Pompe Disease is rare, and very difficult to diagnose, as many patients have varying symptoms. It can present a few weeks from birth or later in a patients 40's, onset is varied.
Early diagnosis and treatment are vital to ensure the best outcomes for patients. The longer diagnosis is delayed the more muscle damage is being done.
It is critical for parents who note that their children are not meeting milestones, or who are having difficulties, to continue to press for an early diagnosis.
Pompe is a progressive disease but there is an approved treatment that can slow or stop the progression. If you are experiencing persistent symptoms, talk to you GP about Pompe Disease.
