Fabry’s Disease

I was reading the online edition to the Bridgewater Bulletin, the newspaper from NS that I’m subscribed to, and found an interesting article. An old friend of mine, Richard Corkum, suffers from a rare disease (only 4000 cases worldwide) called Fabry’s Disease. He has become quite active in clinical studies and drug trials through a company in the US. He also built a website, fabrysociety.org. As the disease is genetic, other members of his family also suffer the disease to varying degrees.

From his site:

“What are the symptoms of Fabry’s disease?



Boys with Fabry disease usually have discomfort of the hands and feet with abnormal sensation (paresthesia) or burning pain by adolescence. Red raised lesions known as angiokeratomas occur on the skin and within the mouth. The ability to sweat is decreased. The cornea and lens of the eye become clouded.There may be painful abdominal crises. Renal impairment may require dialysis or kidney transplant. The kidney failure may cause hypertension. Heart function can be impaired.

Females with partial enzyme activity may not show any symptoms or only late in life. Impaired heart function may be their primary problem.”

Richard and his nephew, Jamie Hirtle, also suffering from Fabry’s, have been traveling to the US to participate in research. The drug companies and the American government have been footing the bill for them to take part. However, the Nova Scotian and Canadian governments do not cover treatment of this sort as it is rare and still experimental. Of late the two have been receiving bi-weekly transufusions of enzymes that have helped to reduce the symptoms of the disease.

Hopefully, once the trials are over, either the Canadian and Nova Scotian governments, or the drug companies themselves, will pony up the dough to keep Richard and Jamie going with treatment.

Good luck Richard. Activism for such a positive cause gives you nothing but good karma.