A Surprise Diagnosis Leads Patient to Run Marathon for Pompe Disease


by Paul McIntosh

Recently I went public about a life-changing condition that I have kept private for a while. Two years ago at the age of twenty-one, I was diagnosed with Pompe disease, a progressive and degenerative neuromuscular disease. I was diagnosed indirectly on account of follow-up after mononucleosis. My PCP discovered I had elevated AST/ALT levels, and he referred me to a gastroenterologist for continued monitoring. The high levels were sustained for more than a year, which led to a diagnostic workup for liver disease. All of these tests and procedures were normal, which then led to my referral to a hepatologist. During her testing, she discovered that I also had an elevated CK level. Thus she referred me to a neuromuscular neurologist because AST/ALT and CK levels can be concurrently elevated in diseases of the muscles. Upon the neurological exam, I showed weakness in several muscle groups – weakness that I had never noticed in daily life. This prompted a more extensive neuromuscular workup including an EMG, an enzyme assay, and a genetic test for Pompe disease.

The diagnosis came as a shock because the only muscular issues that I had been experiencing was daily back pain, which I contributed to exercise and a hard bed, not to a degenerative neuromuscular disorder. I continue to have back pain, but thankfully I was diagnosed before I experienced difficulties with walking or breathing, which are common complaints by many people who live with Pompe disease. It is truly a blessing that I was diagnosed and able to start treatment (enzyme replacement therapy) very early, before I exhibited severe manifestations of the disease. This treatment will hopefully slow the progression of Pompe disease. There is no cure, and although I have very little control over the disease prognosis, I am determined to remain hopeful and constructive throughout this challenge. I am sharing with you that I have Pompe disease in order to become an advocate for others with Pompe and to support them through a fundraising campaign.

I will run the Tobacco Road Marathon on 3/15/15 in Cary, NC, dedicating my race to everyone who is affected by this debilitating disease. I hope to raise both awareness for Pompe disease and financial support for the United Pompe Foundation, a non-profit that helps members of the Pompe community with their health-related needs and expenses. Please join me in the fight against Pompe! Your donation will immeasurably benefit and support others who suffer from this degenerative disease. You can read more about my story and donate to help support the cause at: https://www.youcaring.com/nonprofits/pompe-marathon/291775

“Together We Are Strong”

Filed Under: Insights, Patient Stories

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