Following are links to information yourselves and your physicians about management of Pompe disease:

1 ) You can't get anything

better than the following document written by the American College of Medical Genetics about diagnosis and management of Pompe

disease. http://www.acmg.net/resources/policies/Pompe_Disease.pdf

2 ) These are the minimum recommended tests and exams proposed in the context of the Pompe Registry .

Minimum recommended schedule of

assessments.https://www.lsdregistry.net/pomperegistry/hcp/partic/mater/preg_schedule_of_assessments.pdf

4) Diet: Dr Alfred E. Slonim is the specialist for the Pompe diet:

http://www3.interscience.wiley.com/cgi-bin/fulltext/113388077/PDFSTART

5 ) A suggestion : Genetics clinics deal with rare disorders - and particularly for lysosomal storage diseases like Pompe - metabolic genetics

clinics. So, if you feel that you are not getting the proper follow-up, you can look up a genetics clinic near you through the following website:

http://www.cagc-accg.ca/component/option,com_sobi2/Itemid,30/

3) Supportive therapies. You should have a team working with you: physical therapists,

ccupational therapists, etc.Here is some information from the Genzyme Website:-Physical

therapy:http://www.pompe.com/healthcare/treating/therapies/pc_eng_hc_physical_therapy.asp

-Occupational

therapy:http://www.pompe.com/healthcare/treating/therapies/pc_eng_hc_occupational_therapy.asp

-Dietary

therapy:http://www.pompe.com/healthcare/treating/therapies/pc_eng_hc_dietary_therapy.asp

-Respiratory

therapy:http://www.pompe.com/healthcare/treating/therapies/pc_eng_hc_respiatory_therapy.asp