Dubai: When Sabine Boghos finally understood that she was suffering from a rare congenital disorder called MRKH syndrome, it left her devastated as she saw all her dreams of having a baby come crashing down.
Now, after overcoming her despair and having come to terms with her condition, the 26-year-old is on a mission to start a support group to spread awareness about the syndrome which she believes is misdiagnosed and rarely discussed.
Mayer — von Rokitansky — Kuster — Hauser syndrome, or MRKH, is a congenital anomaly of the female reproductive system that occurs among one in 5,000 women.
Women who are diagnosed with MRKH are born with an incomplete reproductive system and do not get their monthly periods when they attain puberty, though their external genitalia are normal.
“When I was 16, I was confused as to why I still didn’t get my period and my parents took me to several doctors who kept misdiagnosing me until one of them found that I don’t have a uterus. The doctor was unsure of what I suffered from or what the condition was called,” said Boghos, a Lebanese expat.
“I continued to see many doctors between Dubai, Abu Dhabi and Al Ain, and many of them expressed surprise that I was born without a uterus and an incomplete canal.”
Boghos, whose parents had to keep the news away from her until she was just over 18, said when she finally got to know: “It felt like a dream being taken away from me. I love kids, and I got so angry of what I had, and to this day, I still could only find little answers.”
Gulf News spoke to Dr Anuradha Rahul Deshmukh, Specialist Obstetrician and Gynaecologist, Aster Clinic, who said that the condition is very uncommon in the world and is one of the rare conditions in females, which is why there is little awareness about it.
She also said that symptoms of the condition often go unnoticed until puberty.
“The women who are diagnosed with MRKH, have vaginal agenesis, which is referred to as an absent or an incomplete vagina or an absent/small uterus (womb) and the cervix may also be missing.
“Women who suffer from this condition have normal ovaries, breasts and have a female chromosome pattern (46, XX), however they do not have periods when they attain puberty, which is the first noticeable symptom,” she said.
Little is known about the number of women suffering from the condition in the UAE, she said, with only three cases reported until 2011.
Pregnancy in this condition is possible only through assisted reproduction and not normally, said Dr Deshmukh.
“If a woman was born without a uterus or a small uterus, the pregnancy might not be possible. Since the ovaries are normal and make eggs, she will be able to have a biological child with assisted reproductive technology [surrogacy],” she explained.
“In the case of an absent vagina but has a normal size and normally — located uterus, pregnancy is possible with the assistance of fertility interventions (in — vitro fertilisation),” she added.
However, with surrogacy rises many ethical and legal issues that Boghos said cannot be an option for her, considering also the high costs of the procedure. “A doctor told me a transplant is also not an option, but I still have hopes to find another option.”
Two types of MRKH
Dr Deshmukh pointed out that when only reproductive organs are affected, the condition is classified as MRKH syndrome type 1. Some women with MRKH syndrome also have abnormalities in other parts of the body; in these cases, the condition is classified as MRKH syndrome type 2, which Boghos suffers from.
“In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis).”
Doctors said the cause of MRKH syndrome is unknown, though researchers are working to determine how genetic changes lead to problems with reproductive system development in females.
Dr Rana Al Zoubi, specialist gynaecologist at Medcare Medical Centre, explained that in most cases of MRKH syndrome occur in females with no history of the disorder in their family.
However, in some families the condition appears to have an autosomal dominant pattern of inheritance.
“Originally, researchers suspected that MRKH syndrome was caused by environmental factors during pregnancy, such as medication or maternal illness. However, subsequent studies have not identified an association with any specific maternal drug use, illness, or other factor.”
Researchers now suggest that genetic and environmental factors, in combination, contribute to the development of MRKH syndrome, although the specific factors are often unknown, she added.
The condition can cause temporary mental health issues like change in emotions and behaviours as and when the individuals find out about the occurrence of the condition in their body.
Boghos, who had to go through counselling, said apart from wanting to spread awareness about the condition, she wants to break societal stigmas and taboos.
“I want people to know more about this condition and be more comfortable to speak about it. MRKH is not like other diseases, it is not life-threatening but life-changing. Girls like me suffer emotionally. I went through many stages of depression and could not find active support groups to speak to.”
She said she wants to create a zone where people can speak up about the condition and not feel ashamed.
“Many people make it clear that a woman’s role is to provide kids and raise a family and this makes many of us embarrassed to speak up. My aim is to also find a way where research can be funded to understand the condition more.”
Doctors recommend parents of young women to provide an open and understanding environment for the child to understand the condition and its effects on their body along with psychological counselling, which can help patients deal with difficult aspects of the syndrome, such as infertility.