At the suggestion of my Movement Disorder Specialist, I elected to undergo genetic testing to try to shed light on the causation of my Parkinson’s Disease. The reason my specialist encouraged it was because of my Ashkenazi Jew heritage. GBA variants are the most common genetic factors which lead to PD, and are especially prevalent in the Ashkenazi Jew population. Such variants shed light on which treatments may be more or less effective, and which clinical trials may or may not be available should one choose to participate in such. Check out this diagram of how the GBA variant leads to PD:
My support group did caution me about genetic testing. The members suggested I think about unnecessarily causing anxiety about the possibility that I had passed on a GBA variant to my son given that there was really nothing to be done at this time if I had. Ultimately, I determined that receiving the best and most targeted treatment, as well as participating in clinical trials that might eventually lead to the development of future treatments should my son or anyone else have the variant and PD, carried a greater benefit than the cost of anxiety.
Anyway, I did test positive for a heterozygous, pathogenic variant, which increased my risk of PD. Having this variant doesn’t guarantee getting the disease, but it certainly contributes. Looks like I won the Ashkenazi lottery – family slaughtered in the Holocaust and PD.
There’s a 50% chance I passed the variant on to my son. More importantly at this time, if my wife, who is not Jewish, passed on a mutation in the GBA gene as well, my son could have Gaucher’s Disease, because that’s what happens when an individual inherits two mutations in the GBA gene. Gaucher’s Disease is a rare genetic disorder that can cause many different symptoms, including enlarged spleen and liver. So, the geneticist recommended blood testing for him, and that’s what we’re going to do. He’s never shown any symptoms of the disease, and the geneticist thinks it’s unlikely he has it.