Thursday, December 31, 2009

Happy New Year

I hope you do not mind, but today's post is made up of some random thoughts.


I hope your Christmas was good. I thoroughly enjoy this time of year. There is something special about it. Not only because of the religious aspects or the fact that it normally brings the family together, but also because many people seem to open up and seem to be happier during the holidays. It does not take much for someone to smile when thinking how his/her children will act when they see their gifts. In fact, just thinking about the joy on my nieces' faces this year brings a smile to mine.

Beginning sometime around Thanksgiving each year, I find myself singing Christmas carols. I believe this trait goes back to my childhood where my mother always sang while she worked around the house. Today, however, my wife gets a little tired of hearing the same songs sang every day, throughout the day, for a month or more. However, in the Spirit of Christmas, she puts up with it. One of my favorite carols is, "Little Drummer Boy." I also like other wintertime favorites including, "Let It Snow."

Childhood Memories

The Christmas season always brings back wonderful memories of my childhood.

I have always enjoyed singing. Some of my fondest memories relate back to Christmas Eve candlelight services where the entire family sang their hearts out. My father was tone-deaf, but that did not stop him from raising his voice in praise of the Lord. After the service, we would go home and enjoy a midnight chili or spaghetti dinner where the men (and boys) would wear dishtowels to protect their white shirts. My mother would also serve homemade buns (delicious). Does anyone make homemade breads anymore?

Speaking of homemade breads, as a child I often woke up to the smell of homemade bread and rolls. Whenever I go into a small bakery today, that smell brings back fond memories. I do not think there is anything better than homemade cinnamon rolls right out of the oven. Mom would also make her own piecrusts. Then, as a treat for us kids, she would roll out the leftover dough, cover it with cinnamon and sugar, and bake it. "Heaven, I'm in Heaven" just thinking about it (there I go singing again).

New Year's Resolutions

I am not one to make New Year's resolutions. I figure if I need to change something, then I should not wait until the end of a year to begin making the change. I also believe that if I make resolutions and do not follow through (break them) that it is demoralizing. However, since I know someone will ask what my resolutions are for 2010, here is my one resolution that I know I will keep.

I resolve that I will not make any resolutions for this coming year.

New Wheelchair

Several people have asked about the status of replacing my wheelchair. Well, it is still in limbo. The 'rep' commented that the demo model appears not to be a viable alternative. He has also received quotes on three other C500 chairs (including a stripped down model with no bells and whistles). I am beginning to wonder if a top of the line Buick would be as good as (or better than) a bare bones Cadillac. I just need to let the 'rep' work his magic and hope everything will work out for the best.


It amazes me how many of us that live with Kennedy's Disease need regular research updates. If the Kennedy's Disease Association does not publish the most current updates in a timely manner, we receive several emails asking what is happening. We live with the disease, but hope for a treatment or cure. I believe that "hope" provides many of us with a certain amount of strength. Yes, it would be nice to see a treatment or cure become available in my lifetime. Being realistic, however, I understand that I need to live my life to the fullest right now. I cannot sit around and wait for the discovery of a treatment. I have to "live for today, and maintain hope for tomorrow."

Happy New Year

Since I will not be posting an article tomorrow, I want to wish you a safe, healthy and happy 2010. Thanks for being a regular reader of my blog.

Tuesday, December 29, 2009

It just takes a second …

The day before Christmas was like any other day. I was getting ready to take a shower. Since there is about a four-inch lip between the floor and the shower stall, I have to step up and then inside. While stepping into the shower, I reached across as I always do to grab the bar and pulled myself up and inside. When all my weight was on my left leg (the one inside the shower), the knee buckled.

Now anyone who has Kennedy's Disease and has fallen a few times is aware of this feeling of helplessness. It lasts perhaps a second, but in that moment you have time to realize that the knee did not hold and that you are going down. People talk about their life flashing before their eyes when a serious accident occurs. Well, every bad fall I have ever taken flashed across my eyes in that moment (a slight exaggeration). I also had time to yell, "Not now!" It is interesting that my only thought (more like a fear) was that it was the day before Christmas and we were planning to go to Marietta to be with family (twenty of us this year).

Now, you have to realize that I have fallen so many times and most falls have not resulted in any serious injuries. My recent record, however, has not been favorable with several fractures and one very serious one. Moreover, my last two serious falls happened as I was preparing to take a shower. Falling naked on a tile floor in cramped quarters is bad enough, but when you break a leg in the process things become even more complicated. I know from experience that trying to get dressed (it is funny how that becomes very important at the time) on the floor in the bathroom with a broken leg is difficult, to say the least, and very painful.

Well, fortunately for me (and especially for my wife), my quads held this time and I did not go down (another miracle). I wrenched my knee and it was a little sore, but otherwise I was unharmed. I kept on saying, "Thank you, God" repeatedly as my heart rate started to return to normal. I will credit my exercise program for this "save." It must be working, because in the past I would have been down for the count.

The brain is an amazing thing. It is the fastest processor imaginable. How all these thoughts and visions could take place in a second while the central nervous system is sending messages to your quads to "hold" is amazing. It all worked this time … thank God!

Sunday, December 27, 2009

Research News

[Note: This post is a little longer than normal, but for those interested in Kennedy's Disease research, I felt anything shorter might not be sufficient]

For those of you that use Google Alerts or some other notification service to keep track of Kennedy's Disease research, you might have noticed that over the last few weeks there has been 2-to-5 articles a day. This is extraordinary considering how rare the disease is. If you do follow Kennedy's Disease research, you might also be interested in Huntington's Disease research since the two diseases are similar in many ways.

On Christmas Eve, BBC News reported, "A molecular switch that can prevent Huntington's disease from developing has been found in mice."

Even though there are some differences in the two diseases, the first portion of the article sounds almost like an explanation of Kennedy's Disease. "Huntington's disease - a neurological condition that starts to show in mid-life and slowly impairs a person's ability to walk, talk and reason. Children who have one parent with the condition have a 50% chance of developing it themselves and often it is passed on before people are aware that they have it. There is no cure for the illness and treatment focuses on managing the symptoms.

Study leader Dr William Yang said together the studies suggested a new direction of research into the formation and clearance of the Huntington protein in the disease process. "We were surprised to find that subtle modification of only two amino acids in this very large protein can prevent the onset of disease. "This finding suggests an exciting new avenue to develop therapeutics for Huntington's disease."

Huntington's Disease Association head of care services Cath Stanley said: "Although in the very early stages, this research offers an exciting avenue of exploration in the quest to prevent or slow down the disease process."

Although it is known that a protein mutation underpins the disease, it is not exactly clear how that mutation causes the damage seen in those with the condition. In the latest study, researchers found a small section of the mutated protein that can be modified by phosphorylation - a chemical process in the body that alters how proteins function. In mice they found blocking this phosphorylation caused the animals to develop disease symptoms."

One of our board members, who is also a college professor, (also our resident expert on Kennedy's Disease) commented on this article: "I am generally not one for hyperbole, but today's BBC webpage had several articles about advances with HD that at first glance could also apply to SBMA.  The first linked article deals with the phosphorylation of HD protein and there is no guarantee that this will work with KD, but ... there is quite a bit of research that indicates that the phosphorylation of the androgen receptor affects the formation of symptoms in SBMA. This includes Mara's work with IGF-1 that we have and are presently funding.  It may be a good sign."

