A rare malady, but hope lives; Woman fighting Pompe disease with enzymes, diet and exercise.


Byline: Bill Fortier

CHARLTON - Debra A. Beaudette, 52, knew something was wrong about 17 years ago.

She was outside, working with young children at the Capen Hill Nature Sanctuary.

"I was walking in the woods with some 7-year-olds, and I kept falling. I was falling a lot," she said recently in her loft apartment at 39 Oxford Road.

She eventually sat down, and she knew she had to visit a doctor when she couldn't lift her legs off the ground. She had the same inability later at home, when she couldn't get her feet off the floor while she was seated.

Ms. Beaudette went to UMass Memorial Medical Center in Worcester, where it was determined she had contracted late-onset acid maltase deficiency, more commonly known as Pompe disease. People with Pompe disease lack an enzyme in their blood that breaks down glycogen, which is converted into energy needed for muscles to function. The rare disease, which is hereditary, is seen in about one in 40,000 births.

People with medical conditions frequently share their experiences with others who have the same thing, but Ms. Beaudette said late-onset acid maltase deficiency is so rare there aren't enough people locally to have a viable support group.

Pompe disease has received attention in recent weeks with the release of "Extraordinary Measures," a movie starring Harrison Ford and Brendan Fraser about research to find a drug to treat the affliction. One of the companies in the movie is based on Genzyme Corp. of Cambridge, which manufactures three enyzmes that Ms. Beaudette has used in the past five years to combat her condition.

Genzyme spokesman Lori Gorski said the company is glad to play a role in a movie that makes people aware of Pompe disease and how it can be treated.

Ms. Beaudette and her mother, Beverly A. Beaudette, said they hope the movie and efforts like theirs will help put the spotlight on a medical condition that has changed the Charlton woman's life.

But Ms. Beaudette has not yet seen the movie.

"I'm not sure I can," she said. "It does have an upbeat story to tell, but this is my life they're showing and I'm not sure I can handle it."

Ms. Beaudette, whose father, the late Robert Beaudette, was a selectman in Charlton, is the single mother of 24-year-old twins, daughter Arianne and son Jaren, and a 27-year-old son, Tauren.

Ms. Beaudette said her children have not been tested for the disease.

The vivacious, artistic woman designs and makes jewelry and has recently discovered that she can...

To continue reading