MDA Mailbag November-December 2008

by on November 1, 2008 - 3:26pm

QUEST Vol. 15, No. 6

Letters to Quest: Thanks to Quest & MDA ** MMD and the brain ** Study raises concerns for two with SBMA, ALS ** Thanks for summer camp support ** Go gaming!

Thanks Quest & MDA

I am 30 years old, diagnosed [with congenital myopathy] at 2. As an adult, I have had to deal with the bureaucracy of health care, being on disability, fighting for it, justifying it — all the while working part time so I have something to call my own. I am finally on Medicaid after three years of fighting and lawyer fees. No regrets.

It is so VERY important to me to read Quest and be part of a community that truly knows struggle and the joy of success. It is not about what you have but who you are and what you do with the gift of your personhood with others. Right now my biggest struggle is chronic pain. I search for online support and find that the MDA site, along with Quest, provides me with the resources available. I want to be independent and reading the articles inspires me that I can once again live on my own, and look in the mirror and say I’m proud. I am grateful to Quest and the MDA for giving me strength and hope for my lifetime.

Kristen Meyer
Harwinton, Conn.

MMD & the brain

I must commend you on your article, “The Brain in MMD” (Sept.-Oct. 2008 Quest). Mental involvement [in myotonic muscular dystrophy] has by far been the most challenging aspect of the disease in our family, even compared to an implanted cardiac device, an impacted colon and eyelid surgery. If I had only had Patricia Davis’ description of executive function 20 years ago — “a spectrum that involves drive, motivation, focusing, planning and the ability to suppress short-term gains for long-term goals.” It would have made life less challenging vis-a-vis teachers, coaches and mental health treatment center personnel. It describes my younger son precisely. Again, thanks for the great article.

Shannon Lord
Atlanta, Ga.

Study raises concerns for two with SBMA

I am 40 years old and have SBMA [spinal-bulbar muscular atrophy, or Kennedy disease]. I read the article in the September/October Quest [“Study of 25 found SBMA has small impact on function, survival”]. I must tell you that I find your decision to publish the article irresponsible. The authors of the study based their conclusions on a sample of 25 men with confirmed SBMA seen at the Mayo Clinic. [The study and Quest article] led readers to believe that 25 men is a representative sample of all men diagnosed with SBMA … This [is] simply not true. There are 353 men in the United States with confirmed SBMA who are members of the Kennedy’s Disease Association and 540 confirmed members worldwide. I am very disappointed that [MDA] would acknowledge and then publish the findings of a non-representative study.

James B. Herndon II
Bloomington, Ind.

I was disappointed in the article regarding SBMA research by a doctor at Mayo Clinic. SBMA is a slowly progressive neuromuscular disorder that plays out over a lifetime. The physical disabilities experienced with SBMA are the same as those of ALS but instead of playing out over 10 years or so, they play out over 20 to 30 years. Those with SBMA first begin to experience physical limitations in the 50s. From then on, there is a steady decline of physical ability until death, often at the average age of mortality, usually as a result of some complication due to muscular atrophy … Appeals for research funds could very well be damaged by your article as it implies that SBMA is not a big deal.

I have SBMA, age 60, 75 percent disabled at this point. I guess we are fortunate that we do not die early from SBMA. However, one could conclude that experiencing the progression of ALS symptoms for 30-plus years is a mixed blessing. Perhaps … the Mayo Clinic doctor could re-think the … research, to better reflect the SBMA community’s situation. A useful statistic that could have been developed … to identify the seriousness of the SBMA experience [might be] the level of disability at death. Another may be the percentage of patients with a given level of disability, at a given age, with a given marker score (CAG repeats) … Hopefully we will come to understand that SBMA is not such a big deal, as your article implies!

Bob Heitzman
San Luis Obispo, Calif.

Editor’s note: Quest’s "Research Updates" reports on reputable research into diseases covered by MDA, regardless of the findings. The Mayo Clinic SBMA study was first published in the scientific journal Neurology. Below is the response of the corresponding author to the concerns raised by the writers:

We acknowledge that the clinical experience in SBMA differs widely among those affected. Some remain minimally affected while others suffer substantial neurological deficits. We are not intending to minimize the substantial effects this disorder has on some. Our study does demonstrate that overall survival is nearly as good as normal age-matched controls.

As mentioned, all our surviving patients had some disability and the range of disability was wide. However, many of the patients remained ambulatory and living independently with this diagnosis. There is no question that patients with SBMA suffer limitations that can be significant, particularly later in the disease. Our objective was not to discredit this fact, but rather to focus on the positive aspects of this neurodegenerative disorder, particularly in comparison to similar disorders such as ALS (which this condition is frequently mistaken for). I apologize if our paper has been distressing to some of those affected by SBMA.

Eric J. Sorenson, M.D.
Department of Neurology
Mayo Clinic

Rochester, Minn.

Thanks for the support

We would like to extend a warm and heartfelt thank you to all of the organizations and individuals that make the annual MDA summer camp possible. In particular, the Boucher Group continually supports families with neuromuscular diseases and plays an integral role in sending area children to MDA summer camp at no cost to our families in Southeastern Wisconsin.

The Boucher Group also extends their generosity to the parents of children at camp, hosting the annual “While the Kids are Away, the Parents will Play” Parents’ Night Out Party.

On behalf of all of the area families supported by the Muscular Dystrophy Association, we thank the Boucher Group and the community for your continued assistance and generosity.

Tod & Patti Riebow (parents of Kyle)
West Allis, Wis.

Go gaming!

I just wanted to say how happy I was to see the cover of my newest Quest magazine, talking about online gaming!

I have CMT and play Everquest II. I have played for several years and my main character is currently level 80 — the highest you can achieve in game at the moment. I love that in game I can run, jump, fight or whatever.

Thank you so much for letting others know about this fun world that can indeed create lifelong real-life friendships!

Marcy Able
Lancaster, Texas

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