that they did in 2010.

All of us living with Kennedy’s Disease remember when we were told by our doctor there is no treatment or cure for this disease. And, for people who have little more than hope to live for, a promise of a potential treatment or cure means everything. And, that is the reason we should always error on the side of caution. I am aware of one man with Kennedy’s Disease that has been taking stem cell injections for over a year in hopes of reversing the progression.

Stem Cell research has come a long way in the last ten year. It is still something, however, we cannot hang our hat on today, but there is promise for the future. I can understand that at some point desperation sets in and a person is willing to try anything in hopes that something … anything will work.

Unfortunately, there are those criminal elements that pray upon these individuals and their families. They are selling ‘hope’ in a bottle or in an injection. The ’60 Minutes’ investigations (the video links are below) exposes this seedy world where promises are made and thousands of dollars are exchanged in the hope that something will work. The reporter comments in the video that if you search the internet, you will find dozens of web sites that claim they have cures for almost every disease. The 2010 investigation included people living with ALS who went to Mexico for stem cell treatments. The 2011 investigation follows parents whose son has Cerebral Palsy. Both reports are around fifteen minutes long and well worth the viewing.

Ed Meyertholen, the KDA’s resident research guru, has been cautioning us who are living with Kennedy’s Disease to not fall for the stem cell scam because there is currently no treatment or cure.

Your neurologist, the FDA and the National Institute of Health (NIH) are excellent resources when you are considering alternative forms of therapy. Some forms might be beneficial while others may be harmful. Discuss the potential opportunity with these professionals before embarking upon any new treatment.

And, remember, if it sounds too good to be true;

it probably is!

The ‘60 Minutes’ Investigation called “Stem Cell Fraud”

The ‘60 Minutes’ 2010 two part video on a Stem Cell investigation

My annual checkup

2012-01-08T14:41:00.001-05:00

I had my annual checkup this last week. My doctor commented he would never get rich off me because I only see him once a year.

The Good News:

I am as healthy as a horse

The Bad News:

I just can’t run like one

CPK is good:

My CPK is up slightly this year (230), but is still much better than the days where it ran 800-1,000. This is positive news since I increased the number of reps and length of my exercise program last year. It appears it is not doing any harm.

I had a complete blood workup. Everything looks good including my HDL, LDL and cholesterol as well as my blood pressure and pulse. We discussed my neuropathy in my lower legs and feet. My doctor commented that when I was ready, we could discuss possible treatments that might help.

Dutasteride:

And, based upon the results over the last eleven months, I will continue taking dutasteride this year. In reviewing my current condition versus last year, it appears I am the same or better except for the occasional neck weakness I have encountered this year.

Not bad for a guy 65 ‘39’ years old who is going to be a great grandpa any day now.

What “living with” means to me

2012-01-05T10:45:00.001-05:00

The word ‘living’ has an abundance of meanings, but when I write “living with Kennedy’s Disease” I mean “the pursuit of a certain lifestyle.” In other words, you are still enjoying life as best you can considering your current situation.

Often when a man is first diagnosed with Kennedy’s Disease he goes through the denial and the ‘why me’ phases. If he cannot come to grips with the reality of his situation, he might shut down ... partially give up. In my opinion, this is one of the worst things that can happen to him.

This blog is named, ‘Living with Kennedy’s Disease’ for a reason. It is important to find a level of acceptance that allows you to continue to enjoy the life you have been given. Many times I have mentioned the blessing and curse of a slowly progressive disorder. The curse is that when you finally accept your current condition, the disease progresses enough that you have to accept your latest and newest loss of strength and capabilities. The blessing is that the condition ‘slowly’ progresses giving you ample time to adjust for the changes that are occurring.

Living with Kennedy’s Disease means finding that balance within yourself that allows you to still accept your condition, but also to live your life to the fullest. You do that by not giving up or giving in to the mental and emotional aspects of the disease. You find a way ‘to live’ by understanding that life continues to go on whether you choose to participate or not.

Gratitude Journal

Comments like, “what’s the use” or “it doesn’t matter anyway” are not used, no matter how frustrated you are at the moment. To help you ‘live’ a more fulfilling life, I recommend starting a ‘gratitude journal’. It can be as simple as writing something on a piece of paper at bedtime or using a tablet or binder for your thoughts. The tools are not important. It is the process that matters.

Whenever you are feeling a little down or frustrated or outright angry, jot down the things in your life you are thankful for. It could be your wife and children (if you are married) as well as your family and friends. List their names and also write down something about them that you are thankful for. It could be your pets, your work, your understanding boss, the house you own, where you live, etc. Just write it down!

The key is to draw your thoughts away from the negative and replace them with positive ones. This shouldn’t be a hokey (fake) list and comments; it should come from the heart.

I know that most of my readers will never give this gratitude journal a try, but for those that do, they might find that it makes a subtle yet positive difference in their life.

My daily routine ...

2012-01-03T10:41:00.001-05:00

After my 10 month update on Dutasteride article, I was asked the following: “It would be great to know what your daily activity capacity is. Although your exercise routine is 120 minutes it is hard to know what that means. Can you speak in terms of your daily function? Things like can opening, walking distance, stairs, driving, use of motorized chair or assist devices.”

I like to consider myself fairly active considering everything. I turn 65 in a month and like to stay engaged in all kinds of activities. What follows is a general description of most days.

Exercise:

Mondays, Wednesdays and Fridays I have my long exercise program (90-120 minutes). On the other days I have a short exercise routine (15-20 minutes). I find that exercising each morning helps keep my strength levels more consistent and I do not experience joint or muscle pain as often. Both routines are broken down into lower body, upper body, stretching and face/tongue/throat/breathing exercises.

Throughout each day I will perform some quick exercises (1-2 minutes apiece) ... especially swallowing, tongue, breathing and facial exercises as well as some stretches.

Other Daily Activities:

Transferring - I use a wheelchair for mobility because of some serious falls in the past (i.e., broken bones). I transfer from the chair dozens of times a day (to and from the easy chair, office chair, golf cart, bed, toilet, etc.). I also stand for a few minutes whenever I can especially in the kitchen.

Walking – I can still walk short distances, but always try to have a wall or railing to hold onto. A walker is helpful when something isn’t readily available. (Note: I error on the side of caution)

Stairs – I can no longer ‘safely’ climb stairs.

Opening Cans - I try to open everything (cans and bottles) with my hands and if that doesn’t work I use a kitchen-aid device that provides better leverage. I try to use my arms and hands as much as possible for lifting, grasping, holding, etc.

Walking the Dog – I don’t actually walk. I ride a golf cart and my dog walks. We normally get out for four half-hour walks a day (around the lake). This one activity allows me to interact with neighbors and the wildlife (of which there is plenty). I take time each day to observe nature and find it very rewarding.

Driving – I drive everywhere and enjoy the library, dinner with friends, shopping, etc.

Staying Active and Engaged - I am an ‘active’ member of the Chattanooga Writers Guild (two meetings a month). Family activities, including get-togethers, are important to me. I enjoy writing and am in the process of rewriting a 95,000 word novel as well as continuing to write short stories. I support other writers by reading, commenting and editing their stories. I love to read and normally have one-to-two books going at a time. I use the internet and phone to ‘actively’ stay in touch with family and friends. I also enjoy working Sudoku puzzles.

The KDA – The Kennedy’s Disease Association keeps me involved and active. Between answering emails, writing letters, keeping the website updated, my involvement on the board and many other KDA related activities, my days are usually full and fulfilling.

This Blog - “Living with Kennedy’s Disease” is something else that takes several hours a week.

Meditation – I try to meditate most days.

Chris, I have probably forgot a few things, but I believe you get the idea. I would like to be a little more involved in some other activities … like hiking and sailing, but …

Should anyone have any further questions, please let me know.

My tip for the day ...

“Stay engaged with the world around you” ... do not let living with Kennedy’s Disease slow you down any more than it has to.

Courage to face the future

2012-01-01T10:41:00.001-05:00

One of my favorite blogs is Goodlife Zen. In her early November article Mary Jaksch defines courage as ‘the ability to face danger, difficulty, uncertainty, or pain without being overcome by fear or being deflected from a chosen course of action.’

The article lists seven tips to increase your courage. I felt many of these are appropriate for those of us living with Kennedy’s Disease and added a few comments to her bullet points.

Tip #1: Start something new.

It’s hard to be a beginner again. It takes courage to learn something new and to be a newbie in amongst more experienced people. [As our abilities to perform many physical functions wane, it is important to try other things that can still be enjoyed and accomplished. Start a new hobby. Join a club that organizes events that you enjoy. Anything new will challenge you mentally. And a wonderful side benefit is gaining new friends with similar interests.]

Tip #2: Go somewhere you’ve never been before.

Too often our life is on a track that has little variation. Do you always take the same way home from work? Or go to the same restaurant for a meal? Try going somewhere new. [Yes, I definitely know that traveling or going to places new becomes more difficult over time. But, that doesn’t mean we shouldn’t try. Initially, be conservative in your thoughts and expectations. Pick someplace locally and then regionally. The point is just getting out and about with family and friends and hopefully making new friends.]

Tip #3: Say what is in your heart.

Do you sometimes suppress the true words that want to come out? I’m sure we all do that at times. What holds us back is fear. A good way to train your courage is to say something positive about a person – even if you’re nervous of how they’ll receive what you say. [We still have something to say and we need to be heard. Just because we are no longer physically capable of standing up (for long), that doesn’t mean we shouldn’t stand up for our rights and the rights of others (see Tip #5).]

Tip #4: Speak to someone you don’t know.

Imagine being at a party where you don’t know most people. That can feel daunting. You’ll feel a lot better, if pluck up your courage and start a conversation with someone you don’t know. Ask them what they do, where they live, or what they are passionate about. [Almost weekly I hear from someone living with Kennedy’s Disease who feels isolated (alone). That feeling must be terrible. Make a point of talking to someone, anyone, who you meet or want to meet. Don’t let your fears hold you back. Make a positive comment, ask a question, do whatever it takes to break the ice with a stranger. You never know, he/she might become your friend.]

Tip #5: Stand up for someone else.

If you see someone being treated unfairly, what do you do? ... Try standing up for someone else – you will feel your courage grow. [There are all kinds of victims and those of us living with Kennedy’s Disease need to become advocates for these people. See my comments to #3 above]

Tip #6: Learn to shout.

... I’ve experienced that many people have forgotten how to shout. Their self-esteem is so low that they don’t know how to raise their voice. I suggest learning to shout. You can go to martial art classes, walk on the beach, or shout into a pillow. The shout that comes from the belly is a tremendous source of energy and courage. [At some point in our life we were probably told to hold it down. However, shouting can work wonders in relieving stress and generating energy. Did you ever play any sports? What were you taught to do in difficult situations? Shout! Yell! Get pumped! Try it sometime. It might make a world of difference.]

Tip #7: Dress how you want to.

Our society has strong rules about how we are supposed to dress at certain occasions. Maybe you have a dress-code at work that you need to follow. Make sure that you intentionally dress how you like when it’s leisure time. Express yourself through your clothing. [I use to wear a three-piece suit and looked good in it. I found that my suits just don’t look the same when I am sitting in a wheelchair. You can still look good, however, but it might take some experimentation. The key message here is to not let your dress decide whether you participate or not. Get involved!]

Everything mentioned above has one important message. Participate, become engaged, and don’t let your fears and health issue hold you back any more. There is always something to do, someone to meet, something of interest, etc. if we just have to courage to take the first step (or the first rotation of the chair’s wheel).

Happy New Year!

Laryngospasm; Sudden, Terrifying Difficulty Breathing

2011-12-29T10:11:00.001-05:00

As I have mentioned in several earlier posts, laryngospasms are something that many of us living with Kennedy’s Disease experience. It can be frightening for the person having the spasm as well as anyone watching.

A friend with Kennedy’s Disease found this video on YouTube and shared the link in our KDA Forum. The video is less than five minutes long, but does a good job of explaining and showing what happens when we have a throat spasm.

“Dr. Robert Bastian of Bastian Voice Institute explains laryngospasm with video of the larynx and a simulated attack.
Laryngospasm is a sudden, often severe attack of difficulty breathing, typically lasting between 30 and 90 seconds. Usually the individual makes a frightening noise while trying to breathe in during the episode, which they often call a "choking attack. You will hear the types of noises often made by the person experiencing laryngospasm, and see what the vocal folds are doing at the same time.”

Video Link: http://www.youtube.com/watch?v=nPtdkqOLLP4

The simulation spasm clearly shows what we experience as the throat closes and then begins to relax. The sound that is made reminds me of my gasping for air when a spasm occurs.

Other posts on this subject:

Are you afraid to go to sleep? http://kennedysdisease.blogspot.com/2010/05/are-you-afraid-to-go-to-sleep.html
Frequently Asked Questions http://kennedysdisease.blogspot.com/2010/11/frequently-asked-questions-about_07.html
Random Thoughts on Kennedy’s Disease http://kennedysdisease.blogspot.com/2009/11/random-thoughts-on-living-with-kennedys.html
Swallowing Exercises http://kennedysdisease.blogspot.com/2011/12/its-hard-to-swallow.html

Testosterone; the good, the bad and the ugly

2011-12-26T19:35:00.001-05:00

Testosterone is a subject that comes up quite often in the KDA chat rooms. Most men with Kennedy’s Disease have lower than normal levels as the condition progresses. Doctors who are unfamiliar with Spinal Bulbar Muscular Atrophy might recommend testosterone supplements to boost their patient’s levels. Most neurologists familiar with the disease are cautious whenever these type supplements are considered.

Over the years there have been a few studies trying to determine if there are any benefits in using testosterone injections. These studies were inconclusive. One study showed testosterone had a negative effect while another did not show any harm nor any benefit in taking supplements.

Yahoo Health News recently had an article, “Thirteen Surprising Facts about Testosterone” that I found interesting. I have shown six of the facts below.

It's hard to measure accurately
Men are often diagnosed with low testosterone after a single test. This is a big problem, says Neil Goodman, MD, an endocrinologist and professor of medicine at the University of Miami School of Medicine. "If I take blood on a guy and I send it to three labs, I'm going to get three different levels," he says. Efforts are underway to standardize blood tests. In the meantime, testosterone should be checked more than once, Dr. Goodman says, and done in the morning when testosterone is highest. Men whose levels of testosterone are below normal may lose their spare tire when treated with testosterone. "Most of the studies show there's a reduction of abdominal obesity in men who are given testosterone," says Adrian Dobs, MD, a professor of medicine and oncology at Johns Hopkins University School of Medicine, in Baltimore.

It can shrink your belly
Because the long-term effects of testosterone therapy have not been well studied, however, it is generally only recommended in men with below-normal testosterone levels and symptoms such as fatigue, muscle or bone-mass loss, or sexual dysfunction.

Fat can lower testosterone
Obese men tend to have lower testosterone than thinner men, Dr. Dobs says. It's not clear why, she adds, although one possible reason is that obesity promotes a state of widespread inflammation in the body. "When there's fat cells, there's a lot of inflammatory factors," she says. "These inflammatory factors have been associated with suppression of testosterone synthesis."

Too much may kill brain cells
It's only known to happen in a petri dish, but Yale researchers showed that nerve cells exposed to high levels of testosterone were more likely to self-destruct. The hormone boosted a "cell suicide" mechanism known as apoptosis, which, under normal circumstances, is supposed to help the body wipe out cancerous or otherwise abnormal cells. And the higher the testosterone level in the dish, the shorter lived the cells were. Exposure to low levels of testosterone, however, had no effect on the cells.

It may hurt men's hearts
In 2010, researchers halted a study of testosterone therapy in older men because of a higher rate of cardiovascular problems such as heart attack in the group taking testosterone instead of placebo. The reason isn't clear, but caution should be used in prescribing testosterone to older men in poor health, Dr. Goodman says. Declining testosterone in men is associated with health problems, but this doesn't mean giving older men testosterone will extend lifespans, he says.

Low levels of testosterone are linked to sleep apnea
Men with sleep apnea are more likely to have low testosterone, and treating sleep apnea can help return it to normal. But if a man with sleep apnea is diagnosed with low testosterone alone, taking the supplemental hormone can worsen sleep apnea. That's why it's crucial for men with low testosterone to get a thorough workup by an endocrinologist so underlying conditions that can cause low testosterone, such as sleep apnea or pituitary-gland tumors, don't go undiagnosed, Dr. Goodman says.

__________

If you or your doctor is considering testosterone supplements, I would recommend that you discuss it first with a neurologist familiar with Kennedy’s Disease and then monitor the effect closely.

Source: Thirteen Surprising Facts about Testosterone

Happy Holidays

2011-12-23T18:19:00.001-05:00

I will be traveling for Christmas again this year and will not be posting any articles for the next few days.

I have much to be thankful for this year including your support over the last three years of this little venture. This blog has become bigger than I expected. Your comments have been meaningful and helpful.

May you and yours have a safe, healthy and happy holiday season shared with family and friends.

Merry Christmas and Happy Holidays

Our sense of self

2011-12-22T10:45:00.001-05:00

I just took a break from the rewriting of my book this morning to view another interesting video on TED – Ideas worth Spreading. The eighteen minute presentation recorded this year is by Antonio Damasio and the subject is: The quest to understand consciousness.

Short Bio: Neuroscientist Damasio's research in neuroscience has shown that emotions play a central role in social cognition and decision-making. His work has had a major influence on current understanding of the neural systems, which underlie memory, language, and consciousness.

In this presentation he begins by explaining that “Every morning we wake up and regain consciousness -- that is a marvelous fact -- but what exactly is it that we regain?” Antonio Damasio uses this question to provide a glimpse into how our brains create our sense of self. It is fascinating because I never really considered ‘the sense of self’ ... where is comes from and how it works. His visuals helped better explain the interconnectivity of the brain.

It was also interesting to me, from a person living with Kennedy’s Disease, how certain parts of the brain stem impact your abilities to move and feel as well as create the mental state of a coma after a stroke, for example. The explanation of the coma state was fascinating, but the point he made about another state, ‘complete paralysis’, where you are imprisoned within your own body even though you have a conscious mind gave me pause.

If you have the chance, watch the video. It is well worth eighteen minutes of your time.

I am becoming a little bored

2011-12-20T10:42:00.001-05:00

As I mentioned in my dutasteride update, I upped my exercise routine to 120 minutes every other day this last month. Guess what? I was becoming bored.

