An Uplifting Experience

As Kennedy's Disease progresses, those of us with the mutated gene occasionally find ourselves looking up at the sky (or ceiling). I have found myself in that position far too many times. In my younger years, I just stood back up and dusted myself off. In my middle years, it took a little longer to stand up and occasionally it was nice to have someone or something nearby to help steady myself afterward. If I go down today, I need someone to lift me up to a mostly vertical position where I can get my legs underneath me and the knees locked. This takes a lot more strength on the part of the lifter.

There are also times I find myself in a lower chair and I just cannot stand up. That is because my buttock needs to be about 30-to-45 degrees higher than my knees before the quads can finish the lifting of the body. If I lean too far forward trying to raise my buttock and have nothing in front of me to brace myself on, I could lose my balance and fall forward.

Leverage is the key to any successful standing-up process. Without anything nearby to use as an assist, another person can help you safely reach the standing position. I learned a lot about this subject when I broke my fibula and tibia three years ago. Not being able to put any weight on my left leg for several months made every transfer a joint operation.

If you are in need of regular help in standing or transferring, gait-belts or transfer-belts are useful and relatively inexpensive. These belts help the caregiver gain a firm grip to help you stand up. They also reduce the strain on the caregiver's back if used properly. Gate-belts are also very useful when walking around the house. A caregiver can place one hand on the back of the belt and another under your upper arm to help you safely walk.

For me, a person can use my belt ... lifting from the back of my pants. This provides just enough support to make the difference. Any good quality leather belt (the wider the better) is easy for the caregiver to grasp and hold onto. If I am not wearing a belt, then grasping the back of my pants and lifting works well (except it gives a wedgey).

Some people that I have asked to help me stand up believe I need a strong, quick lift or pull. This usually sends me flying forward. The key for the caregiver is to let the person use his own leg strength to do most of the lifting. The caregiver is there to support and provide a slight boost in the beginning. Once up, we might still need a little support until we can get our legs underneath us and locked. My wife has this technique down. Others, however, are less comfortable with the process and usually overcompensate.

Now, if I am on the floor (or ground) after a fall, I find that I need a minute or two to get myself oriented (think through the process of how to stand up). The key is to get my feet underneath me and set before asking for help. When I am ready, it is best to have someone stand behind me and wrap his arms under my arms with his hands locked across my chest. I liken it to picking up a large sack of potatoes. Using their legs to lift, the person needs to get me to a position where I can lock my knees and regain my balance before letting go. The belt lift does not work well in this situation because your back and abdominal strength does not allow you to straighten up. The one exception is if the belt is high on your chest (under your arms).

Important: Never release the person until they have given you a verbal signal that it is okay. Releasing them too soon could result in another fall.

For more information, follow this link: How to use a gait belt .

Charles was part of His plan for me

In earlier articles, I have written about the guilt I feel for passing along the defective gene to my daughter. I did not know that I had Kennedy's Disease when she was conceived. All I knew is that we were having a baby and we could not be happier. Yet today, because I was the reason my daughter became a carrier, it still bothers me.

Today's article is a guest post by Tiffany who is a carrier of the mutated gene. She is also a young woman who wants to experience a normal life including having children. She grew up watching the affect that Kennedy's Disease had on her grandfather. Now, being a carrier, she was struggling ... wondering whether she should bring a child into the world that also might have the defective gene. This is her story and her search for an answer.

Charles was part of His plan for me

When asked to write an article about the concerns of being a Kennedy's Disease (KD) carrier, I found it difficult to write without addressing some controversial issues. What follows only begins to scratch the surface of my feelings and experiences as a carrier of Kennedy's Disease.

In the spring of 2005, I found out that I was a carrier of Kennedy's Disease. The first thing that came to mind was my future family ... what were my options? I always wanted kids; however, I grew up watching my grandfather slowly fade with Kennedy's Disease. The National Institute of Health, as well as, many organizations offer genetic counseling for those who want to learn more about your chances of having a child with Kennedy's Disease and what steps may be taken to avoid having a child with KD. The genetic counselor explained to me that one of my two "X" chromosomes has a longer repetition of CAG.

So, if the mother is a carrier like me, the following possibilities exist for her offspring:

• 25% chance that she will have a girl that will be a carrier of KD
  
• 25% chance that she will have a girl with no links to KD (healthy genes)
  
• 25% chance that she will have a boy that will have KD
  
• 25% chance that she will have a boy that will have no links to KD (healthy genes)
  

 
Given these odds, I felt heartbroken and had to do a lot of soul searching and research. Every couple that is faced with the fact that they have Kennedy's Disease in their family will have to deal with this harsh reality.

