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

5 Comments

  1. jeremy@thirstydaddy
    March 1, 2017 / 3:24 pm

    my wife has hyper laxity, leading to early onset degenerative arthritis. All the best to you and your daughter going forward. I'm glad that you were finally properly diagnosed and can now start to deal with the problem #tuesdaytreasures

  2. angiemwebster77
    March 1, 2017 / 3:43 pm

    Raising awareness is so important I agree. I hope that one day these rare illnesses will be so rare they are never heard of again. You aptly named your daughter, you are both so brave, it must take some strength to live with pain every day. Thank you for linking up with #TuesdayTreasures

  3. Kiri
    March 1, 2017 / 7:27 pm

    That's something I've never heard of, it's great that you are raising awareness. #tuesdaytreasures

  4. wendyr1505
    March 9, 2017 / 8:57 pm

    I have never heard of any of these before, I think you are amazing for raising awareness and hopefully one day you and your daughter can get the correct treatment you need. My Dad has a really rare condition that pretty much no one has ever heard of, he has even left his specialist consultants confused a few times. I think our bodies are amazing and it is so hard to discover all the different ways things can o wrong and how to cure them when they do. Raising awareness is so important as is further research into the human body and ways to cure these rare diseases. Thank you for linking up to #BlogCrush xx

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