Category: Getting to Know You
Hello all, as you can probably tell from the name that I've picked, I do a lot of medical research. most of it is genetic in nature, but sometimes I do other more normal things. I enjoy writing, singing, and helping peiple. most recently, I have come to know a very special young girl who happens to suffer from adrenoleukodystrophy. She has taught me so much, and it is a shame that she won't be here on this earth for much longer.
What is adrenoleukodystrophy?
Adrenoleukodystrophy is a rare genetic disorder that strikes children between the ages of 4 and 13 years. It is caused by lack of a protein called ALDP, or ALD protein. This is due to mutations in the gene that codes for ALDP which is located on the x-chromosome.
symptoms of adrenoleukodystrophy include, blindness, mood changes, difficulties in walking and talking, hearing loss, problems with swallowing, and muscle waisting. death usually occurs 1 to 10 years after the child has been diagnosed.
ALD mostly affects only boys.
I take it then that it's x-linked resesive?
I had a close close friend who died of that 3 years ago
its a terrible disease and can affect both girls and boys.
Louis's death was a release