Thursday, September 29, 2011


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 Human Genome Research Institute (NHGRI), <>

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 <>.

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 <>.

Wednesday, September 28, 2011

Straighten up and let gravity be a friend

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.

gravity 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]

posture 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.
posture sitting
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.

Sunday, September 25, 2011

Happiness is just a state of mind

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

happiness -3 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.
Happiness -2
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:
  1. The only handicap in life is a bad attitude.  Like happiness, attitude comes from within. 
  2. 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

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

Friday, September 23, 2011

I’m Selfish!

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 theself-analysis 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.”


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 meselfish 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.

Tuesday, September 20, 2011

Cold Feet!

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!

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?

Sunday, September 18, 2011

What can I do today to help?

compassion 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.
  1. A capacity to see clearly into the nature of the suffering … including a desire to transform the suffering.
  2. 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?

Thursday, September 15, 2011

Why is my CPK Count so High?

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 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? 

  1. Recognize that this is a part of the progression process.
  2. Consult with your neurologist.  He/she is the most prepared to address your concerns and discuss options.
  3. 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.


  • 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.


  • 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.

Tuesday, September 13, 2011

Dutasteride and ASC-J9 Updates

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

I was reviewing my journal this weekend. Iavodart_dutasteride 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:


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:

Sunday, September 11, 2011


911-WTC 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-Danny Hahlbolm

World Trade Center Collage
               by Danny Hahlbohm

We must never forget!

Thursday, September 8, 2011

Gravity is the enemy

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.

turtle 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 slidturtle-in-water-2 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.

Tuesday, September 6, 2011

It’s as simple as ‘Mind over Matter’

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, andeating-right 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’.

mind_over_matterBy 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.

Sunday, September 4, 2011

Are you Suffering

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.

suffering 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.freedom-uplifting   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.’

Thursday, September 1, 2011

Are all ‘CAMs’ Elixirs and Snake Oil?

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 ofbook-SnakeOilScience 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:
snake-oil(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,
Elixirs 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?