The comment on "Maria's work with IGF-1" is in reference to the current research of Maria Pennuto. In my earlier article, "Another Ray of Hope" I commented on her work using an insulin-like growth factor for muscles. Wikipedia explains how IGF-1 works: "IGF-1 is a primary mediator of the effects of growth hormone (GH). Growth Hormone is made in the pituitary gland, is released into the blood stream, and then stimulates the liver to produce IGF-1. IGF-1 then stimulates systemic body growth, and has growth-promoting effects on almost every cell in the body, especially skeletal muscle, cartilage, bone, liver, kidney, nerves, skin, hematopoietic cell, and lungs. In addition to the insulin-like effects, IGF-1 can also regulate cell growth and development, especially in nerve cells, as well as cellular DNA synthesis." Maria was a guest in the Kennedy's Disease Association chat room on November 07, 2009. The transcripts of the chat can be read by following this link: IGF-1.

Gary, another one of us fortunate men with Kennedy's Disease, sent me an article on the results of the Dutasteride trial. This is not new information to those that participated in the trial, but for those that missed the earlier article in the KDA newsletter, it does a good job of explaining the results of the trial. The key points in the article follow: "Patients derived some benefit from treatment with the 5-alpha reductase inhibitor, which converts testosterone into more potent dihydrotestosterone, as a result of a significant reduction in their number of falls and improvement in their physical quality of life. After 2 years, patients treated with dutasteride had virtually no appreciable increase in weight-scaled quantitative muscle assessment scores from baseline – the primary efficacy measure – whereas the scores in patients taking placebo declined by 5% from baseline. This difference was not significant, according to the investigators. On the Short Form-36 quality of life questionnaire (version 2), the physical component summary improved by about 14% from baseline for dutasteride-treated patients, which was significantly different from the 10% drop recorded in placebo-treated patients. Significantly fewer falls occurred among patients who were treated with dutasteride than among those who received placebo (9 patients reporting 40 falls vs. 16 subjects reporting 63 falls). However, patients who took dutasteride fared more poorly than those who took placebo on the mental component summary of the questionnaire, in which patients on placebo had a 10% improvement and patients on dutasteride worsened by about 7%. The muscle strength of men who were taking placebo declined by only 2% per year. "With such slow progression, longer trial duration or a more sensitive outcome measure may be needed to show therapeutic benefit," the investigators wrote on their poster."

Tuesday, December 22, 2009

From our house to yours …

This will be my last post until after the holidays. Over the next several days, we will be celebrating the Spirit that is Christmas with family and friends. Our focus this year will be on making this holiday season extra special for two people that we love dearly.

Looking Back Upon the Last Couple of Years

It is said, "You should never judge another man (person) until you have walked two moons in his (or her) moccasins." Because of these last few years, I am gaining a greater understanding of what this saying means. Except for a few minor hiccups now and again, our life (my wife and I) has been blessed in so many ways. These last couple of years have been a challenge, however. Yes, the economy has wreaked havoc on several members of our family. Even more important, however, because of the death of a dear friend, serious health concerns in my wife's family, and several health scares in my family, we are being challenged in ways we have never experienced before. Through this period, we have gained a greater understanding of our current health care system (both the good and the bad). Needless to say, it has been and continues to be a growth opportunity for us.

My First Five Months of Blogging

Back in August when I decided to start this blog (web log); I was not certain if I could write three-to-four posts a week for very long. I felt I had a message for those of us living with Kennedy's Disease. And, I had always enjoyed writing, but I did not want to feel tied down by the blog (I did not want it to become work). I also realized that I had a very selective audience … those living with Kennedy's Disease as well as family and friends. When I first considered starting the blog, my concerns were:
  • How do I keep it interesting?
  • Will people even read it?
  • How do I keep the content personal, entertaining, and educational (without preaching)?
  • Can I sustain it for very long (will the stories continue to flow)?
  • How do I keep it fun for me?
Five months later, I still harbor some of those concerns. "Living with Kennedy's Disease" has had 516 unique visitors. This month I am averaging 16-25 visitors a day. I receive at least one-to-two comments a week. Some of the comments reflect empathy and support, while others find the information provided helpful and interesting. Still others are appreciative that I have come out of the closet, so to speak, to tell my personal story (the good, the bad, and the ugly) of living with Kennedy's Disease. Thank you all for your kind thoughts and support. Your comments make it easier to come back to the keyboard every day or two to write another article.

I cannot sign off without asking that you keep the men and women of our armed forces, along with their families, in your hearts and prayers this holiday season. They need our support.

Come back and visit again after the first of the year. Until, then …

I wish you and yours, "Peace and Love," along with "Health and Happiness," during this holiday season and throughout the coming year.

Merry Christmas


Happy Holidays

Sunday, December 20, 2009

Patience is a Virtue

How does that saying go? God grant me the serenity to accept things that I cannot change, and to … (what was it that came next?). Forget it!  I don't have time for this!  

 There was a time when I was a patient guy. I accepted anything positive or negative in life as part of my journey while thinking, "this too will pass." Somewhere along the line, the "acceptance" pill became much more difficult to swallow. It seems like I am always choking on it these days.

I believe a part of the problem is my "fix it" mentality. If that is not bad enough, I not only want to fix it, I want to "fix it now."
  • The room needs painting
  • The bird feeders need filling
  • The Christmas tree needs to be put up and decorated

This attitude seems to get me into a lot of trouble because many times things just cannot be fixed. To complicate matters, I no longer have the strength, endurance, dexterity and balance to fix many things. I cannot rely upon my arms, hands, and legs to last for the duration of the project. This has become a major source of my frustrations.

Another part of the problem is my belief that "this should not be that difficult." Boy, does this one get me into trouble.
  • Making dinner
  • Hooking up a new HD television
  • Fixing a leaky faucet 

When you combine "fix it now" with "this should not be that difficult" when tackling a project, watch out because I might blow a gasket. Something as simple as putting on a heavy winter coat, for example, should not be that difficult. When you are trying to do it while sitting down and wearing a big sweater, another level of dexterity and complexity is added to the task. Several times my arms have become stuck about half way down the sleeves and I cannot get the coat on or off without a struggle.

I cannot blame Kennedy's Disease for my loss of patience. I believe that a lot of the problem stems from me not mentally and emotionally adjusting to the fact that I am no longer the "man of the house."

What I cannot figure out is why I can occasionally accept the difficulty and complexity of some things without my blood pressure rising one point. Perhaps it is because of the attitude I have going into the project or daily routine. If, ahead of time, I do not have any unrealistic expectations (I accept that it will be difficult and perhaps impossible to fix or make) and I do not self-impose a time frame to accomplish the task, I have a peaceful and somewhat enjoyable (rewarding) experience.

You would think that a peaceful and rewarding experience should be the goal every time I begin a project. Unfortunately, with my current "mode-of-operating" in this world, I act first without thinking everything through. It would be helpful if I developed a mental checklist of questions to answer before beginning any project. Some of the questions could be:
  • Is it realistic for me to attempt this project?
  • If not, is there help available or should I ask someone else to do it?
  • Do I have everything necessary (i.e., the right tools and conditions) to do the job?
  • When does the job have to be done?
  • What happens if I find out that I cannot fix (or make) it halfway through the project (when is it time just to walk away)?
  • What is the best and worst case scenarios for this project?

Just writing these questions was helpful. I am certain I can refine them further with a little more thought. I need to keep this list available until I have used it enough times to make it a part of every project.

