Harelipfrog

Friday, July 15, 2005

Niemann-Pick's Disease - For Kate's Sake

One of the people that I work with has had both of her daughters diagnosed with a very rare genetic disorder.

Niemann-Pick Type A and Type B (N-P A&B) are the two variants of a very rare genetic disease. Niemann-Pick Type B probably occurs once in a million people. This estimate is based on reported cases, and many go unreported and undiagnosed because of its obscurity. Everyone has two sets of genes, and as long as one of each set is healthy, the existence of a faulty partner gene will not result in illness. In this type of disorder, the father and mother each carry a defective gene which is recessive. Once parents who each have a bad gene conceive a child, that child has a 25% chance of getting two bad genes and having the disorder.

More here.

If you could take a minute to read about it, and do what you feel best I know that Kate and Caroline's parents would appreciate it.

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