Insurance Reforms Begin in September ... Maybe

I read the following article in the National Organization for Rare Disorders (NORD) Newsletter this last week. I am still skeptical that this new Healthcare program will be that beneficial and comments like this do not reassure me. Whenever politicians try to take on something as complicated as healthcare reform, a lot of holes, misinterpretations, and wiggle-room opportunities present themselves as the new, unproven regulations are implemented. I hope they prove me wrong this time.

Please understand, I am not saying the current system does not need to be improved. The problem, as I see it, happened because the White House and Congress rushed to enact an entirely new healthcare system within a short period of time. Who among us have taken the time to read an nine-hundred-page document that most of our congressional representatives have not even read. Trying to solve all the problems in our current system within a few months without ample time for discussion does not seem the responsible approach. A more prudent approach might have been to attack the main issues one at a time and resolve them first. Then, as we gain some insight and experience as well as better understand the issues with the system, work towards improving our entire healthcare program realizing it might take several years and a lot of work.

I apologize for the skepticism, but if a country like ours, with all the resources at our disposal, cannot stop an oil leak from destroying our Gulf Coast, how can we expect to resolve everyone's healthcare concerns in one legislative session?

___________________________

Insurance Reforms

By Susie Ahn Esq., Foley Hoag LLP

The White House and Congress have emphasized that, while some aspects of the new health care reform law will take up to four years to implement, others—including elimination of lifetime insurance caps—will take effect this year.  On April 1, President Obama said that it " will take about four years to implement this entire plan, because we've got to do it responsibly, we need to get it right.  But there's also a set of reforms that will take effect this year.  So I just want to…I want everybody to understand what's going to happen this year….Tens of thousands of uninsured Americans with preexisting conditions, and parents whose children have a preexisting condition, will finally be able to purchase the coverage that they need.  That happens this year….Here's what else happens:  Insurance companies won't be able to drop people's coverage when they get sick; or place lifetime limits or restrictive annual limits on the amount of care they can receive." 

Visitors to the White House Health Reform website's Frequently Asked Questions page may read the following in response to the question, "What consumer protections will I get this year?"

"Beginning in September 2010, insurers will be prohibited from placing lifetime limits on what they will pay for your medical care, and they can only apply restricted annual benefit limits.  Insurers will no longer be able to arbitrarily cancel your insurance policy when you get sick, except in cases of fraud.  Insurance companies will be prohibited from denying coverage to children with pre-existing conditions.  This applies to all new and existing employer plans."

However, the effective date for these "immediate" reforms, found on page 22 of the 906-page bill, is ambiguous and leaves room for interpretation that could push back the implementation date for many Americans. 

NORD and other members of the Raise the Caps Coalition want to be sure these aspects of health care reform are implemented as promised and are concerned that some insurers may be interpreting the language differently regarding the implementation date.  For that reason, NORD and more than 90 other patient groups, including many NORD Member Organizations, sent a letter to Health and Human Services Secretary Kathleen Sebelius on May 7, urging her to clarify that the reforms identified by the White House and Congress as immediate will be implemented in September.   Read the letter to Kathleen Sebelius.

“Be kind, for everyone you meet is fighting a hard battle”

Plato's quote is appropriate for today's topic. Often, we tend to think that we are the only ones with problems in this world. It is easy to become upset if someone cuts us off on the freeway or cuts in front of us in a line we have been standing in for an hour. It is also easy to feel a little down or sorry for yourself, when you have just had a bad fall, or you are in the middle of a "slide" not knowing when it will end and to what degree you will recover. Then, all it takes for reality to set back in is a situation like Haiti, the oil leak in the Gulf, a friend tells you they have cancer, etc.; I believe you get the idea.

"To Kill a Mockingbird" (by Harper Lee) is a great story and a wonderful movie. I remember Atticus telling his children they need to "walk in someone else's shoes before judging the person." Everyone is fighting his or her own personal battle and until we understand the other person's particular situation, we should not be pre-judging him or her. I believe these moments are important (opportunities) because they are lessons in life designed for our personal growth. How we respond to these challenges is an individual decision and based upon a number of factors. We might do well one time and totally blow it another time. If we can recognize that everyone "is fighting a hard battle," it makes it easier not to react to a given situation in a negative manner.

I also believe that "nothing comes into existence uninvited." Everything that happens in my life is a potential learning experience depending upon how I respond to the situation. I further believe that these erroneous beliefs and misconceptions that I still carry with me are being tested repeatedly until I eventually understand and accept reality. If I react negatively to someone's actions, it is because I still have not fully accepted that everyone (including the person I am upset with) is fighting his or her own personal battle.

I received an email from a friend the other day. It was one of those canned messages, but after reading it I thought it would fit nicely with today's topic. The quotes are from Maya Angelou, a well-known and respected author and poet.

I've learned that
no matter what happens, or how bad it seems today,
life does go on, and it will be better tomorrow.

I've learned that
you can tell a lot about a person by the way he/she handles these three things:
a rainy day, lost luggage, and tangled Christmas tree lights.

I've learned that
life sometimes gives you a second chance.

I've learned that
you shouldn't go through life with a catcher's mitt on both hands.
You need to be able to throw something back.

I've learned that
if you pursue happiness, it will elude you.
But if you focus on your family, your friends, the needs of others,
your work and doing the very best you can, happiness will find you.

I've learned that

whenever I decide something with an open heart,
I usually make the right decision.

