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Hi, I am sorry you are going thru this and I am very relieved that Carmen is going to be OK. She is just precious!
I am going to try to answer your question but absolutely do not want to scare anyone. I am actually concerned that the prevalence of rare diseases in Guatemala is not being addressed by adoption agencies. From what I understand, Guatemala seems to have an increase in autosomal recessive diseases, probably because of marrying too close to family lines. For example, if a man and woman live in a small village and marry only within that village, eventually the genes are too closely matched and diseases start appearing (i.e. Eastern European Jewish communities have seen increased prevalance of rare diseases and also the Amish communities). I think the reason we are seeing an increase in Guatemala is because we are adopting these children into the U.S. and they are being diagnosed. I am 100% sure that other countries with isolated populations have the same issues but the children are often undiagnosed.
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Mommy to Lauren and Carmen, my Guatemalan babe diagnosed with Tay Sachs, AB Variant, October 15, 2007
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