Living with MRKH syndrome

Maria Edwards81 said:I guess if you want, just hit me up and maybe I can help you out 😁

Thanks again for reaching out, I think I sent you a reply via DM or whatever that's called these days. 🙂

silentfalcon14 said:Hey, I was just wondering... is there anyone else out there dealing with MRKH syndrome?

Amanda Stewart45 said:Thanks for trying to help, but I guess there's nothing there either... maybe.

Taylor Fowler3 said:Is anyone actually around in this sub? I was hoping to chat about this with someone who might know a thing or two. Thanks!

Maria Edwards81 said:I don't know that much about the syndrome yet, honestly. I only just discovered it because my doctors couldn't really give me any straight answers or tell me what was actually going on with me. I guess I'm not sure if it’s that specific syndrome or maybe something else like Morrisov or Swayerov, or even some kind of mix... I haven't exactly gone through all the tests or seen a specialist for it yet. If you want, reach out—maybe I can help you out. 😁

Here I am. 🙂

Feel free to ask me anything! I'm all ears.

fadedbear22 said:so yeah, I'm 🙂

feel free to ask whatever you want, I guess.

Thanks! 🙂

Taylor Fowler3 said:Thanks! 🙂

🙂
No problem at all
If I can make things even just a little bit easier for any girl or woman out there... it would honestly mean the world to me.
Unfortunately, I know way too much about this syndrome... so...
I'm here for you

A quick rundown on MRKH:

"Basically, MRKH syndrome means a woman is born with incomplete development of the vagina, cervix, uterus, and fallopian tubes, even though she has the female genetic code (46xx). We still don't really know what causes it. So, it’s this anomaly where a woman is born without a uterus, a cervix, and in a lot of cases, the vagina, which means she can't carry a pregnancy. Some women might have tiny, rudimentary bits of a uterus or tubes left over. Everything on the outside looks completely normal. The frequency of the syndrome changes depending on which study you read... but it's usually estimated at about one in every 5,000 women. It happens somewhere between the 4th and 6th week of development. It also involves other related symptoms, like kidney issues, bone problems, or hearing loss—some of us deal with those, and some don't. They all stem from the syndrome itself."

Patrizia Bok. 🙂 I’m seriously glad you posted this. You’re going to be a huge help to a lot of women out there.
I have one specific question for you if you don't mind: what kind of tests did you actually have to go through—besides the standard OBGYN stuff—to get an official MRKH diagnosis?

Maria Edwards81 said:Hi Patrizia Bok. 🙂 I'm honestly so glad you reached out, I think you're going to be such a huge help to a lot of girls.
I was wondering about one thing, if you don't mind sharing—what kind of tests did you have to go through (besides the OBGYN stuff) to get the MRKH diagnosis?

Hey 🙂

uh, this was all back in the "last century"😉 so honestly, I don't remember most of it... I'd probably need to dig through my old files...
There were minimal gynecological exams, mostly because there just wasn't much to check at first. They didn't really get the full picture until they did a laparoscopy. Other than that, if I recall correctly, they ran everything—all the hormone panels, even some kind of DNA test (don't ask me which one, I have no clue), X-rays, ultrasounds, and basically an MRI of my whole body, even though they were mainly focused on my abdomen.
If I remember anything else, I'll post it here🙂.. but please, feel free to ask anything!

How about you? Have you been diagnosed?

I found this video on YouTube about MRKH... maybe someone wants to take a look (though it might not be for everyone)
http://www.youtube.com/watch?v=LvC2K...eature=related

I still don't have an official diagnosis 😢 My case definitely isn't MRKH syndrome, but maybe it's some weird hybrid. So far, I’ve run every gynecological test under the sun. I even had a laparoscopy, which basically revealed the reason I haven't started my period is because I don't have ovaries. I have a uterus, but it's small and underdeveloped. They put me on hormone replacement therapy, and now I'm just waiting. My gynecologist has basically given up on me; she won't refer me anywhere and seems totally checked out. Meanwhile, I'm desperate to put a name to this—like, why was I born without ovaries? I don't believe aliens stole them from me 🤣 I'm asking about the tests because I want to take matters into my own hands and go get them done myself, but I have no clue what I actually need. If you don't mind, could you tell me which doctors you saw? Did you ever see doctor Begović?
On top of all the gyno stuff, I did karyotyping, and the result was a normal 46,XX female karyotype. I'm wondering if there's a way to do a deeper genetic analysis, or is karyotyping the absolute peak? Is that the most accurate thing you can do?
Also, besides that, I want to know if you're on hormone therapy too? And how are your bones holding up? That's the thing that's honestly killing me with worry. 😢
Pita

Hmm.. what are you waiting for?

