Pompe Disease: Alison’s Rare Patient Story

When Alison was just nine months old, she was diagnosed with a mild case of cerebral palsy. To this day, she and her doctors still aren’t certain if that’s what she had or if the symptoms she had then were just early signs of a rare condition that would appear later in her life: Pompe disease. Alison was slow to walk and underwent physical therapy as a toddler. As a teen, Alison also had elevated liver enzymes. She saw a specialist for years, but no issues with her liver were ever actually discovered.

At age 33, Alison sought out a neurologist for the first time:

“I started to have muscle weakness. My blood work revealed that I had muscle damage.”

In about four months, Alison would receive her Pompe disease diagnosis.

About Pompe Disease

Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body, and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of a certain enzyme. The disease is the result of a genetic mutation that appears on chromosome 17. Symptoms of Pompe disease vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary and it primarily only halts disease progression. To learn more about Pompe disease, click here.

After her diagnosis, Alison was presented with two options: begin treatment with the currently available medicine for Pompe disease, or join a clinical trial that was testing an experimental new therapy.

“I looked into this trial and I was pretty excited about the opportunity to potentially have access to a better treatment. I also had this sense of duty as someone living with a rare disease to help companies continue to develop in this space…and to do so, they do need participants.”

This drug, now called Nexviazyme, was recently approved for the treatment of Pompe disease by the US Food and Drug Administration (FDA), and Alison continues to use it to this day. Being on treatment is critical for Pompe patients like Alison, who otherwise will see their disease progress steadily and lose a lot of function. The treatment has slowed disease progression, and Alison says she has also seen improvements in some areas.

Alison also started a company that could benefit many rare disease patients that have muscle weakness that affects their walking or balance. Alison started trying to wear no-slip socks to help her walk more confidently on smooth surfaces, such as hardwood floors.

However, the socks were cumbersome and bulky; they also came in weird colors. Alison thought she could make a better no-slip sock. The company, called Gripjoy, produces elegant and practical no-slip socks that are better suited for everyday use. Ten percent of profits help support the Pompe disease community.

“Getting diagnosed with a rare disease is a very difficult experience, but it doesn’t have to mean that your life is over, so much good can come from it. The people I have met through my Pompe network are incredible friends that I would otherwise have never gotten to know. I also encourage patients to get involved in clinical trials. My experience was overwhelmingly positive.”

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