International Pompe Association

In the Netherlands all Pompe patients receiving treatment with enzyme replacement therapy received a medical letter from their treatment centre. This medical letter can be taken with you e.g. on. holidays, travel, stay somewhere else in your country etc. In case of need or emergency this letter can be shown to a physician in other countries or in another hospital. It can help to guarantee you an as good treatment as possible, also in case of unforeseen surgeries. It also makes sure you will have all the necessary medical phone numbers with you when travelling. Below you can find an example of such a letter. Please make sure you fill in the areas where XXX is standing. Please make sure it is stated well if you receive respiratory support or not. If you do receive respiratory support, it can be practical to add your ventilator settings in your medical letter as well.

The treatment centre of Pompe patients in the Netherlands approved the International Pompe Association to share the information in this draft letter with you. Please note that this treatment centre is not responsible for the health of Pompe patients not treated in their centre or to any changes you or any medical specialist makes to this draft medical letter. Its sole purpose it to serve as an example, that should be adapted to everyone's own personal medical needs, requirements and data.

Sample medical letter

INSERT Logo of your hospital or treating physician

Dear colleague,

Mrs/Mr XXX, date of birth XXX, has been diagnosed with late-onset Pompe disease. This is a slowly progressive myopathy that mostly first affects the limb girdle area. The patient is currently receiving enzyme replacement therapy with alglucosidase alfa (Myozyme®) in a biweekly i.v. dose of XXX mg/kg. The patient is treated at XXX. Her/His FVC is XXX Liter. The patient doesn’t use mechanical ventilation. In patients with Pompe disease and respiratory insufficiency it is important to avoid the use of the following medication:

  • Benzodiazepines and depolarizing muscle relaxant that may attenuate the respiratory drive.
  • If there is an indication for surgery in a patient with Pompe disease, in general, locoregional anesthesia is preferred over generalized anesthesia.
  • When generalized anesthesia is indicated, there is a possibility that the patients can not easily be weaned from the ventilator. This especially concerns patients with diaphragmatic weakness.

In case of an emergency, hospitalization or need for information contact one of the following team members:

  • Research physician: phone +XXX or e-mail XXX
  • nurse specialist: phone +XXX or e-mail XXX
  • During shifts you can contact the resident of the NAME OF YOUR HOSPITAL + PHONE NUMBER.

With kind regards...