Monday, August 31, 2009


The dictionary defines "inadequate" (an adjective) as:
- Lacking the requisite necessary qualities or resources to meet a task
- Not sufficient to meet a need
Similar words include deficient, incapable, and incompetent. (I believe you get the idea)

Inadequate is how I feel when something needs to be done around the house these days. Unfortunately, most everything that needs to be repaired requires someone else to do it. It 'smarts' every time something breaks or needs repair and my wife comments that she wished our nephew lived a little closer (our nephew is the handyman of the family). I also realize it is just my ego being bruised, but it still bugs me. For years, I would 'try' to perform the repair, and several times, I ended up hurt or could have been hurt because my ego blocked all common sense.

Until recently, I never felt that I needed someone to change an overhead light bulb for me. I wonder how many light bulb jokes I have heard through the years (e.g., how many lawyers, doctors, or blonds does it take to change a light bulb?). Changing the light bulb, however, is not the problem in my case. It is using a ladder that is out of the question.

One of 'those' stories where I attempted something I should not have happened while we still lived in Pennsylvania. A raccoon broke the wire between two trees that held a bird feeder in the backyard. Not wanting to bother my wife, I grabbed the twenty-five foot extension ladder from the garage, walked to the back of the yard, leaned it up against the big oak tree, and extended the ladder another six feet up the tree. For some reason I believed that because I could still climb steps with the help of handrails, I should be able to climb a ladder.

After securing the wire to my belt loop, I climbed to the first rung without a problem. The second rung, however, was a little more difficult and should have been a sign. By the third rung, my thighs just would not pull me up. So, figuring that I only needed to go up another five or six rungs, I pushed my butt out (away) from the ladder and used my thighs to push out as much as up as I worked my way up several more rungs. My feet were probably eight to ten feet off the ground by now, I was sweating, and my leg muscles were shaking as much as the ladder. Did that deter me? No way, I figured that if I went up one more rung, I could do the job. Since my center of gravity was no longer against the ladder, all of a sudden I sensed that I was going airborne. I reached for a branch (and missed) as the ladder lifted itself away from the tree and I began to sail backwards in a slow downward arch. It is a strange and in some ways a terrifying feeling sailing through the air knowing that you are going to hit the ground hard.

If this had happened in my younger years, I would have just jumped off the ladder and rolled. In this case, however, there was no jumping involved. I just hung on for dear life and wondered if any of the neighbors were watching as I plummeted towards the earth. I find it strange that in almost every fall or accident I have had like this, I am more worried about whether someone is watching than if I am going to be hurt.

Anyway, back to the story. I ride the ladder to the ground (once again proving Newton was right about gravity). WHOMP!  I land on my back still holding onto the ladder. After I catch my breath, I begin to test all of my limbs. When I realized nothing was broken, I extricated myself from the ladder, picked myself up, brushed myself off, and then looked sheepishly to the left and right making certain no one saw my latest aerial stunt.

Realizing that I just got off lucky again, I looked up towards the sky and gave a short prayer of thanks (probably the sixteenth that week). Then I picked up the ladder and took it back to the garage. Once inside the house, I casually mentioned to my wife that "we need" (she loves the word 'we' because it means 'she') to fix the bird feeder sometime today.

Inadequate … did I mention that similar words include "deficient, incapable, and incompetent?"

Saturday, August 29, 2009

Kennedy’s Disease … Unmasked

What is Kennedy's Disease a.k.a. Spinal Bulbar Muscular Atrophy?

For several years, I have struggled to find an easy to understand explanation of what Kennedy's Disease is and how it works. Recently, I asked one of our doctors on the Scientific Review Board to help me better describe (easy to understand) the defect in our DNA and what it means to us. His explanation follows:
  • The androgen receptor is important for our body's response to male hormones, such as testosterone and dihyodrotesteoserone. The receptor is like a baseball glove, and normally catches (I believe it is called "binds") androgens and then moves them to the nucleus, which is the main control center for the cell. There it helps control the things that make us men (like the genes for watching TV, pizza eating, and lounging in our favorite chairs). In Kennedy disease, it is as if the lacing has come out of our baseball glove, and the androgen receptor is not working right. The glove does not have the right shape (it is misfolded), and that makes it hard to catch the baseball well. The androgen receptor can still move to the nucleus, but because it is misfolded, this causes problems. The cell does not work right and eventually might die. And, since this androgen receptor is made by both motor nerve cells and muscle cells, this causes us big problems with moving our arms and legs, and swallowing.

Now for a more scientific explanation, a friend who is a college professor provided the following:
  • In Kennedy's Disease, the defective gene is in the "X" chromosome. The symptoms of Kennedy's Disease are due to a mutation in the gene that produces the androgen receptor (AR) protein. The AR protein acts to mediate all the effects of androgens (testosterone and dihydrotestosterone - male hormones) in cells and in our bodies. Those individuals with Kennedy's Disease produce an altered form of the AR protein, a form that, while it still works well enough mediating the effects of androgens (and so males are still male), produces an additional effect of causing certain spinal cord and brain cells to die. The affected nerve cells are primarily those that control the activation of muscle cells. When the nerve cells die, the muscle fibers that they control shrink and become inactive causing the muscle weakness characteristic of Kennedy's Disease.

