This section tells you about the Pompe Support Team, and has information provided by them which will be of particular interest to newly diagnosed Pompe people.
Can I meet or speak to other people with Pompe disease?
AGSD-UK exists to provide support and information for members. We can put you in touch with others, individually or in a meeting. Contact our Advisor on 0300 123 2792. We only pass on personal contact details with express permission. We can locate someone relatively near to you for phone or face-to-face contact.
There are private and public Facebook groups as well, again contact us for more detail.
Many people, especially newly diagnosed, feel worried about meeting others. Remember that everyone with Pompe is different. There really are no useful comparisons because you don’t know when someone was diagnosed, what age, what treatments they have and whether they have other conditions as well.
What is the Pompe Support Team?
The team was formed by people with Pompe to offer personal contact and sharing of advice, especially but not only, for newly diagnosed people.
Will I have to give up work?
Managing energy levels and fatigue is a challenge. It might depend on what sort of work you do. A large number of people with Pompe work full-time or part-time and manage very well.
As much as Pompe disease is individual, so is the decision about whether you can work or not.
If you have questions about making work more adaptable for your needs and your condition AGSD-UK can help you.
What is E.R.T.?
Enzyme Replacement Therapy is, for Pompe disease, an infusion that is usually fortnightly. The infusion contains a replacement for the enzyme missing in the metabolism of people with Pompe. This can only be given by specially trained medical staff. Your Highly Specialised Metabolic Centre will explain more about this to you.
Can I choose which hospital I attend for reviews?
Yes you can. There are only eight Highly Specialised Centres. They see all patients who have Pompe disease (adult or children). This means that there is better, more informed treatment because everyone goes to one of a few centres. For example, this system does not exist in other countries such as Italy, so people there get much more variable treatment. The centres link to one another to share knowledge and experience.
You can ask to be referred to your preferred hospital and can also switch later on.
Can I go on holiday?
This will be an individual decision and might depend on how much planning you are willing to do and whether you have supportive friends and family.
Holidays and travel within the UK present few challenges. Some people who have greater physical needs look for adapted accommodation but the specific adaptations vary widely and do not suit everyone’s needs.
There are excellent websites and some specialist travel services available for people with a disability and AGSD-UK can put you in touch with them.
Children are likely to need a Certificate to Fly, this can be arranged with your hospital.
Travel insurance is likely to be costly. There are some specialist companies that include people with Pompe disease. The more equipment you use daily then the more planning is involved. MDUK have a guidance booklet on travelling with ventilation.
Airlines can offer some assistance, if alerted an advance to your specific needs.
The UK Community of people with Pompe disease includes many, many examples of long-distance travelling and studying overseas too. They are willing to talk to you and AGSD-UK can put you in touch with them. Contact us via the “Message us” form.
Can I study or travel overseas?
ERT has now been widely used for more than a decade so people having this treatment have learned to adapt around it. Your hospital will have a specialist service to advise on travel for longer periods or study abroad.
Sanofi-Genzyme, the company that makes Myozyme, also offers guidance on longer overseas trips. They produce a leaflet on ‘Travelling with ERT’.
I have Pompe disease, can I have children?
Speak to your physician and Clinical Nurse Specialist about family planning. You should be offered a chance to consult with a Genetic Counsellor who can advise you about this too.
We have several new mum’s who are members of AGSD-UK and they would be happy to be in touch and share their experiences. On the while they found they could adapt and cope well. ERT is not recommended during early stages of breastfeeding but can be given during pregnancy, again, subject to consulting with your physician.