Roketansky syndrome: a disease in which women are born without a uterus, but it is now partially treatable

19-year-old model Kasia Nasciment had a more mature body than most girls her age at the age of 13, but she didn't get her first period until then.

 "Since my mother's period also started late, I thought it was normal.  That's why we decided to wait for some more time.

 But this wait became longer as she did not start menstruating till the age of 15.  She went to the doctor but was told that apparently she didn't have any because she wasn't showing any symptoms.

 Then at the age of 16, a gynecologist advised her to undergo some tests, but since this was the period when the Corona epidemic was at its peak, she was not able to get a detailed examination from a specialist doctor to get to the root of the problem.  Can be reached

A year later, when she turned 17, she underwent blood tests, ultrasound and other gynecological tests.  At that time the doctors were surprised to see that she had no uterus and no vaginal canal.

 She says that at that time she joked with her doctor that she wanted to be a mother.

 The doctor asked Cassia Nasimante to do another test and told her that her uterus might be in its early stages.  But after the X-ray report came, it was realized that she was suffering from a rare condition.

 A conversation with a gynecologist after the test changed Cassia Nasciment's life forever.

 Doctors said the young woman was suffering from Roketansky syndrome, in which women are born without a uterus and with a short vagina.

 "When the doctor told me this, I was stunned," she says.  You never expect anything like that.  I was sitting with my mother listening to him and when he stopped talking, I went to the bathroom and started crying, then dried my tears and came back to the doctor's room.

 She says that even after returning home, she did not get any concrete answers about her condition and became more worried and anxious.  "All the material available was very scientific, nothing was written in a language that a teenager like me could understand," she says.

 She says that she was under severe depression during this period and although she did not dream of becoming a mother, she began to see that there was no chance of her becoming a mother.

What is Roketansky syndrome?

It is a birth defect due to which the uterus does not exist in the mother's body or a part of the vagina does not form completely.  This condition appears in the sixth week after the embryo is formed.

 "The structure of the organ changes due to this syndrome, but women have ovaries and their sexual characteristics are also developed," says Natalia Piovani, a gynecologist and professor at the University of Positivo in Brazil.  Girls usually go to the doctor because they are not getting their periods.

 Menstruation does not occur because the endometrium, the tissue that covers the uterus, is not properly positioned due to the absence of this organ.

 Girls usually get their first period between the ages of nine and 13.

 This syndrome can be divided into three types.  Type 1 is the most common and occurs in about 70 percent of patients.  In this the reproductive system is in inferior condition.

 Type 2, also called A typical, is usually rare.  It causes ovarian problems as well as birth defects in the kidneys, bones and ears.

 Type 3, the rarest and most severe, causes birth defects in multiple organs.

 Well, this disease is not widely found, but still doctors do not consider Rokitansky syndrome as rare because it occurs in one woman in five thousand women.

 Generally, this condition is detected when menses are not coming or even after starting sexual life, menses are not coming and experiencing extreme pain and difficulty during sex.

 Because the genitals are completely normal from the outside, the diagnosis of this syndrome is very difficult.  Doctors usually detect anything 'abnormal' during check-ups and tests.

 "We can do a pelvic bone test, an ultrasound and a genetic test to see if the patient has XX chromosomes," says Claudia Ticano, coordinator of the genital defects clinic at the Federal University of São Paulo in Brazil.

 Is there a cure for this?

 Roketansky syndrome can be relieved with certain treatments and exercises.  The vagina can be enlarged to a normal size with dilators.

 Professor Priscilla Medina, a Brazilian gynecologist, says that 'the size of the patient's vagina is two-thirds.  Because of this, he usually has difficulty during intercourse.  In treatment, small dilators are used first and then larger ones.

 This is followed by a combination of several specialists, including gynecologists, physiotherapists, and psychologists.  Psychological support is important in this treatment as it tries to resolve the psychological distress by discussing issues about sexuality and motherhood.

 If dilators also fail, then surgery is advised.  There are several techniques for this, but the most common method involves creating a new vaginal canal

Lack of information and empathy

 Like Nascimento, 19-year-old Deborah Morais was diagnosed with Roketanski syndrome.  She did not menstruate until she was 16 years old, so she went to the doctor to see if she was sick.

 Initially, her gynecologist told her that she had a hole in her hymen, but did not inform him of her possible condition.  After taking her test reports, she went to another doctor and found out that she did not have a uterus.  But they did not get much information in this regard there either.

 I didn't understand what was wrong with me.  Even the doctors were not able to explain properly.

 Maurice says that the whole process was very stressful and although she wanted doctors to encourage her and guide her through her situation, it didn't happen.

 She says that once I came out of the clinic, I started crying.  The first doctor had no sympathy and told me not to tell anyone.

 Maurice's condition worsened and it took time for him to find a specialist who could possibly provide him with treatment during such a difficult time.

 It is also possible to become a mother

 The first thoughts and anxiety that arise in the mind after the diagnosis is that the patient cannot conceive conventionally.

 Nascimento says it was painful not to imagine herself becoming a mother.  Maurice also wanted to become a mother, but after this diagnosis, her dream was shattered.  "It's a dream for most of us, but some women don't accept it."

 After doing a lot of research, Nascimento and Moriz found a center called the Rookie Institute that researched the syndrome.  When they started looking into the possibilities of becoming a mother, they realized that although it is difficult, there is definitely an alternative in this regard.

 They were told that they could either carry the pregnancy in someone else's womb or adopt the child.  Claudia Ticano says another method being researched is a womb transplant.

 Maurice says that she is now feeling better and coping better with the problem.  Nascimento says she used to think the syndrome made her infertile, but now she sees it differently.

 Due to lack of information and delayed diagnosis, many adult girls and women live with the effects of Roketansky syndrome for many years.

 For this reason, Dr. Claudia Malotti decided to establish the Rookie Institute, which becomes the first source of support for women suffering from this syndrome.  He himself is a victim of this problem and he came to know about the absence of womb at the age of 13.

 However, it took six years for him to be fully diagnosed.  I found out when I was 19.  I was trying to have sex with my boyfriend and I was in excruciating pain.

 Because the disease is still debated in the medical community, she says, many women go their entire lives without any guidance or with the wrong treatment.

 According to Claudia, there are also many difficulties in caring for such women and providing them with psychological support.

However, she says surgery and dilation are often successful.

 Their center provides free contact with doctors, physiotherapists and psychologists, while also providing a network for those seeking help.

 "We provide medical awareness as well as dilators," she says.

 Maurice was given online support and was also assisted in dilation.  Due to this, their condition has improved a lot.

 "They welcomed me and it helped me a lot because the syndrome was affecting my mental health," she says.  Now I am happier.

 Nascimento says she found hope for the future by meeting women who were living married lives despite suffering from the disease.