In infantile-onset Pompe disease there is a complete lack of GAA enzyme, or such a small amount that it is undetectable. Symptoms appear in the first few weeks or months of life.
Coming home with your child
Coming home from hospital after diagnosis is a long awaited day for many families. Sadly, a few children with infantile-onset Pompe disease spend much time in hospital either with repeated admissions or lengthy stays. Often this is linked to infections or breathing problems.
Other children do not stay long there at all and are able to remain as an out-patient once treatment is going well.
Remember that your child will also be in touch with a local medical team and also your own family doctor for day to day needs and prescriptions sometimes.
It helps to ensure everyone has contact details for each other and that they know who is involved. Try to help the professionals to provide ‘joined-up’ care.
Communicating with large and diverse, specialised and local teams of medical staff can be a big challenge. In fact, most of our families say this is harder for them than meeting the physical care needs of their child.
Always keep good records and make sure you attend all the appointments needed or let people know you cannot attend. If you need help with transport costs or if getting to appointments becomes a challenge contact our Specialist Care Advisor for help.
Thinking about whether to join a medical trial
At some stage families might be asked to consider a medical trial for their child. Information about all trials happening around the world are available to search using key words such as ‘pompe’.
Some trials are for new physical therapies and treatments others are for completely new drugs or enzymes. Others test an existing, possibly well-known drug that was not previously used for this condition.
Some recent trials have looked into ways of improving how the body can use more of the enzyme replacement.
Guide for attending school
AGSD-UK has produced a guide for families with a child attending nursery or school in association with Sanofi Genzyme Ltd and Great Ormond Street Hospital.
Fun book for under 7s
Pompedoo is a short book we produced for families affected by Pompe disease and it can be obtained by contacting us. It is designed as an easy reading story for under 7s.