    Research suggests that the altered form of the AR has problems being recycled (cleaned of all garbage) in the presence of androgens and instead of being completely removed; mutant proteins (the garbage) are only partially digested in the affected cells. This partial digestion of the AR results in the production of AR fragments that, through an unknown mechanism, are toxic to cells. Since this effect is dependent on relatively high levels of androgens, severe muscle weakening is generally not seen in women who carry the mutant form of the AR gene.

Okay, now that I have read both explanations, I feel a little more comfortable. However, I still do not believe I have accomplished what I set out to do today (and that was to simplify the explanation). So, I asked "Joe, the Plumber" and he explained the defect like this: The thingamajig is broken and that causes the whatchamacallits not to work properly.

Thursday, August 27, 2009

Kids and Critters

Occasionally, I need to break the mold and talk about things that bring me joy. Today's post is one of those times.

Two of my joys in life are young children and our pets. Kids do not care anything about a person being 'handicapped'. They just know that you have a special chair on wheels with a joystick that can spin in circles and stop on a dime. All kids understand that a joystick is for playing games. I believe it is something in their genes. It seems like all kids from ages two and up to about eight want a ride on my special chair and love the games I can play with them. Their laughter is contagious. I remember being in the church parking lot after a wedding giving rides to Anna Leigh and Mitchell. We played several games while their parents visited and said their goodbyes. The next time they saw me; they ran up and immediately wanted another ride. It is good medicine for them and especially for me.

Our critters do not recognize that I am handicapped either. All three were strays that showed up on our doorstep. They all had a tough life and are making up for it today. My beagle, Fred, just wants me to get off my butt and take him for at least four walks a day. He actually walks and I drive the golf cart. We go down the hill and halfway around the lake before we do a 180. He then checks out the other side of the road and woods for new smells. Marking territory is an exact science for beagles and Fred does not want to miss a spot, tree or mailbox. The entire adventure takes about half an hour and I enjoy every minute of it. I am an avid birdwatcher. Having a forest, meadow and lake as part of our cruising territory during our walk gives me plenty of time to check out the many varieties of birds as well as other wildlife including the beavers, otters, turkey, and deer. There is never a boring trip when walking Fred.

Our two cats are also good for me. They let me know every hour of every day that I am not the center of attention in our household. They are the Lord and Lady of this domain and rule with raspy tongues and sharp claws. If I am not focused on them and their needs, they let me know immediately. For example, I have a high-back office chair that rotates and reclines. It is very comfortable. Willy, our older cat, decided several years ago that the chair is his. It is only available when he is not napping. If he is ready for a nap, he comes into the office, stands directly in front of me, and stares me down. If I do not pay him any attention, he jumps up on the desk and sits down on the keyboard. About then I get the idea and give him back his chair (check and mate). Fortunately, he only naps about ten hours a day.

Lucy, on the other hand, feels that when it is time to eat, be rubbed down, or scratched, I need to stop whatever I am doing and give her the appropriate attention she deserves. When she is through, she just walks away (without even so much as a thank you) and does not want anything to do with me until the next time she desires something. No matter where I am or what I am doing, until her needs are met there is no peace. And, since Willy has taken ownership of my office chair, Lucy, not to be outdone, has taken ownership of my wheelchair.

Is nothing sacred in this house?

Tuesday, August 25, 2009

Not Every Health Issue is Related to Kennedy’s Disease

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.

Examples: A man constantly complained about chest pain and related it to Kennedy's Disease, but later found out he had a heart condition. Another man continually had neck pain and related it to Kennedy's Disease. He finally discussed it with his doctor and after some testing found out it was a pinched nerve.

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.

Monday, August 24, 2009


One of the more common comments/questions I hear from others that are living with Kennedy’s Disease has to do with depression. Often it is the spouse/caregiver that is asking the question or commenting on the mental state of the person they are taking care of. They hate to see the person go through this and want to know what they can do about it or just want to express their concern to someone.

Personally, I believe that everyone with Kennedy's Disease has had one or more bouts of depression. Some are able to work their way through it more easily than others, but it continues to be a major issue for the man as well as the caregiver. I do not believe drugs (medications) are the answer even though for some it might be a necessary step when prescribed by a qualified psychologist or psychiatrist.

I have often said that the mental and emotional aspects of Kennedy's Disease are as difficult, or perhaps even more difficult, to handle as the physical ones. Frustration over not being able to perform a simple task is something that I still have to live with. I believe strongly that most everyone with KD has to go through some sort of "Nine Stages" (see my earlier post on this subject). Acceptance of the health issue does not mean surrendering to it. Feeling overwhelmed is something most of us have experienced. I know most caregivers feel that way at times ... men with KD are not always the easiest to live with (did I say that?).

