This month, in support of Turner Syndrome awareness in the US, LDA Research talks to the parents of Betty who was diagnosed with Mosaic Turners.

‘Love is like a butterfly, a rare and gentle thing’ - Dolly Parton

Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, was first described by Henri Turner, an Oklahoma physician in?1938. It is the most common sex chromosomal abnormality found in females. It is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2. Almost all girls with Turner syndrome are shorter than average, and have underdeveloped ovaries, resulting in a lack of monthly periods and infertility. Puberty (usually between the ages of 8 and 14 years), and failing to show sexual development, is often when Turner syndrome is diagnosed. While there is no cure for Turner syndrome many of the associated symptoms can be treated. Girls and women with Turner syndrome will need to have their heart, kidneys and reproductive system checked regularly throughout their lives. However, it is usually possible to lead a relatively normal and healthy life. Early diagnosis and support can significantly improve the quality of life for those affected, by accessing appropriate treatment such as growth hormone, and preventative health screening for heart and bone health.

Martin Dutton and Ellen Buckley are the parents of Betty, who is three and a half years old and ‘is the happiest little girl, full of energy, and loves to dance. Everyone she comes in contact with loves?her,’ said Martin. Mosaics is different to Turners as only some cells are missing an X chromosome, and in Turners all the cells are missing an X chromosome. Martin, who teaches classical ballet following dancing professionally with Northern Ballet Theatre and with Schauffus Ballet, went on to describe their journey with this syndrome. ‘Betty’s condition was picked up before birth, because they could see how small she was in the womb.’ ?Her mum Ellen needed an amniocentesis, but due to Covid had to see the consultant alone, and was given a devastating recommendation that she should have an abortion. Ellen said, ‘At the 20wk scan Betty was found to have kidney problems (unrelated as it turned out). She had short femur length indicating a high chance of chromosomal disorder most probably due to downs, Edwards or Patau syndrome. I had the amniocentesis and three days later they told us it was Mosaic Turners. We also spoke to a genetic counsellor who said that she had a karyotype test showing us the percentage of Turners. It was 9.8%.’ Betty was born full term, but very small, weighing just over 3 pounds. She was in intensive care for two weeks at the Liverpool Women’s Hospital, where Ellen and Martin found the support and guidance helpful, but they did have to find out a lot themselves from the internet and books. The echo postnatally turned out to be ok, but Betty remains under cardiology for monitoring. The kidney issue (kidneys fused together) is very rare and not related to Turners. She was on prophylactic antibiotics, but has had no issues, so this has now stopped. She was also presumed to have a hypoplastic aortic arch on foetal echo and was put on prostin infusion post birth. Ellen suffered Postnatal depression but wasn’t offered any mental health support whilst Betty was in the hospital. She said, ‘In terms of support it’s been a mixed bag depending on the knowledge of the healthcare professional I saw. As it was during Covid, I mostly had to attend the appointments myself and there always seemed to be a problem. One obstetrician in particular questioned why I hadn’t terminated the pregnancy (this was at 30 weeks). We were signposted to the TSSS (UK) by the specialist midwife and I’d say that is where we have received the most support so far. Betty is now on growth hormones and seeing an endocrinologist. She has some issues with sight for which she is also under ophthalmology. And some delayed development but nothing of huge concern at the minute.’ ‘Turners has affected us both,’ said Martin. ‘We attend the TSSS (UK) conference every year to try and learn more things about it, because Betty could have so many health issues in her lifetime, and if it wasn’t for this incredible charity we would be lost. But it is expensive to be able to attend. The society have been very helpful and are always willing to answer any questions.’ But living with Turner Syndrome means extra doctor visits, staying on top of all the test results, and just acceptance of it. While Martin feels that Betty is slow with her processing skills at nursery and also at home, he said that she doesn’t have a different life to other girls her age, and is learning at her own pace. Betty is monitored by Alder Hey Hospital and has regular check-ups of her health. She has been on growth hormones for the past 10 months, which she has every day, and they will have an update on how this treatment is working at her next check-up. Martin’s advice to other parents is for mothers-to-be to get checked as early as possible if they are noticing any issues with their fertility or growth, and for new mothers dealing with this diagnosis to do their own research, as he felt there?are a lot of medical people who are unaware of this disability and need training. Martin often refers to Betty as his little butterfly. The name ‘butterflies’ and butterfly imagery that has become associated with the syndrome, is because?the X chromosome resembles a butterfly with its wings spread, according to the Turner Syndrome Foundation. While we delight in the beauty of the butterfly, we rarely admit the changes it has gone through to achieve that beauty. Butterflies are also referred to as nature’s tiniest ballet dancer.

The Turner Syndrome Support Society (UK) is a small charity founded a quarter of a century ago, committed to supporting women and girls living with Turner Syndrome throughout life, raising awareness and helping to create more research, advocacy, and education. Laura Fasciano, Director and founding president of The Turner Syndrome Foundation (US) said. ‘Before the diagnosis of my youngest daughter, I had never heard of Turner Syndrome or its impact on women’s health. To this day the absence of information in clinical settings further illuminate the vulnerability of girls and women who often go undiagnosed for years, or even decades. ‘Fostering awareness, creating new education programs, and supporting research initiatives soon became the mission objectives of the what has become hallmark programs of the Turner Syndrome Foundation. Thought leaders, clinical investigators, and healthcare providers were encouraged to share their knowledge, and they continue to do so this very day. Adult women and caregivers to children with Turner syndrome are invited to join the TSF PATIENT REGISTRY and to become activists themselves, and thousands have!’ “Never doubt that a small group of thoughtful, committed citizens?can change the world;?indeed, it’s the only thing that ever has”. – Margaret Mead

Turner Syndrome Support Society Home - Turner Syndrome Foundation

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