The lucky ones.

Georgia just reached 4 months of age. For just over 17 weeks I have been her mum. It feels like a lifetime ago that she was born and I can’t imagine my life without her now. I decided to wait a little while before writing again because I wanted to take some time to adjust to being Georgia’s mum.

The last few months have been extremely busy, demanding at times, overwhelming, emotionally tiring, informative and full of adjustments. After Georgia was diagnosed with Sotos Syndrome it quickly dawned on me that my first experience of motherhood wasn’t going to be like most other first time mums – that was a given. But what I never expected is just how much Georgia, my little four month old daughter, would teach me just by coming into my life. She has changed my life for the better, and in ways I don’t think most people will ever truly appreciate or understand. I’m not sure that’s possible unless you have experienced first hand what I have been through. But I want to share what I’ve learnt so far anyway, since becoming Georgia’s mum.

I’ve learnt that I can navigate the medical system pretty damn well

When you’re daughter is diagnosed with a rare genetic condition, you quickly learn she is prone to a range of medical issues: heart, kidney and other organ defects, vision and hearing problems, low muscle tone, brain abnormalities, the list goes on. So, being a diligent parent, you get everything checked.

Georgia has had an echocardiogram (an ultrasound to check the structure of her heart and monitor the movement of blood flow in and out of it). Her heart is good. She has had a cranial ultrasound to check her brain for structural abnormalities and hydrocephalus (fluid on the brain). Her brain is fine.

I’ve had her eyes checked by an ophthalmologist. Her vision is good. She is slightly long sighted but the doctor is confident it doesn’t warrant the need for glasses during childhood. She also passed her newborn hearing test.

She has had a kidney ultrasound to check for renal system abnormalities. Georgia only has one kidney. Understandably, my initial reaction was ‘holy fucking shit my child has one kidney!’ But the doctor quickly reassured me that as long as she is passing urine properly (she is) and her kidney function blood test is normal (it was) – everything should be ok. Apparently having one kidney is quite common and unproblematic. Nonetheless, we are booked in to see a renal specialist just to be sure.

The biggest medical obstacle Georgia’s condition has caused so far is hypertonia. This is a medical condition that causes rigid muscles and difficulty with mobility and flexing, and muscle tension when resting. Thankfully, this only affects her upper body and not too badly we are told. Hypertonia is why she still struggles a little to keep her head off the ground during tummy time, is yet to gain complete head control, and can’t yet roll over. These are things that most babies just do on their own without having to be taught or assisted; and things most parents just take for granted.

Georgia has regular sessions with a private physio and occupational therapist to help her with this. They show me exercises to do with Georgia and I work so very hard with her every single day. After Georgia’s first session, the OT’s initial observation was bittersweet: “progress will be slow” she remarked. Fast-forward three weeks and this same therapist was absolutely astounded by Georgia’s progress. She put it down to my hard work and dedication; I put it down to my determined little girl.

That’s another thing I’ve learnt.

I’ve learnt not to compare Georgia to other babies

I’ve started taking Georgia to weekly Gymbaroo classes for stimulation and play. Georgia cant do what most of the other babies can do yet, and I often catch the eye of other mums looking over at Georgia and I with a boasting look on their face as if to say, ‘my baby can do that.’ But this doesn’t bother me. It used to, but it doesn’t anymore. I’ve learnt to say ‘so what?’ So what if Georgia can’t do that yet – she will when she is ready. And in the meantime, I’m going to enjoy my daughter thank you very much.

Don’t get me wrong; I think all mums have every right to be extremely proud of their baby’s early achievements and celebrate each and every one of them. But my point is I’ve learnt to measure and celebrate success very differently. Because for every ‘milestone’ Georgia reaches for the first time - rolling over, sitting, crawling, walking, talking – just know there has been hours of therapy behind each one. I’ve learnt to accept she will do all of those things, just in her own time. And I’m ok with that, because you can bet they will be all the more sweeter when they come.

I’ve also learnt to say ‘so what?’ to the fact that Georgia is going to look a little different. She will be much taller than other children her age, and she will have a disproportionately larger head (at least during early childhood). Her genetic mutation will cause these physical affects. But 'so what?' I’ve learnt that if there is one person that has to instill this type of confidence and attitude in my daughter, it’s me, her mum.

I’ve learnt to connect with complete strangers in ways I never thought possible

I truly believe social media is the devil of our time for so many reasons. But admittedly it has been my saving grace since Georgia was born because it has enabled me to connect with other mothers and families in Australia with children diagnosed with Sotos Syndrome. It’s the strangest feeling. You find yourself reaching out to these complete strangers you feel as though you’ve known your whole life. You feel an instant connection. As another mother eloquently explained it to me: “ It feels like my heart is knitted to your heart”. And it really does.

The advice I have received from these mothers has been by far the most poignant and moving. On those bad days, it’s their words that really resonate with me:

“I know just how overwhelming this is for you and it breaks my heart to know that other people feel the way that I felt in the early days. Just know that it’s not a forever feeling. I promise you it doesn’t hang around forever. As Georgia grows and becomes her own person you will see that she is the greatest blessing in your life; she will change it for the better and in a way that most people will never truly understand. What drives me each day as a mother of a child with Sotos Syndrome is that it doesn’t stop progression. Unlike so many other genetic conditions where unfortunately children decline in ableness, Sotos children undoubtedly progress and excel, just much slower than other children.”

“Enjoy your daughter for who she is, delight in her uniqueness. Don’t allow the world or medical profession make her someone she is not, nor force her to be within one standard deviation from the mean, or whatever statistic she is being compared too.”

These mothers have taught me to relish the fact that Georgia is going to be Georgia. Her own unique person. She will be refreshingly different – and whilst I once found this daunting, I now think it’s exciting.

I’ve learnt that I’m glad she has Sotos Syndrome

Well, sort of. Think of it this way, if you had to pull your child’s genetic diagnosis out of a hat, you’d find yourself feeling pretty bloody relieved to see the words Sotos Syndrome scribbled across the piece of paper you’ve managed to draw out by sheer luck.

Having Georgia has opened my heart and mind to a whole new world of rare genetic conditions and disorders I never knew existed before. And to be honest, a lot of them aren’t good. I’ve been reading another mothers journey about her 9-month-old son who received a Tay-Sachs diagnosis. Tay-Sachs is a rare genetic disorder whereby the nerve cells in the brain and spinal cord slowly destruct. Helplessly, this mother watched her little boy slowly deteriorate. He went blind, deaf and could not move an inch of his body. An oxygen machine kept him alive; he endured harrowing daily seizures, one sadly resulting in his death at just three innocent years of age. It was gut wrenching to read and hit so close to home –just much harder.

It puts things into perspective doesn’t it?

Georgia may have Sotos Syndrome, but trust that she will be a happy and healthy little girl.

I’ve learnt that we’re the lucky ones; we have our Georgia and I wouldn’t change her for the world.