My daily exercise program is pretty important to me. It helps to have those endorphins rushing through the body for an hour or so each day. It is my drug of choice. My four half-hour walks a day around the lake with my beagle (he walks and I ride in my golf cart) are also important to me. These trips help clear the head. I also feel that the Kennedy’s Disease Association (KDA) chat room is especially helpful when feeling a little down. Knowing that I am not alone in this world is often all I need. Children (especially grandchildren) can also work wonders when you are feeling a little down. They have a way of making you laugh until you cry.

What is important is that you find an outlet ... a way to clear the mind of those negative thoughts. What works for you?

Saturday, August 22, 2009

The Nine Stages ... Learning to live with Kennedy's Disease

Several years ago I wrote a fictitious short story based upon some of my experiences of accepting Kennedy’s Disease. The premise of the story was founded around "The Nine Stages of Grieving" published by the University of Buffalo, but slightly changed to reflect the experience of finding out you have Kennedy’s Disease. I feel that whether it is death or some life-altering event, everyone (yourself and your family) going through the event has to experience most, if not all, of the stages mentioned below.

At first, it may be difficult for you to accept your own condition. As a result, you will deny the reality of the disease and make excuses for your falls and occasional fatigue.

Once you are convinced that you have the disease, a period of shock (reality) sets in. You keep your thoughts to yourself, but find it hard to think of anything else. When asked what is wrong, you just don’t want to talk about it to anyone.

The most common question asked during this stage is, "Why me?" You are angry at what you perceive to be the unfairness of the situation and you may project and displace your anger onto others. This is always a frustrating stage for the rest of the family because it follows the period when you were not talking.

At some point, you will attempt to bargain with some sort of deity. You will probably offer to give up an enjoyable part of your life in exchange for the return of your health. The family notices a remarkable change in your attitude and can’t quite figure out what happened.

You may find yourself feeling guilty for many things you did, or didn’t do, prior to, or because of your disease. Or, you might feel guilty for all the emotional pain and financial stress you are and will be causing your family. You often apologize for things no one else in the family remembers happening. And, if you have a daughter, the question constantly nags at you as to whether you passed the defective gene on to your daughter.

You may at first experience a sense of great loss. Mood fluctuations and feelings of isolation and withdrawal may follow. Encouragement and reassurance by others will not be helpful in this stage. The family becomes very concerned and the spouse will normally try to reach out to others in an attempt to help.

As you go through changes in your social and business life because of your disease, you may feel lonely, isolated, and afraid. You would rather not do anything but sit around and watch TV or sleep.

Acceptance does not mean happiness or bring comfort. Instead, you are now able to accept and deal with the reality of the situation. Life can once again begin to move forward. You find that you can easily admit to yourself and others that you have the disease and that there is no cure, but also saying things like, “It’s okay … I can live with this.”

Eventually, you will become mentally and emotionally comfortable with your disease. As the thought of it becomes less painful, you can begin to look ahead to the future and realize that there is life after Kennedy's Disease. You begin to embrace those special moments in life with family and friends.

The ending of my story follows:

"As with most everything in life, time heals most wounds. Many of my initial fears of being helpless didn’t materialize. Instead, I learned that if I use my head, I could still do many things. I also found that people were very accommodating and would go out of their way to help. Instead of being considered a burden, I was still valued as a husband, father, friend, neighbor, and business associate.  And, I found that I still had something to contribute to the world.

With acceptance, and armed with the additional knowledge that researchers were working diligently towards finding a treatment and potentially a cure, I discovered something that had been missing recently in my life – Hope."

Faith ... hope … whatever you want to call it; I just know it is important and a critical part of moving forward with our lives.

Thursday, August 20, 2009

Mobility Devices - Part II

Yesterday I discussed my progression into the world of mobility aids. Through the process, I learned several things that I wanted to share with you.

  • Don’t wait until you are injured to consider a mobility aid (cane, walker, scooter, or wheelchair). Your life does not have to come to a stop and can still be enjoyed with the right mobility equipment.
  • Don’t just consider your current needs. Also take into consideration your future needs (what you might need within the next five years, for example). Then, look at what you have recently given up because of your safety concerns. Are there devices or options that will allow you to once again safely enjoy life a little more fully. For example, if you can no longer stand for long, would a chair that has a seat that rises up be helpful so that everyone does not have to look down while talking with you? Do you need a chair that can climb a curb, stairs, or be capable of cruising through the woods? Almost everything is available today, but it comes with a price.
  • Don’t be too frugal (or in my case cheap). You are talking about your safety, lifestyle, and future mobility. A few extra bucks spent upfront could make all the difference in the world to your safety and happiness.
  • Do ask for advice from others regarding potential needs, options, makes, models, etc.
  • Do consult with a physical and occupational therapist. For scooters and wheelchairs, we are talking a major investment (even if the insurance company pays for most of it). For canes and walkers, therapists know how to adjust them correctly and what you should be considering. Their expertise could be very beneficial as well as save you some grief down the road.
  • Do shop around. The internet is an excellent place to check on prices, options, models, and suppliers, but it is not the only place. Visit a show room and ‘test drive’ the models you are considering.
  • Don’t just consider cost. Warning: Cost is not the only factor when purchasing a scooter or wheelchair. In my opinion, ‘service’ is far more important. No matter how good a deal you get, if you are stranded somewhere, it is no fun. Ask for recommendations from other users. If you do decide to buy online or from some out-of-area supplier, have a local repair facility lined up. Talk with them ahead of time and make certain they can service your vehicle (warranty and regular service).
  • Don’t be afraid to negotiate. As mentioned, a scooter or wheelchair is a major investment. If you have done your research, shopped around, and considered all of your options, you will know what the best deal is.

