I was a volunteer patient at NIH (National Institutes of Health) in Bethesda, Maryland, earlier this year, for a drug trial. I was inpatient for 5 weeks.
At the end of the trial in early April, I also volunteered to donate a DNA sample to have my entire genome sequenced, and have the results put in a research database.
Yesterday, I spoke with a genetic counselor at NIH about the results.
It turns out that I have a "one of a kind" mutation on the TET3 gene.
Some other mutations of the TET3 gene are known to cause Beck-Fahrner syndrome, which was only first described in 2020, I think.
There are no records of the specific mutation I have in the huge genome database or the medical literature.
I do show quite a few of the symptoms of Beck-Fahrner, to varying degrees. There are only perhaps 30-50 diagnosed cases worldwide, so far, so the diagnostic criteria is still VERY much open to further study.
Autism and ADHD are among the many known associated symptoms. But as with many other genetic syndromes, symptoms can vary widely in presence and severity.
I may end up a Guinea pig again, soon, if Doctor Fahrner at Johns Hopkins wants to poke and prod at me in person.
There is apparently now a blood test that will reveal if I actually have the syndrome, which affects a very wide range of genes.
NIH didn't look for sex chromosome variations apparently, but there's a lot of overlap between Beck-Fahrner and the 47,XYY sex chromosome variant I think I MAY have, so inquiries are being made, if only for proper differential diagnosis reasons.
Additional info:
https://en.wikipedia.org/wiki/Beck%E2%80%93Fahrner_syndrome
https://www.abc.net.au/news/2024-11-05/act-beck-fahrner-syndrome-rare-genetic-disorder-awareness/104558080
https://www.youtube.com/@befahrs
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Darron, temporary Desert Rat
Today, 6:12 am