I've learned that
even when I have pains, I don't have to be one.

I've learned that
I still have a lot to learn.

 The "life goes on, and it will be a better tomorrow" comment above is similar to one of my favorite sayings, "This too will pass." My father use to remind me "it is not the end of the world" when I would over react to something negative that happened. Even though I did not want to hear it at the time, he was always right.  In addition, the "decide something with an open heart" comment above goes hand-in-hand with Plato's quote that "everyone you meet is fighting a hard battle." Just recognizing that everyone is being tested in his or her own unique way makes it easier to "accept the situation and move on (turn the other cheek)."

Ms. Angelou has many wonderful quotes and sayings. One I particularly like is "a bird doesn't sing because it has an answer, it sings because it has a song." I hope you understand I am singing today even though I still do not have all the answers.

One thing for certain, "I still have a lot to learn." By the way, I do not do well with tangled Christmas tree lights. J

I feel great ... and so can you

I am certain some of you are tired of hearing about my exercise program. Yes, I am an advocate and feel it is my calling to get out the word ... EXERCISE IS GOOD. I have heard from several readers about their experiences with the "Smart Exercise Guide – Part II." It is always heartening to hear about the successes of the program. I am up to 1½ hours of exercise every Monday-Wednesday-Friday. I also have a short exercise routine of twenty minutes I do on the in-between days. I am using weights for every arm and shoulder exercise. I have increased my reps to a point where I could still do more, but now feel five to seven routines of 10-20 reps (depending upon the exercise) is enough. I no longer have any aches or pain associated with the program. I feel great after each long program (those good old endorphins pumping through the brain).

I also know that no matter how much I tout the benefits of exercise, many will never try it or give it a valid try. That is called "free will" and I respect that. Yet, I will never stop talking about the benefits of exercising smartly. Today, I am including updates from a person with Kennedy's Disease that began the Smart Exercise Program about six weeks ago. I really appreciate that Jim has taken on the program and is reporting on the personal benefits he is experiencing. Below are his updates from the KDA Forum.

In May, the following was posted. "I started using your new exercise program this past Monday. I am doing only the daily exercises right now and complete them in about 10 minutes (so you know the amount of reps I can do are very few).

My schedule for now is Monday & Tuesday, Wednesday break, Thursday & Friday, Weekend break.

Because I am just starting, I am still very weak, but the benefit for me right now is, "I am doing something!" So often, I feel like a helpless victim to SBMA. But with the exercise program, I have a sense of control and I love that feeling."

Then in mid-June, the following update was posted. "I have been using the exercise program for a month now. I am still only doing the daily exercises, but I have increased the number of reps by at least 50% and have double the reps of a couple of exercises. I have also increased my frequency to 5 days/week.

The most exciting thing for me? I can now take 2-3 trips down the hallway (doing the walking) without my cane and I can even stride out a little (not just heel, toe).

Also, the throat exercises have helped reduce choking when eating/drinking and strengthened my singing voice (I love to sing hymns at church on Sundays) though I am still not ready to try out for the choir.

I'm excited."

This week, the following update was posted. "I cannot tell you how excited I am about exercise. BKD (Before KD) I invested hundreds of dollars into exercise bikes, weight benches, etc. and would work out for a couple of months with little to no success. I mentioned a few days ago that I had increased the number of reps and frequency of the daily exercises.

Well, today, I added additional exercises from the smart guide and exercised for 45 minutes. I feel great! And so excited! Where I once dreaded exercise, I now look forward to it.

Thanks Bruce for all you do to help us."

One of the side-benefits of regular exercise is the mental and emotional lift that comes after a few weeks.

• I am doing something to maintain my overall health.
  
• I have the discipline to make exercise a regular routine.
  
• I am getting stronger.
  
• Look at me, I can now do ...
  
• I feel great!
  

   
If any other reader is exercising, please let me know your experiences ... both good and bad. We can all learn from other's experiences.


 

The Clinical Features of Kennedy’s Disease

In October of last year, a paper was published on the findings of 57 patients with Kennedy's Disease here in the United States. It is somewhat different in scope than the "Natural History of SBMA" report I discussed in May. The information provided in this report was obtained during the last NIH clinical trial. The title of this report is "Clinical Features of Spinal and Bulbar Muscular Atrophy." In today's article I will highlight certain findings that I found interesting. I would recommend that if you are interested, please follow the link above and read the entire paper.

This report also concluded that the longer the CAG repeat length (number), the earlier the onset. It also commented that the longer the CAG repeat length, the greater the abnormalities in motor and sensory nerve conduction. 94-to-100% of the patients had some sensory problems. They reported that there was a significant difference in the MUNE (motor unit number estimation) between SBMA subjects and the control (healthy) group. This sensory nerve issue (nerve conduction) has been one that has bothered many of us with Kennedy's Disease for some time. The tingling or numbness in the feet, hands or other parts of the body has been frustrating, because it had not been reported as a symptom until recently. (Table 5 reviewed the results of this study)

It also explained that the androgen receptor is a nuclear receptor that normally regulates gene expression and ligand binding (normally testosterone and dihydrotestosterone). Recent studies indicate that these bindings are important in the development of Kennedy's Disease. It concluded that Kennedy's Disease manifestations are primarily due to a ligand-dependent toxic gain of function in the mutant androgen receptor (whew ... what a mouthful). They gave several examples of observations that promote this hypothesis.

