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April 17, 2005

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Ann Turner

Thomas Shawker has a good book on the topic, "Unlocking Your Genetic History," with lots of practical tips and examples that are interesting from a genealogical standpoint. For example, a certain mutation for familial hypercholesterolemia found in South Africa and Western Canada can be traced back to a village in the Netherlands.

He says our goal should be "to account for every descendant from at least our four grandparents, and ideally, from our eight great-grandparents."

Joyce

It is very true that you can find genetic maladies and the meaning of your illnesses through genetic research. This recently happened to me at a trip to the dermatologist. He noticed a rash on my face which I have had for many years, that is barely visible. My father had it and so did his twin brother. My uncle had it the worst of all, and also had 3 children who were all severely retarded. Naturally I did not make any connection until my dermatologist confirmed that the rash is a sign of Tuberous Sclerosis. This disease is the result of 2 malformed genes, which was not known until the mid-1970's. The symptoms include retardation, seizures, Crohn's Disease, calcium spots on the brain, leaf-shaped birth marks, as well as white confetti-like spots on the skin. I had seizures as a child and Crohn's Disease as an adult, as well as a leaf-shaped birth mark on my leg, and found out from my neurologist that my children and I also have calcium spots on the brain. Both my children have had seizures as well. My father told me when I was an adult that he had a younger sister who died at an early age of many different maladies and also had seizures. Through my geneology research I found out that she died at 5 years of age from peritonitis from Crohn's Disease. My father could never understand why I had developed Crohn's as a child, stating that "no one else in the family ever had such a thing". The discovery of Tuberous Sclerosis by my dermatologist ties all my various symptoms together, as well as some that my children were born with. He also alerted me to the fact that the malformed genes in this disease are passed on by only one carrier to their offspring. As a result, I have now written a medical history of our family for my two children to keep handy, since they can pass this disease along to their children.

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