More importantly, I need to adopt a positive mental attitude when it comes to any kind of project or routine. My mantra needs to be something like:

"Patience fosters acceptance"

… and …

"Realism tempers expectations"

Above all, I need to remember that, "Impatience and unrealistic expectations result in frustration and anger."

I will leave you with the Serenity Prayer: "God grant me the serenity to accept the things I cannot change, the courage to change the things I can, and the wisdom to know the difference."

Thursday, December 17, 2009

Should Kennedy’s Disease influence your life?

One of the benefits of this blog is that it allows me to dwell on some interesting subjects concerning living with Kennedy's Disease.

There are many decisions that have to be made as you age with this disease. Personally, however, I feel that Kennedy's Disease should not be a determining factor in deciding a person's direction or purpose in life. Kennedy's Disease might be an influencing factor (especially later in life), but not when you are still young.

Recently, a young man asked my opinion whether he should pursue a certain career knowing that he might have Kennedy's Disease. Specifically, should he not go to medical school because as Kennedy's Disease progresses, he will not be able to perform his work (e.g., surgery)? I believe a major concern was whether he should acquire a large number of college loans to finish medical school when he might be forced to retire early from that profession.

If you are in your 20's or 30's, there is still a lot of living that can and needs to be experienced before Kennedy's Disease becomes a determining factor in your life. That being said, I also feel that you should prepare for the future by making certain you have proper health care and disability coverage ... just in case.

I just can't imagine what my life, and my wife's also, would have been like if Kennedy's Disease was the primary factor for consideration in everything we did in our 30's and 40's. When I was in my early 40's, I rolled down several mountains in Washington State when my legs just gave out after hiking for hours on end. Guess what, after each fall I got up, brushed myself off, and limped back to the car. Yet, as we walked, we talked about where we should hike the following weekend.

There were also many other physical challenges at work (especially while traveling), but it never really slowed me down until the mid-to-late 50's when more and more falls resulted in injuries. After a couple of broken legs and some torn ligaments, I realized that Kennedy's Disease finally needed to be a factor in my work.

I know of many others who have even better stories about how they lived life first ... even into their 60's and 70's. One man in his mid-60's still snow skied even though he commented he was slowing down a little. Another man felt he was ready to quit bricklaying now that he was in his early 60's. He was just concerned how he was going to spend his days.

All I would ask of any young man, who is concerned about how Kennedy's Disease will affect his future, is that he just be smart about it (put safety first). As the disease progresses, do not automatically say I can't or I shouldn't. First, look for ways to still make things happen … perhaps by using a mobility aid (cane, walker, wheelchair, etc.).

There are many benefits to having early testing and detection of Kennedy's Disease. It can also be negative if the person starts asking, "what if," or commenting, "maybe I shouldn't" too early in life. Personally, I do not want my daughter or grand children tested. I feel it would place an unnecessary burden on them and might change how the grandchildren are treated or live their life. Let them be children and young adults without having to live with the burden of "when" and "how bad will it be." If a treatment or cure is discovered, there will be plenty of time to get them involved in a treatment program.

I believe life should be lived to its fullest (quality should come first). It is also good to know your limitations. However, you are doing yourself a disservice if you self-impose preconceived limitations.

Tuesday, December 15, 2009

It was a coin flip …

And, I lost.

Spinal Bulbar Muscular Atrophy, aka Kennedy's Disease, is an X-linked disorder. In other words, an X-chromosome is defective (mutated). Kennedy's Disease is caused by a trinucleotide repeat expansion in the androgen receptor gene. This means that the cytosine-adenine-guanine (or CAG) that are normally repeated 1036 times mutate (expand in our DNA
string) to produce a larger repeat size of approximately 4062.

This CAG sequence is unstable and can change from one generation to the next leading to further expansions. If the person with the defective gene is the father, he cannot pass the gene on to any sons. However, he will pass the defective gene on to all the daughters. If the person with the defective gene is the mother, she is a carrier. With a carrier, there is a 50% chance that the defective gene will be passed to any of the offspring.

Often, there is a misconception that 50% means half of the offspring will have the defective gene. 50% = one out of two chances, right? No, it does not work that way. As with any coin flip, heads could come up five, six, or seven times in a row, for example, before a tails comes up. Alternatively, tails could come up several times before a heads finally comes up. The 50% means nothing more than over a very large number of flips, half of the time it will be heads.

My mother was a carrier. Either her mother or father passed along the defective X-chromosome to her. We do not have any family medical history that would help us determine whether it was her father or mother that had the defective gene. My mother gave birth to ten children (3 girls and 7 boys). If the 50% rule worked exactly, five of the ten siblings would have the defective gene. In our family, however, only three of the ten children have the defective gene. I know of other cases where all of the children have the defective gene. The only way to be sure is to take the DNA blood test for Kennedy's Disease.

Now, there is another misconception. Even if you have the mutated gene, that does not mean that you will have all the symptoms or when the onset of the disease will occur. Not everyone with the defective gene is going to respond the same. Onset could start as early as the teens (this is rare, however), or it could also start in the sixties. Normally, the onset will occur in the thirties or forties. One person in the family might have most of the symptoms, while another might have only some of the symptoms. The severity of the disorder is also not the same within a family. There is a belief, however, that the higher the number of CAG Repeats, the greater the severity.

So, when my father's sperm fertilized my mother's egg, I lost the coin flip (it came up tails = defective gene). I also have 53 CAG repeats (on the higher end = more severe).

No wonder I have never won the lottery! No, wait, perhaps it is because I never play the lottery.

Sunday, December 13, 2009

How Do I Become More Resilient?

As you could tell from my previous blog, I was feeling a little frustrated the other day. Sometimes I just need to vent. However, being a believer in the comment that, "nothing comes into this world (my life) uninvited," I realized that I needed an attitude adjustment.

It always seems that if I am feeling frustrated, something happens that causes me to straighten up (change my attitude or perspective).  This time, it was an article in another blog.  Goodlife Zen, Practical Inspiration for a Happier Life, had an article on "Why Some People Thrive No Matter What Happens.  The guest author, Gail Brenner, commented that the key to remaining resilient is to not identify yourself as a victim.

The dictionary defines "resilient" as: recovering readily from adversity; elastic, rebounds easily.

I remember the old Timex commercials where the watch would go through some ridiculous situation that no watch should survive and then John Cameron would say, "Timex … It takes a licking, but keeps on ticking." Now that was some "resilient" watch.

Ms. Brenner commented, "Resilient people understand that anything can happen. They realize that the world isn't fair and that difficult things can happen to the most wonderful people. They feel their emotional reactions, then figure out how to pick themselves up and move forward. It might take a long time and happen in tiny increments, but the predominant movement is toward living and not just existing."

Another key comment in the article was, "Being resilient means understanding that we cannot control what happens to us, but that we can control how we relate to what happens. We get to choose. We can carry around the tragic events of our lives, letting them color the way we view ourselves and the world, or we can prosper." I believe I mentioned "attitude adjustment" in the first paragraph. Feeling frustrated is something that happens only occasionally, but it happens nonetheless. Frustration is usually followed by acceptance. Once I have accepted the situation, life seems to move forward again.

"People who are resilient accept what happened, but resist defining themselves by it." The author mentioned a study that revealed a number of qualities that resilient people have that encourage thriving even when something negative occurs in their life.