The most affected ADL (activities of daily living) were walking, falling, swallowing, speech, and handwriting. Only nine patients reported no difficulty with falling (oh, to be so lucky).

The report had several charts and graphs amplifying the clinical findings and I encourage you to review them. I will emphasize some of the interesting information below.

• The average age of the first muscle weakness was 41 (range of 18-to-64).
  
• The mean average from time of noticing muscle weakness to clinical diagnosis was 5½ years.
  
• The average age of diagnosis was 47 years.
  
• 32% of the patients reported being misdiagnosed initially.
  
• The average CAG repeat length was 46.7 (range of 41-to-53).
  
• The most common initial symptom was muscle cramps followed by tremors and leg weakness.
  
• Half of the patients reported initial weakness in the legs while another third reported bulbar symptoms.
  
• 68% of the patients knew of other family members with Kennedy's Disease.
  
• 88% of the patients had elevated Creatine kinase.
  
• The strength in 11 muscle groups ranged from 38-to-70% of the healthy control group. (Table 4 was interesting to me)
  
• The weakness was asymmetric in 62% of the patients with 69% having more weakness in the dominant side.
  
• 22 of the 56 patients used assistive devices such as canes, walkers, or ankle-foot orthoses.
  

One of the most interesting conclusions was ... "In development of a treatment for SBMA, early intervention may also be important to affect disease progression." We, old codgers, lose out again.

Another finding was interesting ... "Our finding that higher, not lower, testosterone levels are associated with better muscle strength and function indicates that it may be necessary to balance the anabolic strengthening effects of androgen receptors against any potential deleterious effects (harmful, often in an unexpected way) of androgen-activated mutant androgen receptor toxicity (another whew)." I need to determine what this actually means. We know that testosterone is like poison to our defective (mutant) androgen receptor. We also know that the Ohio State trial of testosterone injections in the late 90s did not work. Yet, this study reflects that patients with higher testosterone levels had better muscle strength (and that makes sense) ... except that the higher the testosterone the greater damage to the muscles and motor neurons because the androgen receptor cannot do its day job. Nothing is every easy.

Well, I hope you find this report as interesting as I did. Let me know your thoughts and conclusions if you have a chance.

The problem is not just with Rare Disorders like Kennedy’s Disease

In my two May articles, "The Clock is Ticking, So What is the Hold Up" and "Another Perspective On Research Issues," I breached the subject of the problems of finding a cure for rare disorders. After reading a New York Times article on the Human Genome Project, I felt inclined to discuss this issue a little further. It just appears that nothing comes easily or cheap in regards to breakthroughs in medicine.

The original Human Genome Project started in 1989 with the goal of identifying all three billion chemical units in the human genetics instruction set, finding the genetic roots of disease, and then developing treatments for these diseases. "It was far too expensive at that time to think of sequencing patients' whole genomes. So the National Institutes of Health embraced the idea for a clever shortcut, that of looking just at sites on the genome where many people have a variant DNA unit. The theory behind the shortcut was that since the major diseases are common, so too would be the genetic variants that caused them. But that shortcut appears to have been less than successful."

"In an announcement on June 26, 2000, the first draft of the human genome had been achieved. Mr. Clinton said it would 'revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.' At a news conference, Francis Collins, then the director of the genome agency at the National Institutes of Health, said that genetic diagnosis of diseases would be accomplished in 10 years and that treatments would start to roll out perhaps five years after that. 'Over the longer term, perhaps in another 15 or 20 years," he added, "you will see a complete transformation in therapeutic medicine.'"

The primary goal of President Clinton's initiated project on mapping human genome was to find cures for the most common diseases including cancer and Alzheimer's. After ten years and $3 Billion dollars, the article says we are back to square one in knowing where to look for the causes of most common diseases. TEN YEARS and $3,000,000,000! The article goes on to say the genetics of these common diseases have turned out to be more complex than originally imagined. It could take several more years before any major progress is made in achieving the goal.

"The last decade has brought a flood of discoveries of disease-causing mutations in the human genome. But with most diseases, the findings have explained only a small part of the risk of getting the disease. And many of the genetic variants linked to diseases, some scientists have begun to fear, could be statistical illusions." One of the examples used was the research on heart disease. Scientists tried to identify genetic predictions (warning signs) of heart disease. A medical team identified over 100 genetic variants that were linked to heart disease. Unfortunately, the variants produced no value in forecasting the disease in 19,000 women over twelve years. "The old-fashioned method of taking a family history was a better guide, Dr. Paynter reported this February in The Journal of the American Medical Association."

The article does try to justify some of the successes, however. Even though the results have generated little in new medicines, the field of medical science has changed dramatically because of this project. "Research on the genome has transformed biology, producing a steady string of surprises. First was the discovery that the number of human genes is astonishingly small compared with those of lower animals like the laboratory roundworm and fruit fly. The barely visible roundworm needs 20,000 genes that make proteins, the working parts of cells, whereas humans, apparently so much higher on the evolutionary scale, seem to have only 21,000 protein-coding genes. The slowly emerging explanation is that humans and other animals have much the same set of protein-coding genes, but the human set is regulated in a much more complicated way, through elaborate use of DNA's companion molecule, RNA. ... Little, if any, of this research could have been done without having the human genome sequence available. Every gene and control element can now be mapped to its correct site on the genome, enabling all the working parts of the system to be related to one another. 'Having a common scaffold on which one can put all the information has dramatically accelerated progress,' Dr. Lander said."

