Debbie's Story

[Received May 2004]

Debbie got the UK group's subscription form from our website and returned it, writing on the back as follows:

My daughter Louise is 17 and we just found out she has no womb. We inquired due to lack of menses. My daughter doesn't know yet. She had a sonogram and the gynaecologist confirmed to us there was no womb (2 weeks ago). I think her diagnosis might be MRKH because she has much pubic hair and acne [which wouldn't be the case in say, CAIS, because of the androgen insensitivity]. My daughter is sitting the leaving certificate (college entrance exams in Ireland) and we want to wait till the exams are finished (June 24) before we inform her, and explore her condition further.

My husband and I are feeling lost and devastated, and my GP and the gynaecologist have told us to speak to no-one. Ireland is a very small place. We are carrying this alone and we feel extremely anxious. I have been surfing the net and that is how I found your group.

My daughter is a super middle distance runner and we are afraid she will have to quit because of intersex or non-menstruation discrimination. Running is her passion. It is bad enough not to have a womb, but to have to drop out of athletics as well is really horrific, we feel. I enclose a cheque in the hopes you can send me any relevant literature.

We replied (in part):

We received your subscription. Many thanks; and welcome to the group.

I actually updated our website just the other day with a bit more information about MRKH-like conditions (see 'Related Conditions' page on site). There doesn't seem to be a lot known about these types of condition, about their cause etc. Have you looked at some of the websites devoted to MRKH (go to 'Links to Other Sites' page and look at sites listed there under the 'Related Conditions' sub-heading)? They might have some more detailed information.

We hold a group meeting in March each year in Oxford and we sometimes hold an Autumn meeting too. You'd gain a lot if you and your daughter were able to attend. It very much helps, in feeling not so isolated and 'unusual', if you can meet others. We have some members from Ireland. We have someone on our list in Dublin who is about 28 and has MRKH. She was a group member in 01/02 but hasn't renewed her sub since then. She hasn't been to a meeting, so I've not met her. Would you like me to pass your contact details on to her by email?

That's terrible that the gyn should advise you to tell no-one. It's outrageous in this day and age. Who is it? Group members in Ireland have recommended various medics. Are you interested in the info?

She responded:

I don't even know where to begin. First of all, thank you for all the info you sent via e-mail. I cannot tell you what my husband and I have been thru over the past 7 weeks, but we now have new news on our daughter.

Miraculously, (after I asked the gynecologist who gave us the news that there was no womb, to please give her a course of contraceptive tabs to help clear her skin up), our daughter had a period 25 days later!!!! Needless to say we were astonished and relieved. We were raging mad that a doctor could be so careless though, and so dogmatic about the sonogram he had done. It was the second sonogram and this one was supposed to be on a more superior machine than the one in his office.

He never once gave her an internal [examination] and when I demanded to know why he said "because he would never ever do an internal on a 17 year-old virgin!" My husband and I met with him afterwards and he was completely contrite and humble about what he had put us through. I told him that I could have stood almost anything, but the single most difficult thing we had to bear was the fact that we felt so isolated and alone, and indeed, we told no-one else in the world except my GP. I also told him about the [web] research I had done and I told him that the single biggest hurt that people bear, when they fnd they have a hormone situation that leaves them out of the 'mainstream', is the way they are treated by the medical fraternity.

Obviously, our daughter has some sort of hormonal deficiency and her womb does appear to be somewhat deformed and hidden, but we will deal with whatever that situation is. The doctor was a young man, new in Waterford, and I guess human beings are prone to error.

I learned a lot from the experience. I feel stronger now and more open to life. My biggest fear was how to break the news (we thought we had) to our daughter after her exams finished, and of course, how she would take it. Now of course, we don't have to.

I am sorry to have taken up your time needlessly. I wonder about the 28 year old woman in Ireland and hope she has good support in her life. As you can tell, we are still in the dark ages over here. I was born and raised in New York, (married here for past 25 yrs) so it is doubly odd for me to have to adhere to the Irish ways. The Irish are exceptionally secretive anyway, so you can imagine how hard they would try to hide AIS or MRKH.

Please keep the money I sent you and please keep me on your list if you ever need funding for anything or if you need help in spearheading a support group over here. You were my life-line over those lonely weeks when all could do was surf the net looking for support. Thank you very much for being there when no-one else had a clue.

