Rare disease specialist // Drug Repurposing

Rare disease specialist

Melissa Palmer, who's battling the rare Pompe disease, discusses her treatment with Dr. Richard McDonough, who diagnosed her as having the potentially fatal genetic condition. "He saved my life, " Palmer says.

Bob Chwedyk | Staff Photographer

Melissa Palmer battles the rare Pompe disease with an experimental infusion treatment. Thanks to the effort of her longtime family physician, Dr. Richard McDonough, she's been able to receive the treatment closer to home at Advocate Good Shepherd Hospital in Lake Barrington.

Dr. Richard McDonough

Melissa Palmer battles the rare Pompe disease with an experimental infusion treatment. Thanks to the effort of her longtime family physician, Dr. Richard McDonough, she’s been able to receive the treatment closer to home at Advocate Good Shepherd Hospital in Lake Barrington.Bob Chwedyk | Staff Photographer

Editor's note: This story has been edited to correct Dr. Richard McDonough's name.

If not for the neck brace Melissa Palmer is wearing these days following a recent surgery to keep her spine straight, an outside observer might not know she was any different from any other suburban wife and mother.

But what no one can see, and what not even she knew until few years ago, is that the 40-year-old Inverness woman has spent a lifetime battling a rare and potentially fatal genetic condition.

Now, however, her battle has become much easier thanks to the work of her longtime family physician, who she now says "saved my life."

Palmer is living with Pompe disease, a condition that affects one in every 57, 000 adults. It's caused by her body lacking an enzyme needed to process energy to power her cells and is characterized by progressive muscle weakness, especially in the legs and torso.

Although there are newly developed treatments for Pompe, there is no cure on the horizon and Palmer acknowledges there may come a time where her condition deteriorates despite all measures she takes to stay healthy.

"I just want to dance at Katie's wedding, " she said, referring to her 3-year-old daughter.

Palmer's disease went undiagnosed for decades.

As a child, she suffered general fatigue and was always out of breath, so much so that she could never blow up a balloon.

"The symptoms were vague, so despite my feeling that something was wrong I could never get a diagnosis, " she said. "I felt like many physicians were patronizing me."

Her symptoms continued into adulthood, with the only relief coming at a time when some women feel their worst - during pregnancy.

"I had boundless energy, " Palmer said. "I had more strength, felt more alert and knew that something was different."

Her doctors now theorize that pregnancy provided Palmer's body with the enzymes she needed - not from an IV bag, but through her unborn babies.

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