Pompe Disease Guides

• What is Happening to My Child
• Pompe Disease Factsheet

• Pompe Connections
• Guide for Families
• Caring for a Pompe Infant

What is Happening to My Child?

Having a child diagnosed with Pompe disease is a frightening experience in itself. When a child suffers a cardiac or respiritory crisis and is rushed to the Intensive care unit the stress on the parents can be unbearable. This guide, written by Dr. Bruce Taylor, helps to explain what a child may be experiencing and what the medical team are doing to stabilise its condition. Hopefully this knowledge will help parents understand the situation and accept that the medical team are working in the best interests of their child.

POMPE Disease Factsheet

The POMPE Disease Factsheet may be printed for your own use or to pass to medical professionals, family or friends as an overview of the disease and an indication of the current UK situation.

Click to download PDF

POMPE Connections

The Pompe connections are a comprehensive series of leaflets produced by the International Pompe Association supported by an unrestricted grant from Genzyme.

Leaflets are currently available in six languages: English, Dutch, Turkish, German, Spanish, and French.

Topics covered include:

• The signs and symptoms of Pompe disease
• Getting the right care for Pompe disease
• Adapting to living with Pompe disease
• Breathing problems in Pompe disease
• Nutrition and dietary therapy
• Exercise and physical therapy
• Common Health concerns
• The emotional impact of Pompe disease
• Having children when you have Pompe disease
• Medical progress in Pompe disease
• Resources for learning more

The Treatment Edition contains information about Enzyme Replacement Therapy for Pompe disease:

• About Enzyme Replacement Therapy and Myozyme
• Finding a Treating Physician
• Indication, Effectiveness and Safety of Myozyme
• Preparation, Administration and Monitoring of Myozyme
• Treatment Precautions for Myozyme
• Practical Considerations and Supportive Management for Treatment with Myozyme
• The Cost of Myozyme
• Pompe Patient Information Collection
• Outcomes of Myozyme Treatment
• Resources for Learning More

Guide for Families

This guide was written by Kevin O'Donnell 12 years before enzyme replacement therapy for Pompe disease became a reality. It includes much useful information described in layman's terms so it will remain here until we can find time to rewrite it.

Click to download PDF

Caring for a POMPE infant

This article was written by D J Arne in 1994, 12 years before Enzyme Replacement Therapy for Pompe Disease was available for treating the Pompe infant. In most cases the advice it offers will not be required by parents and carers as early treatment with ERT resolves many of the untreated symptoms.

Click to download PDF