Adults living with late onset Pompe disease can be very different than children with the infant onset type of Pompe. It’s often an “invisible” illness and you can go years being misdiagnosed with more common ailments. The early symptoms are usually...
Life with Infantile-onset Pompe is never-ending! And why would you want it to end?! Our son Bruce was diagnosed in 2011 and what a ride it’s been ever since – each day brings new worries and fears but also it brings joy and peace, if you know where to look for it. Our...
My daughter Sophia was diagnosed with Pompe Disease at birth, based on the NY newborn screening. We were beyond devastated and had no idea what to expect or what Pompe even was. Little did we know, that it would be a difficult road ahead and our Pompe rollercoaster...
Without newborn screenings, at some point in my son’s life he likely would spend a decade (yes a decade) in declining health and search for a diagnosis. Teddy was among the first few infants diagnosed with Late Onset Pompe Disease through Missouri’s newborn...