I found myself not enjoying the exercise program as much as I have in the past. I felt it was too long ... versus too much. I also didn’t feel I was gaining any real benefit from the longer routine.

Yesterday I decided to back off a little (less reps) to determine if that would help. I cut back all the upper body exercises by 15%. The exercise program was more pleasant and I did not feel like I was just going through the motions near the end. It took 95 minutes and afterward I felt like I enjoyed the exercise routine again.

It was also nice to have the extra 25 minutes in the morning. So, I’ll try the shorter routine for this next month and not worry about it. If I see the need to step it up, I will.

* * *

Change to KDA website

On another subject, have you visited the KDA website recently? I added a “What’s New” section. Whenever you visit the site, this page will summarize any recent changes by Topic, date and subject.

The “What’s New” link can be found under the banner and also on the left side-menu. Check it out when you have a chance.

HAPPY HOLIDAYS

Family traditions … one of the cornerstones of happiness

2011-12-18T11:21:00.001-05:00

Tradition: A long-established custom or belief that has been passed on.

Do you remember the play, “Fiddler on the Roof?” The song, Tradition, sang by Topol opens with the question, “And, how do we keep our balance? One word … Tradition.” Later, he asks, “How did this tradition get started?” And, he responds, “I don’t know, but it is a tradition. And because of these traditions everyone knows who he is …”

I am a believer in family traditions. There is something almost sacred in these events. In my family we had many Christmas traditions. Being the seventh son and the second to the youngest of nine siblings, certain ‘brotherly love’ traditions were also honored during the holidays.

For example, we always decorated the house the weekend following Thanksgiving. My mother also started baking Christmas cookies that weekend. She knew that there would be no Christmas cookies left for the holidays if she didn’t hide them from her ‘always hungry’ children. The problem with that idea was that we knew her hiding places.

For the next thirty days we would raid her favorite spots and liberate a few cookies from the confines of their dark, tinfoil-covered prison. One of the secrets passed on from brother to brother was the importance of restacking the cookies to make the plate look like it had never been touched. And it never failed to amaze me that when guests started arriving that my mother would shake her head and comment that she thought she had baked more cookies this year.

Christmas Eve was when we opened presents at our house. Before that happened, however, my father would take any of us still young enough to believe in Santa Clause or old enough to shut up about there not being a Santa Claus on a drive through the town to see all the decorated houses. It never ceased to amaze us that Santa was always able to show up within the excruciatingly long hour we drove around town.

After exchanging gifts, it was time for the Candlelight Service at our church. The entire family sat in one pew and we sang all the Christmas carols. When we returned home my mother had a large pot of chili simmering. Since she was the one who had to do the laundry, she issued each of the boys a dishtowel to wrap around our necks to protect the white shirts and ties. For dessert, she would bring out the last of the cookies and apologize for not making more.

Christmas Day was always church, fellowship (story time), a large ‘dinner’ (I come from Minnesota where dinner is lunch), and visits with friends and neighbors. By now there were no cookies left so we had to settle for pie and homemade candy.

I have to give my mother some credit, however. One year she found a new hiding place for the cookies. We tore the house apart looking high and low, but she succeeded in keeping them hidden. The only problem was she couldn’t remember where she hid them. Six months later she came across the cookies in an old clothes trunk in the basement.

Fortunately for me, my wife’s family has their own traditions for Christmas. Yes, many are different, but they are still something that we look forward to every year. And, they remind me of my childhood, and Santa, a midnight chili feast, candlelight services, Christmas cookies, the importance of family and so much more.

I hope this story brought back fond memories of your childhood Christmases as well as the wonderful, blessed event that will be here in a week.

Does the squeaky wheel always get the grease?

2011-12-16T15:05:00.001-05:00

For as long as I can remember, the axiom above has been with me. Translated for my purposes it means that if you don’t say anything about a problem, it will never be fixed. Granted, there might be times that it is inappropriate or not essential to raise the flag. However, if we do not say something, can we ever expect any improvement? For this reason, almost anytime I order something or request a repair, I document when, who and what was requested, and the results of the request. It isn’t that much work, but it sure removes the “I don’t remember” problem if I have to follow up.

I am not talking about complaining every time something goes wrong. I am focused on the times that a problem or negative situation does not improve even though you have tried your best to resolve it. At times like this, when you have tried over and over to resolve the situation, it might be time to let someone know who has the authority or responsibility to correct the issue.

An example: Recently I was having a service issue with my DSL service. I had been patiently working for months with the provider, but the problem could not be corrected for a couple of major reasons. I raised my concern to a manager ... not in a negative way, but in a problem solving mode using this example:

This is the problem (explained in detail from my perspective)
These are my issues/concerns as a result of this problem
Here are their issues that I am aware of (a way to show I understand their issues also)
Then I ask the question or solicit their help ... “What can ‘we’ do to resolve this problem? “

Early this week the workmen from the telephone company were testing the lines in our neighborhood. While I was walking my dog I stopped to see what was going on. The supervisor stepped forward and said they were trying to resolve the DSL transmission issues in the neighborhood. He then surprised me by saying that they wanted to test the changes they were making to see if my service is improved. He commented that he had heard my concerns and he now believed they could correct the problem.

Wonderful! “The grease was working”

Another example: Over the last five months I have had what I consider terrible repair service on my wheelchair. Back in July it took three weeks to repair the seat bracket. During that time I had to use a MDA loaner chair. It was okay, but it wasn’t my chair nor was it compatible with my van. At the time I raised the concern I was having with the district manager.

A month ago I had a small issue with the footplate of my chair. I asked to have the part (a 3” friction pin) sent to me and I would install it myself. I couldn’t see waiting or paying for a service call for something I could replace in about two minutes. It has been 31 days and I still do not have the part. To make matters worse, about two weeks after I ordered the 3” pin, my neurologist calls me and asks for information on the chair so he can approve the request ... validate the need for the repair. I found it impossible to believe that my doctor had to approve a request for a small replacement part.

I decided that these service failures ... in my opinion ... needed to be elevated to someone with responsibility for the service. So, I wrote the regional vice president this morning. I apologized for having to bring the problems to his attention Commented that I know there are three sides to every story (customer, company and the facts of what actually happened) Explained why I felt it was in his best interest to understand what I am experiencing just in case I was not the only one having problems. I outlined my concerns in the cover letter Summarized the issues in the first attachment Detailed every contact and response (using my notes) in another attachment.

Now, I’ll wait and see what happens.

No, the squeaky wheel doesn’t always get the grease, but if they don’t hear the squeaking they will never know it needs to be greased.

Ten Month Update on Dutasteride

2011-12-13T10:56:00.001-05:00

Things continue to go well for me. I averaged 120 minutes of exercises every other day. I continue to do a short 15 minute exercise program on the light days. The 120 minutes is up 8 minutes from my previous average. I did not have a ‘down day’ this last month. I believe that is one of the greatest benefits for me. I have not experienced any side effects that I am aware of.

Also, about a year ago we were considering have the bathroom remodeled because I was having difficulty getting into and out of the shower (4” lip). That has not been an issue since starting dutasteride.

Someone asked recently if I am stronger. I can only give a subjective response to that question since I have not been tested. I feel stronger than I did a year ago. My exercise program is longer and more intensive without any noticeable side effects. I have not fallen in the last year even though I am on my feet a lot more. I haven’t experienced what I call a ‘slide’ in a long time ... and boy is that a great feeling.

On the flip side, a friend who is also taking dutasteride is considering stopping. He wrote yesterday, “I am considering stopping it; I have had my worst 9 months ever. I have pain in my hands which I have never had before and I generally seem to have much less energy. I know everyone can react differently but are you aware of anyone else who has stopped this medication for side effects. Any comments welcome.”

A Question: If you have had any positive or negative experiences using dutasteride please let me know.

Soon I will have my one year review with my doctor. It will be interesting what he says and my blood tests show.

Research Update on the Androgen Receptor and Kennedy’s Disease

2011-12-11T09:31:00.001-05:00

SIRT1 Modulates Aggregation and Toxicity through Deacetylation of the Androgen Receptor in Cell Models of SBMA
Montie HL, Pestell RG, Merry DE.
Published in Journal of Neurosciece - 2011 Nov 30;31(48):17425-36.

Source:
Departments of Biochemistry and Molecular Biology, and Cancer Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.

Abstract:

Posttranslational protein modifications can play a major role in disease pathogenesis; phosphorylation, sumoylation, and acetylation modulate the toxicity of a variety of proteotoxic proteins. The androgen receptor (AR) is substantially modified, in response to hormone binding, by phosphorylation, sumoylation, and acetylation; these modifications might thus contribute to DHT-dependent polyglutamine (polyQ)-expanded AR proteotoxicity in spinal and bulbar muscular atrophy (SBMA). SIRT1, a nuclear protein and deacetylase of the AR, is neuroprotective in many neurodegenerative disease models. Our studies reveal that SIRT1 also offers protection against polyQ-expanded AR by deacetylating the AR at lysines 630/632/633. This finding suggested that nuclear AR acetylation plays a role in the aberrant metabolism and toxicity of polyQ-expanded AR. Subsequent studies revealed that the polyQ-expanded AR is hyperacetylated and that pharmacologic reduction of acetylation reduces mutant AR aggregation. Moreover, genetic mutation to inhibit polyQ-expanded AR acetylation of lysines 630/632/633 substantially decreased its aggregation and completely abrogated its toxicity in cell lines and motor neurons. Our studies also reveal one means by which the AR acetylation state likely modifies polyQ-expanded AR metabolism and toxicity, through its effect on DHT-dependent AR stabilization. Overall, our findings reveal a neuroprotective function of SIRT1 that operates through its deacetylation of polyQ-expanded AR and highlight the potential of both SIRT1 and AR acetylation as powerful therapeutic targets in SBMA.

_________________________________

Below is an explanation from Ed Meyertholen of what the researchers found and what this means for those of us living with Kennedy’s Disease.

What did they find?

This paper was an investigation related the effect of modifying the androgen receptor (AR) on the toxicity of mutant AR on cells. As a brief introduction, Kennedy’s Disease (aka KD or SBMA) is due to a mutation in the gene that tells the cell how to make a protein called the androgen receptor. It is generally believe that this mutation results in the formation of a toxic by-product when the cell is removing old AR. This toxic fragment results in the death of certain nerve cells known as motor neurons. It is the death of these cells that is thought to be ultimately responsible for the formation of symptoms of Kennedy’s Disease. Many studies on Kennedy’s Disease involve attempts at reducing the toxicity of this fragment.

Cells often modify proteins and in doing so, can alter their activity. One such alteration of the AR is the addition of a small molecule called an acetyl group to the protein. The addition of this group has a special name, acetylation. Removing the acetyl group is deacetylation. This study primarily found that if you reduce the amount of acetylation on mutant AR, cells do not die even though they have the mutant form of AR.

What does this mean to Kennedy’s Disease patients?

One of difficult aspects of Kennedy’s Disease is that scientists do not know enough about all the normal factors that affect the working of the AR and that makes it more difficult to determine why it kills cells. This study could open up a new pathway for discovering drugs/chemicals that may reduce Kennedy’s Disease symptoms. If one could find a drug that stimulates the deacetylation of the AR, it could be therapeutic.

Am I taking the time to smell the roses?

2011-12-08T11:54:00.001-05:00

Throughout the years I have recommended the “Goodlife Zen” blog. Mary Jaksch does a wonderful job of reminding us of the important things in our life that we often take for granted. In her latest post, “Nature, Beauty, Gratitude” she has a wonderful ten minute video prepared by cinematographer Louis Schwartzberg and presented at TED (Ideas worth spreading) in San Francisco earlier this year.

The topic of the short video is gratitude; something we often overlook in our lives. All of us in this multi-tasking, non-stop world tend to overlook how wonderful life is around us.

Mr. Schwartzberg has a pet project where he has been taking time-lapse photography of flowers continually (24 hours a day) for over 30 years. He comments that 80% of the information we receive comes through our eyes. In this video he explains as we watch some of his time-lapse film of flowers blooming that “beauty and seduction is nature’s tool for survival because we protect and defend what we fall in love with.” That could not be said any better.

Another comment in the video has to do with weather. We often complain about or are thankful for a particular day’s weather, but do we really take the time to observe these moments? The weather (cloud formations, sun, rain, fog, whatever) at that exact moment is unique and might never be experienced by us again. Yet, we do not take the time to watch the weather unfolding or changing. It is something we either put up with or enjoy, but we rarely take the time to watch it.

Mr. Schwartzberg goes on to briefly explain how light and colors are translated within our eyes and brain to form images. And, how these images then form ‘our world’ allowing us to see the beauty that surrounds us. His message is one of constantly giving thanks for this wonderful world we live in.

Those of us living with Kennedy's Disease can occasionally forget about how wonderful our world is and how much we have to be thankful for.

So, don’t just watch the video. Afterward, take a moment and ‘smell the roses’.

It’s hard to swallow

2011-12-06T06:55:00.001-05:00

More swallowing exercises …

As you know, I practice several swallowing and tongue exercises every day. I feel they have helped with my eating and reduced my choking episodes. In our forum, a KDA associate recommended two more exercises that he said worked for him. These exercises, recommended by Dr. Vega, can be found at: http://stroke.about.com/od/caregiverresources/qt/swallowxrcs.htm .

1. Shaker Exercise

Lie flat on your back and raise your head as though you were trying to fixate your gaze on your toes. While you do this, make sure not to raise your shoulders. This simple exercise improves swallowing ability if it is performed three to six times per day for at least six weeks. If you get good at it, increase the duration of each head lift and the number of repetitions

2. Mendelsohn Maneuver

This simple exercise is very effective at improving the swallowing reflex. It involves swallowing your own saliva. Normally, as the saliva enters the area just behind your mouth during swallowing, your "Adam's apple" (the hard area about halfway down the front of your neck) moves up and then back down. To do this exercise, keep the Adam's apple elevated for about 2 to 5 seconds each time. You can help it stay there with your fingers at first, in order to better understand the movement you are about to do. But the exercise will only help you once you can make it stay up without assistance. Repeat this exercise several times per day.

I also found the following exercise interesting.

3. Effortful Swallow

The purpose of this exercise is to improve the contact among the different muscles used during the act of swallowing. In essence, the exercise consists of swallowing. But as you do it, you must try to squeeze all of the muscles of swallowing as hard as you can. You do not need to swallow food during the exercise. Just a dry swallow will do. Perform this exercise 5 to 10 times, 3 times per day.

And don’t forget the swallowing and tongue exercises provided in the Smart Exercise Guide – Part II.

1. Stick Out Your Tongue
Bite down lightly on your tongue to hold it in position. Swallow ten times (or more) while holding the tongue between the teeth. Perform this exercise every day.

2. Large Smile
Make the sound “EEEEEEEEEEEEEEEEEEEEEE” as you stretch your mouth muscles into a large smile. You should be able to feel throat muscles vibrate (stretch).

3. Pucker your Lips
Make the sound “OOOOOOOOOOOOOOOOOOO” as you pucker you lips. You should once again be able to feel your throat muscles vibrate (stretch)

Can women have Kennedy’s Disease?

2011-12-04T09:31:00.001-05:00

Over the last couple of weeks I received two emails from women asking if they could have Kennedy’s Disease. Both women thought that it only affected men. One woman had previously been diagnosed with ALS.

Not Gender Specific

Kennedy’s Disease is not gender specific. Both men and women can have the defective X-chromosome gene. It is rare, however, for women to show symptoms until late in their life. Also, symptoms for a woman are generally minor compared to a man. My mother, for example, began to experience leg weakness and twitching in her early 70s.
The symptoms are caused because the mutated gene cannot process testosterone correctly (do its job). And, since men normally have higher levels of testosterone, the symptoms are more severe and begin to show up earlier in life.

DNA Test

Women are tested for Kennedy’s Disease the same way as men. Your family doctor can draw the blood and send it to a DNA lab for analysis. If your doctor is unfamiliar with Kennedy’s Disease, you might want to print this web page that explains the DNA test (http://www.athenadiagnostics.com/content/test-catalog/find-test/service-detail/q/id/61 ). A DNA blood test normally takes about 4-6 weeks.

Genetics

Since the disease is genetic, both men and women can pass the defective X-chromosome gene on to their children. Women are considered carriers. Normally, they have one healthy and one defective X-chromosome. There are very rare cases where a woman has two defective X-chromosomes. A carrier can pass either a healthy or a defective X-chromosome on to her children (son or daughter). A man with the defective gene can only pass the defective chromosome on to his daughters.
The genetic chart below shows how this can happen.

Should you have any questions, please don’t hesitate to ask. If I don’t know the answer, I will try to find someone that can answer it for you.

A potential disaster

2011-12-01T10:33:00.001-05:00

This post has nothing to do with Kennedy’s Disease or exercise or coping with disease. This is about survival in the world of technology.

I have had computers since the days of the IBM AT with DOS operating system, 256k of memory, one floppy drive and a ten megabyte hard drive. When I bought my first computer I was told I would never fill up the hard drive. How things change. Today I have a 500 gigabyte hard drive, 4 gigabytes of memory, a quad-four processor, a read/write CD/DVD optical drive ... I think you get the point.

In all the years I have been computing I have never lost a hard drive. Okay, let me correct that. Until Monday of this week I had never lost a hard drive. Fortunately, I have always backed up my entire hard drive daily to an external drive and to the ‘cloud’. Since my current computer is used mainly for Kennedy’s Disease Association work, I always felt redundancy was important.

My Dell Vostro 420 has been a workhorse for three years without one problem. Like anything, however, it can break down. As soon as I saw an error message in the Acronis Drive Monitor program I called Dell. They tried several options before deciding my drive had to be replaced. Dell shipped the replacement drive out with one day’s service (great). I immediately began sweating bullets ... thinking the worst, but hoping for the best.

After the new drive was installed, I really became nervous. I did not have a lot of confidence that my Acronis True Image backup software would do what it was supposed to do. I loaded the software from its CD and began to say a prayer. Fortunately for me, the software was designed to be intuitive and after a few clicks of the mouse, it started to restore my data.

A message appeared and said that it would take 58 minutes. I had breakfast and took my dog for a walk. When I returned, the message on the screen said, “A reboot is required ... reboot now?” As the program shut down my focus remained on the screen wondering and hoping that everything would work when it started back up. My confidence level was still in the 50% range, however.

