The story of Azaria
When Azaria was born, she was so small compared to my first daughter. She had problems from her first day in the world as she struggled with feeding immediately. She also had bilateral talipes (bent feet) which they decided would need a physio but said was just due to the way she’d been positioned inside me. Little did I know that what would follow would mean that even today age 12 she still has that therapy as part of her life on a twice weekly schedule, that she wouldn’t meet any milestones and I would be told she would never walk -that last one I’m please to say we did prove them wrong on, but not until almost age 5 with every piece of equipment from multiple orthotic splints, gaiters, specialist footwear, standing frames, walkers, specialist trikes, parallel bars and a whole host of other therapies to compliment and build the strength and co-ordination she now has – she cannot walk for long but she can walk enough to zoom about the house causing a merry mayhem that I frequently chastise myself against being frustrated of the whirlwind of chaos she leave behind as she goes.
The early years were a struggle. Time in and out of hospital with her poorly with recurrent respiratory infections and struggling with feeding, growth, reflux and constant tests and on top a hard, slow, painful realisation that our daughter not only had difficulties in every single area od development but that she clearly had lifelong special needs and this in turn would not be something anyone would have answers for as to the cause. As more and more milestones were missed, more and more professionals and hospitals were added. And beyond that many of those professionals and hospitals in turn started to be replaced by more specialised professionals at the UKs leading hospital for sick children -the local care was not enough due to the complex health issues that she slowly started to stack up before I could even take a breath to realise, like a child sneaking cookies from a cookie jar.
I actually started to loose hope of ever finding the answers, I was so sick of pinning my hopes on each new test or each next appointment being the one that would unlock her little mysteries she held, Was it my fault? why can’t they find whats wrong? Is there a treatment for whatever she has and I can’t access it because we don’t know. To build your hopes so many times for an answer and every time get a test back as normal was our crazy normality.
How could I have the most ‘normal’ child on paper yet she is severely disabled with complex health needs, struggles to understand and cope with the world around her and is completely dependent on us for everything. Worst still I could not find another child like her -It was such an isolating place to be and I pretty much shut myself away into a routine of managing, trying to develop her as best I could as that was all I could do to help her. It’s the most heart-breaking part of being a parent to a child like Azaria, not being able to make things better for her, not even for her to be able to tell me of her worries, her pains, her thoughts -I have to try my best to guess it all from her little eyes and her movements, even now at age 12 she has no words, but she can make her needs known for the essentials and man she is loud! She is a tiny little dot (size of 5 yr old at age 12) but also totally is such a happy little girl and has the best smile and the most infectious giggle ever!
It wasn’t until Azaria was 6 years old we finally got a diagnosis -it was so rare that it put us in a category all of our own! Only 1 other girl known in medical literature in the world at that time – she had a single point mutation (one letter change) to the NAA10 gene on the X chromosome -they called it NAA10 related syndrome -since then its actually changed name -a complex story but this is what happens when something is so rare that you are part of the history and changing picture as to what the syndrome even entails! It’s so rare that we have only one genetic researcher in the world who we are grateful for but its just not enough and now 6 years on from diagnosis and having set up a small but growing Patient Organisation we have now grown to around 80 or so cases worldwide -that’s a 1 in 11million chance of having this Syndrome!
Azaria has Ogden Syndrome, so now with the amazing parents of these children that have become my second family in our close-knit community, led by a UK and USA united bunch of awesome and dedicated loving parents, we all take on the enormous struggle of journey to grow a successful worldwide Patient Organisation together and fund research efforts towards a treatment. Wish us luck!
To learn more or to please help support us visit: www.ogdensyndrome.org
twitter: @naa10gene  https://twitter.com/naa10gene
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