Genetic Testing results

Joey’s genetic testing results came back. He has a mutation on the RET gene (exon 2). Apparently a mutation on this exon has never been seen before and the lab who did the test offered to test Joe and I free of charge. Mutations on RET gene can be related to an endocrine disorder called MEN 2 (Multiple Endoncrine neoplasia- type 2). The mutations on RET gene associated w/ MEN 2 are generally seen ‘higher up’ on the gene (exons 10-16, I THINK). Because of this possible connection we need to have Joey see an endocrinologist . Our geneticist has also been in contact w/ a Dr Eng in Cleveland to discuss our case with her.

Fast forward a month later. We get our results and neither Joe or I have the mutation. This is great news because it probably means (nothing is ever 100%) that his mutation is a HD only mutation and it was just a weird fluke in my pregnancy.

Joey will still need to be followed by endocrinologist but that will hopefully be short lived, maybe once a year for a few years. We will also see geneticist 1x per year to just keep ourselves up to date w/ any new research out there on RET gene and his specific mutation.

Very good news for us!

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