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.

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Study raises concerns for two with SBMA

I am 40 years old and have SBMA unity’s situation. A useful statistic [spinal-bulbar muscular atrophy, or that could have been developed … Kennedy disease]. I read the article to identify the seriousness of the in the September/October Quest SBMA experience [might be] the level [“Study of 25 found SBMA has small of disability at death. Another may impact on function, survival”]. I must be the percentage of patients with tell you that I find your decision to a given level of disability, at a given publish the article irresponsible. The age, with a given marker score (CAG authors of the study based their con- repeats) … Hopefully we will come clusions on a sample of 25 men with to understand that SBMA is not such confirmed SBMA seen at the Mayo a big deal, as your article implies! 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.

Bob Heitzman

San Luis Obispo, Calif.

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 comm

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 neurodegener-ative 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.