Larry Luxner,  —

When it comes to Duchenne muscular dystrophy (DMD), Leonardo Feder knows he’s among the lucky ones. A resident of São Paulo, Brazil’s largest city, Feder was diagnosed with Duchenne at age 6 and immediately began taking corticosteroids as well as heart medicine and supplements. Leonardo Feder,…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 diseases listed in the latest…

If it weren’t for a serious auto accident during his senior year of high school, Christopher Anselmo might have had to wait many more years before discovering he had limb-girdle muscular dystrophy (LGMD). This rare condition — a general term for more than 30 muscle-wasting conditions — affects anywhere from…

Emily Crossley was a well-known TV correspondent for Britain’s Channel 4, and a presenter for CNN International’s World Business Today program. But her own world was turned upside-down the day she learned her son, Eli, had Duchenne muscular dystrophy (DMD). “The initial diagnosis was so devastating. There’s no escape. It’s…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

Close to 85 percent of boys and young men with Duchenne muscular dystrophy have never seen a mental health professional, says a leading neurologist based in Washington, D.C. Mathula Thangarajh, MD, of Children’s National Medical Center, gave a talk, “Behavior and the Brain in Duchenne,” at the recent…

At 21, Hawken Miller certainly doesn’t look like a typical Duchenne muscular dystrophy patient. For one thing, unlike most boys and young men with Duchenne, Hawken isn’t obese — or even overweight — even though he’s been on steroids for years. That’s because he eats a balanced, high-protein diet with generous…

Until her son, Will, was diagnosed with Duchenne muscular dystrophy as a 7-year-old, speech pathologist Tiffany Cook had never heard of the disease. Today, it’s literally her full-time job. As family resource manager with the nonprofit organization CureDuchenne, Cook — who works from her home in Dallas — helps…

For nearly half a year, Brenda Wong, MD, has led New England’s first and only interdisciplinary clinic devoted exclusively to boys and young men with Duchenne muscular dystrophy (DMD). The Duchenne Program at UMass Memorial Medical Center is located in Worcester, a 45-minute drive west of Boston. The clinic,…

Like many mothers of boys with muscular dystrophy, Deborah Hall hasn’t had an easy life. Hall, the daughter of a chemical engineer and a stay-at-home mom, was one of six siblings growing up in Boaz, West Virginia. When her younger brother, John, was 3 years old, doctors diagnosed him with…