AMAZING! MIRACULOUS! FANTASTIC! My entire operating system and all my data and configurations were restored without a hitch. I was fully operational with one hour.

I cannot even begin to imagine how long it would have taken to reinstall my drivers, reconfigure my hardware and operating system, download the Microsoft Updates and the dozens of programs and as well as their updates, etc. if I had only saved ‘My Documents’.

I believe I paid $29 several years ago for Acronis True Image and $75 for my external hard drive. Those two items turned out to be one of the best investments I have ever made.

The message for today is ...

BACKUP – BACKUP – BACKUP

The word is slowly getting out there

2011-11-29T10:36:00.001-05:00

I find it interesting and heartening that Kennedy’s Disease is becoming more familiar to the younger generation. Within the last couple of years I have received emails from high school and college students in Sweden, Germany, Spain, Brazil, California and Oregon that were preparing reports on Kennedy’s Disease and needed additional information. This is good news because the more people that know about this disease, the better.

Also, over the last two years at least seven videos have been published on YouTube concerning the disease.

Tell others your story

Word of mouth is still one of the most efficient ways to get our message out there. It is more personal. The KDA has brochures available that can be given to your doctor. These are the same brochures that were distributed to over 10,000 neurologists in the United States. If you would like a brochure(s), just let the KDA know how many you would like by sending them an email (info@kennedysdisease.org) with your address.

I know that many of us who attend MDA clinics often spend time with medical students letting them poke and prod as we teach them about this DNA defect. Of the twenty-five plus future doctors I have worked with over the last ten years, not one knew about Kennedy’s Disease.

Sharing your medical records

I also keep copies of all my medical records and tests. When I move or switch doctors, I take the file with me for the first visit and go over the disease’s background, recent tests (blood, DNA, etc.), my symptoms and the results of clinical trials. I have noticed that the more I engage my doctor up front, the more willing he/she is to support me as the disease progresses.

I feel the more people that are aware of this disorder, the better the understanding of what needs to be done to manage the symptoms today and eventually help find a treatment.

So … let’s get the word out!

Kennedy’s Disease and Recent Research

2011-11-27T13:34:00.001-05:00

The 2011 Kennedy’s Disease annual conference and educational symposium was held this month. Over twenty researchers were involved in the conference and many gave updates on their current research.

Jack Durning recorded some of the presentations and released them to YouTube this week.

Presentations Available

Ed Meyertholen, the KDA’s guru in explaining Kennedy’s Disease, was one of the presenters. From the attendees after-conference survey, most everyone rated Ed’s discussion as one of the most interesting. Ed’s presentation is five 15 minute videos and one six minute video. Ed explains Kennedy’s Disease, DNA, bindings, folding, the ‘wood-chipper’, cytoplasm, clinical trials, placebos and much more.

Ed, unfortunately, did not use a mike. There were many times he was not facing the recorder’s mike so he is more difficult to hear.

Part 1: http://www.youtube.com/watch?v=02Jooy9LD_4
Part 2: http://www.youtube.com/watch?v=DS1m82l164Q
Part 3: http://www.youtube.com/watch?v=Vf4BQT2fEec
Part 4: http://www.youtube.com/watch?v=AK1Ag-bTSsw
Part 5: http://www.youtube.com/watch?v=7-UPuQTJCfo
Part 6: http://www.youtube.com/watch?v=bkDQVumf7-E

Below is a link to Dr. Lenore Bietel’s presentation. Lenore is a Kennedy’s Disease researcher located in Canada. She gives a thirteen minute presentation on her lab’s research project including discussing whether the PolyQ AR clogs up Proteosomes as well as a study of the androgen receptor and the protein interaction connection.

Link: http://www.youtube.com/watch?v=pNg88tasvqI

And, the following link is for Dr. Masahisa Katsuno’s presentation of his research including an explanation of neuro-degeneration and the leuprorelin clinical trial. This recording starts a few minutes late into the presentation.

Link: http://www.youtube.com/watch?v=u6gPGUgI-KY

QUESTIONS? If you have any questions, please let me know and I will try to have them answered.

Happy Thanksgiving

2011-11-22T15:16:00.001-05:00

Since I will be traveling Thursday, today’s post will be my Thanksgiving message.

I have so much to be thankful for and I hope most of you will be counting your blessings come Thursday.

I have said it many times, but we live in a great country. Yes, it is not perfect, and, yes, things could always be better, but, in all of my travels, I have found the USA to be the most perfect – “imperfect” country.

On a more personal level, I am very grateful for my family, neighbors, friends and critters. Yes, our three strays are an important part of our lives because they bring us much joy. Also, I am still finding it hard to believe that I am going to be a great-grandfather in two months. Who ever thought that could happen at the ripe old age of 29.

I am thankful for my overall health because things could be far worse than just having to live with Kennedy’s Disease. It seems my evening prayers always have a long line of prayer requests for those less fortunate in regards to their health. I have said it many times, things could always be worse.

And, most importantly, I cannot imagine life without my wonderful wife. She needs to be nominated for sainthood. My wife never envisioned having to share our life with Kennedy’s Disease. This disease has taken a toll on me, on our relationship, on my wife’s freedom and on our retirement plans. Yet, like the Eveready Bunny, she just keeps going and going. She is a true blessing.

I also need to say thanks to all of you who read my articles and put up with the ranting of a mad blogger. The reason I continue to write is because of your support.

Be safe this holiday season and have a

HAPPY THANKSGIVING

Are you clinging to your past

2011-11-20T10:20:00.001-05:00

I write a lot about ‘acceptance’. The theme of this blog is also about acceptance. I believe that finding a way to accept your current situation is healthy and necessary in order for us to move forward with our lives.

The “Nine Stages” I wrote about in 2009 is an article everyone should read. In it I comment, “ ... whether it is death or some life-altering event, everyone (yourself and your family) going through the event has to experience most, if not all, of the stages ....“

The Nine Stages

1. Denial
2. Shock
3. Anger
4. Bargaining
5. Guilt
6. Depression
7. Loneliness
8. Acceptance
9. Hope

Denial is something most everyone experiences. It is often followed by shock and anger. “why me” is the most common question asked at that time. Bargaining is interesting because I believe many people use prayer for this (e.g., If you will heal me, I will promise to ...). Guilt is something I write about quite often (it seems to come and go in my life). Depression is something I have not experienced, but I know several others that have and it is a traumatic. Loneliness is experienced by many of us at some point because so few know of this disease and you have no one to talk to or confide in that share your experiences. And I believe acceptance is necessary before you can find hope.

Clinging to our past

If we cling to our past capabilities (the way things used to be) we do not look for new ways to accomplish our daily tasks and our thoughts are often accusatory or self-defeating. We become more frustrated as we sink further into the quagmire of doubts, questions and accusations. Thoughts like, “why me,” “why can’t I,” “what next,” and “if only” do not help anyone. If we are to survive, at some point we have to “LET GO.”

Yes, it is natural to hope and pray that a miracle will happen and the progression will slow or stop. When I write of hope, however, I am referring to the hope that researchers will find a treatment. I don’t believe there will ever be a miracle drug in my lifetime that restores my dead motor neurons and atrophied muscle cells. But, I do believe that researchers will discover a drug that can slow the onset or progression of this disease.

It is important that we understand where we are in the Nine Stages mentioned above. Just knowing what stage we are in will help us move towards acceptance and give us hope.

Two Questions

Ask yourself the following:

What stage are you in?
How can you release yourself from your current restraints so you can move forward again?

Nine Month Update on Dutasteride

2011-11-15T09:46:00.001-05:00

The beginning of November had me a little worried. I had a difficult time performing my entire routine on Wednesday, November 2. My leg strength felt okay, but my arm strength was off. I had to back off on the number of reps or used lighter weights in some routines.

Even worse, afterward I felt weak. Normally, after my routine I feel ‘pumped’. Within a few hours I was aching, had chills and developed a cough. I then realized I was coming down with something. I had a terrible night with little sleep because of the constant coughing. I rested Thursday because I continued to feel weak and achy plus I still had a fever. That Friday I felt a little better so I decided to exercise. I had a good, strong 105 minute exercise, but I still could tell I was not fully recovered. Saturday I was feeling fine again.

Other than that ‘bug’ that I caught it has been another good month where I averaged 111 minutes of exercises every other day and 22 minutes on the light days. I still have not noticed any side effects.

I am once again considering increasing some of my reps or adding more weights because some exercises have become quite easy. I do not want to overdo it, however, because I remember what happened last spring with my over exuberance. The neck weakness I experienced for about a week in May has not reoccurred (thank you very much).

Life continues to be good and I feel I made the right decision by beginning my own dutasteride trial.

Wheelchairs … what is right for me?

2011-11-13T13:37:00.001-05:00

Quest Magazine always seems to have some great articles. Their October edition had one called, “Front, Middle or Rear … Finding the Power Chair Drive System that’s Right for you.” For anyone in need of a wheelchair, new or replacement, this article is a good read.

I remember when I upgraded from a mid-wheel to a front-wheel drive. It was totally different. I tend to like it more in many ways, but it took a little while to get used to just because of my experience with a mid-wheel.

Work with a specialist

Kathy Wechsler wrote that it is best to work with a certified rehabilitation technology supplier (CRTS) as well as an occupational or physical therapist who specializes in wheelchairs. They will perform an assessment and evaluate your particular needs and capabilities. She also recommends that you ask a lot of questions and not to quit asking until you feel comfortable with the answers you are getting.

Consider your needs and ask a lot of questions

Since you want to have a chair that accommodates your lifestyle as best as it can, consider the following:

The size and setup of your home, office and your wheelchair accessible vehicle (if you have one).
Also, do you spend a lot of time outdoors?
The width and turning radius of your chair … will it accommodate your doors and turns within your home?
The suspension system of your chair … this is especially important it you plan on spending a lot of time outdoors. Usually front and rear wheel drive units perform the best.
How is the weight distributed on the chair? Rear wheel drive chairs, for example, put a lot of weight on the casters and this often causes problems.
What kind of obstacles and inclines will you encounter during normal use? Front wheel drive units perform the best for curbs, grass, gravel, snow and uneven terrain. Mid-wheel drive chairs can get hung up easily because they have front and rear casters. On the other hand, mid-wheel drive units are usually the most stable on inclines and declines for the same reason it is a negative for different terrains. Normally, rear wheel drive units are the least stable on inclines and declines so it is important to have anti-tippers on the rear.
How fast do you need to go? For speeds up to 5 mph, all chairs perform well. For higher speeds, the rear wheel drive chairs are more stable.

As you can tell, all three models of chairs have their pros and cons. That is why it is important to get a personal evaluation and assessment as well as to ask a lot of questions. The author mentions that you should “go with your gut” and not what seems to be fashionable or trendy.

Don’t forget to say THANK YOU

2011-11-11T11:11:00.001-05:00

Today is Veterans Day.

To all who have served or are currently serving,

THANK YOU

You and your families have sacrificed much to serve your country …

… including some who have given the ultimate sacrifice.

We owe all of you big time!

The information out there is often still bad

2011-11-10T18:35:00.001-05:00

On Wednesday I received a Kennedy’s Disease alert from Google. The article by Charlene Chua was a follow up on Chew Chor Meng, the actor who was diagnosed a few years ago with Kennedy’s Disease.

I was very interested in reading more about this man because when it was first announced that he had Kennedy’s Disease, I contacted the writer and then Chew’s agent to let him know the Kennedy’s Disease Association was available for support. I provided a link to the KDA website and the forum as well as mentioned about our twice a month chats. I never heard back and after a couple of more attempts I let it go.

Bad Information

While reading this article I was surprised at some of the information provided. For example:

He was told he only would live eighteen months. [Wrong!] Most people with Kennedy’s Disease live a normal life span.
Chew was also told ... ‘In worst-case scenarios, the muscles and even the brain will shrink till the person becomes incapacitated.’ [Partially wrong!] Kennedy’s Disease is a lower motor neuron disease. Cognitive (brain activity) is not impacted.
TNP understands that there are many forms of muscular atrophy and unless the full specifics of an individual's condition are known, how the disease's passed on genetically cannot be confirmed. [Wrong!] A genetics counselor and most doctors familiar with Kennedy’s Disease can explain how it is passed along with who has the potential of being passed the bad gene.

A Good Message

Yet, the article had a good message. Chew commented: "Ever since I was diagnosed, I appreciate every single day. As long as I can wake up, breathe and eat, I'm happy. Being happy keeps me alive. People are never satisfied with what they have. In these three years, I've learnt a lot and one of the most important things is that all humans really need is love and peace."

Chew’s ending comments were: "You only have one life to live and you don't get a second chance, so treasure it and live properly. After three years, I can walk, I can even drive, so I'm happy. All things work out good. It's all good."

Be your own Advocate

I believe it is very important to not just rely upon your first diagnosis. A second opinion is often necessary and prudent. With Kennedy’s Disease there is a DNA blood test that will confirm if you have it. Also, the internet is an excellent resource for information. Unfortunately, not everything you read is factual.

And, just as important is Chew’s message about finding happiness and accepting your situation. Remember, the only handicap in life is a bad attitude.

The only thing constant in life ...

2011-11-08T14:12:00.001-05:00

... is change.

While I was working, this quote became a mantra for my team. We knew that we could not expect that what worked yesterday would work today or possibly tomorrow. This saying went well with, “If you keep on doing what you have always done, you’ll keep on getting what you’ve always got.” In other words, we had to continually look for ways to improve if we expected to survive; and, we had better be willing to accept change.

Learning to live with Kennedy’s Disease requires your acceptance of constant change. Progression, a misnomer in my book, means that what you could accomplish in the past might not be able to be done today. It is one of the hardest pills to swallow in my opinion. Yes, it happens gradually, thank God, but it still happens. And, you had better be mentally and emotionally prepared for it when it occurs.

When I was in my thirties and early forties, this change was far less noticeable. It was something you could tell little white lies about (e.g., bad knees) instead of facing the truth that something ugly was happening (the ‘progression’ word). At some point, however, I could no longer fool myself. It wasn’t much later I realized I could no longer fool my friends and associates. I had to accept that something was happening that was irreversible.

I have mentioned many times that one of the blessings of Kennedy’s Disease is the progression. It is slow (approximately 2-3% a year). When your onset was just a few years ago, the 2-3% doesn’t sound like much at all. However, when you have been dealing with the disease for thirty plus years, the 2-3% is accumulative and quite evident in most everything you do.

Again, as difficult it is for me to say, the slow progression is really a blessing. Can any of us imagine living with this progression if it was 10 or 20% a year? Wow Nelly! Now that would be difficult to deal with.

So, change is major part of our acceptance process. We must live with it and somehow find a way to deal with it. Because the one thing we know for certain is there will be more change. And, with this change will come greater wisdom and a better understanding of our purpose in this world.

Our True National Debt

2011-11-06T10:58:00.001-05:00

In this morning’s paper was a well written commentary by Fang. A. Wong titled, “For those who served.” Mr. Wong brought forward the case that even though our national debt was a very serious issue, the biggest national debt is that which America owes to its veterans. He proposes that November 11, Veterans Day, is the “perfect opportunity for us to take a historical audit on just how much this nation owes to her heroes.”

The author commented, “Our debt to these heroes can never be repaid, but our gratitude and respect must last forever.” Mr. Wong said that less than 10% of Americans are veterans. “... American warriors do not complain. They endure. Warriors make do with less. Warriors finish the job, no matter how hard, no matter what is asked.”

He asks us to remind our lawmakers that there is a debt we all owe to those who served. The author concludes his article with a statement from George Washington. “The willingness with which our young people are likely to serve in any war, no matter how justified, shall be directly proportional as to how they perceive the veterans of earlier wars were treated and appreciated by their country.”

They sacrifice so much

It will be easy for us to just go about our normal routines this Friday, November 11, and not really consider all who have sacrificed so much to defend our country and fight the battles our government believes are worthwhile. Our current armed forces and our veterans are not the only ones who sacrificed something. Their families (mothers, fathers, siblings, spouses and children) also gave up so much. For example, service men and women as well as their spouses and children give up jobs, homes, schools, friends and a certain amount of security to serve. The spouses and children also have to live with the daily uncertainty of ‘if’ and ‘when’ they will be reunited again. Can you imagine what it is like for a child living with that uncertainty every day?

Service men and women come home today to an economy and job market that is scary to say the least. If they were seriously injured, the prospects for a normal life are even more difficult to comprehend. We need to ask ourselves whether we, as a nation, are serving our veterans as well as they have served us. I believe that answer is ‘NO’.

How can we help?

Some of you might not know where to get started. This week’s Parade magazine makes it easier. First watch the video, “The unbreakable bond.” The left column of that page has links to each of the six stories of individuals who served in six different wars. On the right column of that page are links to several organizations where you can show your support. Then read the online article, “11 Ways to Help Veterans.” It provides several opportunities to help.

Some ways are as easy as:

Giving a veteran a ride to a V.A. hospital.
Providing foster care for their pet.
Donating old cell phones and DVDs.
Cutting out food coupons (military families can use them for six months past the expiration date).

At the very least, they need to know that we are aware of what why and their loved ones sacrificed. You can do that by just shaking their hand and saying,

“Thank you.”

Let’s start repaying our greatest national debt by honoring those who serve and have served.

Veterans Day, November 11

Living a Full Life

2011-11-03T10:21:00.001-04:00

If there is one piece of advice that I always give concerning living with Kennedy’s Disease, it is to not let the disease control your life. It is important to find new ways to ‘live life to the fullest’.

Terry Waite’s guest post last week brought to mind an interesting article in Quest Magazine. Living Outside the Bubble by Debbie Button tells the story of a mother who has a child with SMA-1. The story is told from the perspective of a caregiver. While watching her son grow up, she tried to do everything to protect him and it was difficult to watch him become more assertive and self-reliant.

In the article, Ms. Button commented, “A door is never permanently locked; it just may require a new key.” This comment, along with Terry Waite’s skydiving experience, made me want to write this post.

Often I hear from men who have recently been diagnosed with Kennedy’s Disease who believe that their life has changed forever. They look upon the diagnoses almost like a death sentence. As Terry commented in his article, he needed to break free of his fears and get beyond “I can’t.”

