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Tuesday, April 11, 2017 8:22 am EDT

Jared's Story

Like many people living with a rare disease, Jared’s journey to find out he has late onset Pompe disease wasn’t exactly an easy one. In fact, Jared describes it as a “freak accident.”

Around the time Jared was in high school, a doctor decided to run some bloodwork during a check-up, revealing he had elevated liver enzymes. The doctor treated this issue but the problem was not resolved and Jared spent the next several years seeking medical help and advice from a gastroenterologist. This didn’t work either. Jared explained, “I knew deep down that something was wrong, the doctors didn't seem to be making much progress.”



Jared continued his search for answers until he finally made an appointment with a neuromuscular disease specialist who suspected he had Pompe disease.

What is Pompe disease?

Pompe disease is a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA) affecting an estimated 50,000 people worldwide.

Thrilled to finally make some progress with a diagnosis, Jared decided to take this information to a local MDA clinic neurologist. It was then that he was lucky to find someone familiar with Pompe disease. Jared explained, “I found a very astute, young doctor who had recently seen Pompe patients. It was fresh in his mind and he was able to quickly diagnose me…It was really just a matter of finding that right specialist that was familiar with Pompe disease.”

Jared explained the emotion he felt when he finally received a diagnosis. “You want to give them a hug...It was empowering….and it helped give me confidence. At least now I didn't have to struggle so much psychologically.”

Looking back Jared recalls that he had symptoms as early as fourth grade. “I first entered the clinic in 1994. I was diagnosed in late 1998…The ultimate goal, of course, is you want to be strong, healthy; you want to have a normal life like everybody else.”

These days Jared doesn’t have to spend his time researching what disease he has. Instead he focuses on living a full life. “Ideally I would like to have a family and possibly kids. We have to keep pushing, stay active and get in touch with other patients…I see a bright future for [Pompe patients].”

 

Last Updated: 4/11/2017
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