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.

Monday, November 9, 2009


The dictionary defines "denial" as:
  • The act of asserting that something alleged is not true
  • A defense mechanism that denies painful thoughts
When a person is dealing with the concept of having Kennedy's Disease, I believe there are several forms of denial. In today's article, I will address two common forms.

(1) One type of denial is the refusal to accept that there is something medically wrong with you. It often accompanies comments like, "I am just getting old," "it must be an old knee injury acting up," or "I was always a little clumsy." I am familiar with this form, because I used it quite often in my early thirties and forties. The only way to help the person who is exercising this form of denial is to educate them as to possible health issues and reinforce (do not be pushy) the need to have a discussion with a neurologist. I believe the person already knows that there is something wrong. He just is not ready to accept it (I know I wasn't).

In this form of denial, even when the person begins to accept the fact that he has Kennedy's Disease, he refuses to share the information with others. Often, his pride will not let him 'expose himself' to the world. This is often a dangerous phase for many of us.

I will twist the meaning of the adage, "Pride cometh before the fall," to reflect how this period of denial was a dangerous time for me. When I found out that I had Kennedy's Disease, the last thing on my mind was sharing that information with others, especially my boss and co-workers. My pride (ego, insecurity, or whatever you want to call it) would not let me admit to anyone that I had the disease. I was afraid that by admitting it, the relationships with my boss and peers might change and it could possibly hamper my career. During this period, I experienced several falls while working including one that resulted in a broken bone. Every one of these falls could have been avoided if I had been honest with myself and with my boss and co-workers.

(2) Another form of denial is when family members believe that a person who has been diagnosed with ALS (Amyotrophic lateral sclerosis) actually has Spinal Bulbar Muscular Atrophy (Kennedy's Disease). The family members feel that the person has been misdiagnosed because a father, brother, or uncle has already been diagnosed with Kennedy's Disease. The person, who has finally accepted that he has ALS, does not want to consider the possibility of a misdiagnosis. It was difficult enough to hear the words ALS, so more testing is the last thing the person wants to hear about from you. Fortunately, this happens less often now that there is a DNA test for Kennedy's Disease.

Even more interesting is what happens after the misdiagnosed person has lived passed the predicted five-to-seven year life span for most people with ALS.  He beings telling people that he has beat the odds.  At this point, it becomes far more difficult to accept, and almost impossible to admit, that he was misdiagnosed.  Instead of rejoicing over the possibility of a misdiagnosis, a person will often defend the original diagnosis.

As I see it, most everyone (family included) has to go through several stages of the 'grieving process' before reaching 'acceptance' (see "The Nine Stages"). Unfortunately, some never complete the process. My advice to those concerned family members is not to try to force the misdiagnosis issue upon the person. Providing information on both diseases and be patient. Give him time to consider and accept the possibility that he could have been misdiagnosed. Also, discuss the concern with your family doctor (or neurologist). Whatever you do, however, do not try to force the person to go through more testing. Acceptance will come, but it might take time. 

What other forms of denial have you seen or experienced? How did you work your way through it or help someone else work through it? I look forward to hearing from you.

Friday, November 6, 2009

HELP – My wife is a Vegan!

I poke fun at the fact that my wife is a vegan, but it really does not bother me. I have always tried to support her and for several years while we lived in Pennsylvania, I only ate chicken or fish and no red meat at all. I survived (just kidding) and actually did not miss eating red meats (much anyway). For about two years, my wife even went Macrobiotic. She was probably the healthiest she has ever been and definitely felt the best. I supported her venture and actually found myself enjoying her cooking.

To digress a little, the macrobiotic approach feels that food and food quality powerfully affect health, well-being, and happiness, and that a macrobiotic diet has more beneficial effects than others do. The macrobiotic approach suggests choosing food that is less processed. Macrobiotics emphasizes locally grown whole grain cereals, pulses (legumes), vegetables, seaweed, fermented soy products and fruit, combined into meals according to the principle of balance (known as yin and yang). Whole grains and whole-grain products such as brown rice and buckwheat pasta (soba), a variety of cooked and raw vegetables, beans and bean products, mild natural seasonings, fish, nuts and seeds, mild (non-stimulating) beverages such as bancha twig tea and fruit are recommended. Nightshade vegetables, including tomatoes, peppers, potatoes, eggplant; also spinach, beets and avocados are not recommended, or used sparingly at most, in macrobiotic cooking, as they are considered extremely yin.

