Tuesday, 28 February 2017

One in a Million (Or Maybe Two!)

When I was born I was a bit of a late addition, my brothers were already in their teens. Not only was an extra surprise, I was a girl and my Mum and Dad were thrilled. So were my brothers (I think!)

You could say they thought I was one in a million!

My life went on and I got married and had two lovely children. I always wanted more but it wasn't to be and I spent a lot of my life as a single mum.

When I was much older I met my current husband and we agreed to try for a baby together. My other children were already teenagers and I was getting on a bit so we didn't know if it would happen but we were willing to try.

We tried for over two years, then I had a very difficult pregnancy where we thought we were going to lose our baby a few times. But she came into the world just a couple of weeks early and we were overjoyed. She was one in a million, our little miracle baby.

Having Star kick started my fertility and she was soon joined by two more siblings.

When Star was very young we knew that something wasn't right, she seemed to be in pain a lot with her joints, especially her knees. We had her checked over and it turned out she had hyper mobility problems which was the cause of her pain. When she was older she woke one morning with a twisted neck and it turned into a major problem which took 18 months and five trips to the operating theatre to fix. It turned out that she has a rare condition called Elhers Danlos Syndrome which means her ligaments are very lax and she is prone to subluxations. She doesn't actually have a definate diagnosis yet as there are many forms of EDS and the geneticist believes that she may also have another rare condition, Marfans Syndrome. We don't know what the future holds for our little girl, but we do know that she really is one in a million and we will do what we can to make life good for her.

Last January I joined my daughter in becoming one in a million. In fact the condition I have is probably less than one in a million world wide, and I have an even rarer strain of the condition. I have Progressive Encephalomyelitis with Rigidity and Myoclonus which a form of Stiff Person Syndrome. It started suddenly and no-one has any idea why. Like Star, I have no idea what my future may hold but we carry on.

Research is so important with rare diseases. Cures and treatments can be found and those suffering can live fairly normal lives. With awareness we can avoid getting the wrong treatment. Star was treated wrong when her neck subluxed making it much worse. I have not been receiving the correct treatment for a year because my condition was misdiagnosed. A little support can go a long way, so that's why I'm sharing our story today on Rare Disease Day 2017.

If you wish to learn more about rare diseases and how you can help spread awareness please click the poster and share what you can.

Thank you, from a mum in a million and her little Star.




RachelSwirl
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