I hope these two posts on mobility equipment provide ‘food for thought’. If you have other suggestions or questions, please do not hesitate to comment below.

Wednesday, August 19, 2009

Mobility Devices - Do You See Any Patterns Forming Here? Part I

Kennedy’s Disease is a progressive neurological disorder. Fortunately, there are tools to progressively provide greater support and mobility when you need it. Unfortunately, if your ego is anything like mine, it gets in the way of your timing, purchase and use of these tools.

Cane: For example, I should have started using a cane way before I did. If I would have, there would have far less falls, and a few less injuries. Using a good quality cane would have been an easy transition; yet, my ego would not let me use one. It took a broken fibula to force me to finally try using one. Once I started, I loved it because it provided me with greater confidence and more support.

Tip: The cane should be adjusted to the proper height so that your forearm is bent at a 25-30 degree angle when the cane is parallel with your leg (straight down your side). The cane should have a grip that is easy to hold on to and an end-tip that does not slip. For better balance while walking, look straight ahead (not down).

Walker: A walker should have been another easy transition, but … my darn ego got in the way again. I could not picture myself using a walker under any circumstances. It took another serious injury before I progressed to using one. I also found that I didn’t need the walker all of the time, but it sure was a useful tool when I needed it.

Tip: The walker height should be set so that your posture is upright and your forearms are bent at a 25-30 degree angle when grasping the walker. The walker is meant for balance, not for holding up your weight. For better balance while walking, look straight ahead (not down). Tennis balls placed on the end tips help improve traction on slippery surfaces.

Scooter: On the other hand, a scooter was far easier for me to accept. Even though a wheelchair would have been a smarter purchase at the time, I could not envision myself in a wheelchair. Somehow, however, I could see myself using the Evil Knievel endorsed four-wheel scooter. I figured anybody that could jump over twenty school buses or attempt to jump across the Snake River in a rocket-sled must know something about scooters. I wanted something that would allow me to go with my wife when she went for walks. I needed a scooter that would take me back into the wilds of southern Pennsylvania.

Unfortunately, I did not use my head and spend a few more bucks for a model that would be more versatile and allow me to go into the woods without getting consistently stuck. Now that would have been a worthwhile investment. I also learned quickly that a scooter does not have the maneuverability of a wheelchair and is much more difficult to transport. My Evil Knievel special did not allow me to jump anything … not even a small branch in the path. Bummer!

Wheelchair: It took a broken tibia and fibula before I finally progressed to a power wheelchair. This was a good investment and well worthwhile. We also bought a platform lift (another good investment) that allows the wheelchair to be lifted into the van and actually charged while in transit. The wheelchair allowed me to go for walks with my wife and attend community events (both inside and outside) without the fear of falling or becoming too fatigued. I no longer slowed down the other walkers and normally they wear down before my battery does. Being able to travel 25-30 miles on a charge and cruise around at 5-6 mph works well for almost any situation. Once again, however, I missed the boat. Even though it has opened many doors (opportunities) for me, a little more research and a few more bucks invested up front would have really made a difference.

By now you should see the pattern (waited too long, didn't consider my needs, and was too cheap). In my next post I will provide some thoughts about what to do and not to do concerning these mobility aids. Until then, stay upright and safe.

Tuesday, August 18, 2009


I am blessed in so many ways. One blessing that needs to be shared concerns our neighbors and friends.

When I broke my tibia and fibula a couple of years ago, I was housebound for three months. For someone that had been fairly active and was always out visiting people, this was like prison to me … and also not very pleasant for my wonderful wife.

During my healing process, one of our neighbors came up with the idea that once a week a different neighbor should prepare a dinner for us. What made it special was that they not only made us dinner, they would eat with us. This was a wonderful idea that allowed me to interact with neighbors and friends as we enjoyed breaking bread together. It also allowed me catch up on all the latest news. I called the program “meals-on-wheels’ because whoever was cooking that week would drive up around 6:00 or so in the evening and unload their car. It was quite the event and even though I was happy to finally have the cast removed, I miss the weekly dinners. We still occasionally have someone over, or go out, for dinner, but it is not quite the same as the weekly dinner at our house.

