Summary 1st International meeting on MRKH 3-6 July 2014 – Part 1

The world’s first International MRKH meeting is over, and what a success this has been!

I’ll try to summarize as best I can, it has really been some intense, educational and emotional days! This is part one, and I will work on part two and three as soon as I can.

To meet so many MRKH Sisters and sincere dedicated specialists, gynecologists, psychologists and doctors have really been a memory for life, and a life-changing experience for many of the girls.

I was so lucky to have with me 4 beautiful Norwegian girls to Poland and Norway was the country with the highest number of participants at the conference, except Poland, naturally.

Here is the great Norwegian girls and me !

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We arrived together on Wednesday, July 2nd, the day before the day!  We met Pinja from Finland at the airport before we set off to Hotel Patron where all participants stayed.

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Here we were met by Karina Sasin with open arms and a good hug.
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Later that day Daniel G, Geneticist from France arrived. First evening we were well underway to establish new friendships and share our experiences in relation MRKH.
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The next day it was time for the opening of the conference, the registration was set up, and while the professionals had their own Workshop the MRKH girls who wanted it where made even more beautiful by professional Makeup Artists.  And we learned how to apply it in the best way.
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The Make Up artist’s daughter where willing helping at the registration desk. In the entrence of the hospital a widescreen showed the way.*
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In the evening, the meeting was officially opened, and welcome drinks and cake were served at Marrakesh, along with a wide range of VeganFood.
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Friday was the day where the professionals held their presentations and shared their work and experience with MRKH girls.

The first one to speak was Liza Johannesson from Sahlgrenska, many of the girls had looked forward to listening to her.
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She talked about their work, their challenges and their hopes for the future of a successful birth of a healthy child as a result of their uterus transplants. It was inspiring, exciting and quite emotional to hear her talk and see her sincere appreciation and respect for these girls who for various reasons are missing their womb. Many girls including myself shed a few tears after her performance. It’s wonderful  to see someone show so much appreciation for our syndrome, and try so hard to give girls an opportunity to carry their own children in the future. We don’t know, of course , at this moment if the transplantation will succeed or not, and we’re waiting, together with the rest of the world, anxiously for the results. ( UPDATE 2015  – 3 healthy babies was born in 2014, 2 more are pregnant)

Liza took the time to chat with many of the girls afterwards, which meant a lot to them! So thanks to Liza, you are truly a great woman!

It was also exciting to hear how the whole uterus transplant idea began. Mads Brannstrøm is the doctor who is leading this project. He had a patient  way back in 1999 to remove the uterus due to uterine cancer. She had then asked, can you not transplant a uterus into me? You are already transplanting hands and faces, so why not a uterus? Mads could not stop thinking about it, and so the project started to take form. First they made ​​thorough attempts that were successful on mice in 2002, then a little larger animals in 2006, before finally in 2012 they did their first transplantation of wombs in 9 women.



It is not intended that uterus transplantation is going to be a competitor to adoption and surrogacy but an additional option.

In the UK alone there are potentially 12-15000 girls that could be relevant for auterus transplant, this is more than the number of people who need a kidney transplant.
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In total there have been  peformed 11 uterine transplants in the world, one in Saudi Arabia in 2000 where it was used a living donor, and 1 case in Turkey in 2011, where it was used a deceased donor. The girl from Turkey became pregnant, but the pregnancy had to be interrupted after a few weeks due to complications. Read more here.

In Sweden they used living donors, and of course everyone has gone through rigorous research and many conversations before they joined the study.

All participants has good health, are aged 27-38 years and donors are all under 60. Everyone got menstruation after 4-5 weeks, and  12 to 16 months after the surgery they can try to get pregnant.

None of the girls had physical or mental problems afterwards.

The medicines used to prevent the body repel the uterus is the same that is used in other cases of organ transplants example, kidney, heart, etc.

Infertility is also classified as a disease of the WHO. IVF was controversial at the time it was done experiments with this, just as it is controversial to transplant the uterus.

Today it is still 3% of women in Sweden who had a baby just by using IVF.

Who knows what the future will bring as a result of their work at the Sahlgrenska!
It was so great to meet Liza !

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MRKH and Genetics.

Amy Lossie – geneticist and president of The American MRKH Organization Beautiful You MRKH had a great video presentation for us.

Here she talked about how they have researched gene LHX1. For us who don’t work in this field, but living with MRKH appreciated how she attempted to explain it all in an understandable way.

Our Genes must be turned on and off in specific places, at specific times if not an error may occur. Kidneys and mullerian develops simultaneously.

When attempting to remove LHX1 gene in both boys and girls, they have discovered that this leads to malformations or underdevelopment of the reproductive system. But there are also several genes that are involved in the development of this part of the body that have not yet been investigated properly. But they are working with researching even more, and maybe they are close to finding a cause and an understanding of why MRKH affects about 1 in 4500 women.

