Book and coffee on table

Living with Pompe Disease<br />Shaylee’s Story

Shaylee isn’t your average seventeen-year-old. But it’s not just the fact that she has Pompe disease, a rare, inherited, genetic disorder that sets her apart. She’s exceptional despite her rare diagnosis.

At the age of 12, Shaylee decided she wanted to join the local basketball team. When she began experiencing weakness in her hips and legs, making running difficult, she knew something was not right and sought medical attention to try to get answers. Tests eventually revealed she has Pompe disease.

Watch Shaylee’s Story

While living with Pompe disease takes up a lot of Shaylee’s time and makes some things difficult for her she hasn’t let her diagnosis keep her from doing the things she loves like playing the piano, managing the local basketball team and playing tennis. Shaylee explains her motivation to continue to stay active by saying, “I have always felt like you needed to live life, but at the same time put urgency to it because you never know if today’s the last time I can do something.”

With college in her future, Shaylee has already started thinking about her future and how to manage her care regime as an adult. She says, “I've already started to talk to my doctors about how my transition of care will look like. When I figure out where I'm going to college, they will help me find doctors, we'll go from there about getting physical therapy and other things.”

Shaylee also recommends that anyone living with a rare disease doesn’t depend on doctors alone. She said, “Trust your doctors, but at the same time do research yourself. Find the published articles that have to do with the questions you're asking. And if there's not articles, start asking around the community.” This community includes connecting with other Pompe patients as well as her large support system of family and friends.

Shaylee explained, “Find a network of Pompe patients, but don't completely just surround yourself with Pompe patients. You need a support system outside. Pompe doesn't define you. It's only a small portion of you, and it doesn't matter how big or small; you can make a difference.”

Learn more about Pompe disease.

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