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Barrington mom battles rare disease

Credits family, doctors for help staying healthy

Published: Saturday, Jan. 25, 2014 10:30 p.m. CDT
Caption
(Stephanie Kohl for Shaw Media)
Melissa Palmer (center) with (from left to right) Anthony Savino, orthopedic physician with Midwest Bone & Joint Institute, Edwin Fajardo, physical therapist with Advocate, nurse Donna Pacholski, husband Shawn, Dr. Richard McDonough and Azmey Matarieh, cardiologist with Advocate.

BARRINGTON – When Melissa Palmer began experiencing muscle weakness to such an extent that she wasn’t able to lift her baby, she knew there was something wrong.

So the energetic Barrington mother of five visited Dr. Richard McDonough, her primary care physician of 27 years. After a series of tests, McDonough diagnosed her with late-onset Pompe disease.

Pompe disease is a rare, inherited disorder that disables the heart and skeletal muscles. When it is diagnosed later in life, the primary symptom is muscle weakness.

“It was very unlike her to be weak and unable to do things,” McDonough said of Palmer.

McDonough said late-onset Pompe disease is rare, affecting about one in 57,000 people. To put its rarity in perspective, based on the population of the Barrington area, Palmer could be the only one in the 60010 zip code with the disease.

“This is probably the only time in my career I’ll see this illness,” McDonough said.

For the first two years after she was diagnosed, Palmer would travel from Barrington to Children’s Hospital (now Ann & Robert H. Lurie Children’s Hospital) in Chicago for infusions to treat the disease, as they were one of the few facilities certified to provide the treatment.

Palmer said following her diagnosis, her life changed immediately because of her symptoms. However, her infusions have made her stronger and less fatigued and she no longer gets out of breath simply walking up the stairs.

Once McDonough got the proper certifications, Palmer was able to move her treatments to Advocate Good Shepherd Hospital.

Palmer is dedicated to her treatments and receives them faithfully every two weeks. Her husband, Shawn Palmer, said the move to Advocate Good Shepherd has saved the family a lot of time and it has been a great relief for his wife to get her treatments closer to home. Each treatment keeps Palmer at the hospital for about six hours.

Although it’s a long day, Palmer said her oldest daughter, Taylor, 17, often visits with her in the hospital once she finishes her day at Barrington High School. The couple are also parents to Max, 14, Charles, 7, Sarah, 5, and Katie, 3.

McDonough said as long as Palmer continues to get her infusions as scheduled, her life expectancy is normal. Her team of doctors monitors for reactions to the infusions, and respiratory and heart issues.

Not one to let her disease hold her back, Palmer still attends as many of her children’s events and activities as possible.

“My kids and my husband are my motivation in life,” Palmer said. “If I didn’t have them, I wouldn’t be able to function.”

Palmer has quite the team at Advocate Good Shepherd Hospital. In addition to McDonough, she is also treated by Anthony Savino, an orthopedic physician with Midwest Bone & Joint Institute, Azmey Matarieh, a cardiologist with Advocate, Edwin Fajardo, a physical therapist with Advocate, and nurse Donna Pacholski, who has known Palmer for 17 years.

“A lot of people with these diseases don’t want to admit they can’t do everything and Melissa tries to do everything,” Pacholski said.

Described by her team of physicians as strong-willed, determined and independent, it is no surprise Palmer has set some serious goals for herself.

“My goal is to be walking at my daughter Katie’s wedding,” Palmer said.

Palmer said McDonough “saved her life” by catching the disease and beginning treatment right away. Her medical team is in agreement that if Palmer continues with her treatments and maintains a regular exercise routine as determined by her doctors, she should be walking at her 3-year-old daughter’s future wedding.

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