Approximately 20% of girls who are diagnosed also has MURCS. These residues can cause major pain in women. Since MRKH have many different degrees and symptoms it makes it harder to find the cause of it.

But we are so happy about the research that is ongoing, maybe the answer will come in the future, and when you have the answer one might even find an opportunity to prevent the syndrome occurs.

Her you can watch Amy’s presentation:

20140704_105925Daniel Guerrier,  Senior Scientist from France has been working on research in MRKH syndrome for 12 years. He is working to map out a familiar context, and diagnostics of MURCS. MURCS is when in addition to the lack of uterus and short vagina canal; also have skeletal problems such as scoliosis, hearing problems and kidney trouble. Here have been many cases where family members can be affected by one of these, where a girl is born with MRKH. Focus is on finding a genetic context.

Daniel stressed very strongly that there is nothing to suggest that neither parent has done something “wrong” which then has meant that the child has received MRKH / MURCS.

All people are different, but our genes are the same, it is the chromosomes that make us different. A person can have a separate anomalous market, but if she is affected or not depends on her own genetic background. MURCS also affects men.

Daniel is also concerned that girls diagnosed with MRKH should undergo a full medical examination. Here it should be implemented:

• Gynecological and geneticist trests if possible.

• Ultrasound and MRI

• And one should ask about family history (murcs) if anyone has had bone, kidney or hearing problems.

Daniel also has a strong desire to work together with other professionals, create a network and work more globally instead of locally and together find new strategies.

Creating a good understanding of the syndrome, get defined genotype – Phenotype correlations. And last but not least create a tool for diagnosis.

Daniel spent much time with the girls and he was absolutely fantastic in the way he met us.  He shared willingly of his knowledge, answered questions, reassured, comforted and counseled. He is truly a great man who made ​​a lot of girls really feel important and cared for. We are very happy for the work Daniel does and for his commitment to us as people and as women, rather than a number and an exciting study.

 

20140704_115555Morten Herlin, Student at the genetics department at Aalborg University Hospital works within the same field as Daniel. His team is working on the occurrence of MRKH and kidney problems in other family members. Here they are still in an early constant, but things may indicate that kidney problems are something that runs in families of girls with MRKH.

67 families diagnosed from 1949 to 2014 were included in the study. Kidney dysfunction was the most common connection between MRKH girls and their families. He also believes there should be researched more on MRKH type 2 in relation to MRKH and kidney problems within the family.

More studies on genes are clearly something that is needed, such that one may eventually be able to determine the cause of MRKH. This is obviously a difficult and time-consuming job that requires a lot of data to analyze.

Their team will analyze more data and maybe have a few more answers about a month or two in their study.

 

Psycho Sexual functions in women with MRKH.

Aleksandra Chodecka, Marta Szymanska-Pytlinska and Katarzyna Walczyk-Matyja has conducted a study in which their goals were to analyze the issues girls may experience in intimate relationships and in relation to the desire to start their own family and how their lives are affected by this.

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The study itself is both important and valuable in the psychological treatment of the girls. Unfortunately it was presented with a lot numbers and statistics, which meant that several of the girls found it difficult. Many have already been faced by doctors earlier as a number of statistics and as an interesting object to be investigate because they have a rare syndrome. Sensitivity is so incredibly important in the face of these girls.

Nevertheless, I think the study addresses some important things and what came out, when we disregard the numbers and statistics are the following:

• The vast majority of girls with MRKH find the inability to give birth the hardest to bear

• Many of the girls are afraid of being rejected by future partners, and after the diagnosis has been set experience feelings of isolation, depress, shock and confusion.

• For family, especially mother and father ranges from feeling guilty and to welcome and support their children in the best possible way.

• The general adaptation to the syndrome increases when combining medical treatment with psychological treatment.

• Some women experience doubt about their own femininity and feel incomplete.

• Some people get a distorted view of their own body and have a lower self-esteem.

• Good self-esteem is most common in women who have already received treatment for MRKH.

• Compared with women who have MRKH, characterized MRKH girls having a higher level of psychological challenges, lower levels of mental health, higher levels of anxiety and with greater depressive symptoms.

The conclusion of their study states the following:

• Indicates a possibility of higher levels of stress / anxiety and hyperactivity.

• The patient’s sexual identity indicates that the girls certainly identify themselves as women and in all respects female traits.

• Sexual experience gained as an adult, suggests that these women’s sexual needs and desires do not differ from the normal process of sexual development.

Questions for further research:

• What sexual problems can occur as a result of MRKH syndrome?

• What specific solutions are used to treat these problems?

• How sexuality in women with MRKH differs from the sexual functions in women with MRKH.

• What factors facilitate coping the syndrome and facing developmental tasks?

 

PART 2

PART 3

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