Resilience People have:
  • "Strong relationships with people who support, encourage, and reassure;
  • The willingness to allow strong feelings – anger, grief, fear – without avoiding them;
  • The ability to make a plan and carry it out;
  • Confidence – an attitude of "I can," rather than "I can't." Trusting oneself and one's abilities;
  • The capacity to learn from life experiences.
  • Self-care. Resilient people are attentive to their own needs. They nurture themselves, and seek out help when needed."

I found that the following really struck home. "Resilience is not about a falsely optimistic … view of the world. It is about being realistic with what happens, … and not turning away from struggling. Resilience is about engaging with life."

Okay, I had my two "bad attitude" days and even though I do not like my current weakened state, I have adjusted to it and life goes on.

In closing, I want to thank the people who sent me encouraging comments. Luis was very kind when he said I could contact him anytime if I needed to vent. That was special and reinforced bullet one about having "strong relationships with people who support, encourage, and reassure."

Friday, December 11, 2009

I woke up feeling weaker yesterday morning …

In an earlier post, I mentioned "the slide." That is something I dread. Another little frustration is waking up feeling weaker. Fortunately, it does not happen often, but when it happens, you do not know whether you are beginning the dreaded "slide," or just having a bad day.

Thursday morning was one of those days. I noticed it immediately when trying to stand up from the commode. I had to struggle a little more than normal. Then, when trying to stand up from my chair, I almost did not make it. It was very cold that morning (24 degrees) and my hands were not working well either. After I came back from walking Fred, I just could not stand upright without help. My exercise program was also more difficult than usual. Throughout the rest of the morning, I found it difficult to stand up or remain standing. At times I had to lean way over my legs and grab onto something in front of me until I could finally stand upright (frustrating and a little dangerous). To add to it, my arms and legs were also aching all day.

On days like these, I need a couple extra of inches of padding to raise my seat height to ease my effort to stand up. This morning was again very cold. I am still weak, but, fortunately, not as bad off as yesterday. I still do not feel confident standing (I feel like an accident waiting to happen).

[Complain … complain a little more … and complain one more time so you know I am serious]

As long as it is just an anomaly, I can handle it. Unfortunately, whether I can handle it or not does not matter, because it happens. I just need to suck it up, adjust my routines accordingly, and get on with life.

Now I realize that so much of what happens and how I feel should not affect my attitude, but it often does. There are times where I just want to tell someone what a cruddy day I am having. I realize that no matter what I do or say is not going to make any difference, but it just feels good to get it off my chest.

There, I feel better already.

Thursday, December 10, 2009

Everyone is Feeling the Pinch

I believe I mentioned in an earlier post that contributions for Kennedy's Disease research were substantially lower this year. We had hoped to fund more research grants, but actually had to dip into savings and operating reserves to fund the three top grants. Until the economy turns around and contributions improve, the KDA, like everyone else, has to tighten its belt and scrutinize all expenditures.

Today, I received word that the MDA is also cutting expenses and reducing benefits because of reduced contributions. Below is an excerpt from the MDA letter explaining their current financial situation.

"We're currently struggling with developing a balanced budget for 2010, which means further expense reductions. To date, we've closed 2l field offices and retrenched 120 positions. We're continuing the reduction of clinic grants by l0%, as well as reducing by 5% second and third-year funding for research grant renewals. Nonetheless, we now find ourselves needing to make the following cost adjustments in order to preserve to the greatest extent possible our most critical research and services initiatives. Accordingly, effective January 1, 2010, MDA will no longer:

o Assist with the purchase of new durable medical equipment. We'll make every effort to meet equipment needs through our National Equipment Resource Program (formerly MDA equipment loan closets).

o Cover the cost of transportation to MDA clinic appointments. MDA staff stands ready to assist with obtaining transportation to clinics through local resources."

New durable equipment includes braces, wheelchairs, communications devices, and other orthopedic equipment. If you were planning to receive any support from the MDA for any durable medical equipment, I would recommend that you contact your local or regional MDA office immediately for additional information on what this cutback means to you.

What hurts even more is the reduction in new clinical grants and grant renewals supported by the MDA. Researchers need the support of the KDA and MDA to help continue their research projects.

Let us hope that the economy continues to move in a positive direction in 2010.

Tuesday, December 8, 2009

A Hint of Things to Come

When I look back on the days when I did not know I had Kennedy's Disease, several instances come to mind as warning signs. Perhaps when they happened something flashed in my mind, but it was easy to forget about the occurrence and just get on with life. No particular instance stood out by itself, but when you looked at the trend over four or five years it should have been a warning to me.

The first signs were when I was in the late twenties and playing racquetball almost daily along with lifting weights and running. I remember my racquetball coach commenting about my muscles twitching (the arms and legs) after a good workout. To me, it almost felt like I was having a sugar high because of the tingling sensations throughout the body. My coach thought that it was an issue with me not eating enough carbs before working out. I was not so sure, because I had never experienced these sensations or twitching before.

It was also right about then that I would wake up in the middle of the night with painful leg cramps. I would massage the cramp until the pain went away, but often it would be sore for days. During that time, I was having cramping three or four nights a week.

A couple of years later when I was thirty years old, we moved to Florida. Every day I was in town (not traveling on business), my wife and I would have lunch at one of the lakes and then take a walk around the lake before going back to work. One day, while walking hand in hand around the lake, my legs just gave out and I went down. I felt like a clumsy fool and hoped no one saw me. I was fine afterwards except for a little bruised pride.

Around the same time while playing a game of tennis, I went back to cover a lob. While backpedaling, I lost my balance and went down hard. Again, I could not figure out what happened. I was embarrassed, but also a little upset because I lost the game (I was very competitive).

A year or so later, we moved to Pennsylvania. We lived in the country surrounded by apple orchards. My wife was a power-walker at the time, and she loved to push herself while walking through the hills and valleys. I enjoyed walking with her, but found that I could not keep up with her. As time passed, I found myself turning around earlier and earlier in our walks. Eventually, I just told her to go by herself because I was holding her back (that was particularly difficult for me to admit).

About the same time, my maintenance manager asked me to stop by the shop to look at some trailer damage. For years, I had just jumped up into the back end of a trailer without even a thought. This particular day I remember walking over to the trailer, putting my hands on the back end, and trying to hop up. I could not get up. After three or four attempts, the maintenance manager wheeled over some portable steps. Boy was I embarrassed. This was about the time that I began telling people that I had bad knees.

Who would have ever thought at the time that these were the beginnings of living with Kennedy's Disease? And, even more interesting, who would have thought that thirty years later I would be sitting at my desk writing about these trivial moments in time?

Sunday, December 6, 2009

Don’t Forget to Smile

As we age, many of us with Kennedy's Disease begin to lose some of our facial muscles. Specifically, the cheek and lip muscles begin to atrophy. One day, we find ourselves looking in the mirror and noticing we no longer have a smile. In fact, it looks more like a crooked sneer.

I saw it on my face for the first time a couple of years ago. It was not too noticeable at first, but over time, I found myself becoming more self-conscious with the sneer. Where once I thought I had a good smile, I now find myself not smiling when my picture is taken. I will grin, but that is as far as it goes.

About three months ago, I noticed that the left side of my mouth (mainly the lower lip) was drooping slightly. It is not too bad yet, but it is drooping down. I often catch myself with my mouth slightly open (my wife calls it "catching flies"). I remember my older brother whose bottom lip drooped dramatically. In my second blog post titled, "Now I am my Brother," I mentioned that as I grow older I look and act more like my brother. The drooping lip and sneer are just two more examples of the progression of the disease.

