The infantile form of Pompe disease is extremely rare and readily available information for parents and healthcare professionals is scarce.
The natural history of the disease shows that most babies with infantile Pompe disease used to die before their first birthday from cardiac/respiratory failure. With the introduction of an enzyme replacement therapy (ERT) the natural history of the disease can now be modified.
The aim of this booklet is to provide reliable, up to date information for parents, their families and professions involved in the care and management of these infants.
The complexity of this disorder is still not fully appreciated and research continues to find new treatments and improve outcomes. The information contained in this booklet may not give all the answers to your questions, but it is intended to provide a better understanding of the disease and how to manage it. Finally it provides links to useful resources and support groups
28 page booklet, full colour, saddle stitched.