Healthwatch 16: Treating Neuromuscular Diseases

GEISINGER MEDICAL CENTER -- Experts have made great strides when it comes to treating neuromuscular diseases.

Doctors at Geisinger say developments they were reading about in a magazine a year ago are happening now, thanks, in part, to advances in genetic research.

There is a summit happening at the end of the month for anyone who would like to know more.

In the world of craft fairs, this is the busy season.

Marian Davis and her husband travel from show to show, selling their handmade wreaths, scarves, mittens, and other decorations. They'll be on the road every weekend for the next few months.

"To restock from one Saturday to another takes me five days. To keep up this schedule, I don't know that I could have done that two years ago," Davis said.

Marian has spinal muscular atrophy, a form of muscular dystrophy. She was diagnosed when she was quite young but went on to live a normal, productive life, much of it spent in the field of education.

"Walked most of my life until probably about 15 years ago, I started using a scooter to get around, because I was falling and unable to get up off the ground."

Geisinger's Dr. Scott Friedenberg says just a year ago, doctors were treating muscular dystrophy by mostly therapy and symptom management.

"But now we really can pinpoint genetic abnormality with a medicine that repairs it or fixes it to some degree," Dr. Friedenberg said.

Dr. Friedenberg explained Marian's body doesn't make a certain protein. Thanks to advances in genetic health care, they can inject medication into her spinal fluid, activating her nerves to create that protein. In other words, not just managing the disease but fighting it.

"This is really the first time in the history of any disease therapy where we can take a patient who has an inherited disease and check their genetics and give them a specific therapy to improve their life and improve their strength," Dr. Friedenberg said.

Dr. Friedenberg is part of a summit happening at Geisinger next weekend that will detail advances in treating neuromuscular diseases.

You can register for the summit and get more information here.

It's open to the public but you do need to register by this Thursday.

Marian Davis won't be there; she has potential crafty customers to find.

"My arms are stronger, my body core is stronger, and my energy level is much better than it has been in, I can't even tell you how many years," she added.

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