Puberty brings plenty of uncomfortable and embarrassing firsts: The first time you catch a boy staring at your new training-bra-wearing chest, those first few hairs that pop up "down there," your first run-in with sweat stains, and of course the most traumatic adolescent milestone of them all — the arrival of your first monthly period.
Invariably, your mom or older sister proudly welcomes you into the universal club of womanhood with a big hug, a copy of What's Happening to My Body?, and a bunch of scary-looking toiletries. But for women living with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), menstruation is one part of puberty they will never experience.
This little-known congenital condition is characterized by the underdevelopment or absence of a cervix, uterus, and upper vaginal canal, the three internal organs responsible for menstruation. Because a lack of menstruation is the main identifying symptom, patients aren't usually diagnosed until their teen years.
Without periods or ovulation, the majority of MRKH patients can't get pregnant naturally, turning to IVF treatments and adoption as alternatives. But they do have properly functioning ovaries, meaning they go through all other aspects of puberty (and menopause), can produce eggs for a surrogate, and develop normal external genitalia.
While the cause of MRKH is unknown, it's currently thought to be a result of both genetics and environmental factors. And like other rare conditions, particularly those involving the female reproductive system, MRKH is either unfamiliar to or misunderstood by the general public. (Miss Michigan 2013, Jaclyn Schultz, is one of the only public faces of MRKH.)
It's this stigmatization of the disease that inspired Cecilia Paul, a retired gynaecological nurse who spent more than 20 years treating MRKH women at the National Health Service in the U.K., to write her first novel, Elizabeth, Just 16, about one teenager's journey with MRKH, from diagnosis at age 16 through treatment.
We asked Cecilia (who writes under a pen name to protect her identity and that of her former patients) some questions to better understand the physical and psychological implications associated with this life-changing disorder.
Why did you choose to write a novel instead of a memoir of your experience treating women with MRKH?
I wanted to write something on MRKH, especially after remembering some of the women's poignant stories, but it was difficult because I was bound by red tape and lots of confidentially and ethical issues. This was one of my reasons for writing a novel instead of a medical textbook or a 'case study.' I just wanted to write freely and felt that writing it as a fiction novel, albeit inspired by factual events, would make it more accessible to women with MRKH and to the general public.
In the novel, Elizabeth's mother blames herself for her daughter's diagnosis. Are these feelings of guilt common for the mothers of patients with MRKH?
Yes, many of the mothers feel guilty. Initially, most feel they passed their defective genes to their daughters or did something wrong during the pregnancy. Even when they're informed that it wasn't their fault, they still feel guilty and helpless because of their inexperience dealing with the condition.
Why did you decide to specialize in this rare condition? Did you have a particular patient with MRKH that inspired you to want to help other women suffering from it?
I happened to work with gynaecologists who specialized in MRKH. Once I got involved, I was hooked and became very passionate about helping these women. It's why I stayed in this subfield until I retired. I didn't have a particular woman in mind because they were all special and lovely in their own ways, but obviously some women's stories were more heartbreaking, and those inspired me to want to help them and prevent others from being mistreated or hurt in the same way.
What kind of mistreatment did these women undergo?
I was aware that some physicians made rude, callous, and insensitive comments about their newly diagnosed patients not having vaginas. In other cases, the women were misdiagnosed because their doctors had no experience and no help was offered. Sadly, because of funding reasons, some were denied referral to the specialist centers, drifted for a while, and were much older once they were finally referred to the appropriate specialist. Of course, I believe this has all improved over the years and younger women who are diagnosed today have better treatment options.
What treatment options are currently available to women with MRKH, and which do you recommend?
The treatment for women with MRKH is twofold: Firstly, the women need psychological help and support to come to terms with their sexuality, womanhood, and inability to bear their own children (although a small minority have no fertility issues). Secondly, they need to undergo the physical correction of their under-developed vaginas in order to enable sexual function.
For the latter, the preferred and first choice treatment option is the use of special vaginal dilators (graduated sized cylindrical rods) to stretch their shallow vaginal dimples to a functional size. Surgery is another option, but should only be offered if dilator treatment fails. The woman should be properly counseled beforehand because surgery is not only a more invasive and painful treatment, but also requires the use of a post-surgical dilator to maintain the vaginal opening.
Is sex only an option after dilator or surgical treatment?
Yes, usually sex is only possible after dilator use or surgery. Unless they're already in a relationship, many women are terrified of the opposite sex finding out they don't have a vagina — or just a shorter, more narrow one — so they won't embark on a sexual relationship until they've completed treatment. There were, however, a few women I treated who were in a loving relationship and managed to successfully dilate their vaginas simply by having sex with their partners. So having regular sexual intercourse can also stretch the vaginas to functional size.
What's the one misconception about MRKH you hope your story will debunk?
That women aren't females because of their absent uteri, cervices, and vaginas. It's important to acknowledge their abnormality, but equally important to inform them that they're still females because of their female chromosomal pattern. Also, many are unaware that they do have working ovaries, which produce the female hormones for the development of their secondary sexual characteristics like their breasts and body hair at puberty.
If you could offer advice to a woman newly diagnosed with MRKH, what would it be?
I would inform her verbally and in writing about the condition (in case of information overload) and try to allay her fears by letting her know she's not alone. I'd then provide her with options for counseling, treatment for her under-developed vagina (stressing that she can choose when she wants to do this so she doesn't feel pressured into it), and fertility options.
What about the condition surprises you the most?
Over the years, women often told me this during their first meeting with other MRKH patients: "I can't believe everyone looks so normal." This highlights the distorted image many MRKH women have of themselves. Hopefully these meetings helped them understand they're normal, too, despite their condition.
I've read that some women with MRKH may also have hearing difficulties, changes in their bones, and kidney and spine abnormalities. Roughly what percentage of your patients had such symptoms and what treatment options are available?
Forty percent have renal anomalies, and approximately 15-20 percent of those patients only have one kidney. Ten percent suffer from hearing loss or impairment, and 10-12 percent have bone or skeletal abnormalities. The treatment is the same as it is for anyone else with these conditions — surgery or spinal/ limb prosthesis for an absent or shortened limb, or hearing aids for those with hearing impairments.
While MRKH is certainly a very devastating condition to live with, did you ever have a patient that in some way benefited from the diagnosis because it inadvertently brought about a positive change in her life?
It made them stronger because of what they had to go through, and many found very loving partners — they knew from the beginning that their significant other loved them for who they were and not for sexual reasons. Also, because these women knew early on that they would not be able to naturally bear their own children, they didn't have to waste years investigating their infertility issues and could instead plan for adoption or save for IVF surrogacy as early as possible since it's an expensive option.
What do you hope your novel accomplishes?
I hope it will offer encouragement to women with MRKH, their families and friends, and urge the affected women to talk openly about their condition. But my novel isn't just a way to help the newly diagnosed — they likely have access to appropriate management nowadays. It's also to encourage women who were diagnosed ten or more years ago, who are still frightened and embarrassed, to get the support they need. I want everyone to know the importance of managing MRKH with the help of expert specialists.