Even though the weekly dinners have ended, I still have a few neighbors that know how much I like to eat. Susie, for example, often calls and asks if I would be interested in dinner. Her meals are wonderful … often better than many restaurants’ meals. She will prepare things like Thousand Dollar Chicken and Cornish Game Hen with all the trimmings. She also knows what my favorites are. Her meatloaf is wonderful, her taco soup and Brunswick stew are great, and she grills a mean burger. Besides the main course, she also prepares a great salad and a very tasty dessert. My favorite is her cheesecake. I have eaten cheesecake in many restaurants, but none have ever been better than hers. I am drooling just thinking about it. And, what makes it that much more special is that ‘she delivers’.

I can also count on a couple of other neighbors for home baked desserts and the occasional leftovers (did I mention I love leftovers). It seems that everyone knows that I am deprived and wants to help me out.

Sunday, August 16, 2009

Caregivers put up with so much crap!

I cannot say enough about how wonderful my wife is. She is thoughtful, caring, supportive, understanding. and always there for me.

When my ego was greater than my physical capabilities, she paid the price by nursing me back to health. Whenever I had a serious injury, my wife was the one that had to change her life to accommodate my needs. She has given up so much to care for me.

Besides the sacrifices she makes for me, she also has to put up with my stubbornness, frustrations, and ill-temper. Yes, for those who know me; I know it is hard to believe that I could be any of these things. It is not her fault that I can no longer do certain things. It is not her fault that I am a little impatient (just a little). Yet, she is the one that has to listen to my outbursts of anger and complaints when I become frustrated. I swear that no one, but someone who really loves me, would put up with all my crap. My apologies and thankfulness seems to be a rather feeble attempt to acknowledge all that she puts up with and sacrifices for me. You would think I would learn to tone it down just a little!

Anyway, I cannot say enough about how wonder my caregiver is. She should be nominated for sainthood.

Saturday, August 15, 2009

A New Exercise Program Has Really Helped – Part II

In yesterday’s post, I discussed why I feel exercise is important to those of us living with Kennedy’s Disease. In today’s post, I thought I would discuss the program in more detail.

Since I have lost a lot of confidence in my muscles’ ability to hold me upright, I tend to not stand totally erect. To counteract this tendency, I was asked to stand facing a wall or counter (in case I need support) and without holding on to anything ‘stand at attention’ with my butt and stomach pulled in, chest out, shoulders back, and chin up. Once comfortable with the position, I close my eyes and continue to focus on just standing straight. It is amazing all of the muscles that I use with this exercise. I can feel them firing all over the body. Then, I open my eyes and begin to move (sway) my hips and upper body left then right to put more weight on one leg and then the other. All of the muscles previously used are now being worked plus a few dozen more. One area that is particularly weak is the toes. They can no longer hold my weight if I lean forward. This exercise really helps in focusing attention on the toes and using them to keep my upright. I highly recommend it.
After I finish with the hip sways, I immediately go into my stepping in place. I lift the left leg as high as possible and count to ten. Then I switch to the right leg. I perform sixty steps. When I first started this exercise, I was having trouble performing twenty.

Another important exercise is standing up from a chair. It is amazing how many muscles are needed to perform that simple function. The chair push-up exercise is very good for working the arms, shoulders, back, and quads.

I never finish a workout without working my neck and throat muscles as well as my fingers, hands and wrists. They are often the most neglected and need constant work to remain strong and viable.

One of the "secrets" imparted to me is that when I exercise I need to improve my visualization of the actual working of the muscles. That involves focusing the brain on contracting and releasing the muscles I am working. Initially I could not feel anything, but the more I focus the better I can feel the muscles working.
As you can tell, I am pumped! It has been nine months since I started the program. Initially, most of the exercises were somewhat difficult. Fortunately, I have progressed to a point that I exercise for an hour every other day. On the ‘off days’ I have a short program that I do for about fifteen minutes. I am now using light weights and performing multiple reps with each exercise. I am definitely stronger and more confident.

I felt that if the program worked this well for me, it might help others so I published an updated ‘Smart Exercise Guide’. This guide is for beginners and can be ‘tweaked’ as capabilities improve. The guide (PDF) can be found by following this link: "Smart Exercise Guide". If you decide to exercise, remember to take it easy when starting out. You are not trying to rebuild muscles that have been declining in strength for several years in a few days. Work into the program gradually. It is better to have a daily (or every other day) routine than a once a week (or month) program. And, most importantly, “Enjoy!

Once again, repeat after me, “Exercise is good. Being a couch potato is bad.”

Friday, August 14, 2009

A New Exercise Program Has Really Helped – Part I

Last winter a Physical Therapist (PT) came out to the house to evaluate my current capabilities and exercise program. Fortunately, the lady was familiar with Kennedy's Disease, so I didn't have to provide a lot of background. She was very impressed with my current exercise program, but had several improvements/modifications that I have been using and they have really helped improve my strength and balance.

