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11/04/08 09:36 - 56ºF - ID#46529

Scary start to the week

Monday morning my wife got a call from our pediatrician saying that our 2.5 week old son may have Cystic Fibrosis. I have heard of CF but I did not know what the disease was all about. So my wife called Children's Hospital (Obviously upset) and demanded that we get an appointment on Tuesday morning. For some reason Children's does the CF test once a week!!!! So we would have had to wait over a week. Googling the disease I see a lot of information about chances and the possibility of a lung transplant later in life.

This morning we went to Children's and got the test done. It was the first test he had to go through and it was tough. We had to hold each arm straight while they hooked up an electrode. That on top of him being hungary it was not a pleasant experience.

While we were waiting for the results the gene counselor sat down with use and explained a little bit more about this process and answered any questions we had. The first words out of her mouth were "Did your doctor explain how slim the chances are that Jack has CF?" WTF, I mean really you call use and tell us all this news and we are sick all night just to find out that the chances are slim. We spoke with a woman in the waiting room and she said they have done 700 tests at Children's for CF and only one has been positive.

The results came back negative for Jack. We were so relieved.

This does let us know however that Jack is a carrier of this gene that causes CF. Which means that my wife or I or both are a carrier as well. When asked why the OB did not test us for this the answer was simply that some do and some don't. Knowing ahead of time how simple the process is for adults I would recommend everyone ask their doctor to get tested before trying to have any children. It might save you from some scary experience like this. At least down the road Jack will be able to let his partner know that he is a carrier and they may be able to do the same. This is assuming that there is no cure.
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