The article concludes by stating, "As more people have their entire genomes decoded, the roots of genetic disease may eventually be understood, but at this point there is no guarantee that treatments will follow. If each common disease is caused by a host of rare genetic variants, it may not be susceptible to drugs."

I concluded that the real value of this project will not really be known for several more years, but possible advantages could come forward because of this work. One benefit is already there, however. The cost of sequencing the first person's entire genome was $500 million in 2003. The cost next year is predicted to be only $5-to-10,000. These type cost reductions that could be very helpful in the future.

These articles have really opened my eyes to the cost of research. It appears nothing good comes cheap. It brings to mind the KDA slogan, "Working together to find a cure, for our generation and for our children and grandchildren." In my opinion, if spending this type money today will help bring about that cure for a future generation, it all becomes worthwhile.


 

What would you do?

The Kennedy's Disease Association (KDA) is considering updating its website. It was designed about ten years ago and because of certain programming and knowledge restrictions, we have not made any major changes to the look and feel of the site in several years. It is still a valuable site and comments continue to roll in about it being the greatest resource out there for those seeking information on Kennedy's Disease.

I feel that even though it is a good site, it does not tell "our" (yours and my) story. In our new and improved site, I am hoping that by using videos and slide shows we can better explain how Kennedy's Disease affects our lives as well as what research is doing to help find that treatment or cure. Stories could be as simple as this one or more like these on the MS website. What is important, however, is that we keep the message fresh and interesting. The site needs to regularly draw people back and make it easier for first-time visitors to find the information they are looking for.

We are also considering aligning our sub-pages (headers) around the KDA objectives.

• Promote Research
  This section and sub-pages will provide the latest information on Kennedy's Disease research and the latest clinical trials.
  
  
• Share Information
  This section and sub-pages will provide information on 'What is Kennedy's Disease', Medical Information, KDA Guides, General Tips, Current News, and other resources.
• Provide Support
  This section and sub-pages will have information on the KDA Forum, KDA Chat Room, Support Groups, Contacts and Memorials.
• Increase Awareness
  This section and sub-pages will have information on current Campaigns, Doctor's Brochures and General Public Brochures.

 
We will also have two other headers.

• About the KDA
  This section and sub-pages will have information on The KDA Story, Board of Directors, Scientific Review Board, Published Articles, Annual Reports, the Guestbook, how to contact us and how to Join the KDA.
  
  
• Help the KDA
  This section and sub-pages will provide information on how to Make a Donation, Shop Online, Make a Pledge, Raise Funds, Volunteer your time, and use the KDA Store.
  
  

Nothing is cast in stone yet and that is why I am asking my readers for their opinions of what we should be considering for the "new look." I would appreciate your thoughts and hopefully some examples of sites that you find fresh and interesting. What would you do to improve our website and make it more interesting for new as well as regular visitors?

I look forward to reading your comments and emails.

Prerequisites are required before moving on

In May, I wrote "Life is Symbiotic" and it seemed to hit some readers differently. The article focused on "acceptance" and "letting go" so we can move on. One of my faithful readers commented, "Thanks for this insight Bruce. ... I found this one particularly helpful for me, as I have been 'stuck' lately in a phase where I feel very angry with this disease (again!). It comes and goes, but I just find myself hating the continual and relentless physical deficits my husband must endure (he never complains, or rarely so). It is all so unfair and I think it's the helplessness I feel that brings on my anger. I know I must let go of this to move on, but it sure is hard sometimes!"

My reply was "Seeing the person they love wasting away is very difficult to accept. Learning to live with Kennedy's Disease includes living with the anger and frustration that accompanies it. It is part of our growing process. Men are notorious 'fixers.' When we cannot fix something, we become frustrated and that can lead to anger. Caregivers are 'maternal' by nature and they do not want to see anyone they love suffer (or in this case waste away). We all have to learn to live with this disease before we can truly find peace."

"Letting go" is definitely something that does not come easily. Most people want to "hold on" to what they have or even improve it in some way. Letting go or releasing something we cherish is probably the most difficult thing most of us will ever have to do. For example, most of us tend to take our health for granted ... especially when we are young. I know I did. As we mature, however, and are around people with health issues ... especially those we love ... reality begins to set in. Health is a blessing and a daily one at that because we never know what tomorrow will bring. Part of the difficulty of accepting our current condition is the fear of what tomorrow will bring. Fear of the future (of what might come or might lose) is most often the reason we do not want to let go. We want to hold on to today and even wish for that miracle that will bring back normalcy (as we knew it).

It has been forty years since I read the book, "Be Here Now," by Ram Dass. I still (somewhat) remember one of the author's messages (excuse my paraphrasing). As we go through life, there are no shortcuts. Our experiences (including the hardships) are needed (prerequisites) before we can move on to the next phase in our life. If there were shortcuts, we would not be prepared for the next part of our journey. Another message was to "be here now" (focused, living day-to-day, and enjoying each moment) because it is a necessary part of our life before we can move on. When you are living in the present, there is no fear of the future or cherishing the past.

"God will never give you more than you can handle" is another saying that means much the same as Ram Dass' message above. I believe this shortened, modern, saying comes from 1st Corinthians 10:13 where Paul tells us: "God is faithful, and he will not let you be tested beyond your strength but with your testing he will also provide the way out so that you may be able to endure it." I take this to mean that my earlier hardships (prerequisites) in my life helped me accept the challenge I am currently experiencing.

