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Sylas's story

 Sylas was diagnosed with Sotos Syndrome at 15 months of age. Also known as Cerebral Gigantism, it is a genetic condition that causes physical overgrowth during the first few years of life.

 

Our son Sylas was born in August 2012, weighing 10lb 1oz and was 55cm long with a head circumference of 38cm. We were already aware of a problem with one of his kidneys before his birth but had no idea about the rare diagnosis that was to come. After his birth Sylas had a number of difficulties; he couldn’t establish sucking and swallowing, he was jaundiced, and had low blood sugar levels. He spent a week in hospital overcoming these hurdles and was put on prophylactic antibiotics to ward off infections.

 

At four weeks old Sylas had a nuclear scan to check his kidney function and the results were worse than expected. He needed surgery straight away to relieve the pressure on his kidney or else it may lose its function completely. Sylas recovered well from the surgery and continued to grow and grow, but he wasn’t meeting his milestones. I was concerned, especially because his head was disproportionately large compared to his body.

 

At eight months old Sylas started having Infantile Spasms a rare type of seizure. We suspected Hydrocephalus and the neurologist referred us to a geneticist to rule out any genetic conditions. At our first appointment the geneticist said that she suspected either an overgrowth disorder or a metabolic disorder. When we got home I searched overgrowth disorders and my heart skipped a beat when I saw images of children with Sotos Syndrome; they looked just like Sylas. I knew this was what Sylas had ticking off each diagnostic criteria; I felt the odd combination of relief, anger, guilt and grief. The geneticist clinically diagnosed Sylas with Sotos Syndrome in January 2014 and a blood test confirmed the diagnosis in January 2015.

 

Sotos Syndrome is also known as Cerebral Gigantism and is a genetic condition that causes physical overgrowth during the first few years of life. Children with Sotos Syndrome are often taller, heavier, and have a larger head than their peers. They usually have some degree of learning disability, delayed motor, speech, and social development and low muscle tone. The severity of Sotos Syndrome has a vast spectrum, and the biggest worry now is finding out where on that spectrum Sylas is.

 

One of the hardest things about a diagnosis of Sotos Syndrome is the lack of knowledge and support available. Most medical professionals have never heard of it, let alone treated someone with it. There are no official support groups in Australia to help or guide you; but we do have a Facebook group, which allows affected families to connect with one another. Government support is also limited as children with Sotos Syndrome; this puts strain on families to pay for much needed therapies and equipment.

 

Sotos Syndrome has presented us with a range of challenges that we never imagined we would encounter. Sylas has continued to thrive and overcome each challenge sent his way with the help of his vast medical team. Sylas is a very special child and is loved by everyone who meets him. I’m very privileged to be able to call him my son and can’t wait to watch him grow and continue to overcome all obstacles that are put in his way.