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.