The Genetic counselor explained that being a carrier of KD is not the end of the world and that I had options. Preconception options include in vitro fertilization or IVF, egg donation, and pre-implantation genetic diagnosis or PGD. This is when doctors can test healthy eggs and select the embryos that are from the X chromosome not containing KD. These healthy eggs can then be used in the IVF process. If a woman would prefer to become pregnant naturally, there are other options available including testing a fetus to see if it has the defective gene. These include ultrasounds, chronic villus sampling (CVS), and amniocentesis. Ultrasounds can be used to determine the sex of the child eliminating the chances of the fetus developing KD. CVS and amniocentesis can determine gender, as well as, test the child for the lengthened fragment associated with KD. These tests then can be used throughout the pregnancy to examine the unborn child. Another option all together was adoption. There are support groups for parents who are faced with these different options; however, everyone will have to make their decision based upon their own beliefs and thoughts.

In the summer of 2007, I found myself in the position of being unexpectedly pregnant. I was a thrilled yet concerned about my unborn child. I chose not to have any of the tests done on my baby during pregnancy due to the risks the tests presented. My husband and I also discussed that if the tests came back positive we would not terminate the pregnancy, so there was no reason to take these risks. In January 2008, I gave birth to our beautiful baby boy. 

Sometimes I feel guilty knowing that I might have passed along the KD gene; however, I would not have it any other way. During the last couple of years, I have come to the realization that you have to have faith in God and in science. Kennedy's Disease has only been recognized for less than 20 years. During this time, huge advancements have been made to understand the disease while looking for a treatment. Call me naïve, but I believe God gave me this child for a purpose; and I believe He will do what He can to protect my baby and myself from pain and suffering. God has a plan for each of us and I believe that having my baby, Charles, was part of His plan for me.

For more information about Genetic Counseling, please click on the following links: The National Society of Genetic Counselors, the National Institutes of Health, or the Kennedy's Disease Association.

It took being shaken to the foundation of my soul

Emerson said, "Life is a journey, not a destination."

In a recent article I commented that life is a journey and used the analogy about crossing a stream on stepping-stones. Each stone is a life experience that prepares you for the next one. More importantly, before you can fully step onto the next stone, you have to remove your foot (release yourself) from the previous one (your past thoughts on life).

I have found that it is possible to become so involved in the current stepping-stone (life experience) that it becomes nearly impossible to move forward. This usually happens for one of two reasons: fear or contentment.

Fear is one side of the pendulum. Something devastating happens in your life and you just cannot move on. In fact, you would do anything to have the moment just before the crisis over again. It could be the loss of a loved one, a catastrophe or a serious disease. Whatever the reason, you find it difficult, if not impossible to take the next step (move on). Your thoughts and actions are consumed with what has already happened and what could happen tomorrow. Paralysis sets in and over time, wallowing in "what was" and "what if" thoughts incapacitates any rational thinking.

Contentment is the other side of the pendulum. Life is good or great. Things could not be better. You have a great job, a wonderful family, and everyone is healthy. Why would you ever want to take another step forward not knowing what might be waiting for you tomorrow? In other words, why tempt fate? Like fear, contentment is just another form of paralysis. You are clinging to the moment hoping that nothing will ever change. Unfortunately, contentment can lead to uncertainty and unhappiness just as quickly as fear.

In both cases, something has to change to give you a little nudge forward. That often comes by way of a nagging sensation that keeps asking, "Is this all there is" or "There has got to be more."

In my life I have experienced both sides of the pendulum. Several times I took a couple of steps backward trying to recapture a moment in time that I thought was better. The comment, "you can never go back" is so true. Life's experiences are meant to be lived once and never resurrected. There is only one way to move and that is forward.

I was living in the "contentment" mode for several years. It took the realization that I had Kennedy's Disease to shake me to the foundation of my soul. It challenged most everything that I felt was sacred. I am now on the journey once again ... stepping onto the next stone. It is a foreign world to me ... one that is filled with unknowns. "Acceptance" is what I am working on today. For without it, I will never be able to step onto the next stone.

Pain another stepping-stone towards acceptance

I have written several articles about "acceptance." It is a fascinating topic and something that I look forward to achieving someday. I do not believe it is in our nature to accept something negative in our life. On the other hand, I believe that negative experiences strengthen us because it forces us to deal with personal adversity. Whether it is an illness or death of a loved one, or seeing them (or yourself) wasting away, it is difficult to accept and even more difficult to see anything positive resulting from it.

I was reading an article this morning talking about "Life Lessons." The article commented, "Pain is a vortex- Don't stay too long or it will suck you in so deeply that you can't find your way out. Feel the pain, process it, grieve then let it go and move forward. It's a choice and if you move forward, you will have a happier state of mind." I can say the same about anger and frustration. Both are choices you make. Let it go and move on. The article also mentioned, "Watch your thoughts — Watch them carefully, they can be poisonous or medicinal. It's your choice, so choose wisely. You can always choose a constructive thought rather than a destructive one." I have mentioned before that nothing comes into existence uninvited. Those self-destructive thoughts (i.e., "I can't do anything" or "I am worthless") do nothing but become an anchor that keeps you from moving forward.

