Doctors have developed a lifesaving treatment for a rare form of muscular dystrophy called Pompe disease.

Pompe is an inherited disorder--both parents have to have the defective gene, which is not a common thing. Pompe is a rare and fatal nerve and muscle disorder caused by the lack of an enzyme which breaks down sugar—glycogen--in the body.

The glycogen deposits in the muscle fibers instead, and destroys them

Doctors have developed a lifesaving treatment for a rare form of muscular dystrophy called Pompe disease.

Pompe is an inherited disorder--both parents have to have the defective gene, which is not a common thing. This rare and fatal nerve and muscle disorder is caused by the lack of an enzyme which breaks down sugar—glycogen--in the body. The glycogen deposits in the muscle fibers instead, and destroys them. Children born normally at birth gradually deteriorate until they can’t breathe and then die.

It was as if Megan Assink, who’s now three and a half, was born with a death sentence in her tiny palm, although at the time, her parents didn’t know it. Her sister Kelsey was already dying from Pompe disease. At Megan’s young age of six weeks came the bad news. The disease was attacking her heart muscle. Her sister Kelsey then died a year later from respiratory muscle failure. Megan was headed down the same road.

“Historically the prognosis for Pompe has been dismal. The children uniformly would die by the time they reach the year of age,” says Dr. David Freyer, Megan’s pediatrican. But there was hope brewing in research labs.

A new experimental treatment, Myozyme, is the first answer for Pompe patients, in New York and other places. It replaces the missing enzyme and halts the muscle destruction, allowing them to return to normal.

Megan was one of the first enrolled in clinical studies. She received her first dose in March of last year. Soon after, her cardiologist was astounded at the heart’s appearance on echocardiograms.

“In the course of the treatment her heart has normalized. You just don’t see that sort of thing in medical cases, and he was so so happy,” says her father Greg. Dr. Freyer says, “I think the thing we’ve seen improve most dramatically is her lower extremity strength.”

“Later in March she started walking first with the walker and then took off,” remembers Deb Assink, Megan’s mom. Not only was she walking, she was also climbing and even doing somersaults.

And now, she is starting to speak. She couldn’t before because her tongue, a muscle, had grown so large.

“Even though she’s very young, under five years of age, she’s already lived longer than other children ever would have without this type of therapy,” states Dr. Freyer.

Deb puts Megan’s recovery into perspective. “We have lost a daughter to this. To be able to see Meghan do what she didn’t is thrilling. You can’t ever give up, you have to just always believe.”

The experts say it’s unclear what the long term course is going to be, how long the benefits will last, if not as long as she lives, and what Megan’s life expectancy is going to be. But they say it’s clear that those like Megan who are responding are clearly living not only longer, but much better.

The company who makes the drug, Genzyme, filed for FDA approval in July.

For more information, go to www.pompe.com.

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