Tuesday, August 30, 2016

Another call for help

It is time to let our lawmakers know the importance of complex rehab technologies for wheelchairs.. Please consider contacting your senators and representatives by using this easy MDA program.

As available technologies improve, I can see devices in the near future that will make life easier and keep us independent longer. Thank you for your consideration.

Help Ensure Access to CRT

Last year, we asked for your support in preserving access to complex rehab technologies (CRT) by urging Congress to stop the Center for Medicare and Medicaid Services (CMS) from applying competitive bidding pricing to complex rehab wheelchair accessories.  CRT and related companion parts or accessories are needed by many people living with muscular dystrophy, ALS, spinal muscular atrophy (SMA) and related neuromuscular diseases to live healthy and independent lives. The collective efforts were successful in securing a one-year delay prohibiting CMS from applying the cuts to power wheelchairs through December 31, 2016.  With that date fast approaching, we need your help again.  Take action below to let your members of Congress know that access to CRT is critical, and urge them to support and bring H.R. 3229/S. 2196 to a vote.

Thursday, August 25, 2016

I have trust issues

Definition of Trust - firm belief in the reliability, truth, ability, or strength of someone or something.

I grew up trusting that my muscles would be there whenever I needed them. I never thought about walking, running, standing up, picking things up, opening jars or cans, eating and drinking, or playing sports. It was natural and easy — a God-given ability.

When I first stumbled and later when I first fell, I would laugh it off thinking that I was just getting old. I never once considered these events to be associated with anything neurological. Even when stumbling or falling happened a little more often, I still dismissed any thoughts that something strange was happening to my body. I did what any person would do. I exercised harder. And, the cramping was just a byproduct of my more intense workouts.

Today, I survive because I have a lack of faith in my ability to walk, stand up, etc. I cannot trust that my muscles will respond the way they should to keep me upright and free from harm. I don’t like living like this, but I know it is better to be safe than sorry. Even with this skepticism, I still occasionally find myself in trouble. A knee might buckle, my grip might fail, or my throat might close off.

What trust I had in my strength, was extinguished long ago. Now, every day is a good one when I do not have a scare. Even though I can no longer place my trust in my muscles’ abilities, I still trust that I can be a resource, an ear to listen, and a voice when called upon. It is my calling. It is what gives my life meaning.

Keep the faith!

Sunday, August 21, 2016

Living with a Disability

Reading the NewYork Times article, “Becoming Disabled,” stirred some emotions. I felt the writer, Rosemarie Garland-Thomson, did a fine job of crossing the boundaries of what it means to be disabled as well as what is a disability. So many of us living with a disability, like a progressive motor neuron disease, have had to face the realization, often far too soon in life, that we are now different. Initially, we find it to be a lonely world out there. Fortunately, with the right support, we emerge from the tunnel and discover there is life after disability.

Below is an excerpt from the Times article. I hope you enjoy it.

Roughly one in five Americans lives with a
disability. So where is our pride movement?
“… The fact is, most of us will move in and out of disability in our lifetimes, whether we do so through illness, an injury or merely the process of aging.

The World Health Organization defines disability as an umbrella term that encompasses impairments, activity limitations and participation restrictions that reflect the complex interaction between “features of a person’s body and features of the society in which he or she lives.” The Americans with Disabilities Act tells us that disability is “a physical or mental impairment that substantially limits one or more major life activities.”

Obviously, this category is broad and constantly shifting, so exact statistics are hard to come by, but the data from our most reliable sources is surprising. The Centers for Disease Control and Prevention estimates that one in five adults in the United States is living with a disability. The National Organization on Disability says there are 56 million disabled people. Indeed, people with disabilities are the largest minority group in the United States, and as new disability categories such as neurodiversity, psychiatric disabilities, disabilities of aging and learning disabilities emerge and grow, so does that percentage.”

“… Still, most Americans don’t know how to be disabled. Few of us can imagine living with a disability or using the technologies that disabled people often need. Since most of us are not born into disability but enter into it as we travel through life, we don’t get acculturated the way most of us do in our race or gender. Yet disability, like any challenge or limitation, is fundamental to being human — a part of every life. Clearly, the border between “us” and “them” is fragile. We just might be better off preparing for disability than fleeing from it.”