I came across an interesting article recently that addresses this topic. A portion of the article is shown below and, if interested, you can read the entire article by following the link.

____________________________________

A Lighter Side Of Darkness
by Aileen

"I give her sadness, and the gift of pain, the new moon madness and the love of rain."
– Dorothy Parker's poem Godmother

The reason I love this quote as well as the entire poem is, it reminds me that there is a gift inside of the painful experiences we feel. That gift is often not felt until the pain leaves and we breathe in the quiet stillness of inner peace. ... I see the beauty that pain leaves behind when it's gone. Once we let it leave, and when we no longer hold on to the grieving. A new beauty appears as we experience our own rebirth and return to life.

Once we know the depths of the darkness we can appreciate the depths of joy and happiness. There is a profound appreciation for happiness when the hurt leaves… deeper than before. ... sometimes it may seem our small steps are in the wrong direction, but they will lead us to living the life we desire.

________________________________________

When something painful enters our lives, one of the first questions we ask is "why" him/her (or me). There is no simple answer to the question. For some reason we believe we are immune to these events until they occur. As we grow older and have lived through several of these experiences, we begin to understand that pain (including the pain caused by anger and frustration) are a part of our lives.

Having an argument, or breaking up, with your first love seemed like the end of the world when you were a teenager. Somehow you lived through it. Going through a prolonged illness of a loved one (or yourself) is always a trying time. Experiencing the death of a loved one is one of the most difficult experiences we will ever have. Once again the question of "why" shows up on our lips ... especially if a child is involved. During something like this, acceptance does not come easy because it is difficult to look beyond the immediate pain.

Yet, once we can see beyond the moment (the pain and feeling of helplessness), we tend to come out of these experiences stronger and more appreciative of what we have. We become more aware of the good that does surround us (our health, family, friends, memories, etc.). We see and experience life a little differently because we have survived. In the end, we find that life does go on.

Acceptance is a difficult pill to swallow. By breaking it into smaller pieces, however, it is easier to take. We learn from each experience and these small pieces are like stepping-stones across a wide stream. If we try to leap across, we might fall and get hurt. By taking one-step at a time, however, we eventually get cross dry and without injury.

Buried within this pill called "acceptance" is something called "gratitude." When something tragic happens, it is difficult to see anything positive. Over time, however, we begin to see and understand more clearly. Once we are receptive, another world (a different
perspective) often opens up.

In my case, I now value the small things and moments in my life. Throughout each day I find myself giving thanks because...

• I am loved.
  
• I did not fall.
  
• My wife arrived home safe from her trip.
  
• We are healthy.
  
• We have food on the table and a roof over our heads.
  

I think you get the idea. I did not just realize these things all of a sudden. The realization has come about through years of learning to live with my own form of suffering and pain. Have I swallowed the entire pill and totally accepted the situation? Not even close; for I am continually being challenged. Nevertheless, I am far more appreciative and understanding today. Life is still good and I know I can live with this disease. 

Now, where is the next stepping-stone?

Dr. Lieberman’s Chat with the KDA

Yesterday's KDA chat room guest was Andrew Lieberman, MD, PhD, from the University of Michigan. He is a member of the Kennedy's Disease Association Scientific Review Board. He is also a strong supporter and an advocate of our association's work. Dr. Lieberman is one of my favorite guests because he has a way of explaining current research that everyone can understand. He also has a lot of energy and a great sense of humor that helps keep the chat room visitors involved.

An interesting bit of information we learned was that researchers test a mouse's strength with a paw pressure gauge. Dr. Lieberman was then asked how they actually do the test. He said that they have a grip strength meter that tests how long a mouse hangs on to a triangular metal bar before releasing it. Then, Dr. Lieberman commented that it either shows how much weaker a mouse is with Kennedy's Disease, or how much smarter they are than healthy mice. I loved that response. I would like to believe that the Kennedy's Disease mice are just smarter. They have probably read my "Smart Exercise Guide" and are adhering to the 70% rule.

Dr. Lieberman also mentioned that his lab was working with a chemical biologist to test the interaction of certain molecules with mutated cells. So far, they have tested over 60,000 molecules in an attempt to find one that interacts positively with cells. I cannot remember exactly, but I believe he said that the lab could test 384 different molecules at one time. If that number was correct, that works out to be 156 iterations (pretty amazing).