In the past I have written about maintaining a “quality of life” that you, as well as your family, are comfortable with. Many people with health issues refuse to give up and give in. Yes, they might not be able to physically perform certain things like they did a few years earlier, but there are ways around almost everything these days. Finding a ‘new key’ is the trick.

For example, a blind man climbed Mt. Everest with the help of the rest of his team. Or, triathletes who compete in the IronMan without the use of their legs. A KDA associate still sails every chance he can. Another associate in his 60s still plays golf every Saturday. A professor with Kennedy’s Disease took his class to Vietnam last year. The students had to carry him up and down steps and he had to rent a moped instead of a bicycle, but he still went everywhere and saw everything.

Yes, they have help and use some aids, but they are still living the life they enjoy.

I still walk my dog four times a day and visit friends and neighbors with the help of my golf cart. I look for handicap accessible trails today where I can still use my wheelchair. Not that many years ago I was still hiking Mount Rainer. I fell down so many times while hiking that I lost count. Yet, I was back up there hiking again the next weekend. Every hike was special for my wife and I and we still talk about many of them today. But, these hikes provided an even greater meaning for me. I was still up there with my wife doing what we loved to do.

Ms. Button ends her article with, “When navigating life with a serious health situation, every day presents new and unique circumstances. But deciding to experience an abundant life will allow for the fewest regrets in the end. Fear is a natural response – but don’t let it keep you from moving forward.”

Yes, we have to adjust and we have to compensate, but that doesn’t mean we have to give in or give up.

What is your passion?
What do you love to do?
What is keeping you from doing it today?

Now, find a way (a new key) so you can still enjoy it.

Sticks and Stones

2011-11-01T10:45:00.001-04:00

... may break my bones, but words will never hurt me.

I probably used the above saying dozens of times when I was a child. Today I still agree with it UNLESS it is my internal voice talking.

Why is it when someone says something negative about you, it makes you upset because you know it is not true or you don’t want to believe it? However, if it is your internal voice saying it, you tend to believe it?

Internal dialogue can be your best friend or your worst enemy. It can be uplifting and supportive or destructive. The choice is ours to make because the good thing about your internal voice is it can be controlled and refocused. A mentor and friend once told me, “You can wash away those negative thoughts with a simple ‘whoosh’. Then you can replace those thoughts with positive, reinforcing ones. I know, it sounds silly and too simple. Yet, it works!

As we learn to live with Kennedy’s Disease, it is important to control and refocus any negative thoughts. Self-doubt and guilt can rule your life if you don’t take charge and shut those voices down.

When a negative thought comes into our lives, we can either be the victim or the creator of a new thought:

Victim ... Blaming, complaining, making excuses, believing it is true
Creator ... Taking positive action, seeking solutions, experimenting (trying something new), ridding ourselves of negative thoughts and replacing them with constructive ones

What I am asking today is the next time you are feeling a little down and that nagging voice in your head just won’t shut up, recognize that you can either accept the negative thoughts or change them. In other words, ‘WHOOSH’ the negative thoughts away and replace them with something positive and realistic.

Examples:

Replace “I can’t” with “I will find a way.”
Replace “Why me?” or “This can’t be happening to me” with “I can live with this” or “I can make this work.”
Replace “If I am this weak now, what will I be like in a year or five years” with “What can I do today to help offset this weakness?” or “I am going to take this one day at a time.”
Replace “There is no hope” with “Researchers throughout the world are trying to find a treatment.”
Replace “There is no way I can exercise every other day” with “I am going to make time to exercise today.” (Then two days from now say it again)

The key is to find the right words (your words) that will motivate you to consider something other than the negative. It might take a few attempts, but the results could be life changing.

Besides, what can it hurt to try?

A Humbling Experience

2011-10-30T13:41:00.001-04:00

Humility: A modest or low view of one's own importance; (or adjectival form: humble) is the quality of being modest, reverential, even politely submissive, and never being arrogant, contemptuous, rude or even self-abasing.

_____________________

I read a good article the other day in the Georgia Magazine. The ‘viewpoint’ by Paul Wood, President and CEO of Georgia Electric is titled, “Oh, Lord, it’s hard to be humble” and I encourage you to read it.

He mentions the Mac Davis lyrics, “Oh, Lord, it’s hard to be humble when you’re perfect in every way.” Mr. Wood goes on by saying the two best places to learn humility are on the golf course or at a favorite fishing hole. He cited a few examples of what he was referring to.

You can be five strokes ahead in a golf tournament when that little round ball decides to take a bath in the nearest pond, play in the sand in a bunker, or hide behind a tree in the rough.
You can be president of the United States and it still won’t matter to a striped bass or trout. President Hoover once said, “All men are equal before fish; fish make no distinction between presidents and garbage collectors.”

Paul Wood goes on to call these situations “teachable moments.” Humility is a tough row to hoe because it is natural for us to want to be recognized, admired and appreciated for the things we do. He also mentioned that Ben Franklin was quoted, “Even if I could completely overcome pride, I would probably be proud of my humility.”

The article concludes by Mr. Wood commenting on his relationship with golf. He said it if you want to know if a person is arrogant or humble; invite him to play a round of golf with you. Watch his reaction when he makes a bogey and when he makes a birdie. Does he ignore his success and talk about how he could improve his game or does he brag incessantly throughout the round? Golf will reveal his true character – and guarantee his humility.

_____________________

Being both a fisherman and golfer at one time in my life, I would agree. I could also add a few other sports because of several humbling personal experiences.

Yet, there has been nothing more humbling in my life than the progression of a non-treatable disease. The progression attacks you physically, mentally and emotionally.

The impact on you physically is the most evident area. In the beginning there are only minor changes in your capabilities. You can always find some excuse that explains your inability to accomplish something. Over time, however, there are no more excuses and acceptance steps in.
The progression attacks you mentally also. Most of us have played some competitive sport where you ‘played’ with an injury. You ‘gutted it out’ ... mind over matter. As you progress, however, you no longer can gut it out. When the muscles stop working, it doesn’t matter how strong your mind (determination) is.
Finally, when it comes to emotions, the progression eats away at you almost everyday.
- Initially, it shows itself as fear. “My God, what is happening to me?”
- Later, it shows up as doubt. “What are we going to do if this gets any worse?” and “How long can I continue to work?”
- Even later, resignation sneaks in. “Oh crap, I never thought it would be this bad?” and, “Will this never end?”

Where I was once self-sufficient and confident, I often find myself in need of something or someone to just get through the day. Now that is humbling!

Acceptance is what I am working on today.

For without it, I will never be able to take the next step forward.

Are All Stem Cells Created Equal?

2011-10-27T10:28:00.001-04:00

The following is part two of a guest post from Ed Meyertholen. For those who receive the KDA xPress Newsletter, you saw this article in the Fall edition. Since the article is a little long for a blog, I broke it up into two parts.

Part II:

Are all stem cells created equal?

To begin stem cell therapy, obviously, one needs stem cells. Where do they come from? How does a researcher get them? There are, it turns out, several different sources for stem cells.

1. Embryonic Stem (ES) Cells: ES cells are the type that are the most controversial. ES cells are harvested from an early embryonic stage. They are capable of forming almost every possible cell type as these cells are the ‘authentic’ stem cells. In practice, these cells are acquired from embryos formed by in vitro fertilization (IVF). This is the same process by which infertile couples attempt to get pregnant using IVF.

The value of ES cells is that they truly can be differentiated into any cell type. In the case of KD, for example, they could be differentiated into motor neurons. These motor neurons could then be injected and hopefully, they will find the right area of the spinal cord, begin to mature and grow and make the correct neural connections to the muscle cells. In this way, they would replace the missing cells which should relieve the symptoms of KD.

2. Neural Progenitor Cells (NPC): These are a subtype of stem cells that essentially are partially differentiated into stem cells that can only become neural cells. These are found in more mature fetuses and in certain parts of adult brains. They can also be formed from ES. It is possible that these cells could be obtained from post-mortem brains or even collected from the brains of individuals undergoing neurosurgery.

It is believed that these cells can be induced to differentiate into almost any neuronal cell subtype, including motor neurons. Like ES, the NPC’s can be maintained and differentiated in a petri dish and then injected into patients.

3. Mesenchymal Stem Cells (MSC): These are stem cells isolated from bone marrow. These cells are primarily precursor cells for creating different types of bone and cartilage cells. There is evidence that it might be possible to ‘re-educate’ them to form nerve cells.

4. Induced Pluripotent Stem (iPS) Cells: These are cells that are generated from adult tissues (often a cell known as a fibroblast) and are reprogramed to become stem cells. Ideally, this would be a great way to obtain stem cells, however, there are technical and safety issues that need to be worked out before this becomes a viable source of stem cells.

Great Potential, but ...

Stem cell technology has great potential especially in regard to the treatment of diseases such as KD. We are, alas, many years from the realization of this potential. There are still several major technical barriers that must be overcome before it will be a viable therapy. For example, if one forms motor neurons from either ES or NPC, these will not have been derived from the patient’s own cells, thus there is a good potential for tissue rejection. On the other hand, if the cells a derived from the patient’s own cells (as would be the case for MSC or iPC), the cells that are injected would contain the same genetic defect of the cell that has died.

Another issue is how do the injected cells know where to go? In KD, there is a loss of motor neurons in the lower parts of the brain and all along the spinal cord. One would need to inject cells into all these areas. It is not possible to simply inject the cells into the blood – they would not make it into the brain. A more complicated surgical procedure would have to be used to place the cells in the correct areas.

Even if this problem is solved, the transplanted neuron must now grow and make the physical connections to the muscle cells, not just any muscle cells, but the cells that lost their connections. Assuming that this could be done, it is estimated that the growth of the new connections would likely take a year to complete. Of course, there is also a problem of how the rest of your brain communicates with the new, transplanted cells.

Each of us has conscience control over our motor neurons and this control is mediated by neural connections from our brain. These connections must be recreated in all the transplanted cells. What I am trying to say is that while the use of stem cells, no matter what their origin, has unparalleled potential to treat diseases such as KD, the actual use of stem cells to treat neurodegenerative diseases in clinical practice is years away.

An Important Point

Let me add one more point. One can search the internet and find many sites that advertise stem cell therapy for many different disorders. Some are legitimate and, sorry to say, many are not. At the present time, there are no proven clinical procedures using stem cells that will successfully treat KD. If you see a web page claiming otherwise, you should be very suspicious. Please, talk it over with your physician before you risk your money or your life on such treatments.

What are stem cells and what good are they?

2011-10-25T12:52:00.001-04:00

The following is a guest post from Ed Meyertholen. For those who receive the KDA xPress Newsletter, you saw this article in the Fall edition. Since the article is a little long for a blog, I am breaking it up into two parts.

Part I:

What are stem cells and what good are they?

One does not have to go very far to find articles dealing with stem cells. A 0.1-second Google search for “stem cell” returns over 31 million hits. These hits includes not only articles describing what stem cells are but also the possible use in helping treat a myriad of different maladies, from cancer and liver disease to spinal cord injuries and ALS. Also included are over 3.7 million hits dealing with the ethical issues of using stem cells. No matter what feelings you have about stem cell research, there is no doubt that that many believe that stem cells have the potential to revolutionize medical procedures – especially for those with neurological diseases.

In this essay, I will not venture into the ethical dilemma associated with stem cells but will restrict myself to the world of science. I will try to describe what are stem cells, how might they be employed to treat KD and what is the current state of the clinical use of stem cells for the treatment of neurodisorders. Since this is a fluid field and this is being written for a lay audience, some may find my simplifications too simple as I may have omitted some information. So please beware!

What are stem cells and what good are they?

Stem cells are undifferentiated cells that have the potential to become almost any cell type. What does this mean? I expect that most of you know that the human body is composed of lots of individual structures called cells. It is estimated that there are between 50-100 trillion cells in a typical human. The ancestry of all of these cells in one person can be traced back to one fertilized egg. This egg cell undergoes many cycles of cell division that will ultimately produce all the cells in one’s body.

It is important to understand, however, that not all cells are the same. We have liver cells, kidney cells, brain cells and even big toe cells. While each of these different cell types originated from the same fertilized egg, the properties and functions of these cells are quite different from each other. A kidney cell cannot, for example, do the work of a nerve cell; different cell types have different structures and different proteins that are specific for their respective functions. If one was to follow the process by which an egg cell becomes a liver cell, one would discover that there are chemical mechanisms by which a nonspecific cell ‘becomes’ a liver cell. This is a highly studied area of cell biology and you can imagine a complex one as well.

This same argument can be made for any cell type in your body. The process by which a specific cell type is formed from a general cell is known as differentiation and the changed cell is said to be differentiated. Once a cell becomes differentiated (that is, once it becomes a specific cell type), it is very difficult to go back and become undifferentiated. Essentially, it is tough to teach a differentiated cell a new trick. An undifferentiated cell that has the ability to become a differentiated cell (of any type) is a stem cell.

What makes this process more interesting and important is that some types of differentiated cells lose the ability to reproduce. Nerve cells are well known for this. In addition, for most nerve cell types (yes, there a many different types of nerve cells), there is no way in an adult to use new stem cells to make new neurons. This is because neuronal stem cells do not exist in most areas of the brain. Thus, once an adult loses a nerve cell, it is likely that there is no way to replace it and it and its function is gone for good.

In KD, for example, the key cause of symptoms is due to the death of motor neurons, a particular type of nerve cells that controls the contraction of muscle cells. There are no known mechanisms that are capable of naturally replacing a dead or missing motor neuron. Thus once it is gone, one loses the ability to use the muscle cells that it controlled and this ultimately is the cause of the symptoms suffered by KD patients.

What this all means is that in order to treat KD, one must be able to either discover a technique to keep the motor neurons from dying or to discover a process to replace those that have died. The more traditional attempts to treat KD have concentrated on the former approach. Researchers have been hunting for a ‘pill’ that will keep the motor neurons alive and well.

This was the goal of the dutasteride and leuprorelin clinical trials. To replace a dead motor neuron requires the development of new techniques by which stem cells are directed to become motor neurons, and then these new motor neurons are injected into the spinal cord. It is hoped that the new motor neuron can then be induced to make the same connections to the same muscles as did the old, dead motor neuron. As you may imagine, this is a very difficult set of procedures and it presents researchers with a formidable set of problems that they must overcome before stem cell treatment will be SOP.

Garbage In = Garbage out

2011-10-23T10:43:00.001-04:00

From the comments and emails I received, Terry Waite’s story of anxiety and depression moved a lot of people. It reminded each of us how fragile we are ... no matter what our façade. I have written countless times about ‘being the man’ and ‘manning up’, but we still have emotions and we all handle situations differently.

Over the last few months several spouses and significant others have contacted me. They were frustrated or hurt that the recently diagnosed men in their lives wouldn’t talk about how they are feeling. Each could see that their man was not handling it well. They all wanted to help, but felt shut out and unable to ‘be there’ for the person they love. It must be a terrible feeling watching a loved one go through something a traumatic as this and yet be unable to help.

Having someone to share your feelings with is an important part of the healing and acceptance process. I use the term ‘healing’ because the news often scars us mentally and emotionally. Before we can accept our situation, we must first heal our emotional wounds. The healing process is not easy and is often a painful experience. It is even more difficult when there is no one to share your thoughts and concerns with.

So, why do we push away the person we love the most? Do we really believe we can protect them by not talking? Or, do we believe that opening up will somehow change their impression of who we are?

Whatever the reason, it is wrong. At a time like this, our loved ones need more than ever to be let into our private world. They cannot help if we don’t allow them to know what is happening and what we are thinking. And, we need to come to terms with the fact that going down this path alone will cause more harm than good.

What happens if you do not have a spouse or significant other? Then seek out a good friend or family member that you trust. You’ll know who that is.
Further, if the situation remains problematic even after sharing then seek help from a professional. That doesn’t always mean a psychologist. It could mean your doctor, pastor, rabbi, or cleric.

The idea is to change your perspective because when something like this happens we tend to see the worst. It becomes difficult to focus on anything positive because we are feeding ourselves a bunch of ‘worst case’ scenarios. I will use an old programmers saying, “Garbage in = garbage out.” Our thoughts often become our worst enemy. And, that is why we must have someone to share your thoughts with.

The right person can help us work through our erroneous thoughts and be there for us as we move forward with out lives.

Enough said!

A Tale of Depression and Anxiety

2011-10-20T11:32:00.001-04:00

Today’s article is a guest post from Terry Waite, the co-founder of the Kennedy’s Disease Association. He wrote the article for the KDA’s fall newsletter, but I felt it needed a greater distribution because of its message.

Many of us with Kennedy’s Disease (aka Spinal Bulbar Muscular Atrophy) occasionally become a little down. These feeling can lead to frustration and even depression if we are not careful.

We often feel isolated. And, we occasionally wear the mantle of guilt (not wanting to be an anchor to our loved ones). Getting beyond those feelings is difficult. And, there are times when no matter how hard we try, we just can’t break out of this negative thought cycle.

Terry’s story is a powerful message and a reminder to all of us that occasionally we need to reach out for help.

Just do it!

Many of us with Kennedy’s Disease will suffer with depression and anxiety at some point as the disease progresses. I had always told myself that I could handle any feelings in my head that come along without help; I was wrong and almost DEAD wrong.

Over the past 6 months, I started on a downhill slide in my progression that seemed to have no end. About 5 months ago something very strange started happening to me. Most mornings, just as I awoke, I would be overtaken by anxiety and a deep emotional overflow that would have me in tears and I could not control it.
Along with this was the feeling that I wish I had died in my sleep. This would happen most mornings and seemed to get somewhat better as the day went on. However, at anytime during the day no matter where I was I would sometimes just breakdown into tears. I did some research online and found some interesting information.

One of the worst times for those with anxiety and/or depression is waking up in the mornings. When you come out of your sleep that is when your problems start. In the morning all the things that you have been suppressing come to the top of your awareness.

Morning anxiety is caused by debating with yourself …

Can I handle this?
How am I going to get things done?
Is this ever going to change?
How many more days like this before something changes for the better?

I found out that in the morning you get back in touch with your subconscious mind upon awakening.

Some people with anxiety oversleep to avoid life because it is horrible. At some stage when you are asleep you become detached from all your problems and your soul merges with pure consciousness and deep silence. You take a deep rest and feel at peace. At that stage, your problems have disappeared completely. When you are asleep, you have no problems. As you are waking up, you are aware that you are coming out of peace and your worries or concerns return.

