Hunter syndrome – a mother’s journey
Brought to you by TakedaFor most young children, the occasional cough, cold and even the odd ear infection might be passed off as an unpleasant rite of passage. Some people might even go as far as describing these illnesses as necessary for growing immune systems. But for a small number of babies, a repeated cycle of common childhood illness can point to Hunter syndrome (also known as mucopolysaccharidosis type II; MPS II), a rare genetic disease that affects one in every 162,000 new born children, almost exclusively males.
Because of the way it first presents, Hunter syndrome can be difficult for doctors to diagnose. Symptoms differ in each child and frequently overlap with common childhood health issues. But Hunter syndrome is a progressive disease with effects that can be life-changing for the child and the family. Early awareness is key.
As a mother of two boys with Hunter syndrome, Toni Ann describes their journey so far.
‘Aiden was born a beautiful, healthy baby boy, but he had frequent ear infections that we were told were typical. He had two sets of tubes put in his ears, and then his adenoids removed when he was a year and a half old. He got colds a lot.’
These symptoms alone would not normally be ‘red flags’ that could indicate Hunter syndrome. But sometimes when ear, nose and throat conditions occur in combination with other symptoms, such as a hernia, or problems with movement and developmental delays, then you might suspect something needs to be investigated further. Some boys start growing at a normal rate but begin to fall behind in height, they have big bellies and their hands and fingers might appear bent – or ‘clawed’.
Speaking of this, Toni Ann says, ‘When he was about 2 years old, I noticed Aiden had a speech delay, but we thought he would catch up. He 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); he wanted to have him evaluated.’
As a genetic disease, Hunter syndrome, can run in families. This means that Aiden’s brother, AJ, had a 50% chance of being born with Hunter syndrome, and it turns out that he did have it. Their mother describes further;
‘With AJ, I didn’t notice any symptoms at all. But when Aiden was diagnosed and the geneticist pointed out some things about AJ, that’s when I noticed all of these things. AJ was 18 months and not walking yet. He also had speech delay, and just 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, it was anger – a lot of emotions including shock. The worst part is that it hits you all at once. It was rough. I had to catch my breath. But by the next morning my husband and I thought, alright, 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 boys require a lot of attention and time. I always have to keep my eyes on them because they get into things, they get outside, they 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 a follow up, or a 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 like to be outside, we are very outdoorsy people, and the boys like it too. We’ll play with them and go to the beach.
The support has been amazing to say the least. Our whole community knows the boys. We’re all just very positive all the time. No negativity. It’s just all positive, happy, hope, 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 that my boys wake up, it’s a great day. And we look at everything in a completely different way. It’s changed us for the better. My boys have taught us a lot. You know, they may not be able to speak much but they’ve changed us as people for sure.’
A long list of childhood illnesses and repeat visits to your pediatrician can be worrying. If you notice a combination of the symptoms mentioned in this story, talk to your doctor.
Hunter syndrome affects people in different ways. Not everyone has the same symptoms or the same severity of symptoms.