Pompe Disease Awareness

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Dr. Barry Byrne… Medical Geneticist- and Director of the University of Florida Powell Gene Therapy Center joins us on Access Health to raise awareness of a condition that is rare as well as life-threatening and is notorious for eluding a proper medical diagnosis sometimes for decades. It’s called POMPE (pom-PAY) Disease and it can be deadly especially if it’s not diagnosed. Pompe Disease is an inherited neuromuscular disease that causes buildup of GLYCOGEN in the cells and the accumulation of glycogen in certain organs and tissues, especially MUSCLES, impairing the patient’s ability to function normally. Pompe occurs in 1 in every 40,000 people in the U.S. and is considered a rare disease. Many Pompe symptoms are common to other muscular diseases such as Muscular Dystrophy which leads to an extremely high mis-diagnosis rate for Pompe sufferers and what can become a long journey for patients looking for answers. We’ll speak to a Pompe patient who has made it her mission to share her story and spread awareness as well as a Father who began as a caregiver and is now an active advocate for the Pompe community. Dr. Byrne will also share with us news of a Newborn Screening panel that can help parents who carry this gene get answers within days of birth. There is hope and treatment for Pompe-the answer is awareness.