Caring for a Child with Hunter Syndrome

Mucopolysaccharidosis (MPS) type II, otherwise known as Hunter Syndrome, is a rare condition that usually only affects males. According to the MPS Society, from 1992 to 2002, only 52 babies were born with the condition in the UK. It’s varied in its effects, which includes developmental delay and progressive physical problems.

Pictured above: Sally and her son D

Pictured above: Sally and her son D

Sally, 45, cares for her four-year-old son, D*, who has Hunter Syndrome. His symptoms mean that he requires regular treatment to minimise the effects of the disease, which is challenging for their family.

Sally regularly posts on her blog, which documents their journey to diagnosis and learning to live with MPS II.

What is Hunter Syndrome?

Hunter Syndrome is a type of MPS that is incurable but can be managed through enzyme replacement therapy (ERT). Although MPS can be passed on from parents, D’s condition is due to a mistake in his DNA.

“The different types of MPS are due to a spelling mistake in the DNA, or a gene that is completely missing. As a result, the body doesn’t produce the enzyme that normally gets rid of waste sugar molecules when they’ve been used.”

Hunter Syndrome Symptoms

D was diagnosed with the condition at three years old, as his language was very limited and he was behind his peers in other areas. Before his diagnosis, the waste sugar products had been building up in every cell of his body.

“His liver and spleen are enlarged, his airways are affected, and one of the valves in his heart is not working as well as it should. His joints are affected too – his hips and shoulders have reduced movement, and his fingers have started to curl in.”

Managing the Condition

Unlike some types of MPS, ERT treatment is available for those with Hunter Syndrome. It reduces the effects of the disease to improve development, which is usually delayed.

“D has a four-hour infusion every week that replaces the enzyme with a synthetic version. This stops further build-up of the waste products and allows his body to develop more normally. Without it, his height would only reach about 4ft and his organs would continue to deteriorate.

“Unfortunately this ERT doesn’t cross the blood-brain barrier that is designed to protect the brain from infections. He is currently on a clinical trial to put a version of the enzyme into his brain.”

D receives specialist care in a children’s hospital unit that coordinates all of his appointments including cardiac, ERT and so on. Sally has found the support that D receives to be excellent.

“Our specialist centre at Manchester Children’s Hospital is a two-hour drive away. For the first 18 weeks after diagnosis, we had to travel there for the weekly treatment. Fortunately, we can now have the treatment at home with a nurse who comes to us. This makes a huge difference to us as a family.

“Rather than a day a week in the hospital, D still has to have a day off school but can watch his favourite films or play football outside, and I can get on with other jobs.”

The Effect on the Family

Sally says that D’s condition has affected the family emotionally since he was diagnosed. After a rocky few months, they have learnt more about the condition and adjusted to their new life.

“The emotional toll on us at first was enormous. Going from a vague worry about your child’s development to having to face the fact that they may die in their teenage years rocks your world completely.

“I could barely function during the first months after diagnosis. I cried every day and worried about everything, including the impact it would all have on my eldest son, who is now six. A year and a half on, though, we’ve become used to the ‘new normal’ and deal with the routine of medical appointments, as we have to.”

Day-to-Day Life

D started at a local mainstream school in September 2016. However, Sally faces ongoing challenges due to her son’s condition, which can sometimes make daily life difficult.

“D is still slowly progressing and has learnt about 50 words or more now. At school, he is learning new routines and loves being around all the other children. He gets frustrated at times – he doesn’t understand that hitting and throwing things is wrong, so dealing with his behaviour is difficult.

“It can be hard watching other children his age chatting away, learning to read, and achieving all the things you’d expect. But we just have to learn to celebrate different achievements.

“With hard work and support, D can now do some two-piece jigsaws and draw a straight line. It might not sound like much, but little steps like that are huge for him.”

Awareness of the Condition

Sally had never heard of MPS before D was first diagnosed, and found that there was little information available on the condition.

“Although I have some clinical knowledge from my career as a chiropractor, I had never heard of MPS when D’s paediatrician first mentioned it.

“The first thing I did when I got home was look on the internet and saw the words ‘progressive’ and ‘life-limiting’. The difficulty with a rare disease is that the information on it is often limited. Other than our specialists, I probably know more about MPS now than any other health professional we meet.”

Sally supports The MPS Society, as they provide help to families who are living with MPS and related conditions.

“The MPS Society provides an advocacy service to help families. They give information on access to education and benefits. They also fund research and arrange conferences and family days.

“Having a child with a rare disease is so isolating. Even with the best intentions in the world, friends and family don’t understand, so having the chance to meet other families in the same boat means so much.”

Medical ID Jewellery

Sally’s father wears a medical ID band for his condition, so she was already aware of how useful they can be in the event of an emergency. Fortunately, D has never had a medical emergency due to his condition.

“When I realised that it would be useful to get a medical ID band for D, I searched online and found The ID Band Company. If there was ever a situation where he was in a medical emergency without me there, I wanted to make sure that the emergency services had access to his vital information.

Sally purchased the Kids Dolphin Engraveable Child ID Bracelet for D to wear, to display his important information in case an emergency occurred. It features an engraveable ID tag on a soft rubber strap with a dolphin design.

Pictured above: Sally and D with his medical ID

Pictured above: Sally and D with his medical ID

“I had lots of information I wanted to engrave, so I chose a bracelet with lots of space on it. The buckle means that D can’t remove it himself and I loved that there was a choice of designs, so it looked child-friendly and not too medical.

“The bracelet mentions MPS and the fact that his airways are difficult under general anaesthetic. It also includes my contact details and that of his specialists. One of the main reasons why I bought the ID band was to mention that the portacath on his side must not be touched.

“The portacath is the access point for his trial medication, so if anyone tried to use it for giving or taking blood, the possibility of infection getting to the brain could be lethal.”

Peace of Mind

dolphinD wears the bracelet on a regular basis, and he is positive about wearing it. The medical ID has given Sally peace of mind, as she often fears that D will run off in public.

“We try to remember to put it on him whenever we leave the house – it hangs on a hook on the door so, in theory, we can’t walk out without it! He doesn’t like being dressed or undressed but usually stands very patiently when we’re putting it on.

“I always keep a close eye on him when we’re out and about, but he’s quick when he wants to be and has no sense of danger. I worry that sometimes it would only take a moment of distraction and he’d be off. Knowing that he has the bracelet on takes away some of that worry.”

*D’s real name has been omitted for privacy reasons

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