As for me, I still have my ovaries—one is a bit sluggish, but they both work, so I’ve never actually needed hormone therapy. My uterus is small and underdeveloped too, just like yours, and honestly, there isn't much anyone can do about that kind of thing...
I went through karyotyping myself, and I got the exact same results.

Sweetie, if you aren't happy with your gynecologist, just find a new one!
I went through so many doctors before finally finding someone who actually cared about me first, and then turned out to be a specialist who truly wanted to help.
That wonderful man is retired now, but I really don't know where I'd be without him.

How long are you going to keep struggling with this lack of knowledge regarding your own body and health?

And I should add... I totally get that you have a million questions. Like, how, why, why me, when??? I had them all too, being in the same boat... but the truth you'll eventually have to face is that some answers—the ones you're looking for to make it all make sense—just don't exist.

I’m 25 now, and I’ve been seeing different gynecologists for checkups since I was 16 or 17. Because I was a virgin back then, they couldn't perform ultrasound exams, and everything they could feel during a physical exam seemed perfectly normal. They just blamed my missed periods on stress or a late onset of puberty. Once I hit 18, everyone started getting seriously worried. After bouncing between a bunch of doctors who had absolutely no clue what was going on or what pills to prescribe, I finally got referred to a specialist. That’s when she ordered a laparoscopy, and we finally discovered the real reason behind my "missing" periods.
What am I waiting for? I'm just waiting for this hormone therapy to actually work and for me to finally bleed—if that ever happens. I don't have many options here. Most general OB-GYNs just spout nonsense. I know they don't see cases like mine every day, maybe not ever, so they just get lost. My regular gynecologist is fine for standard checkups, but she simply can't give me the answers I need, and she won't go out of her way to fight for me.
The MRKH syndrome has nothing to do with what I have. 😢I might have gotten a little too ahead of myself thinking I’d actually find some answers, but I haven't found a damn thing. Maybe I should just accept it, like you said, and realize I might never find the answers I'm looking for.

Maria Edwards81 said:I'm 25 now, but I started seeing different gynecologists for checkups when I was 16 or 17. Since I was a virgin, they couldn't perform ultrasound exams, and everything they could palpate seemed totally fine. They just blamed my missed periods on stress or delayed puberty... once I hit 18, everyone finally started getting worried. After bouncing between a bunch of doctors who had absolutely no clue what was wrong or what pills to prescribe, I was finally sent to a specialist. That's when she ordered a laparoscopy, and we finally discovered the real reason behind my "delayed" cycles.
What am I waiting for? I'm just waiting for hormone therapy to actually work so I can finally bleed, if that even happens. I don't have many options; most general OB-GYNs just spout nonsense. I know cases like mine don't cross their desks every day—maybe they never will—so they just get lost. My regular gynecologist is fine for standard checkups, but for what I actually need, she simply doesn't have the answers and isn't willing to go the extra mile for me.
MRKH has nothing to do with what I have. 😢I might have been overconfident thinking I'd find some answers, but clearly, I haven't. Maybe, like you said, I just need to accept that the answers might never come.

Have you seen Dr. Šimunić in New York on Petrov Road?

Amanda Stewart45 said:Seriously...

Hey 🙂

How are you doing? What's new with you lately?

(Just thought I'd jump back into this thread, maybe someone else needs some info or just wants to chat)

fadedbear22 said:Hi 🙂

How are you doing? What's going on in your world?

(Just thought I'd stir the pot a little—maybe someone else needs some info or just someone to talk to.)

Hey everyone,
I'm new here, but I've actually been living with an MRKH diagnosis for about three years now. I'm from the US, and I was wondering how the healthcare system works for you all? Honestly, getting my final diagnosis felt like walking through hell. It seems like doctors over here aren't really trained to recognize this syndrome at all. I was quite thin and dealt with constant headaches, plus I hadn't started my period. When I was 17, I saw a doctor who basically told me the headaches and weight were just part of puberty, and that not having a period wasn't anything to worry about yet—nothing alarming, I guess. Then, when I finally went to a gynecologist at 18 for an ultrasound, they couldn't find my ovaries or uterus. That led to hormone tests and an MRI of my brain. Once those results came back, they told me straight up that I had a brain tumor—well, not exactly, but that's how it went down. Turns out it wasn't a tumor, but rather an enlarged pituitary gland due to Hašimotov. The endocrinologist treating my Hašimotov put me on Letrox, thinking my hormones would stabilize in two months and my period would finally start. When that didn't happen after two months... well, things escalated. I ended up being hospitalized for a month, running through endless tests. By the time I was discharged, I was still completely lost. To make matters worse, the doctor told my parents about the MRKH diagnosis and left it up to them to tell me—which, in my opinion, felt pretty unprofessional. I was born without a uterus, and I'm still kind of processing the fact that I'm different. I'd love to stay in touch with you all. Sorry for the long vent. Best,

