My daughter Eva has Rett Syndrome; a rare neurological disorder that in her case, left her locked in a body that would not work for her from the age of 9 months. I went from being a photographer to being a mum to being a rudimentary therapist, advocate and ranter. This blog is here to share ideas, thoughts, therapies, recipes, advice and sometimes have a rant. or two.


Thursday, January 31, 2013

My big girl

Eva started school this week and it was a most exciting and frightening event!  We were definitely far more nervous than she was and she grinned the whole way in to class on the first day.  It felt so strange to be told to leave and to not have a long meeting with someone about how she does things and why and what etc etc.  I was amazed at how easy it all seemed to be.  But of course after the first-day high we are having a few teething problems ...  things like Eva not getting enough staff time - quite seriously she is getting 2.3 hours per week of one-on-one aide time. Yes I wrote week. It's seems so cruel to have a child with special needs barely getting enough assistance to have food, water and go to the toilet. And there is no time left after that to help her with school work.  And yet that is the state of things in Australia.  Eva has come home these first few days with barely any food eaten and a full-ish water bottle.  She's been ravenous and tired after school every day.  Yes, she's learning new things (I think!) but I feel somewhat underwhelmed.  
I've been so strongly advocating for Eva to be in a mainstream school and to receive a proper education yet one of the first things she was asked to do this week was choose the colour blue between a choice of green and blue. Then yellow between yellow and brown.  I felt affronted on Eva's behalf!
I know they need to know where she is at but I feel that assuming competence is the best approach.  We have a meeting next week but there's so much to tell them about I hardly know where to start...  

Monday, January 14, 2013

If I could change just one thing...

As I was helping Eva eat her lunch today I mused if Rett syndrome could be reversed in just one small way what would be the best thing for Eva.  Would it be to talk again or get her leg strength back to walk. Would it be to not get gut pain or tremors or breathing difficulties?  I'm not sure what she would choose but me, I would get her hands back. For her to be able to use them would give her so, so much. She'd be able to propel a wheelchair and be independent, she'd be able to type out a sentence, turn the pages of a book, wave hello or help, or goodbye, sign to me or others, eat and drink by herself, open a door, a cupboard or a toybox, turn the pages of a book, type an instruction or search for a tv show, play with toys and finally change Barbie's dresses all by herself.  It is ridiculous how much pleasure I got out of thinking about all the wonderful things she COULD do if she could just use her hands again...

The latest Rett drug trial of drug "NNZ-2566" by Neuren Pharmaceuticals is showing amazing new growth of dendrites in the brains of those trialling it.  It may have been originally designed for those with concussion or Traumatic Brain Injury (TBI) and has been researched and funded quite extensively by the US Army for it's soldiers with TBI caused by blast exposure, but the overlap between TBI and Rett syndrome has meant new and exciting potentials for the Rett community worldwide.  NNZ-2566 probably wouldn't restore hand-function but if it could help Eva do just a little bit more of everything then I'd jump at the chance for her to use it.  We are waiting very impatiently. The CEO's presentation to shareholders of Neuren is well worth a read - http://www.neurenpharma.com/ssl/cms/files_cms/NEU%20CEO%20AGM%20Presentation%20May%202012.pdf

In the meantime I've been coming up with some more catchy names for NNZ-2566 - how about RettBackAtYa, BrainGRO, DendTRITON, IGF-1-upmanship...

Monday, January 7, 2013

Rett syndrome in an instant

In an instant the realities of Rett syndrome can come crashing in. Today I read about Rosie who died from complications of Rett syndrome. She was just 14 and the news of her death and that she had Rett syndrome, is all over Britain.  It's not because of Rosie though that suddenly Rett syndrome has catapulted into mainstream news, it's because her sister Coleen Rooney is famous - in her own right as a presenter and product endorser but also as the wife of Manchester United and England football star, Wayne Rooney.

Suddenly there are now people describing their life with Rett syndrome on mainstream Sky news. I heard the words "..epilepsy, autism, cerebral palsy and parkinson's all rolled into one little girl. Add to that breathing difficulties and permanent curvature of the spine and being fed through a tube..." and that's all I need to hear before the tears streamed down my face and I was reminded of how well Eva is today and how unwell she could be tomorrow. I'm reminded of how close we are to a cure yet how far there is to go before it is assured to be safe and beneficial. I'm reminded of how such suffering can occur in one little body and yet how fortunate some of us are to have our daughters born in a safe, prosperous country with medical assistance that supports people with disabilities. 

I was going to start my new year's blog post about how excited I was to hear of the progress Neuren Parmaceuticals is making with a new drug that will benefit girls with Rett. I was going to share my new year resolution of doing everything I can this year to raise money and support and awareness of Rett syndrome.
Another day..