8. A Visit with a Geneticist

gene-mdThe day finally arrived and I got to spend an hour or so with a doctor trained in Genetics/Genomics. I came prepared with my data and family tree, ready to discuss “The Shamberg Curse” and what to do about it.

As it turns out, most of genetic medicine is geared toward pediatrics, assisting parents who have children with birth defects or genetic disorders. However, the doctor I saw also worked with adults as well.

Simply put, the genetic testing currently performed (both by medical and commercial agencies) is mostly to look at the relatively-small set of variants that divide us. That includes Race, region of origin, body traits, and well-known genetic issues. The doctor explained that the type of analysis I sought was not yet developed and may be a few years down the line. He did let me know that there are programs in the works (which might be expensive) that will be available in the near future. Leave it to me to be ahead of my time yet again.

As far as suggestions about what to do with my concerns, he suggested I continue to work with the other doctors I see to develop strategies to minimize the damage to my liver. Perhaps that will keep me alive long enough to make use of future genetic testing.

One of the areas we discussed at length was my SLCO1B1 Gene variants that keep certain substances from entering the liver for processing. The doctor knew of my issue but had no solution. There doesn’t seem to be any way to fix the problem currently. It made me wonder if that has something to do with our familial inability to adequately metabolize Fructose.

So… we’ve identified the issues, but there’s nothing that can be done with the current state of medicine. All I can do is continue to keep my weight down, monitor my Fructose intake, and exercise. Easier said than done…