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Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome

6 replies

YouInTheMoonlight · 01/10/2017 14:14

Had no idea where to turn with this, DD has recently been diagnosed with rarediseases.org/rare-diseases/mayer-rokitansky-kuster-hauser-syndrome/ . It's a genetic condition, only affects females, with a 1 in 5000 rate. So it's slim someone here can help but here goes.

It's a condition that is primarily defined by a curved spine (Scoliosis) and absence/underdevelopment of reproductive organs - Ovaries, Fallopian Tubes, Uterus, Vagina. And pain, lots of pain :(

DD has been told that her ovaries are intact and functioning but she has a malformed uterus so cannot bear children, but IVF/surrogacy would be on the table. Let's assume I'd carry for her.

As parents OH and I feel responsible (genetic condition yadda yadda), and DD has been going through emotional issues for a couple of years that are likely to be long-lasting. She's gone to college and we're concerned about her mental health. She's having therapy for said long-lasting issue but it will be some time before a spot opens up for general MRKH therapy.

As it's rare, we're all being investigated by a genomes project to check for other potential issues and DD will have follow-up next year.

Any advice, anyone have this abominable condition and have any wisdom? Thanks.

OP posts:
YouInTheMoonlight · 19/10/2017 13:35

Just wanted to give this a bump just in case someone has advice.

OP posts:
LittleLights · 19/10/2017 13:39

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LittleLights · 19/10/2017 13:42

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YouInTheMoonlight · 19/10/2017 14:10

Hi @LittleLights

She has another rare condition, genetic, and is having heart surgery today for it.

I've been researching, I'm somewhat wary of publicly detailing everything so I shall PM you if that's ok?

OP posts:
LittleLights · 19/10/2017 14:13

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Message withdrawn at poster's request.

LittleLights · 22/10/2017 09:08

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