Late-onset Pompe Disease - Delayed Diagnosis is Common for This Rare Disease
At the late-onset Pompe disease patient clinic recently held at Duke University, we talked with Karen Kacures about the delays in getting her rare disease properly diagnosed.
As Karen explains in this video, she was not diagnosed until she was 46 years of age and in 20/20 hindsight, she now knows that she had the symptoms of Pompe disease for at least 15 years prior to the diagnosis. Her diagnosis finally came after she had respiratory failure and spent 11 days in the hospital.
Since her diagnosis, Karen had become a vocal advocate for the Pompe community and likes to ‘pay it forward’ by helping newly diagnosed patients to navigate the various ways, include enzyme replacement therapy, to stabilize the condition.
About Pompe Disease
Pompe disease is a rare lysosomal disease that may present in childhood (early-onset) or in adulthood (late-onset). In both cases, the disease is due to a deficiency in the enzyme alpha-glucosidase (GAA). Symptoms vary greatly in this population but can be severe and ultimately deadly in the early-onset type. Patients with late-onset Pompe disease will often grow up being able to walk but begin to lose muscle strength as they age. Many of these patients will require technology to help them be ambulatory.