For the last few years, I have been doing face and throat exercises daily to help keep the muscles toned. The exercises seem to help, but I cannot seem to stop the progression. I never considered myself a vain person, but my discomfort with my crooked smile (sneer) is causing me to think before I smile in public. (Who thought that would happen) I guess I should be thankful that I had a good, wholesome smile for all of these years … not like some people.

Friday, December 4, 2009

Learning How to Just “Be There”

My wife's father is going through some serious health issues right now. I see my wife struggling with the feeling of helplessness that comes at a time like this. Today, she received more bad news and I wanted to be there for her. Unfortunately, I felt that not everything I was saying was helping. The frustration and discomfort I was feeling made me think of how my father handled these delicate situations.

My father had a gift; one that I do not possess. He could "be there for you." My dad spent a good deal of his non-working time visiting shut-ins or people in the hospital. On several occasions, I went with him to help perform some needed chores around the person's house while he or she recovered. The one thing that amazed me was his ability to "be there" without intruding. Many times, he would just sit there in the room without saying a word. At other times, he would be chattier than his usual self.

I asked him one time how he could just sit in a room with a person for over an hour and not say anything. He responded, "You do not always have to talk to carry on a conversation." At the time I did not have a clue what that meant.

He also said that often a person, especially someone with a serious illness, does not want to talk about it. They just want to know that you are there and praying for them. He felt you never really knew what was going to happen when you visited someone. It was important that you not "try to say the right words", "try to help" or "try to carry on a conversation." If they want to talk, they will talk. It is your job to be there for them in whatever role they need at the time.

Many a time I saw him just sitting next to someone's bed and holding his or her hand. At other times, I saw him kneel next to the person's bed and pray. More times than I care to remember, I saw him crying afterwards. One time after we left a person's house that was dying of cancer, I asked why he does this if it tears him up so bad. He said, "It is important that people know they are not alone especially when they will be leaving this world shortly." I then asked him how he knows what to say to give them comfort. He commented that he never really knew what to say until he was sitting with the person, but he had faith that the right words would be there when they were needed.

He also mentioned something that hit home much later in my life. "Never say that you know what a person is going through, because you don't."

I must try to incorporate some of my dad's thoughts into how I embrace these situations.

The dictionary defines "support" as: (1) to hold up or provide a foundation, (2) provide assistance to a person, (3) the act of helping to bear the weight or strengthening. Nowhere does this word mean, "to fix." My current mode of operation is to try to "fix" everything. Unfortunately, sometimes things cannot be fixed. I need to be more focused on supporting and empowering by just "being there for them."

Tuesday, December 1, 2009

When in Doubt, Ask for a Second Opinion

In an earlier post titled, "Not Every Health Issue is Related to Kennedy's Disease," I mentioned, "Those of us living with Kennedy's Disease have to always be careful that we do not associate (blame) every unusual symptom or health issue on the disease. If it is not listed in the common symptoms for Kennedy's Disease, make certain you check with your GP and neurologist. Just because we have Kennedy's Disease does not mean we are immune to all other health disorders."

Well, it appears that not just the patient, but doctors, when stumped, can also associate almost any health issue with Kennedy's Disease. This week I received an email from a spouse whose husband has Kennedy's Disease. The man was in the hospital being treated for pneumonia. The doctors had him on a feeding tube and he came down with a terrible case of diarrhea that could not be corrected. The doctors ran all kinds of tests, but could not find anything wrong (what was causing the diarrhea). In the end, they felt that Kennedy's Disease must cause the diarrhea. The spouse did not go along with the diagnosis, so she contacted the Kennedy's Disease Association to confirm the doctor's assumption that diarrhea was associated with Kennedy's Disease.

Do not just automatically agree with your doctor if something does not sound right. Do a little "leg-work" on the Internet and even contact a known expert in the field (e.g., someone that knows Kennedy's Disease) before accepting the diagnosis. If the diagnosis still does not sound right, ask for a second, or even a third, opinion. Doctors make mistakes. Doctors are like most of us when confronted with an unknown; they look for the answer based upon known facts including medical history. I am not saying that is bad, I just believe they can be wrong like anyone else.

I remember when I was a teenager; my parents accepted anything our doctor diagnosed or recommended. Today, I understand that a consultation is just that. It is a meeting of the minds. It does not necessarily mean the diagnosis is correct, it is just the best guess based upon the information and test results that are available.

I believe it is important that we become caretakers of our own health. We need to keep detailed records of doctor's visits, test results, medical history, etc. We also need to understand that we have an opinion and a voice in any diagnosis and treatment recommended. Yes, the doctor is the professional, but it is our body and health. When there is any doubt, just say "time out." And, do not be afraid to ask for a second opinion.

Sunday, November 29, 2009

What the Heck is a Seating Specialist?

About a month ago at the MDA clinic, the ALS Coordinator felt that the wheelchair I was currently using was not a good fit for me. She recommended that I go through an evaluation to determine what type of chair and seating arrangement I should have. After receiving a referral from my doctor, last Tuesday, I went to the Emory University Hospital, Rehabilitation Center, in Atlanta to see a "seating specialist" (who or whatever that is).

Laura, the seating specialist, is a physical therapist who specializes in fitting a person to a wheelchair. She spent two hours with me Tuesday morning interviewing me and testing my physical strength, before she started to evaluate what I needed in a wheelchair. Laura then began to measure my body. It seemed that she measured every aspect of it (distance from the bottom of the knee to the bottom of the foot, distance from the inside of my knee to the back of the buttocks, distance from my shoulder to my buttocks, etc.) I swear that she took at least twenty measurements. After she was through measuring, she then began explaining what was wrong with my current chair and how it was affecting my posture, circulation, energy level, and safety.

After discussing my current and future needs, Laura then explained that once I picked out a chair, and if Medicare approves it, the manufacturer would build the chair from the ground up so that it fit me perfectly. Within the work area, there was at least twenty-five demo chairs including several brands I had never heard of before. After explaining the pros and cons of several models and manufacturers, Laura felt I should test-drive the Permobil C500. She then found a seat pad that I should consider and after the chair was set up for me, I gave it a try.

WOW! Once you have sat in the best, it is hard to go back. I could not believe how comfortable the chair was. I sat up straight without effort and felt totally at ease. The seat cushion was great. The seatback fit me so well that I could not believe how good I felt. Then, they had me use the seat lift. It was wonderful. I now could be eye-to-eye with others that were standing instead of having to look up all the time. The lift and tilt features made it so easy to stand up and transfer. I was no longer leaning way forward trying to get my weight over my knees. I then tried the recliner mode, and in that position, I felt as good as if sitting in my LazyBoy recliner. Laura also showed several other features that the chair afforded me and each was something I had never considered, but now I wished I had.

After I had convinced myself that the C500 was the way to go, reality set in. Only two words can describe my feeling … $ticker $hock! I could not believe the cost. Instead of WOW, I caught myself saying Whoa! The honeymoon was officially over and reality had once again set in.

So, where do we go from here? Laura is preparing a letter for Medicare. My rehab specialist is crunching numbers. In a few weeks, I should know whether there is a possibility that the C500 and I could become best friends. The only problem I can see happening is that I will have to settle for something less.