We also chatted a little about the Michigan State and University of Michigan studies on which came first, the chicken or the egg. No, not really, it is a study to determine if the muscle cells play as an important role as the motor neurons in mice with Kennedy's Disease. For many years, the focus has been on the motor neurons ... they degrade and die and that causes the muscles to waste away. In this theory, it appears that the muscles might begin to waste first or at a similar rate to the motor neurons. (Sorry, I do not believe I did this study justice with my explanation)

Dr. Lieberman also corrected an assumption I had about the results of the Dr. Subue (et al) clinical trials. According to Dr. Lieberman, the Japanese clinical trials show some positive results if the treatment began early in the progression cycle (within the first ten years of onset). This also corresponds with some of the testing of IGF-1 on mice models. If IGF-1 for muscles is administered pre-symptoms, it appears to be very effective. We "old codgers" just cannot catch a break!

The chat room transcript should be available on the KDA website around mid-week. If you get a chance, read the transcript (the section from 10:30 until 11:30 AM). There is some good stuff in there.

Dr. La Spada receives three year grant

Yesterday, the MDA announced that they were awarding a three-year grant to Dr. Al R. La Spada in order for him to continue his research on Kennedy's Disease (Spinal Bulbar Muscular Atrophy). The grant is worth $330,000 bringing the MDA's investment in Dr. La Spada's research on Kennedy's Disease to $1.2 million over the last ten years. This is great news for all of us living with Kennedy's Disease.

In the press release, the MDA said, "Two decades ago, while still an M.D.-Ph.D. student in the laboratory of Muscular Dystrophy Association grantee Kenneth Fischbeck, Albert La Spada discovered the genetic flaw at the root of spinal bulbar muscular atrophy (SBMA), a rare and debilitating disease that causes muscle weakness, primarily in men.

The discovery turned out to be even more significant than La Spada had initially imagined.  "What was so exciting was the discovery I made defined a whole new type of genetic mutation," he explained. The genetic defect was among the first of a class of mutations termed "trinucleotide repeat expansions," which are now known to cause many diseases, including Huntington's disease, myotonic dystrophy, fragile X syndrome and Friedreich's ataxia."

About a year ago, Dr. La Spada moved from the University of Washington to the University of California in San Diego. His current position is Professor of Pediatrics and Cellular & Molecular Medicine, Chief of Genetics in the Department of Pediatrics. "Dr. La Spada concentrates his studies on how neurons degenerate and why the degeneration is restricted to certain cell types in different diseases. His wish, he says, is to "understand why motor neurons are dying'' in spinal-bulbar muscular atrophy (SBMA), a progressive disease that weakens limb muscles (especially legs) and muscles involved in talking, chewing and swallowing."

"He said the new study will determine the biology of motor neurons faced with proteotoxic and hypoxic stress, and could uncover molecules and pathways that are important for neuronal health. Such information could be used to guide therapy development for motor neuron diseases."

Dr. La Spada is a member of the Scientific Review Board of the Kennedy's Disease Association. Other members of the board are Doctors ... Kenneth Fischbeck (National Institute of Health), Diane Merry (Thomas Jefferson University), Andrew Lieberman (University of Michigan) and Paul Taylor (St. Jude Children's Research Hospital).

One of Dr. La Spada's researchers, Parsa Kazemi-Esfarjani, B.Sc., Ph.D., was awarded a Kennedy's Disease Association research grant last November. His research will attempt to determine whether, and to what extent, the mutant androgen receptor (AR) in the muscle contributes to both muscle atrophy and motor neuron degeneration in Kennedy's Disease (KD).  With this knowledge, they hope to develop therapies for KD more effectively and target them to the appropriate tissues.

If not acceptance, than what is it?

The other day I was thinking that life has become a little easier (more comfortable) for me. I would like to think the reason for this is my "acceptance" of the disease. Unfortunately, I often still become frustrated when I try to do certain things and cannot. With acceptance, I would think that a person would no longer become frustrated over his inabilities to accomplish menial tasks.

So, if it is not acceptance, than what is it? What has changed over the last several years that makes me feel "good" about life?

• It is not winter so the muscles and aches are minimal.
  
• My new exercise routine has been helpful ... providing confidence, more strength and plenty of endorphins.
  
• I have not fallen for over three years.
  
• The new wheelchair has been a blessing.
  
• The uplift seat in the bathroom has helped greatly.
  
• Having a second recliner chair that also lifts you up has been nice.
  
• Adding the party deck with ramp access has opened up the backyard to me.
  
• The golf cart allows me to take my dog for walks four or five times a day.
  
• Our house is in the middle of a forest with all kinds of wildlife.
  
• We have some wonderful neighbors and friends that keep us engaged.
  
• This blog has given me a vehicle to express what life is like living with Kennedy's Disease.
  
• The questions and inquiries from my readers make me feel that there is a purpose beyond just "dumping" idol thoughts into the blog.
  
• I am focusing less on the negative and more on the positive aspects of my life.
  
• I am more thankful for all the positives in my life (wife, family, critters, friends, etc.).

Perhaps it is an accumulation of all of the above (and so much more) along with a pinch of "acceptance" thrown in for good measure.