I become excited when something comes along that can significantly make a difference and these changes and additions to my program have done just that. Through the years, I found that I have compensated for many of my inabilities ... in other words taken the easy road. The PT challenged me to not always take the easy way and focus on not just maintaining, but also improving my capabilities and self confidence. Fortunately, I enjoy exercising and have much of my adult life.

Several neurologists confirm that light and (I will use the term)‘smart’ exercising is good for your muscles and motor neurons because it stimulates them and keeps them functioning longer. Another benefit of exercise and stretching is that it can cause ‘cell inhibition. Cell inhibition happens when an activity just started, such as an exercise (or a back scratch or massage), temporarily blocks an unpleasant sensation like a chronic pain. The nerve transmits the pain signal to a cell in the spinal cord which is inhibited by the new "traffic" caused by the new stimulus. It is why pinching the cheek blocks the pain from the anesthesia needle in dentistry.

However, for those of us living with Kennedy's Disease, any type of activity that overly taxes your muscles could be detrimental to your condition. The key is to just do what the body feels comfortable doing. Never exceed your capabilities. The goal is to stimulate the healthy muscles and motor neurons without doing any harm to them. Before starting, I recommend discussing the potential benefits and risks of any exercise program with your neurologist and general practitioner.

For me, one of the big differences I have seen in this new program is my ability to stand up without having to immediately grab for something to maintain my balance. Another is the new-found confidence in standing for longer periods of time using my own muscles, or even turning, without having to lean on a cane, walker, counter top, or wall. My arm, shoulder, and neck strength has also improved substantially. No, I am not Mr. Universe or someone with washboard abs. I am, however, someone much more confident with my current capabilities.

Tomorrow, I will discuss my new exercise program a little more and provide a link to the ‘guide’ that I developed with the help of my physical therapist. Until then, repeat after me, “Exercise is good. Being a couch potato is bad.”

Thursday, August 13, 2009

Another ray of hope on the research front

Many of us associated with the Kennedy’s Disease Association (KDA) realize the importance of research. Because Kennedy’s Disease is a ‘rare’ disorder (only 1 in 40,000 have the defect), it does not receive the attention or the necessary funding needed to entice many labs across the world to focus their research on finding a treatment. We are a very small fish in a large ocean.

Fortunately, we do have a small group of dedicated researchers who work tirelessly towards that goal. Some of the labs in the United States that have Kennedy’s Disease research facilities are: National Institute of Health, Thomas Jefferson University, St. Jude Children’s Research Hospital, University of Michigan, Michigan State University, and the University of Washington.

About once or twice a year, one of these labs strikes gold and publishes a paper concerning their current research. In January of 2008, the KDA awarded a research grant to Maria Pennuto, Ph.D., from the National Institute of Health. Her research into the potential benefits of insulin-like growth factor -1 (IGF-1) looked promising at the time. Maria and her colleagues have just published the findings of their research. You can read more about it by following this link:

Here is a quote from the article:Importantly, augmentation of IGF-1/Akt signaling also improved motor performance, body weight, and muscle and spinal cord pathology, and extended survival in the SBMA mice. "Our study establishes IGF-1/Akt-mediated inactivation of mutant AR as a strategy to counteract disease in living animals and is the first to demonstrate that skeletal muscle is a viable target tissue for therapeutic intervention in SBMA," concludes Dr. Pennuto.

I realize it is ‘Greek’ to most of us, but in talking with a few other researchers, this appears to be another step forward and opens doors for additional research and possibly a clinical trial. Even though the KDA is a small organization, often we have provided the 'seed money' to allow promising research to continue until other funding becomes available.

For those of us who have met Maria, Isabella, and several other young researchers working to find a treatment for KD, we understand how fortunate we are that another generation has picked up the baton and continues to move towards the finish line (finding a treatment or cure). As long as someone is carrying the baton, we have hope.

Wednesday, August 12, 2009

Muscle Memory

Several years ago I read an article about how motor neurons and muscles in athletes develop some type of coordinated synergy so the actual physical movements involved in running, playing tennis or football, for example, are almost automatic (instinctual) … not requiring any forethought. I have known that feeling and it was a wonderful experience. Unfortunately, I haven’t experienced that sensation for over twenty-five years and I miss it.
Today, I have no self-confidence in my muscles being able to support me or react in time to prevent a fall. When the leg muscles are fatigued, for example, they might give out at any time and I could drop to the floor without having a chance to catch myself. Today, I have to focus on locking the knees while standing or pushing off with the leg and arm muscles when trying to stand up from a seated position. It is now a coordinated effort between the brain and the muscles. Any deviation from focusing on the current activity could result in a fall. I can no longer be walking and have other thoughts running through my mind distracting me. If that happens, I am an accident waiting to happen. I believe the statement about being able to 'walk and chew gum at the same time' is appropriate.