No matter what happens, I feel that a seating specialist is the way to go for anyone considering a wheelchair. These people know what they are doing. I would recommend to anyone considering a wheelchair to contact the MDA regional office to find the nearest seating specialist in his or her area.

Wish me luck! I think I am going to need it.

Friday, November 27, 2009

The Top 10 Benefits of Using a Wheelchair

Lists are kind of fun. In today's post, I felt it would be good to list the top ten benefits of using a wheelchair.

10. You never become tired while shopping with your spouse.

9. You can go twenty-five miles without breaking a sweat.

8. You have preferred parking spaces all over the city.

7. No matter how crowded, you have a special seating section at movies, concerts, and sporting events.

6. Many movie theaters provide discount tickets or have free admission for anyone in a wheelchair.

5. Most people will step aside to allow you a better view (at the zoo, aquarium, parade, etc.).

4. If you bump into someone (accidentally or on purpose), they almost never take offense and often apologize to you.

3. You never have to complain that you have been on your feet all day.

2. If you have one-too-many, it is almost impossible to stumble and fall.

1. A 300-pound "biker" would not improve his reputation for being tough by stomping on you.

Wednesday, November 25, 2009

A Time to Give Thanks

Thanksgiving is an important time of year for me. It is a time when our family gets together to 'break bread' and share our thoughts. I love turkey and dressing, mashed potatoes and gravy, peas, corn, pumpkin pie, green bean casserole, etc. (you get the idea). I usually eat too much even though I have been a little better these last few years. And, fortunately, I enjoy leftovers as much as the Thanksgiving meal.

Too often, however, we tend to forget what this holiday is all about … a time to give thanks. Many times, we end up stressed out as the food is prepared and concerns linger that everything arrives at the table at the same time. However, I have noticed that once everyone sits down and we all hold hands to pray, sighs can heard around the table and things seem to settle down. At that moment, everything is all right once again.

The older I get the more important it becomes to share ones thoughts and give thanks for what we have. I have so much to be thankful for (the list could fill up a couple of blog posts). Today's post, however, is meant to just touch the surface (random thoughts) of all the things I would like to give thanks for. If I started another list tomorrow, many comments would be the same, but there would also be several new points added. Many of these thoughts are the result of sixty plus years of growing including four years in the U.S. Navy and two Vietnam tours. Visiting several third-world countries and seeing what conditions people have to live in is a real revelation (war, hunger, famine, disease, lack of education, etc.). Coming from a large family (ten children) is also a wonderful experience. My childhood memories are filled with happy moments.

Today, I am thankful for:
  • The men and women of our armed forces, and their families. They sacrifice so much without adequate appreciation, compensation or reward.
  • Being able to live in this country. We often complain about what is wrong, but we seldom say thank you for all that is right. I would not want to live anywhere else.
  • The doctors and researchers who are searching for a treatment or cure. I have said it before, but without them there would be no hope.
  • Modern medicine. It amazes me how far we have come in this field and how fast it is advancing.
  • For our family's health. Yes, as we age our body starts to break down, but we still live long, healthy, and productive lives.
  • Our parents, brothers and sisters, children and grandchildren, nieces and nephews, etc., as well as our friends and neighbors. These people are my support system. Life without family and friends would be pretty miserable and boring.
  • Our financial well-being. Yes, times have been a little tough recently, but the opportunities this country has given us are amazing.
  • Having a sound mind. Don't ask my wife if this is true.
  • And, most of all, for my wonderful, loving, thoughtful, caring and beautiful wife. Without her, life would never have been this good.
Every time I come back and read this post, a few more thoughts come to mind that I could add to the list above. For the moment, I will stay with what I have.  

I will end my post today by asking that you remember those that serve our country as well as their families.  They need our support and our prayers.

Happy Thanksgiving!

Sunday, November 22, 2009

The Loss of Independence

The dictionary defines "independence" as: Freedom from external control or constraint. 

The loss of independence is very difficult to accept. A couple of years ago I realized that I could no longer just hop in the car and go somewhere. Every trip became a logistical consideration. How far will I have to walk? Are there steps or curbs that need to be navigated? Are the rest rooms handicap accessible? What is the weather forecast? Are the walkways paved, rock, grass, or dirt? The list of questions continues to grow as my experiences increase.

For over thirty years, I just took my body for granted. I just assumed that when I needed to walk, run, lift, climb, or whatever, the appropriate muscles would just respond accordingly. It did not take any thought; the muscles just knew what to do. There was always synergy between my central nervous system, motor neurons, and muscles. As the disease progressed, however, I found that I needed to tell, or perhaps even will, certain muscles to function correctly. Unfortunately, even that does not always work. Today, Newton's Law of Gravity plays a major role in my ability to accomplish simple tasks. "What goes up, must come down."  Or, whoever stands up for too long, will fall down.

Several of the muscle groups are no longer strong enough to perform the necessary tasks. I find myself having to compensate, or perhaps even cheat, in order to perform basic movements like standing up from a chair. Additionally, because some of the signals no longer reach the appropriate muscles at the correct time, certain muscles will fire at the incorrect time. This causes muscle spasms (or twitching) that are often noticeable to others. Even stranger is when a motor neuron sends a signal to a muscle to perform a task that is already completed. One example that has happened several times is when I hold a glass of water. Occasionally, the wrist will just turn over as if I am performing the drinking motion function. This happened at a business dinner while I walked around visiting with people (see Embarrassing Moments). I could be just talking to someone when the wrist turns inward and dumps the contents of the glass on the floor and my shoes. It is embarrassing and difficult to explain.

Observing the gradual loss of the use of my hands and legs is almost unbearable at times. I often try to do too much and occasionally end up hurting myself. Yet, I cling to that hope that through some divine intervention, I will be able to do something today that I could not do yesterday. Call it stubbornness or denial; it exists because I still have hope. I repeatedly need to prove to myself that I can no longer do something as simple as walking. Loved ones cannot seem to understand why I still want (and need) to try even though I have failed several times before.

I am just not willing to accept my inability to perform these simple tasks. Will I ever just give up? I hope not! As my father always said, "Can't never could do nothing."

Friday, November 20, 2009

Misdiagnosis – It is still a problem

In the 1980s, my entire family (nine siblings and my mother) agreed to have blood tests after one of my brothers began showing symptoms that could be ALS related. The results of the tests showed that my mother, two brothers and I had Familial ALS. We could have just accepted the diagnosis, but fortunately two of us had good neurologists that recognized the symptoms were more closely related to Kennedy's Disease (Spinal Bulbar Muscular Atrophy).

Even more fortunate, my neurologist referred me to Dr. Kurt Fischbeck, a leader in Kennedy's Disease research, who was at the University of Pennsylvania at the time. I still remember walking into Dr. Fischbeck's office that day. He looked up from his desk and watched me for about ten seconds before commenting, "You have Kennedy's Disease." He said he could tell from my walk (more like a waddle at the time). He still gave me the DNA blood test just to confirm the initial diagnosis.

Even though we have the DNA blood test today for Kennedy's Disease, hardly a month goes by where I do not hear from someone who was initially misdiagnosed. Most of the time the misdiagnosis is ALS. The cause of this problem is in the rareness of our disease (est. 1-in-40,000). Many doctors still have not heard of Spinal Bulbar Muscular Atrophy. Others are still not aware of the DNA blood test.