I cannot imagine what it would have been like thirty (plus) years ago if I immediately (or within a short period of time) became the way I am today (current level of
weakness, muscles wasting away, etc.). I would not have been ready for it then. Fortunately, I have had thirty years to learn to live with this disease. I needed every year, and, I am still learning to live with this disease daily. And, yes, I still become frustrated and angry at times ... wanting some sense of normalcy back in our lives (clinging to thoughts of what was at one time).

Even though I consider myself a somewhat happy person, until I can "let go" (truly accept my condition), I can never really "move on" (find true happiness).

Can Gene Therapy Work – Part II

Part I discussed the general subject of gene therapy including the pros and cons. In today's article, I will focus on the possible application of gene therapy as a treatment for Kennedy's Disease.

Gene Therapy and Kennedy's Disease

Recently I received the following inquiry. "Please review the article in Quest Magazine on gene therapy success.  My husband and I have been wondering if gene therapy from a healthy relative could be a cure for SBMA."

I thought this would be an opportunity to learn more about the differences between using gene therapy to treat inclusion-body myositis (IBM) (no, not the computer company) and Kennedy's Disease. So, we asked Mr. Science (the biology professor and KDA board member) and, as usual, he came through for me (why didn't I have professors like him when I was in school).

"This is a very interesting study, and if true, demonstrates a new (at least to me) method of gene therapy.  I hope to have the full copy of the paper soon.  I have the abstract and found a bit of info on the disease referenced in the study, namely IBM.  From what I could gather, the inherited form of IBM is a recessive mutation of the GNE gene.  This suggests that the disease is due to the lack of the normal GNE protein.  The researchers injected a good copy of the gene and their technique allowed the cells to take up this good copy of the gene - and the cells apparently were rescued.  However, note that the report in Quest indicates that not all muscles were rescued.   

Now with regard to Kennedy's Disease, this does not have a simple answer.  The problem with those of us with Kennedy's Disease is NOT that we do not have the function of a particular protein (in our case, androgen receptor, i.e., AR), but that the form we have (that still works) has an additional property that kills nerve cells.  This is what the scientists mean as a 'gain of function' mutation. Thus simply giving the patients a good copy of the AR will not help.  The one we have works fine and since we did not remove it during the therapy, cells will now have two copies, one good (the one we added) and the original Kennedy's Disease one.  The cells will still make the Kennedy's Disease version and so the cells will still die even though they now also have a good copy.  In order to be sure that the technique would work, not only would the therapy have to add the 'good' version of the gene, but one also remove the Kennedy's Disease version - and no one knows how to do that.  It is possible, however, that the progression of Kennedy's Disease could be slowed down by gene therapy - but I do not think that it is known that this would occur. 

I am not sure if I explained that well - so let me use a bad analogy.  Imagine that the protein made by the Kennedy's Disease gene is a watchdog.  The normal watchdog only attacks strangers - that's its function.  Most genetic diseases are due to the lack of a protein so in this analogy, this would be as if we lacked a watchdog (like IBM is due to the lack of a protein).  To cure it, all we would have to do is replace it with a new dog (as they did with the gene in the article).  Now if your problem was that you had a watchdog that not only attacked strangers, but also attacked your family; then getting a new dog will not be helpful as you still have the super aggressive one.  It is necessary not only to add a new dog, but also to remove the old one. 

Kennedy's Disease is like the second scenario.  We need to remove the old form of the gene as well add a good one. 

I hope that this makes a bit of sense - the bottom line is that simply adding the 'normal' copy of the gene probably will not be very helpful.  And if it were, it is unlikely that it would have to come from a relative - most anyone's copy would do." 

I also asked a neurologist and researcher, Dr. Paul Taylor, for his thoughts on the subject.

"There are a few obstacles to this approach in Kennedy's Disease. First, the therapy described here is gene replacement therapy. In other words, this type of muscle disease is caused by a deficiency of the gene in question and the therapeutic strategy is to replace the missing gene. Kennedy's Disease is not caused by deficiency of a single gene; rather, it is caused by toxicity of the mutated gene. Second, the disease described here is primarily a problem in the muscle cells themselves. These are an easier target than motor neurons, which are believed to be the primary cell type affected in Kennedy's Disease. 

That said, it is possible that treating muscle may turn out to be beneficial in Kennedy's Disease even if muscle is not the primary tissue affected by the disease. Maria Pennuto's data published last year suggests that possibility. In that case, rather replacement of a deficient gene, Kennedy's Disease mice had benefit from a muscle-boosting gene called IGF-1. Furthermore, it may turn out that primary muscle involvement is more important than we previously thought (we are working on this presently) which would make muscle an even more important target." 

Like anything else with Kennedy's Disease (and my computer when it acts up), a simple fix will not solve the problem. Perhaps that is why we are so unique (and I say that in a most positive way).

I find it interesting that the subject of gene therapy causes such a dichotomy of opinion. How do you feel about gene therapy ... especially if it became a treatment for Kennedy's Disease?

Can Gene Therapy Work – Part I

The subject of Gene Therapy comes up quite often. It is an interesting concept and a field of study that is making tremendous strides in the medical and research communities today. This is a two-part article on the subject. Part I will discuss the general subject of gene therapy including the pros and cons as well as the ethics of this therapy. Part II will focus on the possible application of gene therapy as a treatment for Kennedy's Disease.

