has any one heard of this a few family members have it ? possible hubby could as well , they are saying both parents must have had to have it as well. anyone help please thanks blu
hi, I have lgmd2a so this is my primary field of interest but I have heard that company GENZYME is making some progress in pompe. you can check it out on their pages..hope this helps..
best regards
Thank You So Much For Your Help Much Appreciated , Hubby Is Going To Talk To His Dr.@ Va Monday See What They Have To Say / Offer And See If They Will Some Lab Work. Take Care Blu
Pompe's disease is recessive inheritance. That means both parents must be a carrier of the faulty gene for the child to have it. This is why people that are apparently healthy can pass it to a child. The child gets both bad copies and exhibits the illness. The parents only have one bad copy (and one good copy of the gene and usually won't exhibit the symptoms).
I don't want to get your hopes up but Pompe's disease was big news on the Jerry Lewis Telethon last Labor Day. A treatment has proved to be somewhat successful for Pompe's. This is the first time a Muscular Dystrophy has been successfully halted and actually reversed in humans. I think they administer the treatment through periodic IVs. But I'm not 100% sure on how they give it.
You can probably learn more about it on the MDA website under the Research tab. Also have your husband consider contacting your local MDA Clinic. They can really help. Best of luck,
pompe disease 
a few family members have it ? possible hubby could as well , they are saying both parents must have had to have it as well. anyone help please thanks blu
Linear Mode