In almost every case, either the patient or the spouse did some online research comparing symptoms and age of onset, and determined that the condition was probably Kennedy's Disease. Fortunately, the Internet can provide us with easy access to a plethora of information ... at times it can be good, at other times bad, and occasionally even ugly. My suggestion is not to believe everything you read online (including what you read here because I was wrong once thirty years ago). Nevertheless, I would encourage you to do your own research and then take the information (printed copies work best) to your doctor for further discussion.

How about you, were you originally misdiagnosed?

Wednesday, November 18, 2009

Researchers are an Interesting Breed

Because of my affiliation with the Kennedy's Disease Association (KDA), I have been fortunate enough to talk and chat (chat room) with many junior and senior researchers. Most of the time they talk way over my head (my limited level of understanding), but are always patient with me when I ask for a layman's explanation. The KDA is also fortunate to have a board member who is a college professor and who worked in a research lab at one time. This gentleman can explain these processes pretty well (in other words, I can usually understand them).

One thing I have discovered about researchers is their desire to understand (1) how things work, (2) why things do not work, (3) what has to be done to make something work that does not work, and, (4) if you cannot get it to work, is there some way to bypass it without doing any harm. They live in a different world than I do (fortunately for those of us with Kennedy's Disease) … one that focuses on "why" and "what if."

Diane Merry, Ph.D., from Thomas Jefferson University, in a recent chat about current research commented, "We'd like to let the AR (androgen receptor) do its 'day job' while preventing the toxic things (from happening)." Because of our mutated genes ("CAGs – the three pieces of DNA that are repeated and expanded in Kennedy's Disease"), the androgen receptor cannot perform its needed functions (day job).

Diane also commented that, "It will likely be that the best therapies in the short term are those that prevent its (the AR's) normal function as well as its toxicity, … For longer term, it would be nice to allow it (the AR) to do its day job, too!" So, some of the current research is focused on how to manipulate certain things to make the AR not do the toxic things it currently does because of the defect. There are certain FDA approved drugs that would inhibit the AR from functioning (thereby preventing many of the problems). However, in the longer term, it will be better to find a solution that would allow the AR to 'do its day job'. I understand this to mean that until researchers can find a way to make the androgen receptor function correctly, they hope to find a way to stop the AR from functioning (since it cannot function correctly with the mutated gene).

Even though these researchers often work twelve-plus hour days in their labs, they still have to find the time to apply for grants to continue their research. Without adequate funding, the labs would have to close or the researchers would have to abandon their Kennedy's Disease research and look for projects that are more readily funded (e.g., heart and kidney disease, cancer, ALS, and MS).

WOW! And, I was only concerned with how we were going to turn a profit during the latest downturn in the market. Seriously, I feel so fortunate that we have these dedicated people working behind the scenes trying to find that treatment or cure for Kennedy's Disease. These researchers are the unsung heroes in my book. They are the reason I still have hope.

For those who want to learn more about the androgen receptor, I have included below a definition and expanded explanation (with links).

Definition: The androgen receptor (AR) is a type of nuclear receptor which is activated by binding of either of the androgenic hormones testosterone or dihydrotestosterone. The main function of the androgen receptor is as a DNA binding transcription factor which regulates gene expression; however, the androgen receptor has other functions as well. Androgen regulated genes are critical for the development and maintenance of the male sexual phenotype. [Taken from Wikipedia]

Further Explanation: The AR gene provides instructions for making a protein called an androgen receptor. Androgens are hormones (such as testosterone) that are important for normal male sexual development before birth and during puberty. Androgen receptors allow the body to respond appropriately to these hormones. The receptors are present in many of the body's tissues, where they attach (bind) to androgens. The resulting androgen-receptor complex then binds to DNA and regulates the activity of androgen-responsive genes. By turning the genes on or off as necessary, the androgen receptor helps direct the development of male sexual characteristics. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. In one region of the AR gene, a DNA segment known as CAG is repeated multiple times. This CAG segment is called a triplet or trinucleotide repeat. In most people, the number of CAG repeats in the AR gene ranges from fewer than 10 to about 36. [Taken from Genetics Home Reference]

Monday, November 16, 2009

Are You Superstitious?

When you spill salt, do you throw a pinch over your shoulder? If a black cat crosses your path, do you (even if it is only for a second) think about the old adage about 'bad luck'? Will you walk under a ladder? Do you have a lucky shirt or jersey that you wear on game day?

I do not consider myself superstitious. However …

Ever since I was a young boy, I was told, "Bad things happen in threes." Even as an adult, almost every time a plane crashes it seems that someone mentions "the threes." Sure enough, the next crash just seems to confirm the superstition.

A little while back, a friend with Kennedy's Disease called. He mentioned he fell a couple of days ago and had broken two toes. A week earlier when we talked, he had mentioned that he fell twice during their garage sale. (Is this "the threes" again?

His call prompted me to think about the "threes" in my life. For twelve years, I have documented my falls (date, time, place, what happened, and any injury). The spreadsheet has been helpful when discussing issues with my neurologist and useful in documenting my disability. During that twelve-year period, I fell forty-nine times and six of the falls resulted in the breaking of one or more bones. And, as much as I do not want to believe it, it sure seems coincidental that several of my falls happened in groups of three.

Trying to apply some logic to this, I am considering the idea that the trauma caused by an earlier fall might weaken the legs enough to make you more susceptible to another fall shortly thereafter. Perhaps that is why the third fall in a relatively short period usually results in an injury.

What about your experiences? Does "the threes" enter into any of your falls?

Saturday, November 14, 2009

Coping with Kennedy’s Disease …

… and the use of social support systems to help you with that process.

The dictionary defines "Cope" as "To come to terms with." "Living with" Kennedy's Disease or "coping with" Kennedy's Disease means the same in my opinion.

I received an email (a copy of it is shown below) the other day from Amy Kaczmarek, a Genetic Counseling student at Arcadia University. She asked me to complete an online survey to help her better understand, (1) the benefits of social support systems, and, (2) how we cope with Kennedy's Disease. I am not one that likes surveys (it seems that every week I am asked to take a survey), but I thought I would give it a shot to help Amy out. It did not take very long (perhaps 15 minutes).

I wrote Amy afterwards and asked for a summary of her findings. It might help me better understand how I can support others as they learn to live with Kennedy's Disease. It also might be an interesting topic for a future blog post. For these reasons, I would encourage you to consider taking the survey. It is totally confidential (no personal information is asked).

Regarding the survey questions, several of them were thought provoking. Even though the survey did not ask, I found myself asking where I am today (in accepting and coping with Kennedy's Disease) as compared to ten, twenty, or thirty years ago. My answers would have been substantially different twenty-plus years ago. They would have also been different before I joined the Kennedy's Disease Association (KDA) in the mid-90s. Age (the maturing process) and the KDA have both been instrumental in my growth (acceptance and understanding of my condition).

Knowing that I was not alone in this world (there were others out there in the same boat) was reassuring early on when I was first learning how to live with this condition. The twice a month chat rooms with others that shared my DNA defect were in many ways comforting. I cannot really explain why that is, but for some reason it was important at the time. Attending chats where neurologists and researchers brought forward their message of hope was also critical to me.

In closing, I am including Amy's request for support in her genetics research project.

