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"I am a first time mother learning to raise a little girl who is rare."

I am a first-time mother learning to raise a little girl who is rare. My daughter Georgia was born on the 23 April this year. At just five weeks old she was diagnosed with a rare genetic condition called Sotos Syndrome. I’d never heard of it before.

Sotos Syndrome is a genetic condition causing rapid physical overgrowth during the first years of life. Georgia will be significantly taller than her peers and have a much larger head than other children her age. This accelerated growth will continue into her teenage years. Ironically, her rapid physical development will likely be accompanied by delayed motor, cognitive and social development. Her muscle tone is abnormal making it harder for her to move efficiently without ongoing physical therapy, and speech for children with Sotos Syndrome is usually delayed and impaired. Some children with Sotos Syndrome never learn to speak at all.

It is not a devastating or life-threatening condition, though it certainly raises many formidable challenges. It has been described to my husband and I as a spectrum disorder – some individuals are severely affected and require lifelong care, and for others the affects can be quite mild, and for these individuals, the gaps in early delays begin to close as years go by.

We don’t know where Georgia sits on this spectrum; not even a clinical geneticist could tell us this. So far though, Georgia is doing incredibly well and I can’t wait to tell you a little more about her soon.

When Georgia was diagnosed it was the hardest time in my life. Nothing could ever prepare you for the phone call you receive to inform you your child has a genetic syndrome. That phone call floored me. I hung up the phone and instantly felt sick and numb all over. I realised permanent damage had been done. I knew things would never be the same again. A piece of me had been broken, my heart had been shattered, and I felt helpless and alone. So far throughout my life I had always set my own challenges and made myself accountable to overcome them. This was a challenge I didn’t want but had no choice but to accept.

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"This was a challenge I didn’t want, but had no choice but to accept." (Image supplied)

For the next few weeks I was in a state of shock and it completely took over my sense of self. I didn't know who I was anymore. I grieved every day. I cried. I suffered from anxiety and depression and my doctor prescribed me medication at the time to help me cope with this. I was just struggling so much to accept her diagnosis.

After a while, I just didn’t want to feel like this anymore. It was exhausting. I wholeheartedly wanted to accept things and move on, but I just couldn’t and was struggling to figure out why?

One afternoon, I came across a brilliant essay written by an American author named Heather Kirn Lanier. Like me, Heather’s first child a little girl named Fiona was born with a rare genetic syndrome, Wolf Hirschhorn Syndrome. The prognosis for Wolf Hirschhorn is much more severe than Sotos Syndrome:

  • Mortality rate is estimated at 34 percent in the first 2 years of life
  • Intellectual disability ranges from mild to severe
  • Most of the patients do not develop active speech
  • Only a few learn to walk

The essay was called ‘Superbabies Don’t Cry’. It was influential. Thought provoking. Inspiring. The most powerful essay I’ve ever read and I’d encourage everyone to go away and read it. She recounts a very similar experience to my own: the shock of receiving the diagnosis, the struggles of coming to terms with it that inevitably followed, and how it ultimately changed her as a mother and a person; and in a really good way.

I realised that Heather had the courage to say the things I too was feeling deep down, but just didn’t have the guts to admit to myself. And this self-denial was holding me back.

Listen: How to talk to children about disability. (Post continues...)

She made me realise that I thought I was making a ‘Superbaby’. When I was pregnant with Georgia, I did everything right. I abstained from alcohol. I ate leafy greens, oily salmon, a handful of nuts daily, and took my prenatal vitamins religiously. I believed I was doing everything I could to ensure my baby would be as healthy as possible. I thought I was in control, but how naïve this thought was. Because you see, to quote Heather, Georgia’s syndrome "existed at conception, even before the dawn of her creation." She is missing a tiny piece off one of her fifth chromosomes, "and this piece was missing in either the egg or sperm that conceived her."

In the months that followed Georgia’s diagnosis I learned a lot.

I learned that you don’t know how strong you really are, until being strong is the only option you have. Her diagnosis was overwhelming and for many days I struggled to get out of bed in the mornings. But there was so much to be done I had to get on with things. I booked appointments with various medical specialists, filled out piles of paperwork to ensure Georgia could receive the support she is entitled to, and learned to be her advocate in a world full of doctors who looked at her with immense intrigue and curiosity; they saw a new rare clinical subject to add to their resumes.

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I had to learn how to balance being a first time mum with the deep-seated obligation I now felt to fulfill the role of being Georgia’s personal therapist. We are told early intervention in the form of physical and occupational therapy for babies diagnosed with Sotos Syndrome is key to ensuring they have the opportunity to reach their full potential. There are days I am so tired I can barely keep my eyes open but I commit to her daily therapy regardless. I work tirelessly with her every day and some days the slightest improvements feel like my greatest accomplishments.

