The Tragedy and Triumph of Facing Muscular Dystrophy:
The Story of Charley
By Joan Baum, Ph.d.
There is arguably no greater pain than learning that your child has a fatal disease. Two and a half years ago Tracy Seckler’s now six-year-old son Charley was diagnosed with Duchenne Muscular Dystrophy (DMD). Since then, she and her husband, a radiologist, have been waging a campaign of passion and purpose to focus on moving research out of the lab and into more clinical trials. She is well aware, sympathetically so, that so many serious illnesses claim attention, but she makes an important distinction: many of those illnesses—all deserving of funding to advance research—are complex problems dependent on basic scientific investigation. In the case of DMD, however, “there is light at the end of the tunnel.” She just wants it to reach her son in his lifetime.
She notes that scientists know a lot about the etiology of MD, and particularly about its more aggressive form, Duchenne (named for the French neurologist who first wrote about it in the 1860s). They know that mutations in the dystrophin gene, can be detected by a blood test. They know that approximately two-thirds of cases are inherited (spontaneous genetic mutations accounting for the other third). They know that usually only boys are affected (though mothers can be carriers), and that children diagnosed with DMD rarely live beyond their early twenties. They are also learning about how to arrest or modify its implacable onslaught. There has been “huge progress” in the last twenty years, Tracy Seckler points out, with three human trials begun just this past year alone. “This is one clear case where money can make a difference.” To that end, she and her husband have established Charley’s Fund, dedicated to supporting research in this country and abroad, much of it concentrated on “transitional research,” moving from lab animals to human clinical trials and testing intravenous therapies. Although The Netherlands has the most advanced program so far, Wellstone Centers of Excellence in this country (named for the senator from Minnesota who was tragically killed in a plane crash a few years ago) are picking up the DMD challenge. It is difficult, of course, for serious illnesses that do not affect comparatively large numbers of people to compete adequately for research dollars, but it is the Secklers’ hope that their for-profit foundation - www.charleysfund.com - will continue to attract scientists who want to work on treatment and whose research will attract biotech companies and venture capitalists. The sad facts are that NIH funds have been severely cut, grants have not been renewed, and the application processes is still far too long for those for whom the clock is ticking.
Nonetheless, the kind of self-education Tracy Seckler, a former teacher, has undertaken could well serve as a model for parents of all seriously ill children. She tries to see life through her son’s eyes, she says. At a pond recently she tried not to focus on the kids with hockey sticks zipping by on the ice but on her son, moving more slowly on skates, but clearly enjoying himself. Small acts—selling ankle bracelets for the foundation—help morale and attract potential donors. She has gone into Charley’s kindergarten class to talk a bit about MD, and she and her husband have developed a guidebook about how they answer questions—and behave. They try not to make Charley feel as though he has a dark “secret.” Since he must take up to 20 pills a day, she offers “muscle drinks” (milk) as well to seven-year old Sam, and the whole family does stretches exercises. They use the term MD, though, of course, the progressive nature of the disease is not discussed with their older son. There is much that parents—and potential parents—can do. Genetic counseling for pregnant women should include testing for MD, but parents of seriously ill children should also take advantage of the message board community on the Internet. There, they will find not just information but an instant community, eager to share and support.#
To make a contribution go to www.charleysfund.org
