Rare.

She is rare.

1 in 14, 000. That’s how rare she is. Sotos Syndrome affects approximately 1 in 14,000 persons, caused by a sporadic or familial mutation or deletion of the NSD1 gene located on chromosome 5.

But so far, Georgia’s rare hasn’t really meant very much for us at all. In fact, I find myself almost holding my breath waiting to cop the full brunt of this ‘rare genetic condition’ (if it ever comes). Yes its extremely early days, and whilst we understand there is a higher chance Georgia may have certain behavioural issues like ADHD, autism and/or some degree of intellectual or learning difficulties as she gets older, so far the early indications are quite positive. Sure Georgia is definitely growing at a rapid rate due to her condition (she’s now in 12-18 month clothing sizes at just 6 months of age) and yes she is a little delayed in some areas (not all though and so far not by much), but that’s it. That’s pretty much the extent of what her rare has meant for us as a family so far.

I know this isn’t the case though for a lot of other families with children affected by Sotos Syndrome and I think it’s important to acknowledge this from the start. Some children suffer from such severe hypotonia (low muscle tone) they must be handled like a premature baby for the majority of their first year of life, unable to move much on their own at all, causing significant developmental delays. Some have such weak mouth muscles they are unable to suck and swallow properly, and must be fed from a G tube (a tube surgically inserted through the abdomen in order for food to be fed directly into the stomach) until they are taught how to swallow through ongoing therapy. And some have life consuming medical issues in their first years of life, with so much of their time spent in and out of hospital instead of settling into their new family homes.

Highlighting these things isn’t my opportunity to boast about how well Georgia is doing in comparison (despite the fact she is), but I guess it helps to emphasise that to say we are grateful for how happy and healthy she is so far is a gross understatement. Her rare has truly given us a new lease on life, and in a really good way.

But the hardest thing about Georgia’s rare I struggle to accept on a daily basis is what it means to the medical world. At just 6 months of age Georgia has seen more medical specialists than I have my whole life. Thankfully, these appointments have enabled us to rule out any major health concerns but as I walked out of these appointments one after the other alarm bells were ringing as I joined the dots in my head– the cardiologist, nephrologist, ophthalmologist, neurologist, specialist paediatrician- none of them had any experience with Sotos Syndrome. None of them. Some had never even heard of it before meeting our George.

Far out (I’m thinking to myself at this point and simultaneously cursing at the universe). You mean to tell me that despite the fact we live in Melbourne, arguably Australia’s best city for health and medical research purposes, when it comes to my daughter’s diagnosis I’m pretty much on my fu*cking own.

Yes.

You carry an incredible sense of vulnerability around on your shoulders raising a little girl who is so rare because to the medical world, her rare is the unknown. It means that you become the expert educating the doctors. You feel totally obliged to know absolutely everything there is to know about her condition because no one else really does. It’s a protective mechanism really. Your fight over flight instinct. I’m already used to doctors asking me ‘is this normal for her?’ and I’m scared shitless thinking about the day something might happen to Georgia and me not knowing whether it is or not. So I’ve read every medical journal ever published on Sotos Syndrome and often find myself far too engrossed in online publications about genetics and chromosomal abnormalities late on nights when really I should be getting some sleep. I sometimes think maybe my somewhat anal approach to all of this is largely a reflection of my personality and parenting style, but then I think it’s too important not to be this way; this is Georgia’s whole life.

Georgia’s rare also means she is eligible for government funded early intervention services. These are specialist support services available for children diagnosed with conditions and/or disabilities aimed at enhancing their development prior to school age. When Georgia’s designated caseworker first called to introduce herself, my initial gratification soon turned to disappointment as she proceeded to tell me there was a current waitlist for services of approximately 12-15 months; the first year and a half of Georgia’s life. My disappointment was short lived though because I quickly realised this didn’t really impact on Georgia too much at all. We are lucky enough to be in a position where we can afford private therapy to help her as much as possible, and I am also able to be at home with her to dedicate an hour or two out of my day to this. But what really pissed me off is what this means for so many other families. I keep finding myself thinking about it and it makes me feel sick in the stomach. This waiting list means that for those first 12-15 months of your child’s life where so much happens in terms of physical, mental, social and emotional development, if you are unable to get the help and services your child needs, you have no choice but to watch them fall further and further behind. You're helpless.

Now where is the social justice in that? It just doesn’t exist.

Georgia’s rare has really forced me to put myself in those other parents’ shoes and consider how this would feel. To be in the position where you could not help your child. It’s an extremely uncomfortable thought and I honestly don’t think I would cope in that situation. Actually, I know that I wouldn’t.

But at the very least it makes me extremely thankful that her rare has landed where it has.

And that’s with us.