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updated: 2/18/2014 3:13 PM

Inverness woman's doctor helps her fight rare disease

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  • 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.

       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.

       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

  • Dr. Richard McDonough

       Dr. Richard McDonough
    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.

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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.

After she gave birth her symptoms would come back, which led some doctors to diagnose her with postpartum depression. Her condition was so bad following the birth of Katie three years ago that Palmer couldn't even pick up her newborn.

It was then that Dr. Richard McDonough, a family physician whom Palmer had been seeing since she was nine years old, began to suspect something might be seriously wrong. McDonough's hunch ultimately led to the Pompe diagnosis, one that Palmer notes often doesn't come for adults until they're in need of a wheelchair.

"He saved my life," Palmer said.

"She kind of makes me out to be a hero and I really am not that," McDonough said. "It was just me stumbling across something, to be honest with you."

While McDonough's discovery ended one challenge for Palmer, that of battling an unknown enemy, it brought on another -- the fight against Pompe.

Palmer receives regular regimens of expensive experimental drugs and keeps regular appointments with nine doctors and specialists who help her overcome whatever Pompe has in store for her.

The part of her treatment that she said her life "revolves around" is the regular doses of Lumizyme, which provides her with a synthetic version of the enzyme her body lacks. Every two weeks, the drug must be dripped into her intravenously for as much as four to five hours at a time, during which she is monitored by a nurse watching for allergic reaction.

Because Pompe is so rare, when Palmer was diagnosed in 2010 the treatment was only administered at Children's Memorial Hospital -- now the Ann & Robert H. Lurie Children's Hospital in Chicago.

For two years Palmer would leave her children with a friend to take a 7 a.m. train downtown. On a good day her long treatment would begin at around noon. She was often treated alongside children suffering from Pompe or one of its forms, an experience that she said was very difficult.

"It was so hard to be a mother and to be with those kids," Palmer said. "I didn't feel sorry for myself at all."

Palmer often would not arrive home until after the sun had set. Because the treatment brings out her symptoms for around a day, she said it was a difficult return journey.

After more than two years of those long days and difficult commutes, McDonough came to the rescue again. He went through a six-month certification process to be able to administer the experimental drug and worked with Advocate Good Shepard Hospital in Lake Barrington so that Palmer could receive the treatment much closer to home.

A month of Lumizyme costs $47,000, making it the most expensive drug administered at Good Shepherd by a wide margin.

McDonough said accommodating Palmer has been a team effort.

"The hospital has taken a bit of a hit to be able to allow her to receive treatment there," he said.

These days when Palmer goes to the hospital for a Lumizyme treatment, she sees not only McDonough, but friends, nurses and other hospital staff who stop by to say hello or wave passing by in the hallway.

"When you have a genetic disease," Palmer said, "having a support system is the most important thing."

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