October is Rett Syndrome awareness month. You may not know that. Baffling when you realise it’s the second most common cause of profound disabilities in girls after Down Syndrome in the Uk. Its also the anniversary of my sisters death.
Kathryn was born, like most Rett girls, apparently normal. Some of these details will be sketchy as it’s not something I have ever found easy to talk to my Mother about…… All Rett girls are born and develop for a short period of up to about 6-18 months when a slow or sudden regression happens and the little girl you knew before changes in front of your very eyes. Kathryn was around a year old when she had a massive epileptic fit and I remember my Mother running across room screaming as she called 999. I was 7 years old.
Kathryn wasn’t diagnosed until she was around ten years old, something I realise now must have made a bad situation really much more difficult to swallow. Not knowing what was wrong and how that would shape her (and our) future is something that is now much less common as diagnosis is made earlier. She developed until the age of about 16 months and never developed further. But before I recall all the really crappy things that this disability inflicted upon her, I want to tell you more about her character and her amazing presence. She was so pretty, and could make flirty eyes at anyone so much so that our dentist used to blush! She laughed and smiled, she loved chocolate buttons, having a bath and the company of others. She was happy and loved and made all of us stronger for knowing her. But she was also profoundly disabled. She never walked, never talked and never sat up. She was reliant on everyone else to help her with every waking moment. She had scoliosis and mild epileptic fits all her life. At the end of teens she developed pneumonia more often and was hospitalised a number of times a year. In the end pneumonia killed her at age 19 years. It wasn’t expected but at the same time almost inevitable considering her body’s inability to fight off infection and to breathe.
There are thought to be four stages of Retts syndrome early signs, regression, plateau and deterioration. No two Rett girls are the same and all of them present differently from each other in abilities, limitations and life expectancy. Rett Syndrome is most often caused by a spontaneous genetic mutation and can occur in any family at any time. It affects around 1:10,000 live female births. Whilst there is currently no treatment for Rett Syndrome, there is hope. In 1999 scientists identified the genetic mutation that causes Rett Syndrome. In 2007, they unexpectedly reversed the condition in mouse models of even late stage disease. Research efforts are now focused on translating these research developments into treatments and cures for our children living with Rett Syndrome today.
Being the sibling of a profoundly disabled sister probably shaped my childhood and adult life in so many ways. It made me a fighter, a believer in the under dog, a more tolerant and patient person but it also made me bitter and angry on times. When Kathryn died it left a huge hole in our lives that’s still there. I no longer have to think about a future of helping look after her but I no longer have her smiling face around me. The toughest part of that? Not being able to talk to my Mum about it as it would upset her too much.
As a Mother, I can now fully appreciate how hard my Mother’s life was and still is. How hearing that your child has an incurable and life limiting condition must be so devastating that it shapes your every waking thought and must make you question how you are ever going to carry on. How everyday battles with the school run, with affording a holiday to organising a day out become so much bigger to plough through it all.
So, now you know about Retts Syndrome – its more common than you realised and things have changed since Kathryn. There is hope.