“… Becoming disabled demands learning how to live effectively as a person with disabilities, not just living as a disabled person trying to become nondisabled. It also demands the awareness and cooperation of others who don’t experience these challenges. Becoming disabled means moving from isolation to community, from ignorance to knowledge about who we are, from exclusion to access, and from shame to pride.”

Thursday, August 18, 2016

The Journey – Finding the Spirit to Continue On

I have written about the journey several times over the last six years. It would have been interesting if I started this blog while I was in the early days of learning to live with Kennedy’s Disease. I am certain my perspectives have changed dramatically – hopefully for the better.

Regularly readers contact me or comment on a post. I love hearing from you because it reinforces that we are all in this together. We reach out when we are in trouble. We help whenever we can. We learn from each other. And, we share that knowledge with others who are also finding their way in this new world.

Last night while transferring from my chair to the bed, I flashed on how accepting I have become of this evolutionary process I am experiencing. My daily routines are much the same, but they have been modified many times to accommodate my capabilities. When a loss of a capability first happens, there is always some frustration and angst. After the initial, “Oh no, not that too,” follows with a period of experimentation. Can leverage solve the problem? Can a tool or aid help? If none of the experiments work, the next question is can my wife do it?

Someplace in the middle of this process of discovery, I end up asking two questions –
“How important is it?”    
“What if I can’t find a solution?”

Initially, there is often the belief that I’ll never be able to survive without that. I call it the end of the world scenario. This was especially apparent when I could no longer perform the work that I loved. Somehow I survived and life went on. 

Through the forty years of the progression I learned a valuable lesson. My spirit is a lot stronger than I ever imagined. And, if my spirit is willing, I will find a way.

Acceptance allows the spirit to remove most of the stumbling blocks we face. Once they are removed, the spirit finds a way to move on with our lives. There is an old adage that is appropriate. “When life gives you lemons, make lemonade.”

There is another one I like from Alexander Volkov. “Your journey never ends. Life has a way of changing things in incredible ways.”

If you believe this, then EMBRACE THE JOURNEY.

Monday, August 8, 2016

Neuromuscular junctions are pathological but not

This abstract was published in PubMed ahead of the printed version of the study. No additional information is available at this time, but it sounds interesting.

Neuromuscular junctions are pathological but not denervated in two mouse models of spinal bulbar muscular atrophy

Poort JE1, Rheuben MB1, Marc Breedlove S1, Jordan CL2.


Spinal bulbar muscular atrophy (SBMA) is a progressive, late onset neuromuscular disease causing motor dysfunction in men. While the morphology of the neuromuscular junction (NMJ) is typically affected in neuromuscular disease, whether the NMJs in SBMA are similarly affected by disease is not known.”

Follow this link to read the rest of the abstract.  NeuromuscularJunctions

Wednesday, August 3, 2016

SMA Drug Trial Goes So Well It Ends Early

This Los Angeles Times article on a new treatment for SMA Type 1. This is very promising news and I believe it will lead to additional breakthroughs for Type 2,3 and 4. SMA is different then SBMA (Kennedy's Disease), but antisense technology is being used in other progressive disorders and could be the bridge to a treatment.

Below is an excerpt from the Times article. You can read the entire article by following this link: Ionis shares leap 30% after a drug trial goes so well, it ends early

"The only option

Spinal muscular atrophy occurs in about 1 out of 6,000 to 10,000 births. It's caused by mutations in a gene that reduce production of a protein needed for survival of movement-controlling spinal neurons.

Nusinersen increases production of the protein from a closely related gene by altering how RNA made from the gene is translated into protein. This is done with antisense technology, a field pioneered by Ionis.

Drugs based on antisense technology are meant to block or change how targeted genetic instructions delivered through RNA affect the making of proteins, which are the building blocks of life. For instance, they could block certain mutations from resulting in protein synthesis that causes an unwanted medical condition.

Nusinersen has been granted orphan drug status in both the U.S. and the European Union — indicating it shows promise in treating a rare disease or condition — and it’s designated for fast-track review in the United States."