This site is intended for u.s. audiences
This site is intended for u.s. audiences
Learn more about MPS and find out how to get involved in raising awareness
MPS II (Hunter syndrome) is one of seven types of MPS disease, and is estimated to affect 1 in every 162,000 infants born. It is unique from the other types as it only affects boys (apart from in exceptionally rare cases). This is because Hunter syndrome is X-linked, meaning it is inherited differently than other MPS disorders. Simply put, this means that females can usually only be carriers of the gene affected by Hunter syndrome, whereas their male offspring can inherit and be affected by the disease.
If you have MPS II or are a caregiver for someone with MPS II, join our Community Facebook Page.
Hunter syndrome, like all MPS diseases, can be very difficult to diagnose because it affects each person differently. The signs and symptoms can appear at different times and often overlap with common childhood complaints.
Frequent ear infections
Persistent runny nose
Frequent colds
Recurrent watery diarrhea
Umbilical hernias
Joint stiffness
Inguinal hernias
Coarse facial features
Enlarged abdomen
Enlarged tongue and tonsils
By getting involved and raising awareness of MPS II this MPS Awareness Day, we can help patients and their families #ChaseTheSigns toward a diagnosis, and get access to the care and support systems that they deserve.
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Being aware of the signs and symptoms can help identify and diagnose patients with MPS II as early on as possible, saving valuable time on what can be a long and winding diagnosis journey. Similar to other forms of MPS, it is often a combination of common symptoms in rare clusters that can point doctors toward an MPS II diagnosis, so learning to look at individual symptoms in relation to one another is often the key to revealing their true cause.
The story featured here may not be typical of all people who have Hunter syndrome; symptoms can manifest differently depending on the severity of the disease.
Aiden had frequent ear infections, which we were told
are
typical for this age. He had
his adenoids removed but he was still a happy baby, then 18 months later, I had
AJ.
He
loved playing with his younger brother; they did everything together.
At the age of 2, I noticed a delay in Aiden’s speech
development. I mentioned it to his pediatrician and he was referred for an
assessment. They confirmed that he needed occupational therapy, physiotherapy,
and
speech therapy. We figured he was a boy; he was being lazy, no big deal. After a
year, his pediatrician suggested that we see a geneticist.
By this time, his brother, AJ was about 12 months
old;
Aiden was 3 years old. AJ came with us to the appointment because we didn’t have
a
babysitter.
As soon as we sat down, the geneticist started pointing out all the things that she noticed about Aiden; that the tips of his fingers were bent, the bridge of his nose was flat, and he was hairy. She then turned to my other son, the baby, AJ, and said that she could tell that he had the same symptoms.
She suspected
MPS II… It was very difficult to hear. I told myself that she was wrong but,
when we
got home, I saw pictures of other boys with MPS II, and they were my boys.
They love to play, they are very social. They have a
special bond, and I think it’s because everything they go through, they go
through
together.
Our 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.
I see everything that they have to
go through, day after day, and they do it all with a smile, a giggle, and a
laugh.
The story featured here may not be typical of all people who have Hunter syndrome; symptoms can manifest differently depending on the severity of the disease.
My husband and I felt like the luckiest people on
earth when we held our little boy for the first time. However, 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.
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.
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.
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.