Definition and Background

Wikipedia defines Gene Therapy as "the insertion of genes into an individual's cell and biological tissues to treat disease, such as cancer where deleterious mutant alleles are replaced with functional ones. Although the technology is still in its infancy, it has been used with some success. Scientific breakthroughs continue to move gene therapy toward mainstream medicine."

"Today, most gene therapy studies are aimed at cancer and hereditary diseases linked to a genetic defect. The biology of human gene therapy remains complex and many techniques need further development. Many diseases and their strict genetic link need to be understood more fully before gene therapy can be used appropriately. The public policy debate surrounding the possible use of genetically engineered material in human subjects has been equally complex. Major participants in the debate have come from the fields of biology, government, law, medicine, philosophy, politics, and religion, each bringing different views to the discussion." [Wikipedia also includes a well-written section titled "Problems and Ethics."]

Buzzle.com states "Gene therapy can be broadly classified into two types. One is the somatic cell gene therapy and the other is the reproductive cell or germline gene therapy. In somatic cell gene therapy, the somatic cells are targeted for gene replacement, whereas in the reproductive cell gene therapy, the defective gene lies in the reproductive cells that are replaced by the correct gene."

[Buzzle also provides some Pros and Cons on this type therapy.] "Gene Therapy Pros - The single most important factor that gives gene therapy its edge is its incredible therapeutic potential. The human race has always been under the continuous onslaught of diseases. As we find a cure for some of the diseases, new and more virulent forms of germs attack us. Although such diseases can be cured through medicines, genetic disorders have no cure unless the defective gene is replaced by the correct one and this is what gene therapy aims at. Moreover, by targeting the reproductive cells, such defects can be got rid of for good. People suffering from genetic disorders like Parkinson's disease, Alzheimer's disease and Huntington's disease are some of those whose only hope for cure is gene therapy."

"Gene Therapy Cons - Scientific Issues: Although the most popular choice as a vector, using virus for the purpose is not foolproof. There is a specific point within the host genome where the correct gene should be introduced. There is no guarantee that the viral enzyme that is responsible for this step will be able to introduce the correct gene at the specific point in the host chromosome. Moreover, the body's immune system may destroy the vector as it may perceive the carrier as a foreign body. Then there are problems with introducing therapeutic DNA and the rapidly dividing nature of certain cells that are hurdles in gene therapy providing long-term benefits to patients. Due to this reason, a patient may need to undergo multiple gene therapy treatments. This again focuses on the problem of the immune system. Once the immune system is triggered by a foreign body, it attacks the foreign body more aggressively when it invades the body next time.

Ethical Issues: Given the technology involved, it is obvious that gene therapy treatment will be expensive. It will be just the rich who would be able to afford its benefits. We know the potential of reproductive gene therapy. The scope of this line of treatment triggers the fear of eugenics - a term that denotes creation of a superior race, the idea that media has tried to embody in the concept of designer babies. Although this definitely isn't on the minds of geneticists but it is difficult to erase the repercussions of Hitler's belief in supremacy of the Aryan race.

Religious Issues: Manipulating genetic makeup of man is absolutely unacceptable by those with strong religious beliefs. According to them altering genes is similar to tinkering with nature. It's like questioning God's will or in other words, 'playing God'."

I found the topic of Gene Therapy interesting. I definitely had some assumptions on the subject, but found that there is much more to the story than originally thought. Getting beyond the issues and ethics questions will not happen overnight. When you look at the subject of abortion and consider how volatile that issue is today (37 years after Rowe vs. Wade); it makes you wonder whether gene therapy will develop into a similar controversy.

As mentioned in the lead-in, Part II of this article will discuss the potential application of gene therapy as a remedy for Kennedy's Disease. As they say, "that is where the rubber meets the road."

Happiness is a nine-letter word

In Saturday's chat room the subject of depression came up. Several people on the chat mentioned that had bouts of depression. Many more, including myself, mentioned that anger and frustration was more prevalent in our lives since the onset of Kennedy's Disease. I have discussed frustration several times in this blog. I do not have the cure (still working on that), but I found a good article on ways to feel happier and wanted to share some of the thoughts as well as some of my experiences.

In the Yahoo Health article, "Six Natural Ways to Feel Happier," the author discussed some basic and easy ways to overcome the blues.

• Sweat away the sadness – Research proves that exercise can improve mental health. I wrote about my experiences with endorphins in a recent article. The article said that working out can relieve mild to moderate depression as well as antidepressant medication because it stimulates dopamine in the brain (the feel good chemical). Even exercises like Yoga or stretching can help keep depression at bay.
  
• Eat good food – Fish that contains Omega 3 fatty acids enhances areas of the brain that effect moods. Just by eating salmon, char, sardines or other fish (low-mercury swimmers) twice a week can make a big difference in your mood. Having a baked potato will also help (dose of vitamin B6). Also, foods rich in folate (e.g., spinach, beans and oranges) are filled with serotonin that will break through most blues.
  
• Have sweet dreams – getting seven to eight hours of sleep each night is one of the best ways to beat the blues. People that have insomnia are five times more likely to experience depression. The article gives some helpful hints to help you go to sleep easier and stay asleep.
  
