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.
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.
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.
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.
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.
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.
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.