Rep Smith, fathers, meet with NIH researchers fighting for cure to deadly muscle disorder

Congressman Chris Smith hosted a meeting last week with top doctors and researchers from the National Institute of Health and two fathers from his New Jersey district who are fighting to saves their sons from a devastating disease.

James and Karen Raffone of Manalapan and David and Maria Schultz of Hamilton are parents of sons with Duchenne Muscular Dystrophy (DMD). Both families have dedicated their lives to finding a cure for their sons and the hundreds of thousands of boys who until recently faced certain paralysis in their teens and death in their early twenties. The Schultz family founded Ryan’s Quest, the Raffones founded JAR of Hope.

Duchenne Muscular Dystrophy (DMD) is a progressive muscle disorder affecting around 300,000 boys worldwide; around 400 to 600 boys in the U.S. are born with DMD each year. It causes a loss of both muscle function and independence, with a 100 percent fatality rate occurring normally in the late teens or early 20s. There is currently no cure for DMD.

For an understanding of the impact that DMD has on the boys born with the disease, and their families, watch this video by the Raffones:

“There is both an ongoing need and reason for optimism,” Smith said following the meeting in his office on February 6. “The NIH experts at our meeting said they believe a breakthrough for DMD is in reach.”

Raffone and Schulz were able to hear first-hand from NIH experts of promising research that is being conducted for DMD, mostly by the six federal Wellstone Muscular Dystrophy Research Centers around the country, by researchers at private institutions that have received NIH grants, and by small biotech businesses.

NIH experts present at the meeting were Walter Koroshetz, MD, Director of the National Institute of Neurological Disorders and Stroke (NINDS); Glen Nuckolls, PhD, Program Director at the NINDS Division of Neuroscience; Tom Cheever, PhD, Program Director of the Muscle Disorders and Therapies Program at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); Heather Rieff, PhD, Health Science Policy Analyst at the Office of Science Policy and Planning of NINDS; and Lauren Mullman, Legislative Analyst at NIH.

Doctor Walter Koroshetz emphasized the importance of raising awareness of the dire circumstances of families living with DMD.

“The NIH experts at our meeting said they believe a breakthrough for DMD is in reach,” said Smith who is leading the charge for more federal funding for DMD research. “However, we also learned that 84 percent of the qualified grant applications for DMD research are shelved because of a shortfall in funding. The sooner we expand federal support to competent, unfunded studies, the sooner we may identify better treatment therapies and, one day, a cure.”

“It’s an honor to work side by side with Congressman Smith. He’s a man of his word and fights with the passion and determination of a parent living with a child who has Duchenne. Together, we will find a cure,” Raffone said.

“We are grateful for Congressman Smith’s dedication to increase medical research funding for muscular dystrophy. We are in a race against time and an increase in funding is crucial to bring potential therapies to children diagnosed with Duchenne muscular dystrophy,” said Schultz.

Doctor Walter Koroshetz emphasized the importance of raising awareness of the dire circumstances of families living with DMD.

In the September Labor-HHS appropriations bill which passed Congress and became law, NIH received a $2 billion increase in medical research funding. The Labor-HHS Committee Report included language Smith championed to push NIH to significantly expand their research on DMD.

“No one should be satisfied with a 1-in-5 funding ratio especially when experts say significant progress is close by,” Smith said. “It is critical that we focus more resources on researching and treating DMD, giving hope to families like the Raffones and the Schultzes who are fighting so hard for a cure.”