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We provide you with articles on brain science, timely topics, and healthy living for those affected by neurologic challenges or seeking better brain health.  

By Paul McIntosh

Raising the Profile of the Rare Pompe Disease

Paul McIntosh, 24, a second-year medical student at the University of North Carolina School of Medicine, explains why he's raising funds and awareness for Pompe disease.

"I was diagnosed with Pompe disease [a rare, genetic condition that affects the heart and skeletal muscles] in the summer of 2012, when I was 21, in a very indirect way. Two years earlier I had come down with mononucleosis, and during a routine workup the primary care physician noticed that my liver enzymes were elevated. When they remained high even after I recovered, I visited a liver specialist, who found that my creatine kinase [a muscle-specific enzyme] was also elevated, and she referred me to a neuromuscular neurologist.

At the time, I hadn't noticed any symptoms other than lower back pain. But the neurologist tested my muscle strength and found that my neck, shoulders, and hip flexors were weak. He also did an electromyogram, which revealed myotonic discharges [abnormal electrical activity] in my muscles that run parallel to the spine. That's when he ordered a genetic test for Pompe disease, which confirmed the diagnosis.

Paul McIntosh, center, and fellow runners celebrate at the finish line of the Tobacco Road Marathon. UNITED POMPE FOUNDATION

It took me almost a full year to come to terms with my condition. I started going to church again and putting more effort into my relationship with God. I also began to reach out to others with Pompe disease through Facebook support groups. It's been really nice to have that community.

I definitely have concerns and fears about the future, but I'm optimistic. I've been on enzyme replacement therapy since about six months after I was diagnosed and now my back rarely hurts. And I still exercise. In fact, I ran the Tobacco Road Marathon in Cary, NC, on March 15 on behalf of the United Pompe Foundation and helped raise more than $14,500. It was an amazing experience. I received so much encouragement and support, not only from friends and family but also from people in the Pompe community.

I want to continue to be an advocate. I feel I have a great opportunity to help other people with the disease, not only as a friend but also as a patient and a future physician."

—As told to Rebecca Hiscott

FIND OUT MORE: Listen to our interview with Paul McIntosh and how he copes by raising research funds and awareness.