Exercising with light weights is good for you

If you are a regular reader of my blog, you know that I advocate incorporating a "smart" exercise program into your daily routine. I have found a regular program offers significant benefits over not exercising or an occasional exercise regime. The other day a came across a research paper on the type of weight exercise a person should perform. The first link here is a summary, while this second link is a detailed report of the study. This study was interesting, because my wife has been telling me this for years.

"Background: We aimed to determine the effect of resistance exercise intensity (% 1 repetition maximum—1RM) and volume on muscle protein synthesis, anabolic signaling, and myogenic gene expression."

What this means is that they were trying to determine what type of exercise program is better for building muscles, heavy weights or light-weights with more reps.

"Conclusions/Significance: These results suggest that low-load high volume resistance exercise is more effective in inducing acute muscle anabolism than high-load low volume or work matched resistance exercise modes."

Or, for a better explanation:
"Current gym dogma holds that to build muscle size you need to lift heavy weights. However, a new study conducted at McMaster University has shown that a similar degree of muscle building can be achieved by using lighter weights. The secret is to pump iron until you reach muscle fatigue."

Stuart Phillips, an associate professor of kinesiology (the Science of Human Movement focusing on physical activity) at McMaster University, had this to add. "We're convinced that growing muscle means stimulating your muscle to make new muscle proteins, a process in the body that over time accumulates into bigger muscles."

Dr. Phillips went on to say,
"... the project that showed it's really not the weight that you lift but the fact that you get muscular fatigue that's the critical point in building muscle. The study used light weights that represented a percentage of what the subjects could lift. The heavier weights were set to 90% of a person's best lift and the light weights at a mere 30% of what people could lift. It's a very light weight, says Phillips noting that the 90-80% range is usually something people can lift from 5-10 times before fatigue sets in. At 30%, Burd reported that subjects could lift that weight at least 24 times before they felt fatigue."

He then summarized the significance of the findings.
"We're excited to see where this new paradigm will lead," says Phillips, adding that these new data have practical significance for gym enthusiasts but more importantly for people with compromised skeletal muscle mass, such as the elderly, patients with cancer, or those who are recovering from trauma, surgery or even stroke."

BNet explains what muscle protein synthesis is and why it is important. "Muscle buildup is technically known as muscle protein synthesis. This involves the assembling of amino acids into the proteins that make up muscle fibers. Muscle breakdown involves the removal of amino acids from these proteins. Most bodybuilders make the mistake of focusing only on muscle buildup (synthesis) by using supplements that primarily boost protein synthesis. Yet impeding muscle breakdown, technically known as catabolism, is just as important as increasing muscle protein synthesis. That's because muscle growth occurs only when muscle protein buildup increases at a greater rate than muscle protein breakdown. To mix our metaphors a bit, a good analogy is a brick wall, where the bricks symbolize amino acids. If you add three bricks to the wall (protein synthesis) but five bricks fall off (catabolism), the wall gets smaller. If you add five bricks and only three bricks fall off, the wall gets bigger."

Now, we know that no one living with Kennedy's Disease should exercise to a point of muscle fatigue because it is believed to accelerate muscle wasting. At the same time, we know that some regular stimulation of the motor neurons and muscles is actually healthy and helps retain muscle memory. Two physical therapists that I have worked with also recommended the need for developing a program that included aerobic and light weight lifting exercises. They both commented that under normal circumstances (i.e., someone exercising that does not have the defective gene) a person should perform a more aggressive exercise program. However, for someone with the defective gene, they recommend a more, dare I say, "enlightened" approach (do no harm).

That being said, they were both talking about someone (me) in the late fifties and early sixties where the progression was quite noticeable. When I was in my twenties and thirties (and even into my early forties), I pushed myself pretty hard. I do not regret enjoying life to the fullest in those days because you only live once. Now, I hope I am a little smarter and do no harm.

I would like to hear about your exercise program. Do you feel it benefits or hurts you?


 

Men just come from stronger stock

Fortunately, my wife and I are pretty healthy. We hardly ever are down with a cold or the flu. Yet, it seems like when my wife does come down with something, she gets a full dose of it (not easily shaken). This last week she caught a cold-or-flu type bug that she cannot seem to shake. I know she is not feeling well when she takes two or three naps during the day and goes to bed around 8:00 at night.

I talked with both our families this week. When I mentioned that Cindy was not 100%, they also asked if I had come down with the bug. My reply (a standard response of mine throughout the years) is that "Men just come from stronger stock ... it takes more than a little cold (or flu) bug to get us down." Of course my reply always causes the caller (if of the female gender) to come back with some negative response. They just cannot accept that men are healthier and tougher then they are. I attribute this resistance to illness to the "hunter" genes that men are born with. We fought the wars, killed the dinosaurs, and brought home the game for the women to prepare. As hunters, we did not have the luxury of staying in bed if we were not well. We had to hunt or the family would starve.

