pompe disease

[alypaly]

does anyone have any experience of pompe disease as my lovely neighbour has just been diagnosed with it.

her doc said not to go on the internet

I think she needs a new doc.

A rare disease like Pompe can be a very isolating experience. At the very least, the internet will put her in contact with others in the same boat.

The best place to start is www.pompe.org.uk

This is the website of the Pompe group of the Association for Glycogen Storage Disease. It produces good quality material and holds an annual conference. There is also a good e-mailing list called GSDNet which has Pompe patients from all over the world.

Above all your neighbour needs to find out about Enzyme Replacement Therapy, the treatment for Pompe produced by a major pharmaceutical company, Genzyme.

Well done you for being a good friend - let's hope it helps make up for her doctor...

thank you embraman....have you had personal experience of it or are you a doctor? i think her doc meant her not to google in case she really scared herself. thanks for the info about the website. I am sure it will help her as her disease is quite advanced already. She can hardly walk up the stairs without holding on to the rail and side stepping up. All her leg muscles have wasted and she is only 54. her husband is my sons godfather and i am so worried for them both. They only got married last year

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anyone else know anyhting about it