Kyle Collins86 said:Hi everyone,
I'm new to this forum, but I've actually been living with an MRKH diagnosis for about three years now. I'm from America, and I was wondering how the healthcare system works for you all? I went through what felt like a total nightmare before finally getting a definitive answer. It seems like doctors here weren't really trained to recognize this syndrome. I was quite thin and dealt with constant headaches, plus I hadn't started my period at all. When I was 17, I saw a doctor who just assumed the headaches and my weight were just part of puberty, and he told me not to worry about the lack of menstruation because it wasn't anything alarming yet. Then, when I was 18, I finally saw a gynecologist for an ultrasound, and they couldn't find my ovaries or uterus. That led to hormone tests and an MRI of my brain; once those results came back, they told me I had a brain tumor—or so they thought, though it turned out to be an enlarged pituitary gland due to Hašimotov syndrome instead. My endocrinologist treating the Hašimotov gave me Letrox, and she was pretty sure my hormones would stabilize within two months and my period would start. When that didn't happen after two months, they hospitalized me, and I spent a month in the hospital undergoing all sorts of tests. By the time I was discharged, I still felt completely lost. To make matters worse, the doctor told my parents about the MRKH diagnosis but left it up to them to tell me, which I think was pretty unprofessional. Being born without a uterus, I'm still trying to process the fact that I'm different, and I'd really love to connect with all of you. Sorry for such a long post. Best,

I've been living with this diagnosis for 18 years, and there have been many incredibly difficult moments, mostly because I didn't have the right support from my family; after the initial denial of "this happening to us," I had to watch friends and relatives start their own families while I felt like I could only engage with the idea of adoption through social services...; I guess I've somewhat processed it all in my head now, and I live with the diagnosis a bit more easily...; I found some blogs and websites online that I really wish I'd discovered sooner, just to know I wasn't alone and that all the emotions I was struggling with were perfectly normal.
http://www.beautifulyoumrkh.org/Stories.html

Hey ladies! :-))
Thank God for Dr. Poljak from Split; he was the only one who actually knew what he was doing. After wasting my time with a bunch of incompetent doctors who couldn't be bothered to try, I ended up seeing Dr. Poljak in his private practice. The second I explained my situation, he told me exactly what steps to take next—and he didn't even charge me a dime, even though it's a private clinic and he’d never seen me before! It turns out, the absolute best specialist for our condition in all of Europe is Dr. Jorge Keckstein in Austria. For those of us dealing with vaginal shortening, he performs neovaginoplasty to ensure we can have a normal sex life. You can just go to the Medicare website, print out the "Request for Out-of-Country Treatment" form, and ask the agency to fund your procedure in Austria since they don't perform it here. That is exactly what I did, my request was approved, and I traveled to Austria with everything fully covered! Dr. Jorge Keckstein is an absolutely wonderful, top-tier human being, and the entire staff was incredibly kind and attentive. He practices at the hospital in Villach. I really hope this helps someone, because it took me seven long years of wandering around aimlessly among "so-called experts" to finally find this solution... P.S. Don't you worry, ladies; we are truly special under this little sky (1 in 5,000), and that's why God watches over us so closely...

I also happen to be one of those rare individuals living with this syndrome...😕

fadedbear22 said:Well, here 🙂I
am.
Feel free to ask anything you'd like to know.

Hey... fadedbear22... are you currently on any kind of medication? I had my surgery back in 1998... an absolutely brilliant doctor... truly my lifesaver.

fadedbear22 said:Hmm... what are you waiting for?

In my specific case, I still have my ovaries—one is a bit sluggish, but they both function, which means I’ve never actually needed hormone replacement therapy. As for my uterus, it’s small and underdeveloped, just like yours; there isn't much anyone can do about that kind of thing. It is what it is.
I went through karyotyping myself, and I received the exact same results.

Look, if you aren't satisfied with your gynecologist, find a new one!
I went through the ringer and switched doctors more times than I can count before finally finding someone who was, first and foremost, a decent human being—and then, a specialist who actually genuinely wanted to help me.
That wonderful man is retired now, but honestly, I don't know where I would be without him.

How long have you been struggling with this lack of knowledge regarding your own body and health?

And I should add... I understand you have a million questions. How? Why? Why me? When? And so on. I had them too, along with everyone else in a similar situation. The hard truth you eventually have to face is that some answers—the ones you are searching for to provide closure—simply do not exist.

Good grief, even my doctor is retired now... maybe he operated on both of us?

Does anyone actually know anything about uterine transplants? What’s your take on this madness?

Hey, shoot me a DM if you can... I could really use some help with something. Thanks.