Friday, March 12, 2010

Team CF

When I saw that Team CF was putting together a national 'club team' I couldn't wait to apply. I'm a family practice doctor and have treated many peolpe with cystic fibrosis. About 15 months ago, my 1 year old stopped gaining weight(we call it 'failure to thrive'). I was living in a small farm town in Illinois and was my kid's doctor. Subsequently I was stuck trying to figure this out. Eventually we found that he wasn't absorbing his food and nutrients. One of the differential diagnoses for this is Cystic Fibrosis. I ordered the gene mutation test thinking it would be normal, but it wasn't. It was positive for one copy of the CF gene. Usually a person needs two copies of the CF gene to have severe disease but some people have clinical problems with one copy. The confirmatory test for this is called a sweat chloride test and if your sweat is too salty then you have clinical disease. So I had to order this and it was scheduled for two weeks later. For two very long weeks my wife and I prepared ourselves for the worst, we studied the disease process as well as the politics of the research into a cure. The test came and went and my son does not have active disease but is a carrier. It was a great relief, but for two weeks I felt the frustration that thousands feel every day. This is why I'm racing to raise awareness of CF.

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