file.newsgroup.med.57110 Maven / Gradle / Ivy
From: [email protected] (Deb Waddington)
Subject: INFO NEEDED: Gaucher's Disease
I have a 42 yr old male friend, misdiagnosed as having
osteopporosis for two years, who recently found out that his
illness is the rare Gaucher's disease.
Gaucher's disease symptoms include: brittle bones (he lost 9
inches off his hieght); enlarged liver and spleen; internal
bleeding; and fatigue (all the time). The problem (in Type 1) is
attributed to a genetic mutation where there is a lack of the
enzyme glucocerebroside in macrophages so the cells swell up.
This will eventually cause death.
Enyzme replacement therapy has been successfully developed and
approved by the FDA in the last few years so that those patients
administered with this drug (called Ceredase) report a remarkable
improvement in their condition. Ceredase, which is manufactured
by biotech biggy company--Genzyme--costs the patient $380,000
per year. Gaucher's disease has justifyably been called "the most
expensive disease in the world".
NEED INFO:
I have researched Gaucher's disease at the library but am relying
on netlanders to provide me with any additional information:
**news, stories, reports
**people you know with this disease
**ideas, articles about Genzyme Corp, how to get a hold of
enough money to buy some, programs available to help with
costs.
**Basically ANY HELP YOU CAN OFFER
Thanks so very much!
Deborah