UF doctors cast net to help muscular dystrophy patients<

by: John Pastor

Patients and families affected by muscular dystrophy urgently need to take practical steps to help slow the destructive course of the disease, say University of Florida researchers who recently have launched a Web-based effort to collect information from people coping with the illness.

"The reason that it is so important to identify things that may offer a margin of benefit is that the realistic time horizon for a real treatment or cure is within decades, maybe sooner," said Dietrich Gravenstein, M.D., UF College of Medicine assistant professor of anesthesiology. "I have experience with individuals who suffer from rare diseases. I see how stoic the parents and patients are that face these challenges and I have been frustrated by how little scientifically
validated advice there is to simply help them confidently make the many choices they face."

Muscular dystrophies, affect between 50,000 to 250,000 people at any one time, according to the Muscular Dystrophy Family Foundation. In Duchenne muscular dystrophy, which affects one out of every 3,500 to 5,000 boys, the disease starts to tear down muscles at
birth and is typically diagnosed before age 6. Most patients are wheelchair-dependent by age12. By their late teens, most require a respirator to breathe. Victims of the disease do not live past their
20s.

The Web site -- www.UFanswers.org -- will collect voluntary submissions about personal experiences, lifestyles and the progression of the disease. Even families who have lost loved ones can contribute their experiences and help others living with muscular dystrophy.

Users will give their names for verification purposes, but individual information will be kept strictly confidential.

Questions about diet and medication -- even the moment a wheelchair is brought into a household -- will be asked through the site. The Web site differs from blogs or traditional sites that might feature chat rooms, personal experiences or lists of resources in that it is a data warehouse that researchers with approved protocols can mine for strategies to impact the disease. It uses advanced information science techniques to collect and classify data.

"Anecdotal information is unscientific, but by gathering it in great numbers, we hope to pinpoint factors that are causally related to an improved disease course," said Gravenstein, who has a son with muscular dystrophy. "Right now, we are forced to speculate. It's terribly disheartening. For example, conventional wisdom is to let children regulate their own play; that when they tire they will rest. Yet strenuous exercise and contact activities are discouraged because this accelerates muscle loss. So, we are left to ask: are other activities such as stair climbing harmful or harmless? And with the respiratory or cardiac failure all patients eventually develop, are these accelerated if someone in your home smokes? What are the effects of surgery and how the anesthetics are managed? Parents anguish over such questions – for which there are currently no answers -- and we hope to shed light on them."

Additional sets of clinical and anecdotal data would be useful to the muscular dystrophy community, according to Pat Furlong, president of Parent Project Muscular Dystrophy, an Ohio-based, not-for-profit organization that works to help families, support research and build international collaborations.

"Over the last 20 years, I have spoken with more than 1,000 families of boys with Duchenne or Becker muscular dystrophy," Furlong said. "Without exception, the families, researchers, physicians and the health-care community would benefit from the ability to access information relevant to a certain condition. It is certainly critical for the muscular dystrophy community to work together to better understand what positively or negatively impacts individuals a<

For Healthcare Professionals