Back to the point, on our way to Georgia (our new home) I saw a billboard for Steak-n-Shake. When I lived in Georgia in the 70's, I would eat at a Steak-n-Shake once or twice a week. They made great hamburgers and wonderful shakes. Well, the billboard said that if I took the next exit, there would be one right around the corner. Something (I am not certain what) took control of the steering wheel. I soon found myself stopped at the drive-thru speaker and ordering a double steak-burger with everything and a large chocolate shake. With every bite, memories of my younger years flooded through me. I felt like I was in heaven (but I also was feeling a little guilty).

Well, ever since I crossed over to the dark side, I have enjoyed my red meat (and shakes). I justify it by telling myself that I need the protein. I still enjoy chicken and fish (probably prefer fish to anything else), but something keeps on taking control of my body when I approach a Steak-n-Shake or Hardies.

Because I constantly complain (in a kidding manner) to neighbors and friends that I am starving, they break down and bring me leftovers (the ones with meat in it). My wife has become accustomed to my ranting and just ignores me when I get on one of these kicks.

Well, I found out that yesterday, when she was with three other friends on a shopping trip in the mountains that they tried to give her gas money. She refused the money, however, and commented that if they really wanted to do something for her, they could bring me their leftovers (the ones prepared with meat). VICTORY!  Score one for the home team!

Wednesday, November 4, 2009

MDA Clinics

I just had my semi-annual visit to the Muscular Dystrophy Association (MDA) Clinic. It is always an experience. The clinic I attend has neurologists and students from Emory University School of Medicine. I have been attending this clinic for over five years. My neurologist is Linton Hopkins, Jr., M.D., and he is great. I always enjoy seeing him. Dr. Hopkins is also very supportive of the Kennedy's Disease Association. He always introduces me to his students as a "rare bird."

The MDA Clinic also gives me an opportunity to educate upcoming doctors on Kennedy's Disease. 99% of the students have never heard of Kennedy's Disease or Spinal Bulbar Muscular Atrophy, so that always makes it interesting. The MDA Clinic is also a valuable resource for other services. A MDA representative is always on hand to discuss other needs and opportunities. These representatives are quite knowledgeable and have a long list of other resources readily available.

This visit was interesting because I am looking at getting a new wheelchair. Knowing that the next chair needs to last five years or more before being replaced, I have to make some decisions as to my current and future needs. The MDA representative recommended that I schedule an appointment with an occupational therapist (OT) at the Emory Hospital. This OT is familiar with progressive disorders and will have a much better understanding of my future needs. Unfortunately, Emory is a two-hour trip (each way). I do not look forward to spending a long day on the road and sitting in a hospital, but this might be a good opportunity. One additional benefit is that this therapist has several chairs available for testing to make certain I am comfortable with the capabilities and controls. 

Reference the MDA, I recommend that anyone who has Kennedy's Disease should register with them. They have a multitude of resources and support services available. My only complaint with the MDA is that they do not have any group or person focused on Kennedy's Disease support (it is
a rare disorder). That is one of the primary reasons why the Kennedy's Disease Association was formed. Fortunately, both organizations offer somewhat unique, but complimentary services.

So, if you have Kennedy's Disease and have not registered with the MDA, please go to In the middle of the home page is a form to "Find your local office." In addition, if you have not joined the Kennedy's Disease Association (KDA), go to Near the top of the home page is a "Join the KDA" button. You will be glad that you joined both organizations.

Until Friday then, stay healthy and upright.

Monday, November 2, 2009

Random Thoughts on Living with Kennedy’s Disease

Kennedy's Disease is frightening in many ways because it is a relatively rare (unknown) disorder. I am often asked what a person can do to minimize the symptoms of Kennedy's Disease.  Is there some magic potion or elixir? If I do (or not do) something, will that help? Since there is no treatment or cure, there is nothing a person can do to slow the progression. However, that does not mean that we cannot minimize the impact of the disease on our lives.

