Henry’s Story

The early years

Henry has always been a larger than average child.  The Health Visitor (HV) used to tell me that, at only a few weeks old, I was overfeeding him.  I changed to a different weigh-in clinic, and all was okay for a while before the HVs there started to say the same.  So, I took Henry to the GP.  The GP looked him over and found no concerns, but because I’d had so much hassle with the HVs, she decided to refer him to the community paediatrics team.  At that appointment they suggested he might have a condition called Soto’s Syndrome.  They concluded this mostly due to the size of his head and him being a little behind in his development. Henry had some blood tests and was referred to a genetics specialist at Great Ormond Street Hospital (GOSH).  After they confirmed that Soto’s was not the problem, they looked at a few other things, and these also came back clear.  They decided to monitor him.

At his two-year review, his head size was raised again because there had been quite a noticeable increase in the year since he was seen by the genetics specialist at GOSH.  Henry was referred to the hospital Paediatrician who first saw him in early March 2021.  At this appointment he said he couldn’t see any issues with Henry except for the head size and some developmental delays. He requested blood and wee samples and got him booked in for an urgent MRI on his head. The specialist had considered MPS – however when I showed him a picture of Michael (hubby), he felt it was unlikely because there are certain ‘looks’ in a child with MPS and Henry is the spitting image of his Daddy.  I later found out from the genetics specialist that Henry looking so much like his Daddy had been a red herring in his case.

The diagnosis

Between seeing the paediatrician and the scheduled MRI, Henry became unwell.  He was vomiting loads and couldn’t keep any food or drink down.  Henry had never been a sickly baby, so we decided to take him to our local A&E (Queens at Romford) just to make sure this wasn’t anything more serious than a sickness bug.

Henry was kept in because of his head size and the vomiting.  On the 2nd night he become very agitated, so the Doctor requested an urgent CT scan and X-ray on his belly.  The next day the Doctor advised that they had found ‘collections’ on his brain and needed to look at them closer.  They arranged for an urgent MRI.  What I didn’t know at this point was that these collections were bleeds on the brain.  I also discovered that I was being closely watched by everyone in the ward, down to the lady delivering the food and cleaning the room.  This was because their procedure is to assume that someone might be causing harm to a child who presents with bleeds on the brain.

Thankfully GOSH were asked to review the MRI and CT scans.  This was the first time a doctor definitely mentioned the possibility of Mucopolysaccharidosis (MPS).  Because the paediatrician we’d seen only the week before had already sent off the blood and pee samples, we were going to be discharged.  The tests for MPS take about six weeks to come back. GOSH asked for the local hospital to take full body X-rays and check his eyes before discharge.

When the consultant reviewed him, he found that Henry had swelling of the optic nerves in both eyes.  This is an indicator of high pressure in the brain and explains the sickness he had been experiencing.  The GOSH neuro team then decided to get him transferred and reviewed by them. We were transferred on a Friday evening.  Henry seemed well when the on-call neuro consultant first reviewed him, but the General paediatrician who also saw him didn’t want to send him home whilst he was still being sick.  So, we spent the weekend in the Koala ward at GOSH.

At the start of the new week, Henry was reviewed again by neuro and by the eye consultants at GOSH.  They decided to place an Intercranial bolt into his head to measure the pressure for 48 hours.  In the first few hours after being installed, the machine was constantly alarming due to the levels of pressure being so high.  Once his neuro consultant reviewed the report, he confirmed that Henry had very high and dangerous pressure in his head, and that he needed to have a shunt inserted to bring this pressure down.  This was done a couple of days later.  Once the team were confident that the pressure was under control, he was allowed home a couple of days later.

Two and a half weeks after being discharged, Henry had another MRI to check the shunt position and to check pressure levels. The pressure had come down quite quickly, however Henry being a complex case, it was decided to increase the pressure slightly.  The bleeds that had previously been seen were being caused by this high pressure and these had increased over that period.  It was on the day of the MRI that we found out the diagnosis of MPS2 and our hearts were broken for Henry.

Life with MPS

If you know Henry, or have ever met him, you will know he is the most affectionate, loving, and amazing child. He has a hug for everyone he meets.  He doesn’t know any different to what he knows about his life so far.  Henry was born with the potential to do anything. MPS might be slowly taking that away but he’s here and he’s living his life to the max!

My only wish for him is that people don’t look at him differently because he looks different to a ‘normal’ child (whatever normal even is).  In recent months I’ve heard a young girl tell her mum, ‘that boy looks funny’, and on a day out to the farm, the lady running the tractor ride suggested Henry looked disabled.  Henry is a big boy and certainly doesn’t look like a three-year-old.  For this reason, we still use a buggy for him (mostly because he’s a stubborn boy who knows what he wants to do and will not follow what he needs to do).  People often stare which makes me feel very uncomfortable. There really needs to be more kindness and understanding in the world.  No one should ever write someone off just because they look different.

There are two reasons for me, as Henry’s Mum, to raise awareness about his condition; firstly is to make sure he gets the best treatment possible.  Hopefully one day soon he will get onto a trial for a better ERT drug, or even better, a cure.  Secondly, I am Henry’s voice.  MPS2 has affected his speech development, but that doesn’t mean he doesn’t try – and he tries so hard to communicate with everyone he meets.

The more people who become aware of MPS, the more educated they will be to the condition.  Not all disabilities are clearly visible, and more people need to start understanding this, and teach their children to be kind and not to treat others differently just because they don’t look like a normal child.  I remember reading a saying that children shouldn’t be compared to each other, because like popcorn kernels, they all pop in their own time!  Henry will pop when he’s ready!  After a recent panic attack Michael said something to me which has stuck with me.  Neither of us believe in God but he said ‘God gives his toughest battles to his strongest soldiers’ and thinking about it I do believe we are both tough and are coping well with everything that we are going through.

We must stay strong despite what anyone else says or thinks about us!  But we have amazingly supportive family and friends, and they help us keep on fighting for our MPS Warrior.

Henry’s Mum (May 2022)