Women, on the other hand, have always been "gatherers." They go out and pick things (like berries or flowers). If it was wintertime and nothing was growing, the women would just sit around the cave (teepee, or hut) and wait for the man to bring home something to eat. Talk about a great life.

By now, I hope you realize that I am just having a little fun today. Our years together have shown me that my wife is tougher than I am. No matter how bad she feels, she still believes there is a need to take care of me (prepare the meals, do the laundry, etc.). She knows that I will get by, but still feels some an obligation to perform certain duties around the house no matter how sick she is. To further the point, I have never given birth (nor do I want to), had to worry about female hormonal issues, or felt responsible for all the household duties. Even when she was working (outside the home), she still felt it was necessary to prepare all the meals, as well as do the laundry or clean the house before going to bed at night.

My philosophy, on the other hand, is slightly different. If there is no meal to throw into the microwave, call Dominos. If I become tired of pizza, drive to a McDonalds, Hardees, or Subway. The laundry needs to go to the cleaners once a week. House cleaning is what cleaning services do for a living. Furthermore, I would only drive to one grocery store and buy what I like to eat ... whether it is on sale or not. I would also eat all meals in front of the television. I think you get the idea. Of course I would probably die within a few years because of my diet.

As you can tell, I love my wife dearly and she makes me a better person. I hate to see her not feeling 100% at any time. That being said, I still feel that men come from stronger stock (just kidding).

P.S. – My wife, being the giving person she is, passed the bug along to me a couple of days ago. It has to be a conspiracy, right?

Access to Medical Care for Persons with Mobility Disabilities

I ran across this web article yesterday (in MDA's Quest Magazine) and thought it would be worth sharing. The government publication it references is quite good. The Q&A section was very interesting because it explained the responsibilities of a medical facility and health care providers in regards to adhering to the requirements of the Americans with Disability Act (ADA). Most new facilities comply with these requirements, but many family practices are in older buildings and do not have adequate room or even the ability to make major modifications to their facility. My family doctor's office, for example, does have a ramp, but I do not have reasonable access to all rooms. They plan to build new offices in the near future. I plan to give a copy of this guide to my doctor in hopes he will consider these recommendations.

Below is the web article as well as a couple of sections that I took from the publication itself.

"Improving accessibility of health care facilities

The Department of Health and Human Services Office for Civil Rights, in conjunction with the Department of Justice's Civil Rights Division, has produced a free publication titled Access to Medical Care for Persons with Mobility Disabilities.

The 19-page document contains technical guidance for making health care facilities more accessible for patients with disabilities. Although geared toward health care providers, individuals with disabilities also are welcome to the publication, either for themselves or to give to their doctors.

Included in the publication are an extensive question-and-answer section; illustrations of accessible medical equipment and examination rooms; and an overview of ADA (Americans with Disability Act) requirements.

Title III of the ADA prohibits discrimination on the basis of disability by private hospitals, physicians' offices, clinics and other health care providers. The Rehabilitation Act of 1973 prohibits such discrimination by health care providers that receive federal financial assistance.

To download a copy of the publication from the ADA website, go to http://www.ada.gov/medcare_ta.htm. To be sent a copy, call the ADA Information Line at (800) 514-0301."


 

The publication begins by stating, "Both Title II and Title III of the ADA and Section 504 require that medical care providers provide individuals with disabilities:

• full and equal access to their health care services and facilities; and
  
• reasonable modifications to policies, practices, and procedures when necessary to make health care services fully available to individuals with disabilities, unless the modifications would fundamentally alter the nature of the services (i.e. alter the essential nature of the services)."
  

The last section of the publication discusses Staff Training. "A critical, but often overlooked component to ensuring success is adequate and ongoing training of medical practitioners and staff. Purchasing accessible medical equipment will not provide access if no one knows how to operate it. Staff must also know which examination and procedure rooms are accessible and where portable accessible medical equipment is stored. Whenever new equipment to provide accessible care is received, staff should be immediately trained on its proper use and maintenance. New staff should receive training as soon as they come on the job and all staff should undergo periodic refresher training during each year.

Finally, training staff to properly assist with transfers and lifts, and to use positioning aids correctly will minimize the chance of injury for both patients and staff. Staff should be instructed to ask patients with disabilities if they need help before providing assistance and, if they do, how best they can help. People with mobility disabilities are not all the same - they use mobility devices of different types, sizes and weight, transfer in different ways, and have varying levels of physical ability. Make sure that staff know, especially if they are unsure, that it is not only permissible, but encouraged, to ask questions. Understanding what assistance, if any, is needed and how to provide it, will go a long way toward providing safe and accessible health care for people with mobility disabilities."

If reasonable access is, or potentially could be, an issue for you, I recommend that you download the PDF or call the number provided for a hard copy. Being disabled is difficult enough. We should not be further handicapped by less than adequate medical facilities.

Thomas Edison said ...