Below are just some random thoughts on ways to help us "live with Kennedy's Disease." Some thoughts are condensed from other posts, while others are new.

Find a Qualified Neurologist:   There are not a lot of neurologists who are familiar with Kennedy's Disease.  If your neurologist is not familiar with the disease, the Kennedy's Disease Association can possibly help locate a doctor in your area.  We have on our website a list of doctors that have been recommended to us by our associates.  If this does not help, let us know and we will contact our Scientific Review Board for additional recommendations.

Exercise:  This is important because it stimulates the muscle neurons and fires the muscle cells.  Over-exercising, however, can be as detrimental as no exercise.  The key is to listen to your body.  I invite you to read my blog on exercising.
In the second part, there is a link to my "Smart Exercise Guide."  

If the person with the defective gene is still not experiencing many symptoms and remains mobile, these exercises can be tweaked by adding light weights and increasing the number of reps.  Whether you use my exercise guide, or some other exercises recommended by a qualified physical therapist (someone that knows the disease), is not important.  What is important is the regular use of a non-taxing program.  Another important benefit of having a regular exercise program is that it also improves your general health. 

General Health:  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. It is better to play it safe and discuss anything unusual with your doctor. The key is to have a good open relationship with your neurologist and GP. Sharing general health issues and questions with both doctors will ensure that no medical condition is overlooked or misdiagnosed.

Cramping and Choking:  Early on, severe cramping is a problem.  It is painful and often occurs in the middle of the night.  Your neurologist might be able to prescribe something (i.e., quinine) to help with the cramping, but I found that an occasional ibuprofen worked best for me. 

Frequent choking often occurs as the person ages.  Chewing foods longer, not trying to talk while eating, and not gulping liquids will all help.  I have also found that daily throat exercises have helped minimize choking.

Laryngospasm:  Something a little more frightening the first few times it happens is called Laryngospasm (we fondly refer to as "dry drowning"). It is a spasm in the throat that often occurs without warning in the middle of the night.  A person wakes up gasping for air. The feeling is as if you have phlegm going down the wrong pipe and you are not able to clear it.   It is frightening the first few times, but once you know what is happening and that you are not going to die, the process is a little easier to get through.  The best way to ease the recovery process is to remember that the more you gasp for air, the worse the situation becomes.  Try to relax and breathe slowly.

Frustrations:  I use this term to categorize an emotional issue that takes place as the disease progresses.  It is easy to become down (frustrated, irritated, angry) with your body's inability to perform basic functions.  It is even more frustrating when you are trying to hide your symptoms from your co-workers, family and friends.  I was a person who told "little white lies" to mask my increasing inabilities.  These injuries and white lies further increased my frustration.  Become knowledgeable about the disease, develop a support system (family, friends, the KDA), and be open (without being burdensome) about your current capabilities.

Safety Falls become a way of life as the disease progresses.  Awareness of your surroundings and focusing on what you are doing are important to your general safety.  In an age where multi-tasking is a way of life, awareness and focus are our guardian angels.  Knowing your limitations is something else that is important.  Most of my injuries occurred when I was not paying attention or tried to do something that was not physically possible in my current condition.  Knowing when to begin using a cane, walker, or other mobility device is important.  Read my blog posts on this process.

Quality of Life:  I believe the key to successfully living with Kennedy's Disease is not to let the mental and emotional aspects of the disease become a barrier to living (enjoying) life to the fullest.  My wife and I came to the realization that we had better do whatever we needed to do while I was still capable, so we did not have regrets later on in life. We live a life where we plan for the future, but enjoy today.  I truly believe that if you are sixty or seventy years old and start saying, "I wish I would have," then you let the disease manage you rather than you managed the disease.

As the disease progresses, I would also encourage you to explore other interests and experiences.  For example, I took up bird watching and I love it.  And remember, the world is no longer off limits to the physically challenged. There are plenty of opportunities today to explore, discover, and enjoy life.