This had gotten to the point that I was avoiding going places and even trying to do things because I had already set myself up for failure before I even started. My wife Susanne suggested that I should speak with my doctor and perhaps try a medication to help uplift my mood for a while because I was no longer able to control these thoughts.

I drove to the doctor's office and spoke with him for about an hour and a half about what was going on and he suggested I try Cymbalta to see if would help. I went home and took my first dose and the next day I started to feel improvement. Each day forward, I felt better. Within 3-4 days, I was waking up without the anxiety and depressive attacks. It also changed my outlook on trying to get out and do things and quit being ruled by the “what ifs” and the “I can't's”.

I had a 50^th Birthday coming up and Susanne had been trying for the past few months to get me to pick something special to do. I looked up tandem hang gliding on the Internet because I had always wanted to do that, but I found that all of them had a requirement that I be able to run 20 steps at a fast pace. That shot down that idea but I was determined to keep looking. A friend suggested that I do a Tandem Skydive. I had always said I would like to do it, but I started to get those “what ifs” and I can't's” again but this time my mind was more balanced and I was ready for it, and I said, “YES! I will do it!” I pushed those bad thoughts aside and was not going to let them ruin my life.

A couple other friends decided to join in – the three of us were going to sky dive, while Susanne, her mother and another friend were our ‘ground crew - pit party’. We caravanned 3 hours to the Lodi Parachute Center in Central California.

The jump facility was fantastic! I explained to them about Kennedy’s Disease and they thought that it was great that I came out to do this. They assigned extra help to assist me getting up into the plane (5 guys lifted me up), ordered a larger chute for a slower/softer landing and then my tandem instructor hooked me up to his rigging while en route to our jump spot. My instructor told me that the week prior, he had a man with no legs jump with him and he had a great time as well.

I was perfectly calm (more than the other first time jumpers). People said afterwards that they could see it in my face even seconds before the jump and I was to be the first one out of the plane. It was awesome and the landing was perfect even with my bad legs. My tandem professional jumper held my legs up and used his to plant the soft landing.

I am sharing a very personal story of mine because I know that many of you that will read this can relate. Some of you may be a little too close and if this story helps just one of you, I will be happy. If you feel the way I felt, see your doctor about the possibility of some extra help (even if just temporary) with perhaps some medication.

My next adventure is to find a place where I can do a tandem hang glide where there is enough updraft that I do not need to run to launch. I know they are out there because I have seen videos of it.

Therefore, for those of you who have stopped enjoying life because you are stopping your dreams before you even give them a try …

JUST DO IT

... or at least try. We can still do many things!

What is the Placebo Effect?

2011-10-18T09:44:00.001-04:00

The following is another guest post from Ed Meyertholen. I have written of the placebo effect a few times in my articles, but Ed has done a fine job of explaining how it happens and why it is important for researchers to be able to isolate it from their trials. This article was also included in the fall KDA xPress newsletter.

Even though it is a little long for a blog post, I could not find a good place to break it into two parts.

What is the Placebo Effect?

One of the difficult things in setting up any clinical trial for KD is determining what factors should be measured to assess the effectiveness of the treatment. This seems like a no-brainer – but to a researcher it is critical to the success of the study.

For those of you who were in the dutasteride clinical trial, you surely remember that different types of measurements were employed to assess the progression of the disease. The researchers were not sure what measurements were best and so hedged their bets by employing a myriad of different functional tests. Most of the tests dealt with objective measurements of muscle function (strength, for example, or how far one could walk in 2 minutes), but they also used some subjective tests, tests that tried to measure the quality of life. These latter tests were essentially questionnaires surveying how the patients felt about their physical condition and how well they felt they coped with the problems of KD.

An Actual Example

Dr. Gen Sobue’s research group just published a paper in which the compared two groups of patients with Kennedy’s Disease. This was not a report from a new clinical trial and it really offers no new insights on how to treat KD. Despite this apparent lack of relevance, I found the paper to be quite compelling. The data reported compared the rate of progression of KD in two groups of individuals, a group of men with KD that served as a placebo control in Dr. Sobue’s previous study of the effect of leuprorelin on the progression of KD (we will label these PG) and a second group of men with KD who were not part of any clinical trial, we will label them NTG.

So that it is clear, the PG group took a pill that had no therapeutic value for KD – simply, it was a sugar pill. However, they thought it was leuprorelin, a substance they were told would reduce the progression of their symptoms of KD. Since neither of these two groups received any real medicine, we would expect these two groups to show a similar disease progression over the time period of the study, 48 weeks. We will see that this is not exactly what happened.

In Dr. Sobue’s paper that served as the catalyst for this article, the progression of the patients’ KD symptoms was also measured by both objective and subjective tests. Specifically, they compared how certain clinical ‘outcomes’ from these two groups changed in a span of 48 weeks. One of the tests they performed was the distance that a patient could walk in 6 minutes – a measurement known as the 6 min walk distance (6MWD). They found that this distance decreased in both groups at about the same rate. This is not surprising as both groups had KD and were essentially untreated groups.

They also measured something known as the ALSFRS-R. This is a self-assessment questionnaire (thus subjective) that attempts to measures how a patient feels they perform normal activities. The patient would be asked, for example, how are you doing at walking (or climbing stairs or swallowing). The patient then scores their answer on a 5 point scale, the higher the number, the better they felt they were doing. The researchers found that the ALSFRS-R scores fell for both groups, but it fell significantly more slowly for the PG than it did for the NTG. So essentially, the PG, who thought they were receiving a drug that would lessen their symptoms, reported that they could function better than the NTG, the group that did not take any drug or treatment and had no preconceived expectations. This was despite the fact that both groups received nothing that would actually help them! Remember, there were no differences in an objective measurement (the 6MWD). Apparently, the idea that they expected to be helped by a drug was enough to make them feel that they were being helped.

Now this result is not groundbreaking research but I do think that it does have an important lesson for those of us with KD as well as those who are trying to cure KD. The results published by Sobue suggest that we need to be cautious when interpreting the results of a subjective test. The biases of the patients and the researchers can come into play in the form of a placebo effect.

Sobue defined the placebo effect as “the improvement resulting from psycho physiological effects such as a positive expectation for a new treatment by patients and raters or a subconscious desire to meet the attending doctor’s expectations.” In other words, the patients feel like they are getting better because they want to get better and not because they are getting better. It is common, I think, for people to underestimate the power of the placebo effect – it is real!

The Power of the Placebo Effect

As patients who have a disease that has no treatments, we need to be aware of the power of the placebo effect when we hear of possible therapies, especially if they are not from a reliable source. Let me give an example. Until recently, a company in Germany (they were able to do this in Germany due to a legal loop hole, no other EU country, not the US or Canada would let them do what amounted to experimental surgery) advertised a safe and effective treatment for KD (as well as a host of many other neurological diseases) using stem cells.

At this time, this is no effective standard stem cell therapy for KD or the other diseases they claimed to cure. The website for this company referenced patient surveys to indicate efficacy of their treatment – I had not seen any reference to any objective data and they have not published any clinical trials. To no one’s surprise, they claim that something like 50% of the patients reported that they thought that the stem cells made them better.

Now if you think of these results in light of the Sobue paper, we have a group of individuals who desperately want to get better, so much that they spent tens of thousands of dollars to go to Germany and get this ‘treatment’. Just as in the PG group described above, this group felt like they were getting better when you asked them. But did they really get better? We cannot know for sure as there were no objective tests employed to verify that the disease progression had really been slowed.

Using patients from a similar clinic in China, a group of researchers did find that despite the reports from patients that they were better, objective criteria showed this was not the case. The stem cell treatment was not effective. This appears to be a classic case of the placebo effect. As an aside, the company in Germany has been closed by the German government after at least one patient died due to the stem cell treatment.

The ‘take home’ message from this is that we have to be alert and be able to differentiate viable treatments from scams and hearsay. Before embarking on any exotic treatment, look for objective evidence that it really works and always make such decisions in concert with your doctor.

Eight Month Update on Dutasteride

2011-10-16T10:16:00.001-04:00

It has been another good month. My ‘every-other-day’ exercise program averaged 112 minutes. My short program (the light days) averaged 18 minutes. I find myself having to cut back on the number of reps I am doing because they have become so easy that I could go on for another 20-30 minutes without a problem. I am sure muscle memory plays a part in this factor.

I keep on wondering if this is the placebo effect, but the longer I feel this way the more I tend to discount it because it has lasted eight months.

I continue to keep my dutasteride journal and hope to review it with my doctor in December. He is most interested in how things are going.

When I woke up last Thursday morning I noticed a weakness (more than normal) in my right arm. All day the weakness was evident. Fortunately, when I woke up Friday morning the arm was back to normal. Also, I noticed during my long exercise routine that the right arm was actually stronger than normal. Go figure!

The neck weakness I wrote about back in May has not reappeared. The week of the weakness had me concerned, but fortunately it was just another Kennedy’s Disease anomaly.
And, still no apparent side effects.

Fall is in the air and my next challenge will be how I hold up this winter. The cold is tough on me ... especially my four walks a day with Fred, my beagle. I already have the ‘hand warmers’ out because morning temperatures will be in the high 30s by Wednesday. I’ll take it “one day at a time” and hope that things continue to go well.

KDA Awards $65,000 in Research Grants

2011-10-14T10:23:00.001-04:00

Thanks to the generosity of its supporters, the Board of Directors of the Kennedy’s Disease Association announced today that they awarded three research grants. The three recipients and a brief explanation of their research are shown below.

_________________________________

1. Masahisa Katsuno, M.D. – Ph.D., Department of Neurology, Nagoya University Graduate School of Medicine

Amount Awarded: $25,000

Proposal: Elucidation of neuronal death signaling pathways and development of disease-modifying therapies for Kennedy’s disease

Brief Explanation: Their lab has evidence that the synthesis of two proteins are affected by the defective androgen receptor in KD. They wish to determine if neuronal cell death is caused by the alteration in the levels of these proteins and if cell death can be prevented by the addition of drugs that target the activity of these proteins.

2. Elise Kikis, Ph. D., Northwestern University

Amount Awarded: $20,000

Proposal: Modeling SBMA: from understanding proteotoxicity to identifying therapeutics

Brief Explanation: They believe that the specific cell death is due to the
accumulation of misfolded proteins (the androgen receptor) and the inability of cells to handle this accumulation. They propose to use a new model organism (a little worm called C. elegans – a very common and important model system in biology) to examine how different cell types handle the misfolded proteins and genetically look for other proteins that may help the cell get rid of the messed up proteins.

3. Sara Parodi, Ph.D., Department of Neuroscience and Brain Technologies, Genoa, Italy

Amount Awarded: $20,000

Proposal: Identification of PKA signaling as a new therapeutic approach for SBMA

Brief Explanation: There is evidence that the cell death may involve changes to the androgen receptor (specifically changes in which phosphate is added to the protein, a process called phosphorylation). They hope to determine whether this cell death can be stopped due to the activation of another protein, known as PKA.

Good News for the Rare Disease Community

2011-10-11T13:41:00.001-04:00

This morning I received a news release from NORD. This is good news for those of us living with Kennedy’s Disease. When a treatment is discovered, we would hate to see something that works tied up in ‘red-tape’ (a long approval process).

The last two paragraphs of this news release summarize the findings and reason for the study.

LANDMARK NORD STUDY CONCLUDES FDA IS FLEXIBLE IN REVIEWING THERAPIES FOR RARE DISEASES

Study Catalogues Flexibility in Orphan Drugs Approved Since 1983

Washington DC, October 11, 2011 - “The National Organization for Rare Disorders (NORD) today released a landmark report documenting flexibility in the Food and Drug Administration (FDA) review of potential treatments for patients with rare diseases.

Released at the U.S. Conference on Rare Diseases and Orphan Products, the report examined the basis for FDA’s approval of 135 non-cancer “orphan drugs” … those for rare diseases since the Orphan Drug Act was enacted in 1983 to provide incentives to encourage development of treatments for rare diseases.
This is the first study of its kind ever conducted and the first time that there has been a systematic

examination of the basis for approval for any category of drug products extending over such a long period of time. The study demonstrates a decades-long pattern of flexibility in FDA review of orphan drugs.

Frank J. Sasinowski, chairman of the NORD board of directors and author of the report, said: “We wanted to determine whether FDA requires that orphan drug applications provide the conventional effectiveness data that are ordinarily expected for most drugs for more prevalent diseases, or whether the agency has over the years exercised flexibility in approving drugs for patients with rare diseases. This issue is critical to the patients and families NORD serves because the patient population available for testing of orphan drugs is, by definition, more limited than for drugs for more prevalent diseases.”

NORD President and CEO Peter L. Saltonstall said: “We are gratified that this extensive study, spearheaded by NORD on behalf of the entire rare disease community, found that there is supportable evidence to document flexibility by FDA medical reviewers. This study should provide an extra level of confidence for investigators, companies and investors who are considering developing new drugs for rare diseases.”

While any disease affecting fewer than 200,000 Americans is defined by law as “rare,” many rare diseases affect only a few hundred or a few dozen people. Conducting the clinical studies required to develop treatments for these diseases poses special challenges to medical researchers, the report pointed out.

The NORD study looked at all drugs for diseases other than cancer approved as orphans since 1983 to identify when flexibility was employed in the review process. The evaluation process distinguishes between flexibility applied as a result of a previously described FDA system, such as the accelerated approval program, or on a case-by-case basis.

For each of the non-cancer drugs approved as orphans since 1983, NORD sought to access the FDA approval letter, the labeling at the time of approval, the decision memoranda of the FDA officials who approved the products, and the reviews of the medical and statistical officers. While such documents were retrievable in most cases, only subsets of those documents were recoverable for some drugs, especially for some of the earliest approved orphan therapies.

The drugs were then divided into three categories: those that, in NORD’s judgment, would have met the traditional data requirements for effectiveness; those whose approval was based on flexibility applied as a result of some documented FDA system for flexibility; and those whose approval appeared to reflect case-by-case flexibility.

Of the 135 drug approvals studied, NORD concluded that 45 would have met traditional data requirements, 32 reflected “administrative flexibility” based on a previously documented FDA system, and 58 reflected flexibility applied on a case-by-case basis.

“This review of FDA actions concludes that two of every three orphan drugs approved show FDA’s historic flexibility in its review of effectiveness data on orphan drug therapies, ” Sasinowski said. “Therefore, FDA has demonstrated in its actions on orphan products that it recognizes the importance of therapies for persons with rare disorders. It would be helpful for such flexibility and importance to be recognized in a formal FDA policy, and for FDA officials to incorporate and recognize that flexibility in a systematic way in their evaluations of each new therapy in development and under FDA review for Americans with any rare disease.”

Saltonstall added that NORD undertook this study because, of the nearly 7,000 known rare diseases, only about 200 have FDA-approved treatments. “Better understanding the regulatory process and the pathways most likely to lead to increased study of rare diseases and safe, effective treatments for patients is very important to us,” he said.

An All-Terrain Wheelchair – Alright!

2011-10-09T13:58:00.001-04:00

I have been an outdoors person (a nature lover) since I was a kid. Hiking in the woods or mountains were my favorite pastimes. I miss not being able to just go without thinking about capabilities, getting stuck, or worrying about the weather.

Well, Mike Goynes called me yesterday to discuss the ultimate ‘power’ wheelchair. He found it online and wanted to share his ‘dream-chair’. There is an old saying, “The only difference between men and boys is the cost of their toys.” This chair proves it is true!

It is the Viking 4x4 All Terrain Wheelchair. The six videos of what this baby can do are amazing. I not saying that I would want to try everything they demonstrated, but it is something else to watch.

This bad-boy appears to handle it all without much trouble. It has four-wheel drive and over 4” of ground clearance that allows it to climb stairs or curbs, go up and down steep hills (up to 36 degrees) and comfortably cross beaches of loose sand or mud while still turning on a dime, if necessary. And, after watching the videos I can also see why you might want the four-point seatbelt option.

Even more fascinating is the seating system. “The Viking 4 X 4 has an automatic digitally programmed vertical seating system that maintains a vertical position at all times. Weather climbing a hill or going down a hill the driver will always be able to maintain a vertical position.”

The chair even comes has two sets of tires available (standard and ‘all-terrain’). Even with all these capabilities, it can still travel at 4 mph and run for up to 19 miles without needing a charge.

I had no idea how much this baby would cost ... $15-20,000 was my best guess. I was shocked to see a sticker price of <$10,000 with free shipping. There is even a promotional coupon that takes another $800 off the price.

Yup, that is still a lot of money, but boy would it be fun.
A man’s gotta dream, right!

Acceptance is an on-going process

2011-10-06T10:34:00.001-04:00

I read a good article the other day in the “Balance in Me” blog on Natural Spirituality. Ms. Goers provided several practical steps to help uncover your natural spirituality. While reading the article I realized that several of her points were very appropriate for those of use learning to live (accept) Kennedy’s Disease.

1. Stop being in control: “... you need to let go of several beliefs, and the myth of control is the first one to go.” If you are anything like me, having confidence in your abilities was important. I was good at many things and trusted that I could learn what I did not know. As my disease progressed, however, the confidence in my body’s ability to hold me upright or perform certain normal tasks eroded. Too often my body has let me down. Since there is little I can do about it and because it is going to get worse, letting go (stop trying to be in control) becomes an important part of the acceptance process.

2. Spend more time in nature: “Open up your eyes to this world right now and stop spending so much time behind the screen of your computer or your smart phone.” This always works for me. I spend about two hours every day outdoors. Nature never seems boring. There is always something happening with birds, animals, insects as well as the flora. By just sitting, listening and watching another world unfold right in front of me helps to take my mind off most of the negativity associated with Kennedy’s Disease.

Miracles exist. They happen every day in our world. Just being an observer makes me a participant in these miracles. Just being an observer causes my mind to refocus itself on the beauty and magnificence of the world I live in.

3. Keep asking yourself, “What is the meaning of all this?”: The “why me” and “this can’t be happening to me” questions have to end at some point. By asking “what is the meaning of this” regularly, I am forced to come to terms with my inability to control many things in my life including some health issues. I did not cause this to happen. I am not to blame nor is anyone else. It just happened. Once I believe that, I need to ask some other personal questions:

What can I learn from this situation?
How can I make it better for everyone involved (family, friends, etc.)?
How does this change me and my situation?