When discussing the light bulb, "I have not failed. I have successfully discovered ten-thousand ways that won't work."

He also said, "I am not discouraged, because every wrong attempt discarded is another step forward."

In my interviews with young researchers last year, I asked what keeps them going when some potential treatment they have been working on for months, or even years, does not work in humans. Even though their answers were not the same as Edison's quote above, they were all similar. They had discovered something that does not work, so they can rule that out and get back to the drawing board.

Last week the clinical trial (either Phase III or IV) results for "leuprorelin" were published. The trial was 48-weeks in length and was designed to determine the efficacy (capacity or power to produce a desired effect) and safety of leuprorelin on patients with Spinal Bulbar Muscular Atrophy (Kennedy's Disease). In an earlier trial using this same drug, there appeared to be some swallowing benefits from using the drug.

199 patients were involved in this double-blind placebo-controlled trial with 100 taking leuprorelin. The results were "treatment with leuprorelin did not show significant effects on swallowing function in patients with spinal and bulbar muscular atrophy, although it was well tolerated. Disease duration might influence the efficacy of leuprorelin and thus further clinical trials with sensitive outcome measures should be done in subpopulations of patients."

I guess this is why I never became a scientist or researcher. I want to fix something, but I do not want to go through a hundred, let alone thousands of iterations to find the solution. If you have read my articles, then you know that I am very respectful of the work researchers do. Patience, yes one of my favorite words, is a virtue and these researchers continue to amaze me with the abundance of patience they exhibit.

It seems like whenever I push for a potential date when the latest wonder drug will be ready for a clinical trial, the answer is something similar to "we hope soon, but most likely we are still one-to-two years out." For those of us living with Kennedy's Disease, one or two years more seems like an eternity. For the researcher, however, it is just another phase in a long process that might end up proving to be another drug that does not work. Yet, they continue on still hoping for that breakthrough.

Once again I want to say "Thank You" to all those men and women out there working to find a treatment or cure for Kennedy's Disease. They are our hope for a future where we are free from this disease.

Just like a puppet on a string

All of us living with Kennedy's Disease have had moments that would make anyone laugh. I have mentioned several of my moments in this blog. Yes, at the time they were embarrassing, but afterward most of these experiences are cause for a good laugh.

Yesterday, I was talking with Mike, a friend living with Kennedy's Disease. He mentioned a fall that occurred while on vacation this year. I was telling my wife about the fall last night and she was laughing (almost in tears) as she visualized the moment. Significant others have to have a sense of humor about these situations also. Well, in honor of another great moment in Kennedy's Disease history, I will tell Mike's story to let everyone know that these strange events just do not happen to me.

Mike's wife dropped him off near the door of a McDonalds to minimize his walk while she looked for a parking place. The first thing Mike noticed was a six-inch curb without any ramp in sight. Using his cane, he began to step up onto the raised sidewalk. The curb was just a little too high, however, and he could not get the other leg up. Mike did a graceful controlled-fall as he spun around to sit down on the edge of the curb. Fortunately, there were no injuries ... just a little tarnished pride.

Two women walked out the door right when he fell and saw Mike sitting. They asked if they could help. He graciously thanked them, but said no that he could probably make it up himself. Unfortunately, he could not and he continued to sit there. Then a man came by and asked if he could help. Mike told him to grab his belt from behind and lift him up. Anyone who has been there knows that the belt lift is only designed to assist the person in gaining control of his legs while standing up. The man, in this case, was stronger than he looked and he lifted Mike straight up into the air.

Mike's butt was now in the air, but his legs were barely touching the ground while his head was just slightly off the ground. Mike commented that he felt like a marionette (string puppet) being held in the air by his butt. He did not have enough strength to raise his upper body, so he just hung there for a moment. He quickly considered all the options and asked the two women that were still standing there observing the situation to grab his arms and help him straighten up.

Afterward he realized how fortunate he was that he did not have any injuries ... other than his pride.

So there, it is not just me that ends up in these crazy situations.

I would love to hear your favorite story about a moment in time that you had to forget about your pride and just hope that someone came along to help. It helps soothe my bruised ego.

The bite-wedge comes to the rescue again

Last week I went to the dentist to have my teeth cleaned. For the last couple of years the dental hygienist has inserted a bite-wedge (plastic wedge) between my upper and lower teeth on the opposite side she is working on to make cleaning easier. I found that my lower jaw would begin to shake (tremors) if I have to hold it wide open for too long. Since begin using the bite-wedge, cleaning has been much easier on my jaw muscles.

Today, I had a crown put on a cracked rear molar. Once again the bite-wedge became indispensible. If I had to hold my mouth open for as long as they worked on it today, it would have been uncomfortable to say the least as well as difficult for the dentist to work. The new computer process that takes a picture of the tooth and develops a 3D model is something else. I was impressed with the technology, but it will not work if your jaw is shaking. The bite-wedge solved the problem and allowed for an easy modeling of the tooth's crown right without having to send it off to the lab. The whole process from picture to creation of the crown took ten minutes. Simply amazing!

