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.