Tuesday, August 11, 2009

Can I trade this body in for a newer, more efficient model?

Over the last ten years, the disease has also taken its toll on my face and throat muscles ... those muscles controlled by the bulbar region of the brain. Initially, I started choking while I was sleeping. In the middle of the night, I woke up gasping for air and could not clear my air passageway ... a condition called ‘dry drowning’ or Laryngospasm. Talk about something frightening for my wife and myself. Fortunately, knowing the symptoms and not panicking goes a long way in helping to wait-out the spasm. It is never easy to not try to gasp for air when you believe you are suffocating, but that is the worst thing you can do. With training, you learn to relax (not panic), tilt your head backwards, and try to breathe in slowly. Another way it was explained was that if you cannot catch your breath, you will pass out. Once you pass out, your throat muscles relax (the spasm is over) and you will begin to breathe normally. Fortunately, I have never had to test the last method to see if it works.

A few years later I found it more difficult to swallow certain foods. If I am not continually thinking about chewing food well and swallowing, the food can become lodged in my throat. If I had only listened to my mother when she told me to never talk with my mouth full, this practice would be a lot easier.

Also, in recent years my jaw muscles have weakened to a point where they cannot always hold the lower jaw in place. If I eat a bagel, for example, the pressure caused by chewing on something hard forces the lower jaw to pop out of joint. The initial pain is bearable, but for a day or two I have to eat with my hand pushing on the lower jaw to keep it in the socket. Occasionally during the night the lower jaw will just fall out of its socket. Meanwhile, the facial muscles continue to weaken and collapse.

Over the years, I have fell dozens of times. Almost all of my falls in the earlier years were forward as if I stumbled. Fortunately, only a couple of those falls results in a serious injury. About six years ago, however, I was stepping into the house from the garage when my knees collapsed and I fell backwards. I cracked my head on the concrete floor and went out like a light. I suffered a concussion and had some bleeding on the brain. Fortunately, the only long-term damage was the partial loss of my sense of smell.

Then two years ago, my left knee buckled twice in three months. Both times I went straight down with all my weight collapsing on the left knee joint and lower leg. The first fall fractured the left fibula and ankle. Within a few weeks of receiving a clean bill of health, my left knee buckled again. This time the left fibula and tibia, the weight-bearing bone, were fractured. The doctor told me I could not place any weight on my left leg for three months. For a person with normal leg strength, the healing process would be difficult. For someone with Kennedy’s Disease, whose leg strength is not half of what it should be, the three months of inactivity was an eternity. I have never had a worse experience. Not only was it difficult for me, it was even more difficult for my wife. She had to be there for me all day every day. The only time I could leave the house during that time was in a para-transit vehicle specifically designed for a wheelchair. During one of my several doctor visits, he showed me the x-ray of my left leg and foot. My bones looked like Swiss cheese. He said I had severe osteoporosis and another fall could crush the bones. I made the decision that day to begin using a wheelchair as my main mode of transportation. It was a difficult decision, but I could not put my wife through another six months of hell like this again.

Pain ... what can anyone really say about pain? What is pain to one person is only an ache to another. I had to learn early on to live with the aches and pains associated with the disease. When I was in my twenties and thirties, I experienced severe muscle cramps in both legs. Many nights I woke up with a painful cramp and had to massage the muscle until the pain subsided. In the forties, the severe cramping miraculously disappeared. However, it was replaced with deep muscle aches. This usually happened when I exceeded my physical limitations for the day. At the same time, I begin to experience extreme fatigue. It often took a day or two to recover from most strenuous activities. I am learning to live with muscle aches and occasional minor cramping. It is almost as if I can feel the muscles dying. Fortunately, I must have inherited my father’s tolerance for pain because I can normally live with the nagging aches and pains. Occasionally, when the pain is too intense and I cannot sleep, I have to take an Ibuprofen.

Along with the aches and pain, my body now reacts negatively to cold temperatures. Anytime the temperature is below 50 degrees, I begin to lose the use of my hands. Sometimes even gloves do not help. My legs and feet are also constantly cold and do not always function properly. I wear insulated underwear, thermal socks, and gloves from November through March. Occasionally, I have to wear gloves in the house just so my hands can function better. I have also lost most of the feeling in my feet and some of the feeling in my hands. I do not always notice hot and cold or cuts and scrapes right away. I have burned my fingers several times and didn’t even know it until I saw the blisters.

Are bodies that are no longer efficient included in the ‘cash for clunkers’ program?

Sunday, August 9, 2009

Now I am my brother ...

It doesn’t seem like that many years ago when my brother came home from Germany. He was just discharged from the Army. I could not believe how physically fit he was. He had some guns (biceps) and there was not any fat on his torso. One day he was telling me how he made extra money while stationed in Germany. He said he would take bets on how many one-handed push-ups he could do. These were full push-ups where he had to touch his chin to the floor. I asked him how many he could do and he said he would rather show me. I could not believe it when he knocked out one hundred one-handed push-ups.

