One patient undergoes new treatment

BUFFALO, N.Y. (WIVB) - Last week at 5, we told you about a rare illness called Pompe's Disease. It's the subject of the new movie "Extraordinary Measures." Dr. Peter Ostrow has the story of one young patient who's undergoing a new breakthrough treatment at Women and Children's Hospital.

The movie "Extraordinary Measures" is about a rare progressive disorder called Pompe's Disease that usually begins in childhood. Matt Frain and his family know all about it.

"We realized that his motor skills weren't really there whan he was younger, to the point where pulling up and some basic things that a baby could do," said Frain.

Matt is missing an enzyme that's necessary for his muscles, and many other cells, to work properly. For the first 15 years of his life, there was nothing that could be done. But then some wonderful science happened.

Dr. Richard Erbe of Kaleida Health said, "Along comes the availability of the human enzyme, made in cells in culture in just the right way, and we can put this into a vein."

Matt said, "I started off in the experimental stages of it. I was one of the first few people to be actually able to do it."

Frain said, "It was intimidating. We were kidding with Matthew that you're a guinea pig. We knew that the potential was so positive for him if it went the way we were hoping and praying that it would go."

It worked. His strength and breathing improved, and he's started college. The enzyme dramatically slows the progress of the disease.

Dr. Erbe said, "So it's very important to find people early, and this kind of therapy can be used really from early childhood."

This story has an important message for patients and their families.

Matt said, "For someone who's actually struggling with a disease, you know, don't give up hope. There's always something that will come along. You've got family, you've got friends, and no matter what, you'll be okay."

I haven't seen the movie yet, but the enzyme gets great reviews.

Question: How common is Pompe's Disease? Can babies be tested for it?

Answer: There is a test, but right now it's not widely available for newborn screening. This is a rare disease, but there are several other disorders where children become weak. If a child develops trouble running, or climbing stairs, and stops participating in activities that require exertion, the child should be seen. Some of these disorders can be treated, and the sooner the better.