4. Start enjoying life ...: “Your life is not just about you, it is also about people around you. We are all connected in one way or another and our actions and words can influence the lives of people around us. Start living for others the same as you live for yourself by being generous and grateful.” Getting beyond the grieving, fear and anger is important. Until I do, it is almost impossible to enjoy life (this beautiful world that I live in). Once I can begin living again, I can become a more ‘beneficial presence’ in my world.

One more important point

Being that we are learning to live with a progressive disorder, the “one and done” solution no longer applies.

Acceptance is an ongoing process. Accepting that we have the disease is one thing. However, learning to live with the disease as it progresses becomes a challenge. The steps above will help us “live” a life that is both loving and beneficial.

Rules to Live By

2011-10-04T10:53:00.001-04:00

This weekend my wife showed me an article in the Chattanooga Sunday paper titled, “Four Rules for Living” by Dr. Nell Mohney. She interviewed a fifty year old woman with multiple sclerosis (MS) in 1999 who had been introduced to her by a friend. Zoe Koplowitz had lived a normal life until she was diagnosed with MS at the age of 25. Multiple Sclerosis is a chronic, progressive and disabling disease of the central nervous system that eventually leads to paralysis and blindness.

When Dr. Mohney interviewed her, Zoe had just finished her eleventh New York City Marathon, finishing the 26 miles in 30 hours. Can you imagine … 30 straight hours? That is amazing.

Ms. Koplowitz went through some of the same shock, why me and denial that most of us do when something like this happens. Over time, however, she accepted her situation and developed four rules to live by. As a result of her marathons, she wrote “Winning Spirit – Life’s Lessons Learned in Last Place.”

Zoe Koplowitz’s Four Rules to Live By:

1. If you don’t like what you see, change the channel. She believes God gives each of us a TV set with 100 channels. Only one channel has static ... reflecting on our disease, problems and difficulties. You can sit in front of the one channel with static, or you can change the channel. (It is your choice and she obviously changed the channel)

2. Have a mission or purpose in life. Zoe’s mission is to help children trapped in inner-city ghettos to develop confidence and self-esteem. She accomplishes this by visiting inner-city schools with other disabled athletes and telling them what it means to win. She also leads Marathon Strides for MS to raise funds for research.

3. Decide to be a winner. You can either pursue your dreams or fall by the wayside. The choice is yours.

4. Live your life with courage, faith and laughter.

Dr. Mohney said that there is no doubt Zoe Koplowitz lives by these rules. After a ten minute conversation with her, you will be motivated to change the channel if you are still on the station with static.

Learning to live with any disease is difficult. However, we are all born with free-will … the ability to choose how we will respond to adversity and what our purpose in life will be.

After reading the article I came up with four questions that I need to ask myself regularly.

Will I recognize that the only disability in life is a bad attitude?
Will I be a beneficial presence in this world?
Will I inspire others by my words and actions?
Will I look for opportunities to help another person or creature today?

The choice is mine to make.

Testosterone Treatment Fails to Accelerate Disease

2011-10-02T11:30:00.001-04:00

Ed Meyertholen came across this research paper on Kennedy’s Disease and the effect of testosterone on the disease. Previously it was assumed that since testosterone appears to be the instigator of the onset of Kennedy’s Disease as well as the failure of a testosterone trial in 1999, that testosterone injections would be more harmful.

This research report indicates that there appears to be no harm to mouse models when given additional testosterone. As Ed indicated in his email to me, however, this testing was done on mice and not on humans.

Testosterone Treatment Fails to Accelerate Disease in Mouse Models

Doctors Erica S. Chevalier-Larsen and Diane E. Merry reported in Disease Models & Mechanisms:

Transgenic AR112Q and non-transgenic mice were implanted with timed-release pellets designed to deliver 4-6 ng/ml of testosterone for 90 days. Over the course of the experiment, implantation of testosterone pellets increased circulating testosterone an average of threefold, from 0.40±0.23 ng/ml; this is a significant elevation of testosterone levels in treated animals over those implanted with placebo pellets. Although 90-day testosterone pellets were used, we observed a decline in potency of the pellets by the end of the 90-day period (months three and six).

Implantation of new pellets at the end of 90 days restored circulating testosterone levels. Although circulating testosterone was elevated in treated mice, motor function assays did not reveal any effect of testosterone treatment on phenotype. Motor function assays were performed monthly for 6 months; results were consistent for all 6 months of treatment. Beginning at 3 months of age (1 month following treatment), AR112Q males showed decreased rotarod performance, regardless of T-treatment, when compared with non-transgenic T-treated males.

The entire report can be read by following this link to download the paper: Research Report (PDF)

NIH TO MAKE A MIGHTIER MOUSE RESOURCE FOR UNDERSTANDING DISEASE

2011-09-29T13:48:00.001-04:00

The following press release from the National Institute of Health was received this morning. As many of you know, the knockout mouse model is used for much of the Kennedy’s Disease research that is performed today. This release explains the phase II approach for developing additional knockout mouse models to further support research.

The first three paragraphs summarize the announcement.

___________________________

U.S. Department of Health and Human Services
NATIONAL INSTITUTES OF HEALTH NIH News
National Human Genome Research Institute (NHGRI), <http://www.nhgri.nih.gov/>

For Immediate Release: Thursday, September 29, 2011

Over the next five years, National Institutes of Health (NIH)-funded researchers will extensively test and generate data about mice with disrupted genes to gain clues about human diseases. NIH today awarded a set of cooperative agreements totaling more than $110 million to begin the second phase of the Knockout Mouse Project (KOMP).

The results of the next stage, called the Knockout Mouse Phenotyping Project, or KOMP2, will be placed in a public database. Researchers make knockout mice by disrupting the function of individual genes across the animal's genome.

KOMP2 is a trans-NIH and NIH Common Fund project that will work with other members of the International Knockout Mouse Phenotyping Consortium (IMPC) to generate about 5,000 strains of knockout mice that will undergo a large battery of clinical phenotype tests. A phenotype includes biological information about appearance, behavior and other measurable physical and biochemical characteristics. Such information will help reveal how all traits are affected by deleting a given gene in an individual mouse.

In the long term, the project aims to enable the research community to establish the traits associated with the function of every protein-coding gene in the mammalian genome. Such information will be valuable for the discovery of the genetic causes of human diseases and will aid efforts to identify new drug targets.

"The generation of detailed phenotypic information for each knockout mouse strain will be a boon to disease researchers who want to determine the function of genes and to improve mouse models of human disease," said NIH Director Francis S. Collins, M.D., Ph.D. "I am grateful to all of the people and programs across NIH who are supporting this effort and to our international partners who have joined us in this scientific endeavor."

In partnership with several international programs, the initial five-year phase of KOMP will reach its goal of creating knockout mouse embryonic stem cell lines for each of the approximately 21,000 protein-coding genes in the mouse genome this year. The International Knockout Mouse Consortium (IKMC) includes the Knockout Mouse Project (KOMP), U.S.A.; the European Conditional Mouse Mutagenesis Program (EUCOMM) funded by the European Commission: the Texas A&M Institute for Genomic Medicine (TIGM); and the North American Conditional Mouse Mutagenesis Project (NorCOMM) funded by Genome Canada.

"NIH is committed to making knockout mouse models more widely accessible to the biomedical research community," said James Battey, M.D., Ph.D., director of the National Institute on Deafness and Other Communication Disorders (NIDCD), who is also a co-chairman of the Trans-NIH Mouse Initiative. "Getting these valuable models into the hands of a wide range of researchers will serve to accelerate our efforts to develop new strategies for understanding and treating human disease."

During the next five years, KOMP2 will transform the knockout mouse embryonic stem (ES) cells into adult mice for 2,500 lines of well-characterized knockout mice strains, and IMPC will create about 2,500 additional knockout mouse strains. Each mouse will undergo the same standard analysis so that the results can be compared for all of the mice tested. NIH has awarded six cooperative agreements to three groups to establish production and phenotype centers for the project.

"It is going to take a great deal of scientific teamwork to assimilate phenotypic information about this knockout mouse resource, but we are confident in the team that has been assembled to accomplish the task," said National Human Genome Research Institute (NHGRI) Director Eric D. Green, M.D., Ph.D. NHGRI is involved in the planning and administration of KOMP2.

The National Center for Research Resources (NCRR) will administer the awards for the production centers, and NHGRI will administer the awards for the phenotyping centers. NCRR and NHGRI are components of the NIH.

The funded groups will all receive a total of approximately $34 million and are expected to produce and phenotype 833 strains of knockout mice each for a total of about 2,500 knockout mouse lines. Recipients of the awards are:

Baylor College of Medicine, Houston. This center will collaborate with the Wellcome Trust Sanger Institute in Hinxton, England and the Medical Research Council (MRC) Harwell in Oxfordshire, England.
University of California, Davis. This center will collaborate with the Toronto Center for Phenogenomics in Canada, Children's Hospital Oakland Research Institute in California, and Charles River Laboratories in Wilmington, Mass.
The Jackson Laboratory in Bar Harbor, Maine.

"This resource will enable many more researchers to tap into the power of knockout mice for exploring gene function, which in turn will speed our efforts to improve human health," said Louise E. Ramm, Ph.D., acting director, National Center for Research Resources.

In addition to the production and phenotype centers, NIH awarded a five-year, cooperative agreement totaling $10 million to the European Bioinformatics Institute in Hinxton, England, which will collaborate with MRC Harwell and Wellcome Trust Sanger Institute to set up a data coordination center and database to track progress of the project and to coordinate efforts between KOMP2 and IMPC researchers. In addition, this center will build an integrated Web portal that will provide researchers access to the phenotype data.

The mouse is a key mammalian system in which to produce a genomics resource because of the long history and depth of understanding of mouse genetics and the availability of the mouse genome sequence. What's more, researchers have made advances over the last several years in improving the efficiency and decreasing the cost of generating knockout mice.

Historically, researchers have generated their own lines of knockout mice to serve as models for human disease, such as heart disease or cancer. However, rather than generating a detailed and comprehensive phenotype of the mouse, they often are only interested in a handful of phenotypes. For example, a researcher interested in cardiovascular disease may only want to examine the effect of a disrupted gene on blood pressure.

This single-lab approach can be expensive and inefficient. A researcher with access to a low-cost knockout mouse that has been extensively phenotyped can focus his or her time and research budget on more in-depth research questions rather than spending it on producing a knockout mouse about which the researcher has limited information.

KOMP2 and IMPC researchers will begin by creating lines of knockout mice from embryonic stem cells produced by KOMP. The 5,000 genes that will be knocked out will be selected from nominations already submitted by the research community.

Many of the selected genes will be used to study disease processes and underlying mechanisms. Others will be selected based on the genetic variations associated with the human diseases that have been uncovered by genome-wide association studies.

Statistically, about 25 percent of the mouse pups will inherit both copies of the knocked out gene, while their littermates will have only one copy and be heterozygous, or normal. The knockout mice and the healthy littermates will both undergo a battery of more than 400 phenotype measurements at multiple times during their lives. Tests will include X-ray imaging, magnetic resonance imaging (MRI), blood exams, balance tests, and urine and fecal analysis, to name a few. Both the knockout and normal phenotype data will be made available through the KOMP2 data coordination center so that researchers who acquire and study the knockout mice can compare various phenotypes.

"We want to characterize each line of mice broadly with no assumptions about what the gene is or is not doing," said IMPC Executive Director Mark Moore, Ph.D. "If you think of the function of a gene as a needle in a haystack, we're removing the haystack so you can see what the needle does."
At the end of the initial five years of the effort, the NIH and IMPC will evaluate the usefulness of the resource to the research community. If the evaluation is a positive one, both efforts may scale up to create and phenotype a total of 12,000 more knockout mice.

Once each knockout mouse is phenotyped, researchers can obtain information on what knockout mouse lines are available and how to order them from the University of California Davis KOMP Repository. To access the IKMC Web portal, please go to <www.knockoutmouse.org>.

The 18 NIH institutes, centers and offices contributing to the Knockout Mouse Project are: the NIH Office of Strategic Coordination/Common Fund; NCRR; the National Eye Institute; NHGRI; the National Heart, Lung and Blood Institute; the National Institute on Aging; the National Institute of Alcohol Abuse and Alcoholism; the National Institute of Arthritis and usculoskeletal and Skin Diseases; the Eunice Kennedy Shriver National Institute of Child Health and Human Development; NIDCD; the National Institute of Dental and Craniofacial Research; the National Institute of Environmental Health Sciences; the National Institute of General Medical Sciences; the National Institute of Mental Health; the National Institute of Neurological Disorders and Stroke; the National Institute of Diabetes and Digestive and Kidney Diseases; the National Cancer Institute; and the Office of AIDS Research.

For more information on the Knockout Mouse Project, go to the NIH Knockout Mouse Project. For a fact sheet describing what knockout mice are, how they are made and what they are used for, go to Knockout Mice. To download a high-resolution photo of knockout mice, go to <www.genome.gov/pressDisplay.cfm?photoID=5006>.

Straighten up and let gravity be a friend

2011-09-28T11:46:00.001-04:00

Earlier this month I wrote an article called, “Gravity is the Enemy.” Today’s article is going in a different direction, but also deals with the subject of gravity and loss of mobility.

The CostCo Connection magazine had an article this month written by Jennifer Nelson. The title was, “A Matter of Gravity ... Too much sitting can compromise your health.” Boy did that title grab my attention.

Ms. Nelson interviewed Joan Vernikos, a former NASA scientist and the author of “Sitting Kills, Moving Heals.” Ms. Vernikos explained what happens to astronauts when they return to earth after being weightless for months. The author then equates what astronauts go through when they come back to earth as to those of us who sit more than stand.

She comments that conventional wisdom would suggest that if you watch your weight and get aerobic exercise a few times a week, you’ll offset your sedentary downtime. Yet, recent research believes this is not true. Ms. Nelson goes on to explain that “sitting is equivalent to what happens when you quit using gravity. When you stand up, gravity pulls on your body from head to toe. When you sit down, that distance is smaller, and if you allowed gravity to have its way, you’d be crumpled on the floor.” [Been there, done that a few times]

If we do not use gravity to keep our muscles strong, then the body does not get the stimulation it needs to remain healthy. Ms. Nelson goes on to explain that a host of health issues can evolve including high blood pressure, obesity, osteoporosis, diabetes, etc. To further complicate the problem, if we do not sit correctly (slumped shoulders, rounded back, legs tucked under or crossed, leaning forward, etc.) we can complicate the problem causing neck and back pain as well as other health issues.

What can those of us do that have problems standing or walking? Joan Vernikos recommends that we stand every 20-30 minutes even if we don’t walk around. Sara Daily, a physical therapist, recommends changing positions frequently, squeeze your shoulders together, and flex and point your ankles. The point is to continue using those muscles even if sitting and to take regular breaks from sitting. Ms. Daily also recommends that no matter what position you are in (sitting or standing), do not slouch. You need to:

Sit or stand straight.
Keep your feet flat on the floor.
Keep your head straight and your shoulders back.

Also, when at home lie down and elevate your feet above your heart for a few minutes each day to improve circulation.

When we are forced to become less mobile because of the progression of Kennedy’s Disease, we need to be even more vigilant in our attempt to remain healthy. It is easy to become a little lazy. However, doing nothing is also bad for your health.

Standing frequently, even if only for a few minutes at a time, can make a lot of difference. Straightening and lengthening the body is also helpful. Exercise, whether standing or sitting, is extremely important. “If you don’t use it, you will lose it” [in our case a little quicker than most].

The best advice I can give is to “be aware” of your body’s position and let gravity help keep your muscles stimulated.

Happiness is just a state of mind

2011-09-25T11:04:00.001-04:00

Wikipedia defines “Happiness” as a mental state of well-being characterized by positive emotions ranging from contentment to intense joy.

Have you ever noticed that children are naturally happy. And, a child’s laugh can make anyone, no matter what their age, laugh.

What happens to that natural happiness as we age? When did life become so serious that it could no longer be enjoyed?

The other day I was reading this article by Hannah Booth on some research performed in the United Kingdom. LSE professor Richard Layard and Dr. Anthony Seldon, aim to create positive social change. They have a movement called “Action for Happiness” with the core idea that we should try to create more happiness in our world.

The movement also developed a list of fifty activities that can help make positive changes in our lives. The activities include:

Do kind things for others
Look for the good in those around you
Get help if you are struggling
Help out someone in need
Try something new and different
Understand each other’s needs
Balance work and your social life

Ms. Booth decided to try some of the action steps to see how they would work in making her happier. The article reviews her attempts and the results.

Being Kind

Doing kind things for others strengthens our connection with them and builds trust ... particularly with strangers. These random acts of kindness lead to happier communities. My daughter uses the term “pay it forward” (a great movie if you haven’t seen it).

Give Thanks

Write down every night at least three things you are grateful for that day. By listing these things it can make you feel better almost immediately because they change our perception of how things went that day. Mark Williamson, the director at Action for Happiness, puts it this way. "It's not about ignoring bad things, but asking, did anything good happen today? You can usually find something."

Being Mindful

Relax a little and contemplate or meditate. Set aside time every day (as little as ten minutes) to just relax. Sit comfortably in a quiet area and focus on your breathing. Don’t try to shut out your thoughts, but just allow them to flow without focusing on anything except your breath. This can be especially powerful in a natural setting such as a park or your backyard. As you relax and let your thoughts flow, stress begins to dissipate from your body. After a few days, your perspective of life will change providing you with more energy and a sense of wellbeing.

Write a Letter

Write a letter thanking someone that you are grateful for. Once you have written the letter, read it to them. This experience will make both you and the person you are thankful for happy. According to Mr. Williamson, this effort also lets others know what they did that you value. And, if people know, then they are more likely to do it again. Ms. Booth was very uncomfortable initially reading the letter, but was amazed at the result ... immediate and later.

The comment from Thoreau above is so true. We cannot make ourselves happy just by wanting it to happen. We have to first create a calm, loving and grateful environment. Once this is achieved we will see the good that surrounds us.

While reading this article, it brought to mind a couple of thoughts:

The only handicap in life is a bad attitude. Like happiness, attitude comes from within.
We create our own world by how we perceive it. How I see events in my life decides how I will live my life.

