In June 2015 my sister-in-law, Heather Poxon, successfully completed her first ever competitive 5K run in St Albans, in support of Reverse Rett. One of Heather’s colleagues has a little girl who was diagnosed with Rett Syndrome at the age of 3, and her family have been relentlessly raising money to fund research to find the cure ever since.  Heather wanted to help, and so did her husband (my brother) Stephen.

 Following Heather’s successful run, and having met Hannah and her family, Stephen promised that he would join Heather in running the St Albans 5K for Reverse Rett, if he received £5000 in pledged sponsorship within 48 hours. I heard about the challenge and, whilst I realised this must truly be a worthy cause, I was also worried. My brother has had several mini strokes over the past few years and his health has been of concern for us all. I knew that, being the principled and determined man he is, Stephen would go through with the challenge, but I didn’t want him to.

 So, what to do? Well, as it happened, I was already in training for the Bristol to Bath marathon in October, but I hadn’t yet formally entered or chosen my charity. So the answer was obvious: I would run instead of Stephen (with a few extra kilometres thrown in!), I would wear the Reverse Rett t-shirt, and I would ask all the wonderful people who have pledged to sponsor him, to sponsor me instead! So here I am, asking J

  I haven’t yet met Hannah, but I have read a little about Rett Syndrome and I have spoken with my brother about how it affects Hannah and her family. In many ways, it is enough for me to know that my brother and his wife are moved by this little girl’s story and want to help, but I also know that it is part of the family’s battle to raise awareness and understanding of Rett Syndrome, so let me share with you what I know.

  Rett Syndrome is a neurological condition which predominantly affects girls and, although present from before birth, does not typically present any symptoms until around eighteen months of age. Hannah was born healthy and ‘normal’ and her parents had no reason to suspect that she was anything other than a happy, healthy child with a bright future ahead. But at around 18 months old, her development slowed, and she started to lose the skills she had acquired. Her mobility faltered, her words disappeared, her hands started to tremble and her breathing became irregular. She began to scream inconsolably and to pull out clumps of her own hair in frustration. A month before her third birthday, the diagnosis of Rett Syndrome was delivered, and her parents’ world fell apart.

 Hannah is now a beautiful 8 year old with a mischievous smile and an infectious giggle. She loves Olly Murs and One Direction, and watching her two little brothers fool around. She has opinions and ideas, likes and dislikes, hopes and fears. But she is locked in. Over the past 5 years Rett Syndrome has continued to take things from her. Her mobility has continued to deteriorate, as have her hand function and breathing. She has no words left. She has developed partial epilepsy and needs daily medication to control it. Scoliosis, full-blown epilepsy, digestive problems and heart complications are more than likely for her teenage years. Her future is one of surgery, medication and dependence. Unless we find a cure.

  In 2007 scientists successfully reversed Rett Syndrome in mice. Research is ongoing to replicate that reversal as well as to find treatments to alleviate particular symptoms. Reverse Rett (founded in 2010) sends 97 pence out of every £1 donated to research, which is why your donation REALLY counts. If we stop sending money, the scientists stop working – it really is as simple as that. The hope is real and tangible, the cure will happen, but we need to make it happen sooner – too many girls have already lost their lives to this cruel condition. WE can help families hold on to their girls, WE can help to create a world where the words ‘your daughter has Rett Syndrome’ are followed by ‘but don’t worry, there is a cure’.

If you would like to read more about Rett Syndrome and the ongoing research, please visit www.reverserett.org.uk

or to read Hannah’s mum’s blog about living with Rett Syndrome, visit  https://rettsyndromeandmeuncut.wordpress.com/

or to see more about Hannah and her family’s fundraising please go tohttp://holdingontohannah.com/