![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
(no subject)
My sister just called again. She’s been doing more research on the PALB-2 variant she has (and that, for all we know, I might have). In the US, it’s classified as 'likely benign,' but in Australia and China, it’s classified as 'likely damaging.'
The genetic councilor she’s been dealing with is extremely interested in me getting tested (and possibly in having our half-sister and Cordelia get tested) because more data points will make later evaluations for other people more useful.
My sister is more convinced that there’s something screwy going on, endocrine wise, in the family. Her eight year old needs deodorant and needs to shower every day. She’s taking him to see an endocrinologist because his pediatrician says that, if things go on as they are, he’ll finish puberty extremely early and never be taller than, at most, 5’2". That’s short for a woman in the US (though normal for women in our immediate family). For a man… Of course, my sister’s husband is in denial that anything’s wrong and wants her to drop the whole thing.
The genetic councilor she’s been dealing with is extremely interested in me getting tested (and possibly in having our half-sister and Cordelia get tested) because more data points will make later evaluations for other people more useful.
My sister is more convinced that there’s something screwy going on, endocrine wise, in the family. Her eight year old needs deodorant and needs to shower every day. She’s taking him to see an endocrinologist because his pediatrician says that, if things go on as they are, he’ll finish puberty extremely early and never be taller than, at most, 5’2". That’s short for a woman in the US (though normal for women in our immediate family). For a man… Of course, my sister’s husband is in denial that anything’s wrong and wants her to drop the whole thing.