April 29, 2003

ON THE MONUMENTAL IMPORTANCE OF EVERY DISEASE IN MDA’s PROGRAM

MDA’s programs of research and health care services cover a wide spectrum of neuromuscular diseases, more than 40 in all. These disorders can be distinguished in a number of ways, from age of onset to rapidity of progression, from region of the body affected to the question of whether an obvious inheritance pattern is present.

Certain of these diseases -- such as the spinal muscular atrophies, Charcot-Marie-Tooth disease or the Duchenne and myotonic forms of muscular dystrophy -- affect many thousands of Americans. Others affect a smaller portion of the population but are no less serious in their destructive effects on mobility, respiration and other vital body processes.

I’m proud to say that MDA offers the same broad program of health care services for all of the diseases we cover, regardless of numbers affected. MDA’s network of 230 hospital-affiliated clinics serves individuals with all of these diseases who are registered with MDA, offering diagnostic and follow-up care, and providing assistance with purchase of medically prescribed equipment, including but not limited to wheelchairs and leg braces. Other vital MDA-provided services that make life better for families include MDA support groups, loan closets and MDA’s summer camp program for children.

MDA’s research program targets all of these diseases, whether through funding of disease-specific investigative studies or by providing grants directed at broader neuromuscular research that may yield insights into a variety of diseases. MDA-funded research into such disorders as acid maltase deficiency continues to make effective inroads in the search for treatments and cures.

MDA’s award-winning magazine, Quest, offers in-depth scientific articles on these disorders as well as lifestyle features of interest to a broad cross-section of the families we serve.

From the Diseases link on our comprehensive Web site, Internet users can find specially designed pages for each of the diseases in our program. Each page contains a plethora of links and information, providing an invaluable gateway to medical and lifestyle resources for those affected by these diseases. In the last several years, MDA has augmented its online services program with a wide range of regularly scheduled chat sessions on topics ranging from recent research developments to employment to parenting.

The Jerry Lewis MDA Telethon, too, has been a showcase for the extreme variety of neuromuscular diseases and the people affected by them, and in recent years has familiarized millions of viewers in the United States, Puerto Rico and Canada with families and individuals fighting CMT, Duchenne, limb-girdle and other forms of muscular dystrophy, nemaline myopathy, spinal muscular atrophy, amyotrophic lateral sclerosis and dermatomyositis.

One of our highest-profile Telethon personalities in the last two years has been 12-year-old MDA National Goodwill Ambassador Mattie Stepanek. Through his appearances on our Telethon’s national broadcasts in 2001 and 2002, Mattie has helped educate millions of Americans about his extremely rare disorder, dysautonomic mitochondrial myopathy, which presents Mattie with numerous daily challenges affecting his mobility, respiration and his ability to metabolize food. What’s more, in his ambassador role Mattie has appeared in behalf of MDA at public gatherings across the country.

Although the number of people affected by Mattie’s disorder is indeed small, one can't overstate the enormity of the disease’s effect on a family such as his. Mattie’s mother, Jeni, has an adult-onset form, a fact that was unknown to her until after the birth of her four children, all of whom inherited the disorder. Mattie’s three siblings died of the disease, and Mattie’s life has been marked by frequent hospitalizations and several close brushes with his own mortality.

From the perspective of a family like the Stepaneks, mitochondrial myopathy can hardly be termed “rare.” It’s indeed an immensely significant presence in their lives, one that affects nearly every facet of their existence and must be reckoned with constantly.

At MDA, we recognize that all of the diseases in our program are of monumental importance, most especially to affected families. This vital understanding will continue to inform and energize our efforts as we strive to administer the finest in research and services programs to make life better for these families.

With every best wish...

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