"Hi, my name is Amy Kaczmarek. I am a Genetic Counseling student at Arcadia University. I am requesting that men with Kennedy's Disease voluntarily participate in a research project. I am investigating the use of various social support systems and ways of coping by men with Kennedy's Disease as my Master's Degree thesis project. Participation would involve completing an online survey that takes approximately twenty minutes. Participants must be age 18 or over, have a diagnosis of Kennedy's Disease, reside in the United States, and have internet access. Consent to participate in the survey will be done online prior to beginning the survey. If you know of other men with Kennedy's Disease who may be interested in participating in this research study, please feel free to forward my information and/or the survey link to them.

If you need additional information please contact me:

If I am unable to answer your questions, you may also contact my faculty advisor - Kathryn Spitzer Kim, M.S., C.G.C.:
<> or Phone 215-517-2598

Below is the link to the survey:

Thank you for your time,

Amy Kaczmarek"

Friday, November 13, 2009

An ounce of prevention … Part II

One area of the body that becomes particularly troublesome for those of us with Kennedy's Disease is often the most neglected. As the disease progresses, the face and throat muscles also begin to weaken. Many of us begin to experience problems with swallowing, choking, dry-drowning (Laryngospasm), facial muscle wasting, jaw weakness, etc.

In my Smart Exercise Guide there are a few exercises that will help maintain the throat and facial muscles and possibly delay several of the issues mentioned above. Because of its importance, I felt it might be appropriate to include some exercises in this blog. I practice many of these exercises every day (those shown with an asterisk) and they do help … especially with the chewing and choking issues. If you are having any of the problems mentioned above, try these exercises for a month and see for yourself if they help. One thing nice about these exercises is that you can do them while sitting in your easy chair watching TV. Note: These are just a few of the exercises, more can be found in the Kennedy's Disease Association website and in this PDF.

  1. Stick Out Your Tongue: * Bite down lightly on your tongue to hold it in position. Swallow ten times (or more) while holding the tongue between the teeth. Perform this exercise every day. At first, you might find this exercise extremely difficult. Over time, it will become easier. [Strengthens throat muscles]
  2. Large Smile:* Make the sound "EEEEEEEEEEEEEEEEEEEEEE" as you stretch your mouth muscles into a large smile. You should be able to feel throat muscles vibrate (stretch). Perform this routine ten times. [Strengthens throat and facial muscles]
  3. Pucker your Lips:* Make the sound "OOOOOOOOOOOOOOOOOOO" as you pucker you lips. You should once again be able to feel your throat muscles vibrate (stretch). Perform this routine ten times. [Strengthens throat and facial muscles]
  4. Big Smile: Spread your lips into a big smile, hold for a count of ten and then relax. [Strengthens facial muscles]
  5. Stretch the Tongue: Open your mouth and stick out your tongue as far as possible.  Be sure your tongue comes straight out of your mouth and does not go off the side.  Hold, relax and repeat several times.  Work toward sticking your tongue out farther each day, but still pointing straight ahead. Perform this routine ten times. [Strengthens tongue muscles]
  6. Touch your Nose: Stick out your tongue and try to reach your nose with the tongue tip. Pretend you are licking a Popsicle or cleaning off some jelly from your top lip.  Perform this routine ten times. [Strengthens tongue muscles]
  7. Tongue Darts:* Stick your tongue out as far as you can and pull it back fast. Repeat ten times as quickly as you can. [Strengthens tongue muscles]
  8. Circle the Mouth: Move tongue all around your lips in a circle as quickly, but as completely as you can, touching all of both upper lip, corner, lower lip, and corner in your circle. Perform this routine ten times. [Strengthens facial muscles]
  9. Vibrate the throat: Say Mah-Mah-Mah-Mah as quickly as you can. Be sure there is an M and an AH each time. Then say Lah-Lah-Lah-Lah as quickly and accurately as you can. Perform this routine five times alternating between the sounds. [Strengthens throat muscles]
  10. Hard Coughs: Cough hard several times each day. [Strengthens the lungs and throat muscles]
  11. Clear the Throat:* Clear the throat (um-hum) several times a day. [Strengthens throat muscles]
  12. Expand the Cheeks:* Expand your cheeks as if you are holding your breath. Tap on each cheek while keeping your lips tightly closed. Perform this routine ten times. [Strengthens facial muscles]
  13. Push out the Cheeks: Expand your cheeks as if you are holding your breath. With your tongue, push out on your left cheek and then your right cheek. Perform this routine ten times. [Strengthens facial and tongue muscles]
  14. Cheek Raises:* Expand your cheeks as if you are holding your breath. While maintaining the expanded cheeks, press upward with the left cheek as if you were winking. Switch to the right cheek and wink. Switch back and forth ten times. [Strengthens facial muscles]
  15. Big Yawn: Take a deep breath and open the mouth wide as if you were yawning. With the mouth open wide, move the jaw from side to side. Perform this routine ten times. [Strengthens facial muscles]
  16. Jaw Pushes:* Place the palm of your hand against the bottom of your jaw. While pressing up with your palm, open your jaw as far as possible. Relax the jaw. Perform this routine ten times. [Strengthens facial muscles]
  17. Other Facial Stretches: Close your eyes tight and frown. Raise your eyebrows as far as possible. [Strengthens facial muscles]

If you have some other face and throat exercises that work for you, please let me know.

Tuesday, November 10, 2009

What’s In A Word?

Today, I am pondering what the difference in a word might have in generating more interest in our condition by the mainstream public.

As I explained before, Kennedy's Disease is named after Dr. William Kennedy who was the first person to identify the defect and resulting symptoms. He was a pioneer in this research. The official name of the condition is Spinal Bulbar Muscular Atrophy (SBMA). In my first post, "Okay, I Admit It," I mentioned:

"Several people have asked why Kennedy's Disease is called a "disease" when it is actually a defect in our DNA. When I looked up the word "disease" in the dictionary, it provided a clearer understanding. A disease is "an impairment of health or a condition of abnormal functioning." Well, that explanation does fit pretty well. Kennedy's Disease is a condition of abnormal functioning of the androgen receptors that fire the motor neurons. I still like the scientific name of Spinal Bulbar Muscular Atrophy. Now that is descriptive and it does not sound like something contagious. Does my being bothered by the word "disease" just show an increased level of frustration? Why should it matter what it is called?"

Well, in a recent Kennedy's Disease Association board of directors meeting, we discussed this issue again. Does the word "disease" have a negative connotation to many people? Would it be better to have our KDA logo and SBMA underneath it rather than "Kennedy's Disease Association" on shirts, cups, and other KDA items? If someone saw SBMA, would he or she be more willing to ask what it was than if it said Kennedy's Disease?

I personally do not have anything against using the word "disease." It is just a word. As I mentioned in my earlier post, however, I lean more towards using Spinal Bulbar Muscular Atrophy when I am asked about my condition because I believe the term better describes it. I also believe that because Kennedy's Disease is a rare disorder (est. 1 in 40,000 have it), people are just unfamiliar with the condition. Most people, unless they know you well, will not ask what Kennedy's Disease (or SBMA) is out of courtesy.

I would be interested in your thoughts on the subject. Do you believe that using "disease" causes any more negativity (or concern) than using SBMA?

In closing, I am adding a recent comment from Dr. Kennedy, who is now retired, but still very interested in SBMA and the activities of the KDA. "I am amazed at the wonderful support that the KDA gives to the men and families affected by KD. The progress made by current research on animal models of KD and by therapeutic trials gives reason to hope that the disease that I described 40 years ago will finally be conquered." -- William R. Kennedy, M.D.