Now segue forward twenty-five years or so. When I came home for a visit, my brother came over to play some cards. I noticed he was having difficulty standing up from the chair. He also had some hand tremors (mild shaking) and I noticed his voice sounded nasally. It also seemed like he was always clearing his throat. I was too embarrassed to ask what was going on and he didn’t bother to tell me.

About ten years later during another visit I noticed that this time my brother was riding an electric scooter. He could not walk the half a block from his house to our mother’s house. Before he sat down, he put several pillows on the chair. I asked what the pillows were for and he explained that it elevated him enough so that he could stand up from the chair without anyone’s help. He choked a couple of times on the coffee and seemed to have a difficult time swallowing the cookies. He couldn’t quite extend his arm out straight when playing a card and had to almost raise it up above his shoulder before extending it out. The right side of his lip sagged constantly. The short-sleeve shirt showed loose skin where the huge biceps and triceps once had been. When he tried to stand up, he pushed down on the top of the table with both arms and almost fell forward before righting himself. The difference in this visit was that I now knew what my brother had because I was beginning to have similar symptoms.

I had recently seen a neurologist for difficulty in walking and occasional falls. My legs just wouldn’t hold me up; especially when I was fatigued. After several tests that I would not want to go through again, the doctor referred me to the University of Pennsylvania Neurology Department. When I walked through the door into the examination room, the neurologist said almost immediately that I had Kennedy’s Disease. The doctor ran a few tests and drew some blood. When he had finished all the tests, he explained that Spinal Bulbar Muscular Atrophy (SBMA) was also known as Kennedy’s Disease. It was named after Dr. William Kennedy; the person who first diagnosed the disease at the University of Minnesota in the late 60’s. The bad news was that the disease was progressive and there was no treatment or cure.

In the weeks that followed the diagnosis, I began to understand why my brother never wanted to talk about his condition. It was something that was almost unfathomable to consider because it was happening to me. Now I am my brother …

Saturday, August 8, 2009

Okay, I admit it …

I have Kennedy’s Disease. There, I said it! Whew ... That wasn't so hard.

Kennedy's Disease is an X-linked, adult onset, progressive muscle disorder. I often refer to it as the poor man’s version of ALS. Kennedy’s Disease does not show up until later in life and it gradually erodes your strength by killing off the muscles and motor neurons in your body. Doctors classify it as rare disorder and estimate that 1-in-40,000 men have it. There is no treatment or cure for the disease. Living with the disease reminds me of the paradigm, “Is it more difficult to face life being blind from birth or to lose your sight later in life?” I realize that neither are good options, but is one worse than the other? Is it more difficult to lose something that you had or never to have experienced it in the first place? Realistically, what does it matter? You are still blind ... or, in my case, physically handicapped.

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? All I know is that I am still a “man,” but I no longer feel manly. I feel emasculated because something was stolen from me that I prize.

Kennedy’s Disease takes its toll on people mentally and emotionally as well as physically. Everyone tends to focus on the physical manifestations of the disease and not much is said about the psychological aspects of it. In some respects, the psychological aspects of the disease are far worse than the physical. As the muscle groups weaken and basic movements become more difficult, thoughts and feelings also begin to deteriorate. Acceptance is often the most difficult aspect of Kennedy’s Disease. Acceptance is a hard pill to swallow. Even more difficult is admitting to others that you have the disease. It took me years just to tell my family and friends. It took even longer to admit it to my supervisor at work and co-workers. The last thing I wanted was to be considered physically handicapped … someone that could not do his job. I did not want people looking at me as different or considering me less than a “man."

In my thirties, I occasionally tripped or stumbled when walking on uneven ground. I brushed these incidences off as me not watching were I was walking. More doubts began to surface as other symptoms began to show up. By the time I was in my mid-forties, I realized that I could no longer do certain things that I enjoyed. One such activity was hiking in the mountains with my wife. We loved being together surrounded by nature. We often hiked several times a month. Going uphill was difficult as my muscles weakened, but it was going downhill that became dangerous. My quads could no longer hold my weight. The longer I hiked, the weaker the leg muscles became. I fell many times in those years. Fortunately, my injuries were relatively minor and I always managed to get up and continue on.

Gradually, I had to give up more activities that I enjoyed. Racquetball and tennis were two sports that I was pretty good at and I enjoyed playing. Eventually, I just could not safely play either of them. Then, in my mid-fifties and after several falls and a few broken bones, I realized that even stairs were out of the question. I now needed an elevator if a customer, warehouse, or mill had offices on the second floor. A few years later, just walking with co-workers or customers became a burden because I could not keep up with them. At first, I just gave some excuse and tried to bow out gracefully ... bad knee, recovering from an injury, etc. Eventually, I had to tell the truth and just say, "I sorry, I can't do it." Every time I said, "I can't," I thought of my father telling me that "can't never could do nothing."