Turner’s Syndrome and Us; by Racheal Chapman

t was a cool September day and we we’d decided to go for lunch. Normality was what was needed, a lunch date with my husband was perhaps the perfect opportunity to ‘forget’, even if for just a few hours.

I was around 14 weeks pregnant, and two days previous I’d had an amniocentesis to determine whether our unborn child had a chromosomal abnormality. It was our first child, and our twelve week scan had detected a larger than normal nuchal fold. Nearly TRIPLE what was considered normal. We had decided that forewarned is forearmed, and thus taken the difficult decision to have an invasive procedure to get the answers that we needed.

On route to lunch I received a phone call from an unknown number. It couldn’t be the hospital – they said it would take at least two weeks to get the results…

My heart raced, I clicked the green button.

I still don’t remember much of that phone call. Tim had pulled over near a war memorial, and sat staring at me, trying to read the emotions on my face.

The few things I do remember are:

‘We didn’t expect this result’

‘It is called Turner Syndrome, and actually affects the sex chromosome, pair 23’

‘We don’t know much about it either’

‘We will arrange for you to see a consultant tomorrow morning’

‘99% of Turner Syndrome babies don’t make it through pregnancy’

I ended the call, tears streaming down my face, tears streaming down my husband’s face. He was desperate to know everything that was said, but I could barely remember. I repeated the main pieces of information, and we then drove home in a stunned silence. All that ran through my head was 99% of Turner Syndrome babies don’t make it…..surely they must be wrong, they MUST.

In the hours, days and weeks following the diagnosis, I cried, slept (better than I had in weeks), and spent a lot of time on Google. Too much time. All that was found were stories of sadness. Slowly we started to tell family and friends the news. But one thing was nagging me….so little was out there about Turner Syndrome. I wanted to get our story out there, a story of hope and happiness.

Now I am a girl with a head for figures, but I knew that the statistics were not in our favour – only around 1 – 2 % of Turner Syndrome pregnancies survive. But despite those figures, despite my anxiety, I needed to share our story.

So a friend started up a blog for me. A blog which I used to document our pregnancy. The highs, the lows, the facts. It was my therapy. It was a way of keeping friends and family informed. It was a way of raising awareness and helping others who may one day find themselves in our shoes.

Every day, week and month was a milestone for us. For the best part of the pregnancy I had at least one appointment a week – midwives, consultants, cardiologists, growth scans. You name it, we had it. We were SO well looked after by the NHS. Sadly we were offered the chance to terminate the pregnancy on more than one occasion, and we did come across one or two medical professionals who were less than positive about Turner Syndrome. However termination was not an option for us – our babe, our GIRL, only had slim chance as it was. Who were we to deny her of that chance?

Friends and family rallied round, my boss was incredibly understanding, people prayed for us. We also made contact with the Turner Syndrome Support Society – a charity based in Scotland. What a find. What Arlene does not know about Turner Syndrome is not worth knowing. After months of facing medical professionals who, granted were incredibly thorough, knew so little about Turner Syndrome that it was difficult to have complete faith in them. The TSS society was a much needed lifeline.

Fast forward to 36 weeks pregnant, and aside from low platelets, all was as well as could be. I’d started maternity leave and fully expected an early arrival, but our little miracle didn’t arrive as early as expected. She did however cause quite a commotion…

At 39 weeks I started to feel ‘weird’, I’d guessed I was having mild contractions, but was incredibly concerned at the lack of baby’s movement. My husband drove me to the hospital and within 20 minutes of arriving, we were told baby wasn’t coping with my mild contractions.

Suddenly, at least 8 people descended on my room helping to prepare me for an emergency caesarean.

Our beautiful G was born several minutes later at 5:18pm, weighing 5lb 13. She needed extra help to get going but apparently she was out in the nick of time. Minutes later and it could have been a different story.

The next 24-36 hours G was very unsettled and wouldn’t feed much. She was also bright red (though at the time we didn’t think much to this).

The paediatricians visited us Monday morning and told us she needed some tests in special care. By late afternoon we were told she needed to be admitted to special care. High haemoglobin-very thick blood, and low platelets. We were distraught, and my post labour hormones went mad. I shared the news with family, friends and our pastor who had visited earlier that day.

Later we visited our precious G in special care. We were met with a sight that I won’t forget -she had canulas in both hands, and was hooked up to drips and monitoring machines. She looked so tiny and helpless.

In the days that followed, G had a partial blood exchange (swapping some blood for fluid) and a transfusion of platelets.

Was it the Turner syndrome? G’s condition with her blood could happen to any baby. Little is known about whether it is linked to turner syndrome. It wasn’t linked to the problems in labour or birth either. Just one of those things…

After 5 days in special care, and some routine tests and scans, we were finally discharged and allowed to take our miracle home. Just in time for mothering Sunday.

~

Four and a half years on, and our miracle doesn’t cease to amaze us. She has just started mainstream school and is full of life. G does see a variety of specialists, including a paediatrician, an endocrinologist, a cardiologist, Ear Nose and Throat consultant, an ophthalmologist, a dietician and a community paediatrician. She takes a daily dose of growth hormone to try and maximise her final height (hopefully nearing 5 foot).

She also has a number of issues which are consistent with Turner Syndrome – recurrent ear infections, food intolerances, anxiety, sensory processing issues, has a slight abnormality with her aorta, has spoon shaped nails which are prone to ingrowing. Equally there are some traits of Turner Syndrome which she does not possess.

But either way these don’t define her. She plays football, does karate, is learning to swim (albeit very slowly!), completed all of her toddler badges in gymnastics, is the most amazing big sister to her baby brother, loves books, gives the BEST hugs, enjoys baking, has the most fantastic vocabulary, and is HILARIOUS. Every day I thank God that she is ours. We would not change a single thing.

~

What is Turner Syndrome? (taken from http://tss.org.uk/ts/what)

Turner Syndrome (TS) is a chromosome abnormality affecting only females, caused by the complete or partial deletion of the X chromosome. The incidence of TS is approximately 1:2000 live female births.

Confirmation of a diagnosis of TS is by karyotype but a suspected diagnosis can be made by a series of characteristic physical features i.e. web neck, broad chest and widely spaced nipples, low hairline and increased carrying angle of the elbows and other features. Two main clinical features of TS are short stature and non-functioning ovaries. Diagnosis can be made at birth if, for instance, a newborn needs heart surgery because of coarctation of the aorta or because of oedema of the hands and feet. Pre-natal diagnosis is sometimes made by chorionic villous sampling, amniocentesis or ultra sound. However, most girls are diagnosed in early childhood when growth fails or later when the absence of a pubertal growth spurt and development of secondary sexual characteristics become apparent.

Girls with TS may have only a few or several of the features associated with TS, but short stature and infertility are nearly always present. The possibility of growth hormone treatment for short stature and IVF for infertility are options now available to those with TS.

Diagnosis of a genetic condition can be a frightening experience. We are here to help so please contact us for any info, advice and support we can offer.

rd support pic

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