Hunter Syndrome a Mother’s Journey
3.95 million children were born in the US in 2016. For most of these children a cough, cold or runny nose is normal, but for 1 in 162 000 babies it can be the first sign of something much more serious: every parent’s concern. Hunter syndrome is a rare genetic disease which results in multiple health issues that progress over time. These issues range from potential cognitive decline causing children to lose learned skills, to becoming wheelchair bound. A diagnosis of Hunter syndrome changes lives forever.
Toni Ann’s two sons were unexpectedly diagnosed with Hunter syndrome. This is her family’s story.
“Aiden was a beautiful, healthy baby boy, but had frequent ear infections that we were told were typical. He had two sets of tubes put in his ears, his adenoids removed when he was a year and a half old, and he got colds a lot.
“When he was about 2 years old I noticed a speech delay, but we thought he would catch up. Aiden had occupational therapy, physiotherapy and speech therapy for a year. Then his pediatrician suggested we see a geneticist because of Aiden’s facial features (broad nose, large head).
“When Aiden was diagnosed and the geneticist pointed out some things about our second son, AJ, that’s when I noticed. AJ was 18 months old, not walking yet, had a speech delay and, like his brother, had ear infections as a baby so he had tubes put in and his adenoids removed.
“When we got the diagnosis of Hunter syndrome my reaction was definitely denial, anger, shock: a lot of emotions. The worst part is that it hits you all at once. I had to catch my breath. But by the next morning my husband and I thought, ‘this is the hand we’re dealt and what are we going to do about it?’ We came in contact with a lot of people who gave us hope. The support has been amazing.
“The boys require a lot of attention and time. I always have to keep my eyes on them because they get into things, get outside and wander out of my front door. A week doesn’t go by where we don’t have a doctor’s appointment, or specialist appointment, or follow up, or school meeting, but Aiden and AJ do it all with a smile. Their strength gives me strength. We like to do anything that makes the boys happy. Whatever they want to do, we all do as a family. We’re all very positive, happy and hopeful: that’s all we’ve got.
“I love every moment with them. I don’t take anything for granted. Every little milestone is huge for us. Every morning my boys wake up, it’s a great day. We look at everything in a completely different way. It’s changed us for the better. My boys have taught us a lot.”
Does Toni Ann’s story sound familiar? If you recognize the combination of frequent illnesses in your child and repeat pediatrician visits, talk to your doctor.