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, October 25, 2012

What's wrong with her, dear?

Since getting our disabled parking permit I've felt slightly fraudulent parking in the disabled parking bays while simultaneously gloating that I get a park so close to where I need to be.  The fraud part comes from a very strange place within me... I seem to have been unaware just how disabled Eva really is for a really long time. It's not that I don't think about it often - in fact Rett syndrome crosses my mind daily whether we are together or not. But I realise that I have been waiting for passers-by to tell me off for parking in a space reserved for the disabled. As though I were a fraud for having the permit. Except that situation has never eventuated because clearly it's plain for all to see except me. 
I make the daily assumption that people see the little girl beyond her crossed-eyes, her hands going double-time into her mouth, her garbled vocalising and that she is a full-grown five year old in a buggy. How I manage to do this is beyond me...maybe it's because she's an only child.. When people stare I usually smile and imagine they are thinking what lovely thick hair she has or what long eyelashes. Every now and then it hits me quite suddenly: I'm pushing around a 15kg girl who sounds like a baby and often is unable to even look at the person speaking to her, let alone answer 'hi'. And sometimes she shakes like she's possessed. Which seems to be particularly frightening for parents of young children around us (although they are never compelled to ask if we are ok!).  It confounds me that people don't attempt to understand her quick eye-gaze, her miniscule smile and her lightning fast frowns and I forget how unnerving it is to ask a child a question and get no verbal response. But it offends me beyond words when people make the assumption that she is intellectually disabled simply because of her physical disabilities. Don't get me started on that one.
The other week while Eva slept in her buggy and we wheeled around my favourite antique/junk store (my Breakfast at Tiffany's-style "happy place") one of the older staff came up to me looking very kindly and asked "What's wrong with her, dear?".  My initial response of "Oh, she's just tired, it's been a big day" was of course not what she was really asking and since I had been there for around half an hour and had already found my happy place I was able to answer her questions with honesty about the syndrome, how it affected Eva and in turn what effect it had on me and my family. It was a lovely honest conversation that happens so rarely it left me feeling more empowered to speak about this syndrome that so few have heard of and also made me realise there's something quite nice about being unaware of just how disabled she looks.  Perhaps it's because she can be a cheeky monkey, a little ratbag and a sweet darling - all by using her talking stick and facial expressions - that I can look past her severe physical limitations. Long live delusion for as long as possible I say!

Wednesday, October 17, 2012

Rett syndrome

Rett syndrome presents so uniquely in each child that if it weren't for a couple of similar signs I'm sure it would seem like every single child had a different syndrome.  For Eva, the main criteria that kept my late-night google searches returning to Rett was the fact that she had stopped babbling and was putting her hands in her mouth constantly and not using them to hold things.  Before we had the genetic test and before the Paediatrician pooh-poohed my suggestion of Rett syndrome I turned to the internet constantly to figure out what was happening to my baby who at 9 months was still not crawling or sitting on her own. And I kept seeing Rett syndrome in the outcome. But at that stage she only showed two of the five main criteria. She didn't have cold feet or hands - in fact the opposite was true. She wasn't disengaged or crying - although later at around 1 year old she started staring through us for about a month until we took her to a naturopath/acupuncturist who treated her so quickly it was completely over within two months and didn't return. And she wasn't having seizures and still hasn't.
Looking at a list of what could affect her in the future if she was diagnosed with Rett syndrome I was terrified that it could be true. But I was equally terrified of never finding a diagnosis. I desperately needed something to grab on to and try to treat as best I could. A non-specific diagnosis would have almost been worse than getting a diagnosis of Rett. For 18 months in limbo-land while the doctors were doing all the tests besides Rett we just did the best we could and told ourselves that things were going to turn out ok. It was just a blip and Eva would one day miraculously recover. I would try and make Eva hold things, I would try and make her repeat sounds, I would try and make her play on the equipment at the park. But then Eva started crying. A lot. And biting. A lot. It took quite some time to figure out that the crying was severe gastro-intestinal pain from which a hot-pack and singing would help immediately. The biting was more of a mystery until we figured out it was Eva's way of communicating to us that she needed something or wasn't happy. It quickly stopped when I started talking to her instead of about her and checking in on what she might need.
Down the track now she's five years old she still gets severe tummy pains sometimes and she's only bitten me on occasion when she's extremely frustrated or tired. She still has hot (and tiny) feet and isn't getting seizures. But she cannot talk or sit herself up, she can't feed herself or walk and the only thing she can hold with any consistency is the handle of her sippy cup. She has a smart brain and a quick sense of humour that remain mostly unknown to those outside her inner circle. It's physically a bit like having had a 6 month old baby for five years.
But the possibility that this could all be reversed in her lifetime is the light at the end of the tunnel. Which is why Rett awareness is so vital to the research and for funds to be directed towards the right scientists. It's the reason why the Rett Syndrome Research Trust, Cure Rett, Girl Power to Cure and the International Rett Syndrome Foundation exist - to direct funds towards developing a cure. Given that Rett has been able to be reversed in the lab it's surely only a matter of time... With an estimated 12 girls born every day with Rett syndrome there's an awful lot of parents waiting and hoping.

Friday, October 12, 2012

Where did October go?

There are some months that I feel like I just get into the swing of things by the time it's almost over - October seems to be turning into one of those.  October is Rett Syndrome Awareness month and I had so many things I thought I'd blog about and I can get to those eventually I suppose..  But our month so far has been about our kindy holidays (Spring holiday) and we have been trialling the Tobii PCEye - an eye-gaze computer.  It's so fantastic and so incredibly inspiring to see what Eva could possibly do with it.  The software is great, the practice games were great and we even used the alphabet board to see if Eva would like to do some spelling.  She spelt out biib (bib) no. I asked her whether she wanted to not wear bibs anymore (we mostly just use them at home) and she gave a very clear no. So we've stopped using bibs. Fair enough - she is five after all.  It has led us to start asking Eva all kinds of things that we have taken for granted since she can't vocalise her dislike: Lavender in her bathwater (that I've been doing since she was a baby)? No thanks Mum.  Daily calendar duty (picking day, month, date, weather) that we've been doing all year at breakfast? No thanks Mum. So it's no more assuming from us anymore!
We've also been doing holiday things - going to the park, picnics, trips to the beach and generally just resting (around the pre-scheduled appointments I didn't realised I'd made for the holidays).  Spring in Australia is an incredibly lovely time - warm, sunny, flowers blooming and one tree, the Jacaranda, is in full Rett Syndrome Awareness colours - purple! They are blooming madly and leaving purple floral carpet all over the place. This first pic of Eva was taken amongst the Jacaranda blossoms with her Mama (grandma) before we had a diagnosis.

Eva aged two 1/2
Jacaranda blossoms

Spring holiday beach trip!


Building sand castles