Living with Hunter Syndrome

Silas’s Story, as told by his mom, Natalie

Natalie, caregiver

Silas, who lives with Hunter syndrome, and his parents

Birth and first symptoms

My husband and I felt like the luckiest people on earth when we held our little boy for the first time. Around the age of 6 months, we noticed that the back of Silas’s head was becoming flatter and that he had difficulties holding his head up. He also didn’t like being laid down on his stomach.

First mention of an underlying disease

At the age of 1, Silas became ill with a severe cold, high temperature, and obstructive bronchitis. A doctor asked us if Silas’s head circumference had been checked because he thought his head was unusually large, which upset me. To me, our little boy was perfect and yes, he had a big head, but Silas was a big child.

Silas, 6 months

Finding an answer

Silas, age 2

When he was 2, our little boy had an MRI scan. I was sitting on the hospital bed with Silas on my lap reading through his favorite book when the door opened. I looked at the expressions of the two doctors and immediately knew that something was wrong.

The consultant told us that the MRI showed an abnormality that might be a symptom of a rare disease called mucopolysaccharidosis. I was completely paralyzed. I couldn’t even cry.

We had to wait a month for the blood test results to confirm that Silas had Hunter syndrome. It’s hard when you think your child is healthy and then you are told you’ve got a really, really sick child who could die. It was horrible. It is still horrible.

To learn more about the signs and symptoms of Hunter syndrome, click here.

While Silas has a lot of fun at kindergarten, the downside is that he is exposed to illnesses from the other children at school, and, of course, he always catches them. It was also hard to find a nursery and school that could take him, due to his learning difficulties. He’s almost like a baby as he doesn’t speak more than a few words.

There is also little interaction from him; we cannot play together in the same way that you can with healthy children. We have to ensure that all doors are locked, because he’ll just run out if they are open. We have to close every cupboard, because he might play with something sharp and injure himself or his friends. These are problems we face in our everyday life.

Silas, age 6

Back to All Stories

Natalie