Thrive by IU Health

June 03, 2021

Rare Disease Treated at IU Health; Can Take Years to Diagnose

IU Health Simon Cancer Center

Rare Disease Treated at IU Health; Can Take Years to Diagnose

By IU Health Senior Journalist T.J. Banes, tfender1@iuhealth.org

At first, there were vague symptoms, easily masked by other ailments. For nurse Michelle Ayres, it started with fatigue, shortness of breath, and muscle weakness.

That was in 2006 when she was pregnant with her third son, Will, now 14. She is also the mother to Michael, 18, and Andy. 20. It became harder and harder to keep up with her sons and their active lives.

“I had so much trouble walking, it was like I was a staggering drunk all the time,” said Ayres, 55. “I was falling all the time and didn’t have the strength to get back up.” She also couldn’t breathe if she slept on her back.

In her search for answers, Ayres visited a vein specialist who diagnosed her with “nurse’s legs” – an indication that she spent a lot of time on her feet. By December of 2015, she could no longer work at her job in urology. By January of 2016, she was in the ER and the next thing she knew she was intubated. She went into respiratory failure and was in a coma. A series of tests followed including a spinal tap, EKG, and MRI. In the end it was a muscle biopsy in her right shoulder and right thigh that led to her diagnosis.

The label for her illness is “Pompe disease.” The inherited disorder disables the heart and skeletal muscles. An estimated one in every 40,000 births is impacted by the disorder, caused by mutations in a gene that makes an enzyme called “acid alpha-glucosidase (GAA).” Ayres spent two months in a rehab specialty hospital with a tracheostomy. Her lungs were so damaged she couldn’t breath and her muscles were so weak she had to relearn to walk.

She will never forget the day she got the call about her diagnosis.

“The doctor was in a great mood. He said I had Pompe disease,” she remembers. Like many people, Ayres had never heard of the disease that had evaded doctors. “It’s like the only form of muscular dystrophy that is treatable but not curable. It’s so rare that there are only a handful of hospitals in the state that do the treatment,” said Ayres, of Fishers.

That’s when she met IU Health Dr. Cynthia Bodkin, who specializes in sleep medicine and neurology. In April of 2016 Ayres began receiving enzyme replacement therapy at IU Health Simon Cancer Center. She comes every two weeks for five-hour infusions.

Ayres receives enzyme replacement therapy by nurse Cindy Dicarlo

As she recently received an infusion by IU Health nurse Cindy Dicarlo, Ayres said, “This has been a life changer. Dr. Bodkin is the best. As a nurse I have been around a lot of doctors and one of the things I like the best is that she responds quickly to my questions and concerns.”

Through research of Pompe disease, Ayres has learned that both parents must be carriers and there is both adult and infant onset of the disease. She knows her parents are carriers, and her sister was also diagnosed with the disease. In time, she will have her boys undergo genetic testing for the disease.

Since beginning the enzyme replacement therapy, Ayres says she can now sleep on her back and has joined an on-line support group. She eventually hopes to get back to a normal routine of riding her bike and joining a Sunday brunch group.