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Wednesday, 5 November 2014

My daughter has a good heart!!!

Prepare yourself, this may well be one of many blogs about my daughter over the coming years, so you'll just have to get used to it. As a family, our lives were changed dramatically when our youngest daughter, Angela, was diagnosed with Turner's Syndrome 6 months ago. Not heard of it? Neither had we, so there was much internet surfing and frantic questions of medically minded friends.

Turner's Syndrome is a genetic disease which affects 1:2000 live female births. It is classically associated with shortness of stature and infertility, but can affect a huge variety of health conditions, from heart and lung abnormalities to hearing and vision loss.

The diagnosis really took us by surprise. We had taken Angela to see a specialist at the Niall Quinn Children's unit in Sunderland because we were worried about her size and development. The doctors and staff were wonderful, and a couple of blood tests later, a 'mosaicism' Turner's Syndrome was confirmed. This is a variation on Turner's Syndrome where only a % of Angela X chromosomes are affected.

The treatment for height is dealt with by growth hormone injections, which began for us 6 weeks ago. the nightly routine of injecting a 7 year old child has been traumatic for everyone - but I'm pleased to say we are all doing quite well after an initially hellish period. I'll go into details at another time, but suffice to say there have been tears all round.

We recently met with the lovely folk of TSSS, a support group for those with Turner's and their families. It was wonderful, but also very sobering. The lifetime of health concerns, from high blood pressure to osteoporosis had not dawned on me, and the way short people are discriminated was clear from the anecdotes from some of the women.  

We have a lot to learn in the coming years, but thankfully, in Angela, we have a beautiful, brave and kind teacher. I want to end this blog with some good news. Angela had her heart looked at by a children's specialist this afternoon. Whilst in many children with Turners there can be major concerns, Angela, has a good heart.

This is no surprise to us. She is a wonderful, good hearted daughter! We wept tears of joy at the good news, the first of a long run of medical tests for Angela, and the signs are encouraging. She can have a good healthy life if we can keep on top of everything.

For those who know Angela, you'll know what a joy she is, and you can understand our fears and tears as parents. For those with a little faith, do keep her in your prayers. But, she at least has a kind and considerate big sister, doting parents, and, thank God, a good heart.

3 comments:

  1. All our love to Angela and you all - of course she has a good heart - how could a child so loving and so loved not have?!

    Reading this makes us realise how much we all miss you - you all feel very far away. As the (not particularly kind or considerate) big sister to one who scared us regularly with her condition, I'm so glad to hear you have a support group, and hope it brings you all much support.

    Just one thing - the Niall Quinn Children's Centre!? I hope Angela got to meet him!! xxx

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  2. We were not so fortunate. My daughter died suddenly at 15 days old. The autopsy showed she had Turner's Syndrome 45X and hypo-plastic left heart.

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  3. MC1425 I am so sorry for your loss, I cannot think of anything more painful than the loss of a child, I will hold you and your family in my prayers and thoughts

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