As long as I am on the subject of teeth, let me plug a couple of products that really work for me. The Phillips Sonicare Electric Toothbrush was a great investment a few years ago. As I have mentioned before, my hands just do not want to function as well during the winter. While brushing my teeth, I was having a more difficult time cleaning all areas of my teeth. My dentist recommended the Sonicare toothbrush and I decided to try it. It works great for me. I love the larger, easier to grip handle. The timed brushing is also nice ... providing thirty seconds per section of teeth and an extra thirty seconds if you really want brighter front teeth. My dental hygienist tells me that my teeth are much better (less tartar and buildup) since I started using it. A few months ago my wife finally decided to try it and she also likes it.

Wintertime also makes it harder for me to floss. My left forefinger just will not hold the floss. I began using the "Reach Access" floss'er last year and it really helped. It looks something like a toothbrush except instead of bristles it has dental floss. You can easily grasp the handle and it cleans all of the hard to reach areas. Presto, no more difficulties in flossing.

All of you out there who are living with Kennedy's Disease, please share your success stories with teeth cleaning and visits to the dentist.

The younger generation needs to step up

If you are a frequent reader, you know that I occasionally discuss the Kennedy's Disease Association. This is one of those times that I believe something needs to be said about a concern of mine.

I believe the KDA needs some younger people to step up (become more active in the association). My concern stems from the fact that the average age of the Kennedy's Disease Association (KDA) board of directors is getting up there. Most of the board members are in the sixties and until two weeks ago the youngest member was in the mid-forties. Furthermore, the number of active committee members has declined over the last few years.

I know I am probably overreacting (as my parents did when the Beatles were introduced to America on the Ed Sullivan show). I recognize, however, that with the average age of the board members increasing and our physical capabilities declining that we need some younger blood and a more diverse board (ethnically as well as gender). Board members have also had to increase their involvement in committee activities because participation from volunteers has dwindled. Note: Just because I mentioned the younger generation in my header, that does not mean we will turn down more mature individuals who are willing to help.

I know that one of the best moves I ever made was joining the KDA. Ranking right up there with 'joining' was when I became a board member. I feel blessed to be able to work with this great team. Everyone contributes in his or her own way. The diversity of opinion and level of involvement varies, but the enthusiasm and support never wavers.

Since the KDA is an all-volunteer organization, we also have a need for people to serve on its various committees. The current committees are:

• Fund Raising – This is still the lifeblood of the KDA. Without donations and other financial support, we cannot support research and education.
  
• Public Relations – The KDA does not receive enough press. We need people who can write press releases and help with the newsletters.
  
• Conference – This team plans and coordinates our educational conferences and symposiums.
  
• Education and Research – We are always in need of people to search the internet for current research and other articles/resources that could benefit those living with Kennedy's Disease.
  
• Support Groups (Subgroups include Carriers, Family Members and Friends, Wives and Significant Others, Support Forums, and Individuals with Symptoms) – These subgroups support those living with Kennedy's Disease. These volunteers respond to forum inquiries, host chat rooms, and provide support to those in need. I am certain this committee could do so much more to help if they had more volunteers.
  

Below are some general questions concerning the board and committee positions. If you have any specific questions or concerns, please do not hesitate to ask.

What committees would I serve on or chair?  It depends upon your interest and skill set.  You are not assigned to a committee; you choose one that you are interested in.

How much time will my committee involvement take up?   It depends on many factors.  If you are on the conference planning committee, it takes some weekly involvement (about 1-2 hours a week) for about three months and then some occasional involvement for about two months.  Some committees like fund raising take more time (perhaps up to 2-to-4 hours a month).  Time involvement is based more around the desires of the person serving.

Is any travel involved?  No travel is involved to serve on any committee.

What other roles might I be involved in?  That depends upon the circumstance and your desired level of involvement.  For example, a couple of years ago we decided to move our data off-site to a server with remote backup.  This took a small amount of time, but nothing substantial.  We have two people that quarterly audit the financial transactions/processes of our treasurer. 

I am working full time.  I am not certain how much time I can afford to give. Is that okay?  Several board and committee members are working full time.  They are not expected to volunteer a lot of time to perform regular KDA work, but they can still serve on committees and work on projects. 

What are you looking for in board and committee members? As mentioned above, we are looking for diversity of opinion, fresh ideas and people willing to help the KDA become a more viable organization. 

Is there any compensation or benefits?  I will not get into all the wonderful benefits (no compensation and rarely a thank you). Personally speaking, the rewards have been wonderful and I still feel it is a great opportunity and one that I thoroughly enjoy.

If I have not sold you yet on this challenging and exciting opportunity, I probably never will. Nevertheless, I had to try.