P.S. My GP had already begun looking for specialists and came up with a woman Dr. in Manchester and two male Drs. in London. She came up with no-one of any merit here. Again, thanks for replying to me and thanks for opening me up to a new facet of humanity.

We wrote again:

Thanks so much for writing back. Some of these medics live on another planet don't they. Did you give the gyn the address of our webite?!

So have you been told that your daughter definitely doesn't have an XY female condition? Have they done tests to see if she is XX or XY? They can't make a diagnosis purely on the basis of a sonogram. The reason I ask is because XY women with Swyer's syndrome (XY gonadal dysgenesis) -- who unlike AIS women for example, do have a uterus (and can bear children via egg donation) -- can have a period when they are given hormones. They don't have any gonads (testes/ovaries) at all, so their bodies do not make the sex hormones that initiate/control menstruation.

I've just added some Irish medics to the 'Recommended Clinicians' page on our site. But we always recommend Dr. Gerard Conway (adult endocrinologist) at the Middlesex Hosp (UCLH NHS Trust) in London. He also has some really great female gyn. colleagues, like Sarah Creighton.

Your experience illustrates so well how insensitive some medics can be to the emotional effects of this sort of situation (making people feel freakish and stigmatized, and keeping them isolated by recommending secrecy). I was wondering how you'd feel about us including an account in our newsletter (and/or on the Personal Stories page of our site) based on what you've told us? I don't want to put you through yet more anxiety if this idea is not one that you're comfortable with, so just let me know how you feel.

Do keep in touch and let me know how things go for your daughter.

She replied:

Thanks so much for your reply. Yes, it would be fine to use our story. It has been nearly two weeks since Louise got a 'period' and she is quite oblivious to all the panic that surrounded the gynaecologists' declaration that she had no womb.

Thankfully, we managed to get blood tests taken under the pretence that our GP thought she might be slightly anaemic. We had blood tests done months ago but they were not thorough. This time we sent the samples to NUI Galway under a pseudonym and thankfully, they concluded that she is indeed XX.

Is it true that most people with the XY configuration also have sparse pubic hair and extremely clear skin? That seems to be what I gathered from my research on the net.

One thing about Louise is that she always has very cold hands! I was reading some info on MRKH and was amazed to learn that most people with this disorder have very cold hands and feet.

Like I said before, we obviously have some work in front of us to find out what in fact did hold up her menses. We have decided to leave her on a contraceptive pill for 6 months and then see if she might menstruate on her own. If not, we will begin doing some exploratory work. I might try and get an MRI [scan] in Dublin sometime this summer, but I will talk to my GP about it first. I would like to know what exactly is the shape and placement of her womb.

You know, as a mother, the hardest thing for me to bear was thinking that she would be setting out into the world not feeling like she had the right to enter into a romantic relationship without explaining her situation. I think that must be the most difficult thing for MRKH and AIS females. It certainly would have narrowed down the field of potential suitors. Life is tough enough for young people and I was really depressed when I thought about those things. Not being able to give birth seemed like something further away, something that we wouldn't have to grapple with until she wanted to settle down. That may well still be part of her future. We just don't know, but it is also part of many people's lives. At least there is understanding and support for people with fertility problems (although I am fully aware that many people are too ashamed to look for real support).

Anyway, we won't be going back to the Dr. here in Waterford. We will take our business around this matter to Dublin. Thanks again for the ear.

We replied (in part):

The sparse pubic hair and clear skin is related specifically to lack of androgen (male hormone) action on the body tissues so it only applies to those XY conditions where there is a high degree of androgen insensitivity, which usually means the complete form of AIS (CAIS). Other XY-female conditions such as Swyer's (and XX conditions like MRKH) have the standard sensitivity to androgens that regular men and women have (because there is no problem with the androgen receptors in their tissues; that is purely an AIS thing), so they have the standard likelihood of having things like acne. Pubic/underam hair is also an androgen effect.

You are right that the business of explaining things to others is a very difficult one for most affected people. It's wonderful though to see some of the younger group members, talking at meetings about sailing through this and being completely open with their friends and acquaintances. They are lucky in growing up in a more open climate and with the benefit of knowing, because of the existence of the support group, that there are others on the planet affected, so they don't see it as something so shameful and secret.