"Pompe disease is a rare genetic disorder inherited in recessive fashion, which means it affects both boys and girls," said Dr. R. Randy Howell, the board chair of the Muscular Dystrophy Association.
In simplest terms, the body is unable to break down glycogen or sugar, disabling the heart and muscles.
In the movie, Harrison Ford plays a composite character representing all the scientists and researchers who helped make it happen.
"What's been wonderful in recent years is that long research funded by MDA and others has led to the development of an enzyme which is now commercially available, that is life-saving for the infants," Howell said.
It was Crowley's company, Novazyme, whose technology eventually led to the enzyme replacement therapy that is now saving lives.
Pharmaceutical Genzyme bought Crowley's company and brought the drug Myozyme to market in 2006.
Crowley's children Meagan and Patrick are alive today because of it.
"Many of them are doing quite well because, as I mentioned, the majority of infants have a good response and adults who have later onset form found that they are able to walk easier and in many cases breathe easier," said Dr. Dwight D. Koeberl with Duke University Medical Center.
The Muscular Dystrophy Association provided funding for early research.
That money comes from across the country, raised through MDA outlets, including in Anchorage.
"But to point out the people in Anchorage who each year come out and who contribute to the research in that area to point out that indeed their contribution has made a difference and the disease has had a wonderful therapy development and they played a part in that," Howell said.
The breakthrough for Pompe disease won't help everyone who has muscular dystrophy, but after years of research and telethons, it gives them something equally important: Hope.
"Anytime there is a cure found in any of these muscle wasting disorders, it gives hope to everybody else," said Sandy Baker, the executive director for MDA Alaska.
Contact Megan Baldino at mbaldino@ktuu.com