• Claim some quiet time – Meditation is as good as most medications in reducing depression. From my personal experience, it does this and so much more. If you feel uncomfortable trying meditation, just try ten minutes of deep breathing each day. There are some deep breathing exercises in the Smart Exercise Guide.
  
• See the light – Depressed people who experienced one hour of bright light each morning for five weeks experienced a 54 percent improvement in symptoms. Flick on an energy light to read the morning paper or spend some time in the early morning sun. Also try sitting near a window where light streams in.
  
• Phone a pal – It is not surprising that lonely people are more depressed. Strengthen bonds with at least three good friends. Set regular times where you meet at the park (or at the library or mall). Friends will make you feel better almost immediately.
  

I also recommend finding a hobby ... something that you enjoy and takes your mind off everything else. Stan Highe, in a guest post, had some good insights into keeping the juices flowing.

If you have not read some of my earlier articles on helping to work through those down moments and how to remain positive and happy, try these.

• What the heck is PMA
  
• Life is Symbiotic
  
• Endorphins and Warmer Weather
  
• Acceptance is not the same as giving up
  
• It could always be worse
  
• How to deal with loneliness
  
• Coping with Kennedy's Disease
  
• Tai Chi and Qigong
  
• Depression
  
• The Nine Stages
  
• Self Confidence
  
• A New Exercise Program – Part I and Part II
  

The key is to work your way out of those down moments by becoming active (doing something about it). The worst thing you can do is wallow in the muck.

What do you do to keep happy and content? What do you do when you feel yourself becoming a little down?


 

A Remedy for Kennedy’s Disease?

This week I received an email from a board member that had a link to Patients.com.  The site contained information about a patent that was issued June 1, 2010 for "Methods for treating spinal and bulbar muscular atrophy using LHRH analogs." Of course, my blood pressure immediately rose several points and my anticipation grew as I sifted through the pages and pages of medical terminology, references, claims and descriptions trying to find out whether there really was a remedy for Kennedy's Disease. 

The first inkling I got that this was not what I was hoping it was came in the first few lines. The filing date was September, 2006. Something that old would have hit our radar far before this if it were a treatment. My second clue came when I read the doctors involved and the actual treatment. We, meaning the KDA, have been following three clinical trials in Japan for several years using Leuprorelin as a method of chemical castration. 


When I first heard of the clinical trials, I was interested until I began reading up on the drug. What caught my attention was the "C" word ... it always causing my body to cringe. Being an optimist at heard, I decided to see how the trials went before judging the drug just because of the connotation it represented.

One of the more common uses of Leuprorelin is in treating prostate cancer. Long-term use of the drug acts on the pituitary gland in the brain causing it to shut down the production of testosterone and possibly other hormones. Since some prostate cancers grow more rapidly because of testosterone, Leuprorelin reduces the level of testosterone causing the cancer to stop growing and potentially shrink. 
 
Potential side effects are many including:

• Pain and irritation at the injection site.
  
• Headache.
  
• Difficulty in sleeping (insomnia).
  
• Hot flushes.
  
• Dizziness.
  
• Swelling of the legs and ankles due to excess fluid retention (peripheral oedema).
  
• Weight changes.
  
• Decreased sex drive.
  
• Fatigue.
  
• Disturbances of the gut such as nausea, vomiting, diarrhoea or abdominal pain.
  
• Pain in the muscles and joints.
  
• Visual disturbances.
  
• Pins and needles (paraesthesia).
  
• Awareness of your heartbeat (palpitations).
  
• Changes in blood pressure.
  
• Worsening of depression.
  
• Decrease in the number of white blood cells in the blood (leucopenia).
  
• Blood clot in the lungs (pulmonary embolism).
  
• Decreased bone density.
  

Specific side effects in men could include:

• Impotence.
  
• Abnormal enlargement of the breasts (gynaecomastia).
  
• Sweating.
  

Since I was already experiencing several of these symptoms, I wondered how much worse it could get.

Back to the patent ... from my understanding, the results of the trials were neither positive nor negative. In some ways, I breathed a sigh of relief. However, in another way, I was still disappointed. Knowing that there is a possible treatment still causes a level of excitement similar to that when I am first strapped into the rollercoaster at Magic Mountain.

After digesting the patent information, I contacted Dr. Fischbeck at NIH and asked for his opinion. His understanding of the clinical trials was similar to mine. However, he planned to contact one of the researchers involved and hoped to gain a better explanation. When I learn more, I will post a follow-up article. For now, I am back to 127 over 78 and breathing normally again.

Yes You Can

I am reading an interesting book. It is "Heroes For My Son" by Brad Meltzer (Copyright 2010 by Forty-four Steps, Inc.).

The review caught my attention.

"When Brad Meltzer's first son was born eight years ago, the bestselling writer and new father started compiling a list of heroes whose virtues and talents he wanted to share with his son: Abraham Lincoln, Rosa Parks, Jim Henson, Amelia Earhart, Muhammad Ali...and so many more, each one an ordinary person who was able to achieve the extraordinary. The list grew to include the fifty-two amazing people now gathered in Heroes for My Son, a book that parents and their children—sons and daughters alike—can now enjoy together as they choose heroes of their own.

From the Wright Brothers, who brought extra building materials to every test flight, planning ahead for failure, to Miep Gies, who risked her life to protect Anne Frank and her family from the Nazis during World War II, Heroes for My Son brings well-known figures together with less famous ones, telling the inspiring, behind-the-scenes stories of the moment that made them great. They are a miraculous group with one thing in common: each is an example of the spectacular potential that can be found in all of us. Heroes for My Son is an unforgettable book of timeless wisdom, one that families everywhere can share again and again."

