Medicine is cool.

[theweaselking]

Second-oldest living Harlequin Ichthyosis sufferer is first to ever give birth.

HI is usually fatal within a week. Living to 21 with it is remarkable, having a child even more so. The labour was scary, the C-section had sudden major complications because many of their tools assume that the patient will have skin, but mother and child are now doing fine.

Comments

[copperflame.livejournal.com]

I remember looking for harlequin once looking for costumes and coming up with this condition. Never had I ever even really thought about how wonderful skin is until then.

[skiriki.livejournal.com]

Wow! That is certainly something!

[ashbet]

I admit, my reaction was OH GOD WHY??!? "Only a small chance" is not the same as NO chance, and there's no way in hell I'd take that risk with my potential kids.

(Admittedly, my perspective is that of a woman with a horrible genetic disorder who passed that disorder along to my child *because I wasn't diagnosed until 10 years after she was born*, but if I'd KNOWN that I was both going to be dealing with it myself, *and* that it's autosomal dominant, I would have made different choices in life.)

Glad that she survived the experience, and that her son is healthy -- although I seriously hope he goes in for genetic counseling with his partner if he ever decides to have biological kids. It's just too hideous a disease, and the infant mortality rates are so high, that it's not something I'd ever want to inflict on another child, if there's any way around it.

(I know this comes off sounding like eugenics, but that's not what I mean -- I just think that a disease that painfully kills most sufferers in infancy or early childhood isn't a chance I'd take with my own children.)

-- A <3