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.
Getting the right information
By the time a baby is finally diagnosed he or she might be quite unwell. Parents and family members will be experiencing the distress of seeing their child in hospital as well as going through many different tests.
If you are now in this situation we can put you in touch with a family who knows what you are going through and is willing to talk about their experience. Contact with us via the “Message us” form.
AGSD-UK cannot give you medical advice, but we can ensure you know the best places to seek it.
When everyone who loves and cares for a child is trying to absorb the news of the diagnosis, there are also many decisions to be made.
There is so much information to take in, a lot of it can be rather technical. See our glossary for an explanation of some of the terms.
If you are researching and reading about infantile-onset Pompe disease, it is important to remember that a great deal of the information relates to a time before 2006 when there was no treatment available in the UK.
The medical professionals giving support for this rare condition are experts. They also communicate with other experienced teams to provide the best possible help they can for your child. Knowledge about infantile-onset Pompe disease is growing all the time.
What is a multi-disciplinary team?
A wide range of professionals could be involved with your child’s care representing many different disciplines. At times they will need to meet to liaise between their disciplines.
There will be many appointments, assessments and tests. Families who have gone through this recommend starting early with keeping records, making notes and having a file or folder in which all the important documents can be kept. This also helps to ensure you have names and contact details for everyone involved.
Living life with a child who has infantile-onset Pompe disease
Around the UK there are families with one or more children living fulfilling and happy lives with infantile-onset Pompe disease; going to school, achieving milestones and enjoying life.
Any child with this condition is a child first and foremost.
What we do know is that everyone with Pompe disease varies from each other. It is not wise to make too many comparisons. Since a treatment was introduced widely in around 2006 there is a much better prognosis than before.