A new story shows up in my inbox every day from DailyLit.com. It is a great way to read the fifty-two short stories. Today I read "Unstoppable" about Team Hoyt, father and son long-distance runners. The Hoyts' son, Rick, was born with cerebral palsy and was unable to walk or talk.

"In high school, Rick learned of a five-mile charity run for a newly paralyzed teenager. Rick told his father they had to do something to send a message that life goes on. Even though he wasn't a runner, Dick never hesitated. He'd run the race, pushing Rick's wheelchair the whole way. They finished next to last. It was a victory. At the finish line, Rick typed out these words: when I'm running, it feels like my disability disappears."

With that message, the father knew what he had to do. He kept running in races and his son was always out in front. They ran 229 triathlons, 66 marathons, and 6 Ironman races. "Rick Hoyt still can't walk. But with his father, they both fly."

Team Hoyt's motto is, "Yes you can!"

What a great example of a father's love for his son.

When is a scooter not really a scooter?

I was sent this link to a YouTube video on another innovation from Honda. Since I am a gadget junkie, this concept vehicle caught my eye.

The U3-X Personal Mobility Concept vehicle is the Segway of the unicycles. It goes forwards, backwards, and sideways by just leaning a little in each direction.

EnGadget, and online gadget magazine has this to say about the U3-X. "Yeah, we've seen a self-balancing unicycle before, but the brand new U3-X from Honda takes it to another level. A creepy-sterile, awesomely futuristic Honda level, to be precise. What makes the U3-X particularly interesting is it has the regular large wheel of a unicycle, but that wheel is actually made up of several small wheels in a series, which can rotate independently, meaning that the device can go forward, backward, side-to-side and diagonally, all being controlled with a simple lean. Honda credits its ASIMO research for this multi-directional capability, though we're not sure we see it -- ASIMO is biped, after all -- but far be it from us to discredit an excuse to keep up the good work on the ASIMO front. Right now the "experimental model" of the U3-X gets a single hour of battery and weighs under 22 pounds, with a seat and foot rests that fold into the device for extra portability. No word of course on when the thing might make it to market, but Honda plans to show it off next month at the Tokyo Motor Show."

PCMagazine has this to say about it. "... After the talk, we got a brief primer on exactly how to ride the U3-X: While facing away from the device, hold the seat with two hands and back onto the U3-X. At the same time, put one foot on one footrest. Sit down and then pick up the other foot. This worked for me exactly as described and within seconds I was gliding across the floor. Subtle movements of my upper back and shoulders sent me forward, back and side-to-side. To make, say, a hard right or left turn, I'd put one foot on the floor and gently turn. I rarely had to do this, though, because the U3-X responded to even my most subtle movements. The U3-X can travel up to three MPH, but even at this top speed, I never felt like I had to make a sudden movement to stop or avoid a collision. I just leaned back a bit in the opposite direction and the U3-X stopped. At one point, I rode in unison with another U3-X rider. I never feared falling and noticed that bumping into the other rider didn't send the U3-X or me into a tail spin.

I've ridden a Segway and, while it's an amazing device, it was never this simple or—more importantly—unobtrusive. A product like this that allow personal mobility to the abled and, potentially, disabled, without needing special pathways, or sticking out like a store thumb, is something else altogether." The two videos of the PCMag reporter riding the prototype for the first time were interesting.

MotorTrend Magazine also published an article on the device. "... With the U3-X switched on and the stowable seat and foot pegs locked into position, hopping onto the motorized unicycle is similar to getting on a bar stool, albeit with a rider weight limit of 225 pounds. Per the design, the rider generally maintains an eye-height level with the average walking pedestrian for a natural line of sight. Honda engineers insisted on this comfort aspect because they did not want pedestrians to feel awkward using the device. ... Maneuvering the device is highly intuitive as simple weight shifts and directional nudges are all that is needed to change direction. The engineers at the demonstration recommended smooth, gradual input to get moving on the carpeted floor. Thanks to its small track, riders are able to move swiftly and, with one leg planted on the ground, pivoting remains a natural motion. As the U3-X moves in all directions, it emits a vacuum-cleaner-like motorized noise, something that is likely to be tweaked on later models.

While the U3-X achieves a top speed of 4 mph and an operating life of one hour, Honda asserts the U3-X has been tested and will work outdoors, although any incline greater than 8 degrees and rough terrain will be problematic. It takes 90 minutes to fully recharge and mobility on wet surfaces was also an unproven operational element."

Guardian.Co.UK also reviewed it. "... The president of Honda, Takanobu Ito, said the vehicle was merely "a proposal" and the company had no sales plans, pricing or firm ideas on where or how it would be used. ..."I may want to use it in my home," Ito, the President of Honda said. "It'd be easier to get around so I might really use it if my legs grow weaker."

Another article mentioned that this innovation might lead to a new wheelchair design ... one that uses the same type wheels. This would allow a wheelchair to be far more mobile in small spaces. Since this is only a concept, there are no marketing plans or pricing available.

The innovations and concepts are simply amazing. Unfortunately, it might take years before the robotic assist devices and concept uni-vehicles are available. If I was only twenty years younger, I might be scooting around town in one of these someday.