As a teenager, one of Allyson’s favorite hobbies was horseback riding, although she always wondered why she couldn’t vault onto a horse like her friends.
She just assumed it was because her horse was taller than the others, increasing the level of difficulty. As time passed and she continued to struggle, Allyson believed she just wasn’t good enough to be a skilled rider.
When Allyson got older she began to experience worsening, unexplained symptoms, including having trouble breathing and difficulty climbing stairs. This marked the beginning of a long, frustrating journey for Allyson, as she searched for answers and a diagnosis.
Allyson’s health continued to decline over the years until she was no longer able to run or lay on her back without becoming breathless. Her joints ached, she had no energy and the smallest tasks became difficult chores.
At the age of 45, after decades of visiting specialists, inconclusive tests and misdiagnoses, she was finally diagnosed with Pompe disease through a blood spot test.
“It was so depressing being shoved from one specialist to another, watching them throw their hands in the air and shrug their shoulders,” said Allyson. “By that stage I just wanted to be left alone to look after my young sons. Although it was not great to hear that I had Pompe disease, it was actually a relief to finally find out what I had and that I wasn’t making it up!”
These days Allyson spends less time searching for answers about her symptoms and more time getting back to living. She has even resumed her favorite hobby: riding horses.
Learn more about Pompe disease and the rare diseases we treat.
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