I hope you have a happy day

Links:
Article Mentioned Above: Pursuit of Happiness
Action Steps: 50 Activities

I’m Selfish!

2011-09-23T11:11:00.001-04:00

Last winter I participated in a survey coordinated through the Departments of Communication at the Universities of Arizona and Michigan State. The survey interested me because it was sent to 300 bloggers who write about their health issues. (I didn’t know there were 299 other crazy people out there) I was sent the executive summary of the study this week and found it interesting and thought provoking.

Summary of the Study

The study was set up in two parts. The first examined the relationship between blogging about health and the social support from the blog readers. The researchers found the following:

“The frequency that bloggers posted was consequential. The more posts bloggers made per week in the six weeks prior to completing the questionnaire, the more they believed they received support from readers.
The consistency of reader comments was important. Bloggers with a greater proportion of posts with at least one comment believed that they received more support from readers.
The support received from blog readers was influential. The more bloggers believed they received support from readers, the more bloggers felt they could positively impact their own health.
For those bloggers who believed they did not receive much support from family and friends, support from readers was especially beneficial.”

The second survey was seven weeks later. This survey’s results showed that writing about health can be therapeutic and then examined what benefits were derived from the blogger writing about their health. It found that the types of words used by bloggers affected the blogger’s perception of their health.

“Use of “insight” words (meaning words like “understand” and “realize”) were associated with a reduction in the uncertainty bloggers felt about their health. Use of insight words indicates that one is making sense of or gaining insight into an experience.
For those bloggers who made more frequent posts per week, compared to those who posted less frequently, the use of “insight” words was associated with increased perceptions that life has meaning.
Bloggers’ use of words that reflect negative emotions were associated with words that reflect both positive and negative emotions in reader comments.”

The researchers then summarized their findings. “Across the two studies, the findings appear to suggest that bloggers who write about their experiences with health conditions can obtain benefits, such as increased feelings of support and decreased uncertainty about health. ... we believe that blogging about health has the potential to be a valuable and rewarding experience.”

Self-Analysis

When I first took the survey, it gave me an opportunity to reflect upon (better understand) why I blog. What was I trying to accomplish?

Was I being selfish and looking for support?
Did I feel I could impact others by writing about my experiences and understandings of living with Kennedy’s Disease?
Was I trying to reach another audience?

For some time I have felt that writing this blog three times a week kept me from being a more serious writer (short stories and my novel). I find it difficult to switch gears. When I write I like to get into character (imagine living the lives of the antagonist and protagonist). I also used the blog as my excuse for not starting the rewrite of my book.

If this was true, then why did I continue to blog?

The ugly truth was that I am a little selfish.

I love feedback ... both positive and negative. It tells me someone read my blog and felt compelled to comment about the topic or my perspective.
The more feedback I receive the more inspired I am.
I like to know that I in some way helped others.

I also found that the more feedback I received ...

The more I wanted to write (it was my inspiration).
The more subjects I wanted to tackle.
The more I felt I could help others to cope with this ugly disease.

I guess my reasons aren’t all bad, but this self-examination was an eye-opener.

Cold Feet!

2011-09-20T13:53:00.001-04:00

Kennedy’s Disease has a number of symptoms. One symptom that is hardly ever listed is neuropathy. Until a few years ago, it was never even mentioned.

Wikipedia explains peripheral neuropathy as follows:

Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of or trauma to the nerve or the side-effects of systemic illness.

The most common form is (symmetrical) peripheral polyneuropathy, which mainly affects the feet and legs. Neuropathy may be associated with varying combinations of weakness, autonomic changes, and sensory changes. Loss of muscle bulk or fasciculations, a particular fine twitching of muscle, may be seen. Sensory symptoms encompass loss of sensation and "positive" phenomena including pain. Symptoms depend on the type of nerves affected (motor, sensory, or autonomic) and where the nerves are located in the body. One or more types of nerves may be affected. Common symptoms associated with damage to the motor nerve are muscle weakness, cramps, and spasms. Loss of balance and coordination may also occur. Damage to the sensory nerve can produce tingling, numbness, and pain. Pain associated with this nerve is described in various ways such as the following: sensation of wearing an invisible "glove" or "sock", burning, freezing, or electric-like, extreme sensitivity to touch.

Medical News Today describes sensory neuropathy as:

Sensory nerve damage can cause various symptoms, such as an impaired sense of position, tingling, numbness, pinching and pain. Pain from this neuropathy is often described as burning, freezing, or electric-like, and many report a sensation of wearing an invisible "glove" or "stocking". These sensations tend to be worse at night, and can become painful and sever. On the contrary, sensory nerve damage may lead to a lessening or absence of sensation, where nothing at all is felt.

Today, neuropathy is more widely accepted as a symptom for many of us living with Kennedy’s Disease. Knowing about something is one thing, but living with it is something else.

Let me digress for a moment. I hate cold feet!

One change that has bugged me in recent years is my cold feet. I was the one in the family that didn’t use a blanket except a light one in the winter. I was the one that my wife stuck her freezing cold feet on when she first crawled into bed. About eight years ago I noticed that I needed a blanket all year round. Even worse, my feet never seem to get warm. In bed I can have three blankets on my feet and they still feel cold. I now have to wear socks to bed in the fall, winter and spring. I also need an electric blanket during the winter ... something I never used before.

Guess what? If I touch my feet, they are warm. Even more frustrating is when I know my feet are warm to the touch, I still cannot go to sleep because they ‘feel’ cold.

Something else that has happened in recent years is I occasionally wake up with a burning sensation in the heals of my feet. Unless I rub (massage) my heals for a few minutes, the sensation will not go away.

Neuropathy also explains why we have so much trouble maintaining our balance while standing for any length of time. The sensations are not being transmitted to the brain quickly enough for the body to respond.

I know ... ‘man-up’ ... accept it and get on with life! But that doesn’t mean I still can’t complain about it occasionally, right?

What can I do today to help?

2011-09-18T14:25:00.001-04:00

Since this last week was one where a family member had a serious health issue, a video on “compassion’ caught my attention yesterday morning.

First, we need to have some definitions:

Empathy: To recognize, and to some extent, share feelings that are being experienced by another.

A person might need a certain amount of empathy before they can feel compassion.

Compassion: A deep awareness of the suffering of another. To suffer together with another … to shelter and embrace the distressed.

In the TED video Joan Halifax: Compassion and the true meaning of empathy discussed the elements of compassion.

Ms. Halifax explained that compassion is an inherent human quality. A person fully engaged in a compassionate situation feels (experiences) the suffering a lot more, but returns to their baseline (normal state) much quicker. She said that researchers have also proven that compassion enhances our own immune system. There is something within the process that strengthens us physically and emotionally.

There were two components of compassion.

A capacity to see clearly into the nature of the suffering … including a desire to transform the suffering.
The ability to not become attached to the potential outcome ... living in the moment without concern for what might or will happen.

I know there have been times where I stumbled looking for the right words. I also know that I occasionally ‘over-talk’ when perhaps all the person wanted was for me to just be there for him or her. My wife is far better at ‘being there’ than I am. It is time I learn from a master.

Making a difference

In another similar video an example was given of how just one shift in your daily thought process can change your life. What if you woke up every morning and asked,

“What can I do today to help one other person or creature?”

You are not going to change the world, but you are going to make a difference one person (or creature) at a time. How would you feel at the end of each day knowing that you helped someone or something? Wouldn’t you be happier and more content?

I am putting a post-it note on my bathroom mirror today. Are you?

Why is my CPK Count so High?

2011-09-15T19:03:00.001-04:00

The other day I received an email from a man with Kennedy’s Disease. He was wondering:

What is CPK?
Why his CPK count was so high?
What can he do about it?

CPK or (CK) is Creatine Phosphokinase (a muscle enzyme). An elevated CPK count is quite normal for those of us with Kennedy's Disease. The higher number reflects muscle damage (or wasting). Those of us with Kennedy’s Disease can have CPK counts into the thousands.

Normally, our body does a great job of cleaning up the residue from normal muscle usage. However, as Kennedy's Disease progresses, the amount of waste generated from the muscle breaking down accelerates and the body can no longer remove all the waste.

For example, prior to being diagnosed with Kennedy’s Disease, my doctor was concerned that I was experiencing acute renal failure because my count was so high.

A key point for those of us with Kennedy’s Disease is that a high CPK will also indicate a longer than normal time needed to recover from excessive muscle usage. Those of us with Kennedy’s Disease have experienced this problem when we have ‘over-done’ something. Occasionally it might take a day or two to recover.

Understand that when the test is given is also important. If you have done something physically demanding within the last 24 hours, an elevated CPK is normal. If you had rested a day before the test, the count might still be elevated, but not nearly as high.

What can you do?

Recognize that this is a part of the progression process.
Consult with your neurologist. He/she is the most prepared to address your concerns and discuss options.
Understand what particular work or play is causing an increased breakdown in the muscles.

Example: I was experiencing very high CPK counts when I was still very active (climbing mountains, lifting weights, running, biking, etc.) . As I began to exercise 'smarter', my CPK count gradually declined to a level that is still slightly elevated, but closer to normal. I now exercise every day, but my exercise program is different (less demanding). I also ‘listen to my body’.

I found the following articles interesting and hope it is helpful in better explaining what CPK (or CK) is.

What Do Elevated CPK Levels Indicate?

Creatine Phosphokinase

CPK's normal function is the transformation of creatine acid into phosphate, which is a usable source of energy for muscle, heart, and brain cells.

Concentration

The normal concentration of CPK in the blood of a healthy adult is 22 to 198 units per liter. An unusually high concentration of CPK may indicate an injury or illness.

Damage

When an organ or muscle containing CPK is damaged, the bloodstream floods with the "spilled" enzyme. Analyzing CPK levels through a blood test enables doctors to find out exactly what kind of CPK it is, thus revealing where the damage lies.

Creatine Kinase

By: Terry Bytheway
Creatine kinase, also known as phosphocreatine kinase or creatine phosphokinase, is an enzyme or type of protein that is found in several tissue types of the human body, including the muscle and the brain. The function of this enzyme is to catalyze the conversion of creatine to phosphocreatine by applying itself in the consumption of adenosine triphosphate, the generation of adenosine diphosphate, and the reverse reaction. Adenosine triphosphate is a vital source of energy in biochemical reactions; in the skeletal muscle, the brain, and the smooth muscle – or all tissues that swiftly use up adenosine triphosphate – phosphocreatine acts as an energy reservoir for the quick regeneration of adenosine triphosphate. This is a very important function, and even though it doesn’t sound like much, creatine kinase definitely has its work cut out.

Going back to basics, there are three types of creatine kinase or isoenzymes in the body: CK-BB is mainly produced by the brain and the smooth muscle; CK-MB is primarily produced by the heart muscle; and most of CK-MM is produced by the skeletal muscle.

In normal conditions, there is very little creatine kinase circulating in the blood of the average, healthy human being. Taking the creatine test is a good idea to find out where exactly it is that one stands when it comes to the prevalent level of creatine kinase in one’s body. The test specifically measures the blood levels of certain muscle and brain enzyme proteins; the normal results for females range between 10 - 79 units per liter (U/L) and 17 - 148 U/L in males. A lower than normally low level of creatine kinase shows that you have been drinking excessively; alcohol liver disease and rheumatoid arthritis are two of the most common possibilities that exist with respect to lowered levels of creatine kinase.

On the other hand, if the test reveals that the level of creatine kinase circulating in the blood is higher than it should be in normal conditions, then chances are that the human body in question has suffered damage either to the muscle or the brain. In fact, astronomical levels of creatine kinase are indicative of injuries, rhabdodomyolysis, myocardial infarction, myocarditis, myositis, malignant hypethermia, McLeod syndrome, neuroleptic malignant syndrome, and hypothyroidism. If most of this sounds like gibberish to you, just remember that a heart attack, a muscle disease or a stroke may result in abnormally raised creatine kinase levels in the blood. Statin medications used to decrease serum cholesterol levels may also be the culprit.

Experts suggest that anyone who is not sure whether or not they have had a heart attack (which is hard to imagine!) or whether muscles in their bodies have been damaged as a result of any sort of activity, should make it a point to go for a creatine kinase test.

Dutasteride and ASC-J9 Updates

2011-09-13T10:08:00.001-04:00

Time flies! It is hard to believe it has been seven months since I started taking dutasteride.

I was reviewing my journal this weekend. I averaged 108 minutes of exercise every other day. The average time was down slightly because of a trip and a visitor on two occasions where I had to end the workouts early.

I still have not experienced any negative side effects.

Worth noting was that several times over the last month I commented that I had a very strong workout and I could have performed many more reps because I wasn’t tired.

Even more important in my opinion are my comments about the sustained energy level that I continue to experience. For most of us with Kennedy’s Disease, the ups and downs we experience in energy are frustrating. I have just not had any ‘down’ days. For me, that is worth the price of admission.

Other News:

ASC-J9

NIH is testing the oral version of ASC-J9 on small animals. I have written about this possible treatment in several articles (see below). J9 provides a lot of hope. It will be many months before the results are known, but I am keeping my fingers crossed.

Other articles that refer to ASC-J9:

2,977

2011-09-11T10:52:00.001-04:00

Like everyone else, I remember where I was and what I was thinking as I watched the World Trade Center’s North Tower burning. I kept on asking, “Was this a mistake ... some freak accident?” How could any plane fly into the tower? An act of terrorism was the furthest thing from my mind at that moment.

Then as my wife and I watched the second plane hit the South Tower the reality flooded over us. We sat there in our family room, holding hands, mesmerized, not being able to move away from the TV. How could this be happening?

It seemed like only minutes later that ABC News switched to Washington, DC and we hear that Flight 77 crashed into the Pentagon. And then Flight 93 crashes in Shanksville, PA. I remember thinking, “My God, what next?

2,977 were killed and thousands more (family and friends) had a piece of them also die that day. These numbers do not take into account the thousands of firefighters, police officers and medical staff that participated in the rescue. But every one of us was affected and we will never forget what happened.

Our view of reality changed that day. It was hard for any of us to believe that there are certain people in this world that want to kill innocent men, women and children (non-combatants) to further their cause.

“9/11” became a rallying cry ... like “Pearl Harbor” to those in the 1940s. “9/11” is a way for all Americans to join together for a common cause and belief. And like Pearl Harbor, as a result of this atrocity, our nation is stronger.

Today is one of those days where the entire nation comes together in thought and prayer. No matter where we are in the world I am certain that we will all will pause and remember.

World Trade Center Collage

by Danny Hahlbohm

We must never forget!

Gravity is the enemy

2011-09-08T10:05:00.001-04:00

What happens when your body no longer does what it is supposed to do?

Yesterday afternoon I was out with my dog on our normal cruise through the neighborhood when I came across a water turtle on the road. I consider myself the resident protector of turtles, so I stopped to move it.

As I approached, I thought it was strange that the turtle did not seem afraid of me. Then I noticed that a car had run over his backside. His back legs were crushed and would not work. However, there was not any blood present and the front legs and head were still active.

I carefully picked it up and moved it to within a couple of feet of the lake. I set in down on the grass and waited. Over several minutes I watched the turtle lift itself up using its front legs and try to move forward. Because the rear legs would not work the turtle just laid there looking like it was doing pushups.

As the turtle struggled, I was saddened by the situation. I assumed it had to be in some pain, but it also couldn’t move.

I could empathize to some degree because its condition was similar to how I have felt a few times. HELPLESS! The turtle’s body was not responding like it knew it should. Without four legs to lift its body off the ground, it did not have the strength to crawl back to the world where it felt safe (the lake).

There have been several times in my life where I fell and could not get up. My legs would just not support me. It is a helpless feeling as well as a frustrating one. You know what needs to be done, but the body has failed you.

Fortunately, in almost every case there was someone there to help. My wife, a friend, or a total stranger picked me up or supported me while I found a way to stand up. At times like this pride or embarrassment is not an issue because you know you are not going anywhere without someone’s help.

My muscles are slowly failing me and gravity is now an enemy. I understand why it is happening, but explanations don’t help when I fall. I, like the turtle, need help.

But, how was I going to help the turtle?

Would its body be too badly damaged to survive in the water? I reasoned that gravity is now the turtle’s enemy as much as it is mine. However, since it lives in a world where it is buoyant, perhaps the turtle still has a chance of living in the water. So, I carefully moved the turtle to the edge of the lake and placed it into the shallow water where it could still breathe. Then I backed away and watched.

After a few seconds the turtle’s front legs spun it around and it slid effortlessly into the silt of the lake bottom.

Would it ... could it still live with the type of injuries it sustained? I don’t know. But, at least it had a chance.

It’s as simple as ‘Mind over Matter’

2011-09-06T14:59:00.001-04:00

Maintaining your health becomes even more important as Kennedy’s Disease progresses. Issues, such as being overweight, high blood pressure, diabetes, swallowing, excess fluids that settle in your lower extremities, etc., are just a few of the things we need to be mindful of.

Today, I want to address weight and eating habits.

Excess weight is a health issue for many. When you couple excess weight with Kennedy’s Disease, the problem becomes even more serious. You can imagine how difficult it would be to carry around 30 or 60 pounds of dead weight every day. Now, consider that your strength has diminished by 30, 40 or 50%. It would feel like you were now adding another 10 to 30 pounds. Those already weakened legs would really be struggling to hold you up. And, your arms would be shaking trying to push yourself upright from the bed or chair.

Yard work, home repairs, playing with the kids and grandkids, and tinkering in the garage takes energy. Performing this work was how we could justify sitting in our Lazy-Boy on Sunday afternoons watching the football game. However, we burn fewer calories as we are forced to give up these activities (or have to slowdown in carrying them out). The result: The more inactive we are, the less fuel (food) we need. For example, in order for me to maintain a comfortable weight, I need to reduce my food intake ... especially fatty foods.

The last few years have really shown me the importance of maintaining my weight. I know that when I added ten pounds (5% of my weight) last year it became significantly more difficult to lean over, stand up, walk, etc. By reducing my food intake for a couple of weeks, I was able to lose the weight without any serious changes in my diet. I was amazed how good I felt after losing those ten pounds. Today, if I gain 3-5 pounds, I immediately go to work on losing it.

