'I knew there was something different about my sleepy boy'

He'd sleep through the night, and was very calm, but as the months progressed, I was concerned because he struggled to meet his milestones, and his head was much larger than other babies.  

When Sylas' teacher noticed her morning tea had mysteriously disappeared, she soon discovered the culprit. Five-year-old Sylas happily walked past giving his teacher a big chocolate and coconut covered smile.  

Sylas has Sotos Syndrome, a rare genetic condition that's also known as Cerebral Giantism. Sotos kids have large heads and pointy chins and they grow faster and bigger than other kids.

They also experience delayed development, poor muscle tone, and have speech problems. And just like Sylas, most Sotos kids do love their food.   Sylas was a big baby from birth, his head was 38cms, he was 56cms long and weighed over 10lbs. He had difficulty sucking and swallowing and was jaundiced, so stayed in hospital for a week.

At five weeks, he had emergency surgery on his kidney, or he'd risk losing its function completely.  

He'd sleep through the night, and was very calm, but as the months progressed, I was concerned because he struggled to meet his milestones, and his head was much larger than other babies.

Then at eight months he started having seizures. I took him to the hospital and was promptly told, "that's not a seizure."  

Sylas has Sotos Syndrome, a rare genetic condition that’s also known as Cerebral Giantism. Picture: supplied.
Sylas has Sotos Syndrome, a rare genetic condition that’s also known as Cerebral Giantism. Picture: supplied.

But it kept happening, so back to the hospital we went, and I was told I was googling too much! But I knew something was wrong and I refused to give up.

Eventually he was diagnosed with infantile spasms, a rare type of seizure. We thought he might have hydrocephalus, fluid on the brain; his neurologist referred us to a geneticist who said it was more than likely a metabolic disorder or an overgrowth syndrome.  

I started researching when I got home, and when I saw an image of a child with Sotos, it looked just like a photo of my son. When Sylas was 15-months-old, we got the official diagnosis of Sotos Syndrome. I felt in equal measures, guilt, frustration, sadness, and a sense of relief. At least we now knew what we were dealing with.

Sylas has Sotos Syndrome, a rare genetic condition that’s also known as Cerebral Giantism. Picture: supplied.
Sylas has Sotos Syndrome, a rare genetic condition that’s also known as Cerebral Giantism. Picture: supplied.

People would approach and ask, "what's wrong with him?" He's six now but looks like a 10-year-old and has the emotional capacity and intelligence of a toddler. I'm very honest about it, I don't try to sugar coat it, I just say he has Sotos Syndrome.

Once kids hit puberty, the overgrowth slows down, but he'll be taller than most.   Sylas is a beautiful, unique child. He has the most infectious smile and giggle, even when he's been in hospital having surgeries and tests done, he's always happy. He's also strong and determined. He's overcome so many obstacles in his young life.   He's come so far, but he's still miles behind his peers.

Sylas is also autistic, so he's quite insular. I've got four other kids, Lilly 10, Elijah 5, Abigail 3, and Felix who is just a week old. He loves them and they try to include him, they'll play tag, and Sylas just runs around with them. He doesn't really understand what they're doing and laughs, and they laugh along with him.  

I keep a journal and write down some of his adventures. It's called 'The adventures of sneaky Sylas.' One time we had a mud cake in the pantry, and it vanished. All we could find was a trail of crumbs through the house - Sylas devoured the whole thing. No wonder he couldn't eat dinner that night. Now we have to lock all the pantry doors.

Communication is his biggest struggle, he's completely non-verbal. He knows a few signs, he points and gestures, or he'll grab my hand and take me to what he wants to show me. Hopefully, he will talk one day, many kids with Sotos do.  

Sylas has Sotos Syndrome, a rare genetic condition that’s also known as Cerebral Giantism. Picture: supplied.
Sylas has Sotos Syndrome, a rare genetic condition that’s also known as Cerebral Giantism. Picture: supplied.

It hasn't been an easy road for us. Until the autism diagnosis, we had little support, he wasn't entitled to government funding to help with all the therapies he needed.  

He wears ankle-foot orthosis to help him walk. If we have a big day out, he gets fatigued and I push him in a stroller, hopefully, we'll get a wheelchair soon.

A lot of people do a double take seeing a big boy who looks 10 in a stroller!  

Having a child with Sotos Syndrome has taught me so much, but most importantly it's taught me patience. I'm the sort of person who if I want something done, I want it done immediately. With Sylas I've had to take a step back and relax, to allow him to do things at his own pace.  

A lot of people describe Sotos as being on the slow train taking in the scenery, rather than being on the express - they get there in their own time. And for now, with our little angel, we are all just enjoying the ride.    

 

This story originally appeared on kidspot and has been reproduced here with permission.