When I was offered a book to read about a syndrome I had never heard of, I had no idea how distressing this disorder would be for sufferers of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). Cecilia Paul, through Elizabeth Just 16, has certainly given sufferers hope and opened the eyes of people who would otherwise have had no knowledge of this cruel disorder.
As I am the opening stop on the Blog Tour, I asked Cecilia Paul to tell us about Mayer-Rokitansky-Küster-Hauser syndrome. I have also released my review of Elizabeth Just 16, which you can read at the end of Cecilia's piece or on the next blog post.
What is Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)?
-by Cecilia Paul, author of Elizabeth Just 16
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital (born with) disorder, affecting the female reproductive system, resulting in some women being born without or with an under-developed womb, cervix and vagina. It was named after the doctors who discovered the syndrome but, sometimes it is also known as Müllerian Agenesis or Rokitansky syndrome.
MRKH is an unusual but not a rare condition and, occurs in 1 in 4,500 newborn girls of the population, according to current statistics. The diagnosis is commonly made when the girls have not started their periods by the age of sixteen - they have no wombs and therefore they will not menstruate. They have normal functioning ovaries, which produce their female hormones so they develop their secondary sexual characteristics (breasts, body hair and external genitalia) normally at puberty. They are females because they have a female chromosome pattern, 46XX, which is easily confirmed by doing a special blood test.
MRKH is also associated with other congenital abnormalities - 40% of the women have renal anomalies like a single or pelvic kidney. Some women have some hearing loss or impairment and some have spinal or limb abnormalities. Occasionally, a few women might also have rudimentary uterine horns (under-developed wombs), which can cause abdominal pain so these need to be surgically removed using a simple laparoscopic procedure. Otherwise, most women only need an MRI (magnetic resonance imaging), a type of scan, to confirm the diagnosis. The women usually have a vaginal dimple and, will need a vaginal examination to assess this before treatment for their under-developed vagina. The first line treatment recommended is non-surgical dilator therapy, (using special graduated-sized cylindrical dilators or rods). When treatment is successfully completed, it will enable them to be sexually active. A study also proved that their sexual activity and satisfaction was normal when compared to other women. A few women experienced pain, which was resolved when they used some lubricants like lubricating gels. Surgery is another treatment to create their vaginas but is less commonly performed nowadays, as this should only be done if dilator treatment is unsuccessful.
The cause of MRKH is unknown but it is believed to be a combination of genetic and environmental factors that causes some women’s Müllerian duct to not develop completely. The inheritance trait is also unclear and, no genes have been identified or associated with this syndrome as yet, so it is important for the women to know that they were born with it and they had not done anything to affect or cause it.
The psychological impact of MRKH on the women is hugely complex and affects their whole being. Understandably, they are frightened and confused and, feel ashamed of their abnormality so they are terrified of anyone finding out that they are different. Therefore, their appropriate management should incorporate both the physical correction of their under-developed vaginas and the psychological support to help them come to terms with their beliefs about their femininity, self-worth and womanhood and their inability to bear their own children. It is vital that the women are treated by specialists with such expertise and, at centres that cater to their needs and, that also provide a wide range of contact support system to enable them a better chance of living and leading normal lives.
The fertility options currently available to women with MRKH are Adoption and IVF Surrogacy. Many women have successfully had their families using both methods. The latter involves InVitro Fertilisation using the (MRKH) woman’s eggs and her partner’s sperms and then implanting the embryo into the surrogate mother of their choosing to carry their baby for them. The baby is therefore genetically hers and her partner’s even though the surrogate is the biological mother. There are recent developments in uterine transplants but these are still largely experimental although in October 2014, a woman with MRKH in Sweden became the first woman to successfully give birth to a baby boy albeit that he was delivered prematurely because of health risks to both mother and baby. This is very hopeful progress but it is not without health and safety risks and why it is not available to everyone yet.
About Cecilia Paul
Based in London, Cecilia Paul has worked for the NHS, in the field of gynaecology for over twenty years and, where she later worked within a specialist team, specialising in congenital disorders of the genital tract. Together, they have treated hundreds of women with this unusual congenital syndrome, MRKH. Now retired, and with a wealth of knowledge under her belt, Cecilia has been inspired to write her first novel dealing with this little-known syndrome hoping to bring awareness and understanding into the public sphere. Furthermore, as she has retired, she would like to encourage these women to get the appropriate help from specialist centres, that can provide them with a holistic support and treatment. Elizabeth Just 16 by Cecilia Paul (published by Clink Street Publishing 28th June 2016) is available to purchase from online retailers including amazon.co.uk and to order from all good bookstores.
What did I think?
Elizabeth is just 16 when she is diagnosed with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), which is a genetic disorder that affects the female reproductive system. When Elizabeth doesn’t start her periods, she is taken to her GP. On examination, it was found that she didn’t have a vagina or uterus and she is understandably confused and upset. Elizabeth doesn’t think that she can possibly call herself a girl when the very things that make us female are absent. Thankfully, she has a very supportive family when she investigates treatment options to help her cope with her MRKH.
It was so sad to read about Elizabeth calling herself a freak and dreaming of simply being normal. What is ‘normal’ anyway? As human beings, we come in all shapes and sizes and I like to think that, with education, we are a lot more accommodating and understanding of people who may be different. Unfortunately, devastating incurable genetic disorders seem to be touching more and more families’ lives these days, mine included. So although this was completely devastating for Elizabeth, I struggled to completely sympathise with her, due to my own family's recent experience with a lethal genetic disorder, as it was always in the back of my mind that at least her disorder wasn’t a death sentence.
Although I found the book to be a bit padded at times (wow, the Appletons really like their food), I think this book will be a great encouragement to MRKH sufferers, especially those women who are suffering in silence and are too embarrassed to talk about their condition. There is hope!
I received this e-book from Authoright in exchange for an honest review.