I learned that I’m not always strong and brave. I worry. I cry. I get nervous and anxious often thinking about Georgia’s future. Those closest to me often tell me how strong I am, but a lot of the time I feel anything but strong. I’ve learned that it’s ok though to be vulnerable and before Georgia was diagnosed, I think for too long I had too much pride to bear my own vulnerabilities.

"Those closest to me often tell me how strong I am, but a lot of the time I feel anything but strong." (Image supplied)

I read a quote by an author named Ann Voskamp not long ago which I think is fitting to share:

“The world has enough women who live a masked insecurity. It needs more women who live a brave vulnerability.”

Surprisingly, I also learned that things were going to be just fine.

In Super Babies Don’t Cry, Heather explains:

“During that first year, Fiona’s syndrome revealed itself to be simultaneously life-altering and, in some strange way, just fine. A new normal."

Georgia is our new normal. Her genetic syndrome will no doubt have an impact on our family for the rest of her life, but we will just deal with it like we have so far. I have vowed to myself to never let Georgia feel different to any other kid, and so far, living our life the same way we would if she didn’t have Sotos Syndrome, I believe is the first step needed in order to achieve this. There will come the day when I have to tell Georgia about her syndrome. But by then I hope to have instilled a great deal of self-belief and confidence in her that she won’t view this in such a negative light (I know this will be no easy feat).

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But what I didn’t learn until after I read ‘Superbabies Don’t Cry’ was this.

“The problem, it became clear, was mine. I wanted her different. The daily prayer inside me was an impossible wish to scrounge the earth and find that missing bit of her fifth chromosome. I imagined it was buried among fossils in an ancient, surreal sand dune.”

There it was. The reason I was still struggling to accept her diagnosis; deep down I wanted her different.

Heather continued: “These avenues of thinking were futile because they all led hypothetically not only to a child who didn’t have Wolf-Hirschhorn syndrome, but to a child who wasn’t Georgia at all. And I wanted my daughter.”

Tears welled in my eyes as I read that paragraph a few months ago. I was nonsensically living in the hope that her condition would just magically go away. I was searching for ways to fix something that was not fixable and questioning myself about things that there just weren’t answers too.

“What had I done wrong for Georgia to have Sotos Syndrome”?

“Is there anything I could have done differently”?

“Was this the universes way of saying that we shouldn’t have had kids”?

And this way of thinking, I now recognise, was just so wrong.

So I’d like to tell you about my daughter.

Georgia has changed my perspective on motherhood in a very profound way. I think as expectant first-time mothers we all inevitably envisage what we want our unborn child to be like. Whether it’s to have her mother’s eyes, her father’s complexion, or a witty personality to humour them both with ease. But I no longer desire any of things in Georgia and I know that when I have more children in the future – there will be no expectations, just sheer gratitude.

To me, I may have learned the hard way, but being a parent is not about any of those superfluous things. It’s pretty simple. To ensure Georgia feels immensely loved as an important part of our family. To ensure she grows up in a happy, healthy and caring environment, and fostering in her an unrivalled sense of self-confidence. She will be ‘different’ by societies standards, but to me her different is now what sets my soul on fire.

She has taught me to notice and appreciate things with my eyes that most people would never bat an eyelid at.

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"She has taught me to notice and appreciate things with my eyes that most people would never bat an eyelid at." (Image supplied)

Georgia grins from ear to ear when her daddy walks in the door each afternoon and she hears him calling her name. She also thinks he is the funniest person in the world and laughs with him every day. We knew there was a chance she may never smile or interact with us.

Georgia loves food. We were told there was a good chance she would have to be fed via a gastric tube for the first 18 months of her life as a lot of Sotos babies need to be taught how to swallow. We are so grateful she can eat normally.

Georgia started sitting unassisted at six months old and is starting to army crawl across the floor. We knew it was highly likely she wouldn’t learn how to sit until after her first birthday.
Georgia is no ‘super baby. ’ But she is exactly who she is meant to be and I will never take her small achievements for granted.

I’ll finish with one more quote - this one is a little more personal. It’s by another mother I have connected with since Georgia’s diagnosis. Her name is Sarah Samuelson and she is a mother to three beautiful daughters who live in the United States. Her youngest daughter Lucy is five years old and has Sotos Syndrome. Sarah tells me Lucy loves to look at the Instagram photos I post of Georgia and adoringly calls Georgia her ‘Sotos Sister’.

Sarah is an artist and has recently completed a series of paintings depicting mothers standing in fields of roses holding their babies. Her inspiration for these paintings is her metaphor for motherhood:

"Motherhood is like standing in the middle of a beautiful field of roses, it looks beautiful, smells wonderful, and it is different from anywhere else you’ll stand. But there are those tiny thorns everywhere and the journey into the patch of roses would have surely come with scratches, it's hard to navigate without getting myself and my daughters snagged and hurt, and the journey leaves us with scars…

"... But it's where I want to be."

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