Sunday, 19 February 2012

Turner Syndrome.......what's that?

We have started organising an Erin's Gift team to complete the Manchester to Blackpool bike ride in July. We are going to use this event to raise money for a very special charity - the Turner Syndrome Support Society (TSSS), so I thought now would be a good time to talk a bit more about Turner Syndrome.

I have to be very clear from the start and say that I do not know a huge amount about Turner Syndrome. As mentioned previously, we found out that Erin had this at 20 weeks of pregnancy following amniocentesis. We had never heard of it before and unfortunately our local hospital did not feel confident in explaining it to us. Therefore, upon learning of the diagnosis in a phone call on a Tuesday afternoon, we had to wait until the Friday before we could meet someone to talk through the implications for our precious baby girl. This was an awful wait - when all you have is the name of a chromosomal disorder that you know your unborn child has, the internet is not a friendly place. We read horror story after horror story and became uncertain as to whether our gorgeous girl would even survive pregnancy, never mind be able to live a good life once she was born. Among the scary stories, however, we found one website that offered some hope - the website for the TSSS http://www.tss.org.uk/  In particular, after looking through the gallery at pictures of gorgeous smiling girls we realised that maybe Turner Syndrome wasn't something to be too scared of and felt some reassurance.

In  brief - Turner Syndrome is a chromosomal disorder affecting only females, causing deletion of the X syndrome. Therefore, whilst the majority of women have two X chromosomes, women with Turner Syndrome only have one. In mosaic Turner Syndrome meanwhile, the second X chromosome is only partially deleted. The features of Turner Syndrome vary between women. In our meeting with the geneticist it was explained that Erin had a rare form of mosaic Turner Syndrome.

The geneticist reassured us that, although the miscarriage rate for babies with Turner Syndrome is extremely high (approximately 98%) we were now past the risky period and there was no reason why our baby should not survive pregnancy. She also told us more about the possible implications of the diagnosis for Erin, explaining that nothing was certain and a lot would have to be wait and see for when she was born. Overall she was very postive, however, there were 2 aspects of it that caused me particular worry. The first of these was the possibility of Erin having a congenital heart defect. We were reassured that she would have a scan to check this shortly after birth, but that she may require heart surgery.  However, antenatal scans did not detect any problems with Erin's heart and the cardiologist explained that even if there were, the surgery to fix it was relatively routine. At no point did we consider the fact that a heart defect may result in us losing our little girl.

The second thing to worry me was the fact that, due to the nature of Erin's particular form of Turner Syndrome, she would be infertile. This made me incredibly sad for my precious little girl and was the aspect of Turner Syndrome that I found most difficult to deal with. Throughout my life I have always wanted to be a mummy - the thought of being pregnant had always fascinated me and the experience of it had not diminished this. Despite this pregnancy being a stressful one I still loved it. I adored every day of carrying my baby; feeling her kick; watching my ballooning tummy and even the pain when she stuck her foot in my ribs. Realising that my darling daughter would never get to experience this filled me with great sadness. I felt glad that there was an organisation like the TSSS who would be there to support both Erin and I when the time would come to discuss this with her.

I think it surprises people to learn that Turner Syndrome affects 1:2000 females - I think this is a lot considering the lack of awareness there is. The work that the TSSS do is so important and so valuable to the women who have Turner Syndrome and their families. It had often eased some of my worries for Erin when I thought about the fact that she would have this community to support her and I was sure that through it she was going to make some great friends.

I have not gone in to great detail regarding Turner Syndrome in this post- mainly because I do not have the knowledge to do so. I would encourage everyone who would like to know more to visit http://www.tss.org.uk/index.php/what-is-ts. I hope we are able to raise lots of money to support this wonderful organisation as my brief experience with Turner Syndrome has taught me that much more awareness of it is required. Despite, the fact that the care and support we received from our local hospital during pregancy was brilliant it did always concern me that they did not know a huge amount about Turner Syndrome. I do not believe that any couple should have to wait 3 days from  hearing a diagnosis to finding out what this would mean for their child. Furthermore, I can count on one hand the number of people that we told about Erin's diagnosis who had heard of it before. I was preparing myself for finding out as much as I could about Turner Syndrome in order that I would be able to support my daughter in the best way possible and were it not for the TSSS I think this would have been a much more difficult task.

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