Guest Blog – Turners Syndrome information and a Grandmother’s Story – Jean

This post originally appeared on my Facebook page on 9th January.
It was been written by Jean, who has a young granddaughter with Turner’s Syndrome. Jean runs a Facebook support group for TS in Scotland, and has been a staunch supporter of both Autism awareness and of my Facebook page since I first set it up. Her support of my page was one of the reasons I chose to have a day focusing on raising TS awareness back in January.
Jean’s post gives some more detail about what TS is and how it affects those living with it, and tells the story of her Granddaughter’s diagnosis in infanthood. Jean is currently rehabilitating from illness, and went one step beyond to get this piece done for me. Jean is not a blogger or a regular writer, but I really enjoyed reading her piece and I hope you do too.

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My 4 year old Granddaughter has Turners Syndrome. I’m going to tell you a bit about it, and tell you some of her story.

About Turners Syndrome
Turners syndrome is a genetic condition that only affects girls. TS affects every one in 1 in 2,000 – the statistics have recently changed, it was previously 1 in 2500. Females usually have two X chromosomes, males have one X and one Y.

TS occurs when a female has only one complete X chromosome in each cell. The second X chromosome may be missing entirely or may be incomplete. Researchers do not know why this happens. TS is named after Dr Henry H Turner who discovered the syndrome in 1938.

Physical features of TS:
*Girls with TS are short in height, if they don’t receive treatment with growth hormones they can grow to a maximum height of about 4.5ft.
*Lack of sexual development/no onset of puberty due to reduced or absent ovarian tissue.
*A webbed effect on the skin of the neck
*Low hair line
*Low set ears
*Bottom jaw can be set back (which can make things difficult for Mums breastfeeding TS babies)
*Abnormal bone development especially the elbows and hands
*Moles
*Eddema (swelling and fluid retention) in the feet and hands
– these physical issues can cause issues for girls with regards to their self-esteem.

TS girls can experience some health problems:
*Kidney problems
*Heart problems
*Diabetes
*Weight issues
*Thyroid problems,
*Hearing problems,

TS girls can have some have behavioural, social and learning difficulties:
*Problems with social intelligence, and in forming/maintaining friendships
*Problems with spatial awareness
*Attention and hyperactivity problems
*Difficulty in recognising certain emotional facial expressions, especially fear.
*More likely to be diagnosed with Autism than girls who don’t

Not all TS girls will have all of the above issues, and if there’s one thing we do know, it’s that no two TS girls are the same!!

My Granddaughter’s story

On Christmas Eve 2009 I had the pleasure to be at the birth of my first born grandchild. Even though it was a delight when my daughter went in to labour, I must admit that, without showing my feelings, I was scared to think of my child (who is now a mature woman) going through the pain of labour. I was shocked at how together and strong my daughter was throughout the whole experience of child birth, it was truly a joy. She handled the birth through breathing and meditation and no form of pain relief – just a lot of deep breathing.

It must have been after about four hours of labour when our granddaughter was born. I could clearly see that my grandchild was very blue and not responding. The Paediatrician worked on her. The distress on my daughter’s face was so painful. All I could do at the time was to stay calm and positive. It felt almost like hours before my grandchild was finally crying, ever so gently, with all the running about of medical team etc.

I couldn’t help but see just how small my grandchild was, but then I also noticed that, tiny as she was, her hands and feet were full of fluid. We asked one of the midwifes if this was normal she replied yes. It was almost like I was aware that things just didn’t quite add up. My daughter was getting distressed, she was trying so hard to get the baby to latch on to her breast and just couldn’t. Until the head paediatrician arrived to see the baby she expressed in to a very small cup so the baby was getting her mummy’s milk.

On the arrival of the paediatrician, who I knew personally, we expressed our concerns. After he had looked at the baby he told us that he thought our grandchild had Turner Syndrome. He said he would take blood samples, and the results would be back in the morning. It was a night of fear because what he had told us was scary. Trying to stay positive for my Daughter and her first baby was hard. Christmas morning the results came back. The Doctor told us that the baby had classic Turner Syndrome. He told us our baby would be a very slow learner, that she could have severe behavioural problems, then he told us we had to go to Aberdeen (our nearest large specialist hospital) to see how well her organs were working. Our wee girl has a heart condition, but her kidneys were fine.

The Doctor told us many things, and the way he explained TS to us was by using quite a common explanation – he told us that our baby had more or less gone through the menopause already. He also told us that TS girls can grow quite naturally until they are three, but after that age growth slows down. Our little granddaughter is four now, and will be getting her growth hormone injection daily (if she can tolerate it) to help her have a chance of growing to between 4/5ft tall. When she comes to the age that puberty would normally start, she will be given hormone therapy in the form of HRT patches that will be done with hormone patches to help her achieve normal female sexual development.

So that explains some of our story.
Recently, our Granddaughters behaviour has changed. She has became very distant sometimes, she has become sensetive to certain stimuli, she is often over-active, and it seems like her brain is struggling to keep up with her body.
She is really clever, and sometimes that can make her frustrated which leads to difficult behaviour. She also sometimes becomes sensitive to noises, with certain pitches hurting her ears. My Granddaughter is currently being screened for autistic spectrum disorder. I am admin for a Facebook support group for TS in Scotland, and I have had the pleasure of speaking to several TS girls who also have Autism. They are inspiring ladies, and I love learning from their journeys.

No matter what, our Granddaughter is dearly loved and our life wouldn’t be complete without her. She brings so much joy into our lives. Her behaviour and her character make her special, she is unique. She is truly a little ray of sunshine on a cloudy day !!

~Jean~

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