Mindfully observing my food intake (what and how much) helps me maintain a good ‘fighting weight’.

By maintaining a good, comfortable weight, it is easier to safely move around and transfer. When you eat better (the right type of foods) it is easier to lose or maintain your weight as well as reduce the possibilities of other health concerns.

There was a saying that went something like: “Weight is an issue of mind over matter. If you don’t mind, it doesn’t matter.” In the case of a person with Kennedy’s Disease, it does matter.

The key, like anything important, is to:

Set a goal
Make a plan
Work the plan
Monitor (record) your results.

And it is just as important to take it one day at a time. If you over-indulge one day, consciously under-indulge the next.

Are you Suffering

2011-09-04T17:17:00.001-04:00

I read an interesting guest post in one of my favorite blogs, Goodlife Zen. “Seven ways to discover the positive side of suffering” was written by Elana Miller. In the article she discusses how to spin straw into gold … taking painful experiences and turning them into valuable lessons. Knowing that I need more gold (especially with the price of gold these days), I wanted to know more.

In her article she discusses seven ways to change your perception of a bad experience. Ms. Miller has some interesting insights into how to accomplish this. In this article I am using some of her “ways” and adding my own spin to it because of my experiences of having to live with Kennedy’s Disease.

1. Use the bad to appreciate the good

“… difficult times create a greater appreciation of the good times.”

In several articles I have mentioned that we need to look for the blessings in our life. These blessings include family and friends. By focusing on all the positive in your life, it is more difficult to dwell on the negative issue(s) that surfaced.

I know, it sounds so easy, but boy is it hard. However, once we recognize and focus on the love of our family and friends it is much easier to begin to live again. Think about the laugh or giggle of a child or grandchild. Isn’t it liberating? There is freedom in seeing the good (the love and support) that surrounds us.

2. See your suffering as an opportunity to grow

“When life is easy, we aren’t challenged to practice skills such as wisdom, patience and compassion. … When you’re suffering, take the opportunity to practice skills like kindness, generosity, equanimity, or any other positive trait you want to develop.”

This is similar to #1, but it is more internally focused. What can I do to improve my attitude? This question helps refocus your thoughts from the ‘why me’ and redirects them towards what can I learn about myself from this experience and how can I improve.

3. Let suffering open your heart

“When we suffer, it teaches us to feel compassion and empathy for others who are suffering, … Suffering is universal. We all have lost loved ones, had relationships end, had financial stresses, and felt self-doubt.”

Knowing that what you are going through is happening to many others can provide a bridge to redirect your energies to helping those who are also suffering. We can be more supportive to others because of what we are experiencing.

6. Strengthen your relationships with the people around you

“When times are bad is when we most need our family and friends. It can be tempting to curl up in a ball and distance yourself from others out of shame or fear, but your loved ones are there to help you. Suffering can actually help forge and strengthen your most precious relationships by forcing you to reach out and ask for help.

Our own vulnerability helps us connect with others on a deep and meaningful level. So don’t be afraid to share your difficulties with your biggest supporters so they can help lessen the burden.”

I believe it is natural to want to hide your fears and concerns when something terrible happens (i.e. diagnosed with Kennedy’s Disease). Often we say tell ourselves that we are just trying to protect those that we love. However, that is when we need our family and friends the most. These people are the strongest and most understanding support group we could ever want. They are there for us. They want to help. All we have to do is just be receptive … and honest.

7. Transform your relationship with suffering

“In Eastern philosophy there is a distinction between pain and suffering. While pain is an inevitable part of life, suffering is our response to that pain. All the difficulty we add to our pain is our responsibility.
In other words, pain is what you need to accept, while suffering is what you need to work to change. You can’t eliminate pain, but you can work to end suffering.”

#7 is the heart of the matter. It is all about acceptance (yes that wonderful word that I continually write about).

Suffering is not a necessary part of the acceptance process. However, it goes to the heart of the ‘why me’ syndrome. We need to recognize that we allow ourselves to suffer. True freedom comes when we recognize that it is not mandatory that we suffer just because something terrible happened in our life.

‘The only handicap in life is a bad attitude.’

Are all ‘CAMs’ Elixirs and Snake Oil?

2011-09-01T11:17:00.001-04:00

CAM is short for ‘complimentary and alternative medicine’.

Ed Meyertholen, our resident guru, has recommended the following book to me.

“Snake Oil Science: The Truth about Complementary and Alternative Medicine” by R. Barker Bausell, Ph.D.

In Ed’s email, he commented: It does an excellent job of explaining the research method and the difficulties of planning a research study, especially with regard to clinical trials. You may find it enlightening.

The subject is very interesting … especially the placebo effect. I have mentioned it a few times when reporting on my dutasteride trial. Because I am also a believer in certain alternative medicines including acupressure and Reiki, it should prove an interesting read.

The book was published in late 2007. You can buy it new for $12.76 or used for as little as $4.26 + shipping. The book description includes the following:

… Here is not only an entertaining critique of the strangely zealous world of complementary and alternative medicine (CAM) belief and practice, but it also a first-rate introduction to how to correctly interpret scientific research of any sort. Readers will come away with a solid understanding of good vs. bad research practice and a healthy skepticism of claims about the latest miracle cure, be it St. John's Wort for depression or acupuncture for chronic pain.

A review from Publishers Weekly:

(Found on Amazon) A biostatistician, author and Senior Research Methodologist at the University of Maryland, Bausell looks at the alternative methods used by more than 36 percent of Americans to treat pain and illness by posing the question, "Is any complementary and alternative medical therapy more effective than a placebo?" … A breakdown of the placebo effect's hows and whys follows (are people hardwired for susceptibility?), along with a look at "high-quality studies" and "systematic reviews" (including an Italian study that finds natural opioid secretion in the brain responsible for the perceived benefits of placebos) which largely support Bausell's answer. Entertaining and informative, with plenty of diverting anecdotal examples, Bausell offers non-professionals and pros a thorough look at the science on CAM, along with a complementary lesson in the methods of good medical research.
Copyright © Reed Business Information, a division of Reed Elsevier Inc. All rights reserved.

Other reviews from the book’s webpage:

"Readable, entertaining and immensely educational...[Bausell] writes with a sense of humor and palpable compassion for all involved."--New York Times

"Anyone who reads Bausell's rigorous scientific analysis of the risks and benefits of complementary and alternative medicine will be left wondering why they are spending so much on so many useless products."--Jerome P. Kassirer, M.D., Tufts University School of Medicine, Editor-in-Chief Emeritus, New England Journal of Medicine

"The book is aimed at the consumer, and it is written in a simple,
entertaining style such that the consumer will understand it and enjoy reading it. So the consumer should and, I'm sure, will buy this book. But in addition I would also warmly recommend it to healthcare professionals who work in CAM or have an interest in this area. They will not easily find a harder hitting, more eloquent, or smarter critique of CAM!"--Edzard Ernst, M.D., Ph.D., Complementary Medicine, Peninsula Medical School, UK

I have added Ed’s recommendation to my reading list and will probably buy the Kindle Edition if my library doesn’t stock it.

If you have read the book, please let me know your thoughts.
Have you had any positive or negative experiences with CAMs?

Magic … It is time for a little fun

2011-08-30T11:42:00.001-04:00

My wife constantly tells me I have too much time on my hands since I retired. Perhaps she is right. This post has nothing to do with Kennedy's Disease... and yet everything ... to do with 'living with Kennedy's Disease'.

Almost everyone enjoys magic. I ran across these three videos on TED the other day and thought I would share them with you. I felt great after watching these talented entertainers.

Once again it proves that laughter is the best medicine!

_______________

This was an enjoyable five minute presentation that will get you warmed up for more tricks.

Marco Tempest: The magic of truth and lies

Using three iPods like magical props, Marco Tempest spins a clever, surprisingly heartfelt meditation on truth and lies, art and emotion.

_______________

This is a fun twenty minute presentation of magic of the mind. Keith’s second-sight demonstration is amazing. The ending had me laughing so hard because a member of the audience believes he is smarter than the magician … until the tables are turned. Enjoy!

Keith Barry does brain magic

First, Keith Barry shows us how our brains can fool our bodies -- in a trick that works via podcast too. Then he involves the audience in some jaw-dropping (and even a bit dangerous) feats of brain magic.

_______________

This is a longer (31 minute) presentation, but Mr. Green is so funny and talented I could not stop watching.

Lennart Green does close-up card magic

Like your uncle at a family party, the rumpled Swedish doctor Lennart Green says, "Pick a card, any card." But what he does with those cards is pure magic -- flabbergasting, lightning-fast, how-does-he-do-it? magic.

Are you smiling?

Do you feel better?

Communications - It’s not a one-way street

2011-08-28T15:36:00.001-04:00

Effective communications … wow, we can spend a lot of time on this subject. It could be simplified to the title, but so much would be lacking and left unsaid.

Many of us having to deal with a disease that has no treatment or cure. And, initially we often have problems explaining how we feel. We tend to hold these feelings close to our chest often for fear that we might come across as weak or emotional or in need of help. Many of us carry this self-made belief that we should ‘man-up’ (suck it up) and just get on with life.

Unfortunately, holding these thoughts and feelings in is not healthy.

First, we need to be able to unload … de-stress … because holding these feelings inside can be harmful to your health as well as family relationships.
Second, we cannot always see the forest because of the trees. We become so entangled with ‘what-if’’, ‘why me’ and ‘what are we going to do now’ that we lose sight of the end-game (in other words, how do I maintain loving and healthy relationships as this disease progresses).

Communication Tools

I read an interesting article recently in “The Costco Connection” about “Aging Wisely.” One section was on “Simple communications tools to remember.” The points fit well into today’s topic. Below are the points as well as my translation.

Take a walk in the other person’s shoes. (Yup, it is the old walk in mile in another person’s moccasins) Try to understand what’s going with all your family members.
- Translation: Ask each family member how they see your condition and what it means to them if you cannot physically do what you used to be able to do.
Separate the person from the problem. Conflict is a shared problem that you can conquer together without placing blame.
- Translation: So often we feel this is all on us and we have let everyone else down. We find it difficult to share our thoughts and fears. In other words, it is all about me. Once we can separate ourselves from the situation and look at it from a family perspective, the ‘how do we continue to grow as a family’ become more evident.
Remember optimism. Celebrate small successes and build on them.
- Translation: When we are capable of clearly looking at the situation it is not a ‘now’ problem. Kennedy’s Disease, for example, is a slow progressive disorder. Now that we know it is not the end of the world. We have time to think it through and consider our options. We have time to plan and time to talk it over with others that care.
Break bread together. Sharing meals together can help reestablish bonds and open communication channels.
- Translation: Pick the right time to talk about the subject. Often, the best time is at the end of a meal, when the family is more relaxed and not multi-tasking.
Regularize family meetings, phone calls and emails. Keep everyone in the loop.
- Translation: Don’t just talk about it and forget it. Many times additional questions and concerns will come up later. It is your job to keep the communication channels open and to make the entire family feel comfortable talking about any concerns.
Try a little humor. It is not a funny situation, but if you can avoid taking everything so seriously, it will make it easier to discuss.
- Translation: Everyone must know it is not the end of the world. Life will continue on. Yes, things might change over time, but you are still a loving family … and that will not change. If the rest of the family can see that you can still joke about things (i.e., your recent fall), it will help ease the tension.

Keeping the channels open

Keep in mind that you were the family leader before the news and you are still the family leader now. It is your job to keep the communication channels open and to make other family members feel comfortable with asking questions or expressing their concerns. Occasionally it might even mean saying, “I don’t know.”

For communications to be effective, it has to be a two-way street.

When was the last time you had a family meeting to discuss anything including your current health situation?
During the meeting did you hear how the rest of the family was dealing with the news?
Did you make them feel comfortable when they shared their concerns?
Were you open and honest in answering their questions?

Social Security – Disability almost insolvent

2011-08-26T11:09:00.001-04:00

I read this headline the other day and immediately clicked on the link to read more. I am on Social Security – Disability (SS-D) and insolvency does not sound good.

Because of the number of laid-off workers and the aging baby-boomers (watch it … I resemble one of them) that SS-D is being flooded with claims. The system was already in financial difficulty and this new surge has applications up over 50% this decade. The growing number of applicants has further clogged the application approval process. Some applicants have to wait up to two years for approval and this puts an even greater financial strain on families.

2017 is the date

A new congressional study shows SS-D could run out of money by 2017. In recent years the focus has been on fixing the Social Security – Retirement program. The problem is that SS-D is in much worse shape and there are no easy solutions. Three major problems have crippled the system:

Claims for SS-D always increase during a bad economy because the disabled find it much more difficult to find jobs that fit their abilities.
The number of baby-bummers getting ready to retire at age 66 or 67. However, if the person qualifies for disability, he or she can get full benefits earlier.
If a person qualifies for SS-D, he or she is also eligible for Medicare after a two year waiting period.

The article goes on to say …

“As policymakers work to improve the disability system, they are faced with two major issues: Legitimate applicants often have to wait years to get benefits while many others get payments they don't deserve.

Last year, Social Security detected $1.4 billion in overpayments to disability beneficiaries, mostly to people who got jobs and no longer qualified, according to a recent report by the Government Accountability Office, the investigative arm of Congress.

… the application process can be a nightmare for legitimate applicants. About two-thirds of initial applications are rejected. Most of these people drop their claims, but for those willing go through an appeals process that can take two years or more, chances are good they eventually will get benefits.”

Patience is a virtue, but it is difficult to be patient when your financial wellbeing is crumbling around you.

If you are considering applying for SS-D, consider reading the “Social Security -Disability Guide” that can be found on the KDA website. Many people have used the guide and found that it worked for them. And, most importantly, a denial does not mean “NO”, it just means you have to appeal the denial and prove your case.

Researchers found cause of ALS

2011-08-23T13:50:00.001-04:00

Yesterday morning I ran across the following article: “Researchers Say They’ve Found Common Cause of ALS.” I went on to read:

“The apparent discovery of a common cause of all forms of amyotrophic lateral sclerosis (ALS) could give a boost to efforts to find a treatment for the fatal neurodegenerative disease, a new study contends.

Scientists have long struggled to identify the underlying disease process of ALS (also known as Lou Gehrig's disease) and weren't even sure that a common disease process was associated with all forms of ALS.

In this new study, Northwestern University researchers said they found that the basis of ALS is a malfunctioning protein recycling system in the neurons of the brain and spinal cord. Efficient recycling of the protein building blocks in the neurons are critical for optimal functioning of the neurons. They become severely damaged when they can't repair or maintain themselves.

This problem occurs in all three types of ALS: hereditary, sporadic and ALS that targets the brain, the researchers said.

The discovery, published Aug. 21 in the journal Nature, shows that all forms of ALS share an underlying cause and offers a common target for drug therapy, according to the researchers.”

Later there was a comment from Teepu Siddique at Northwestern, “This opens up a whole new field for finding an effective treatment for ALS.” He also stated, "We can now test for drugs that would regulate this protein pathway or optimize it, so it functions as it should in a normal state."

The article also said, “This finding about the breakdown of protein recycling in ALS may also prove useful in the study of other neurodegenerative diseases …”

After reading the article I asked Ed Meyertholen, our resident guru, what, if anything, this might mean for Kennedy’s Disease research. Ed responded, “Realize that this is not a clinical breakthrough - they have not ‘cured’ ALS. They are simply describing the mechanism of the disease.

The researchers are saying that ALS is the result of the inability of cells to adequately remove proteins. Specifically, the proteasome (the wood chipper) is defective. If you remember, it has been suggested that KD may be due to proteasome not being able to remove the mutant AR - so it fits in with this study even though it is a different disease. Thus it is possible that a treatment for ALS may also work with KD.”

Hey, I’ll take any positive news on the research front. You never know when someone might get lucky. We live with the hope that someday soon there will be a treatment for Kennedy’s Disease.

Living with Kennedy's Disease ... until there is a cure

Reprogramming Skin Cells Into Induced Stem Cells

Skin transformed into brain cells

Direct approach

Pencil neck

Follow-up on earlier article on RNA defect repair

Eleven Month Dutasteride Update

“Life is often out of our control”

Yes, much of our life is out of our control

Scientists identify compound that can help repair toxic RNA defect

No matter how old we are ...

… we still need our shots.

Three kinds of vaccines:

Childhood Vaccines:

New Vaccines:

Age-appropriate Vaccines:

Today I am thankful for what little strength I still have.

The extremely excruciating time needed for development of a treatment

What if I could promise you a cure?

And, remember, if it sounds too good to be true;

it probably is!

My annual checkup

The Good News:

The Bad News:

CPK is good:

Dutasteride:

What “living with” means to me

Gratitude Journal

My daily routine ...

Exercise:

Other Daily Activities:

My tip for the day ...

Courage to face the future

Tip #1: Start something new.

Tip #2: Go somewhere you’ve never been before.

Tip #3: Say what is in your heart.

Tip #4: Speak to someone you don’t know.

Tip #5: Stand up for someone else.

Tip #6: Learn to shout.

Tip #7: Dress how you want to.

Laryngospasm; Sudden, Terrifying Difficulty Breathing

Testosterone; the good, the bad and the ugly

It's hard to measure accurately

It can shrink your belly

Fat can lower testosterone

Too much may kill brain cells

It may hurt men's hearts

Low levels of testosterone are linked to sleep apnea

Happy Holidays

Our sense of self

I am becoming a little bored

Change to KDA website

HAPPY HOLIDAYS

Family traditions … one of the cornerstones of happiness

Does the squeaky wheel always get the grease?

No, the squeaky wheel doesn’t always get the grease, but if they don’t hear the squeaking they will never know it needs to be greased.

Ten Month Update on Dutasteride

Research Update on the Androgen Receptor and Kennedy’s Disease

Abstract:

What did they find?

What does this mean to Kennedy’s Disease patients?

Am I taking the time to smell the roses?

It’s hard to swallow

1. Shaker Exercise

Can women have Kennedy’s Disease?

Not Gender Specific

DNA Test

Genetics

A potential disaster

BACKUP – BACKUP – BACKUP

The word is slowly getting out there

So … let’s get the word out!

Kennedy’s Disease and Recent Research

Happy Thanksgiving

Be safe this holiday season and have a

HAPPY THANKSGIVING

Are you clinging to your past

The Nine Stages

Clinging to our past

Two Questions