One of the questions I found the most difficult to answer was back in August. Pudding was having a slight reaction during his infusion, so they needed to get a doctor to sign off some extra meds.
She checked him over, then said, ‘So he has MPS I?’
‘No. MPS II’
‘And how is that affecting him?’
I looked at her, utterly confused, and garbled something about a range of different things but mainly his development. Five minutes later I told the ERT nurse what she had asked, and she explained that all the doctors change over jobs in August, so it would be someone who had never come across MPS before. It brought home to me that now I will always be more of an expert on MPS than the vast majority of people I come across, including medical professionals.
Having completed three months of enzyme infusions and been through most of the initial assessments, now seems to be as good a time as ever to answer that question though, and take stock of the effects so far.
Physical appearance – he has the usual Hunter appearance – chubby cheeks, large forehead, broad nose – that tends to get more obvious as they grow older. His tummy is big due to the increased size of spleen and liver (this may reduce with the ERT).
Ears – those with Hunters are particularly prone to hearing problems. Pudding had persistent glue ear both sides. Since grommets were done in August, his hearing has definitely improved, and they will probably have to be repeated again in the future.
Skeletal issues – He is tall at the moment; without treatment growth would normally slow down around now and stop at just over 4 foot, but with ERT it will probably continue to give him a normal height. Movement at his hips and shoulders is reduced; this doesn’t give him many problems at the moment, but he is often stiff after a period of inactivity and it contributes to his characteristic running style! At rest, Pudding’s fingers tend to curl over slightly though they can still straighten at the moment. Whilst ERT stops further build up of GAGs in his joints it cannot reverse any damage already done, so all these problems are likely to worsen. Clawed hands are very common, along with carpal tunnel issues. X-rays didn’t show too many problems, but we are awaiting an MRI which would look in more detail at the formation of the vertebrae in the neck.
Teeth – widely spaced and odd shapes. Brushing is a challenge due to his inability to stay still!
Airways – he has always been a noisy breather, particularly at night. A sleep study showed quite a lot of dips in oxygen saturation, but this has improved since adenoids and tonsils were removed in August. His airways apparently didn’t look too bad, so hopefully diagnosis came before too much damage on this area. Smaller airways and shorter necks in Hunter Syndrome can make it challenging for anaesthetists during a general anaesthetic, so this will remain something that we worry about.
Heart – his heart muscle is slightly thickened and some valves affected by buildups of GAGs but so far the heart is still doing its job effectively.
Bowels – doing a lot better since the start of ERT!
Brain – this is the biggy. We know now that Pudding has the neurological form of MPS II (Hunter Syndrome). Essentially this means that without further treatment that can reach the brain he will continue to gain skills slowly for the next few years. His learning will then plateau, and both mental and physical abilities will decline as his brain loses control of various functions. This will affect the following:
Speech and language – while Pudding still tends to use single words and a lot of babble, phrases are beginning to surface. ‘Where’s the baby?’ was a recent sentence that he wowed me with. Vocabulary is improving and his understanding is so much better than a year ago when we started down this route to diagnosis. We’re using and trying to teach him Makaton, to help him improve his communication and leave something if he loses his speech later on.
Behaviour – discipline can be really difficult. Lately though there have been a few breakthroughs – the word ‘sorry’ can even be heard sometimes. In one of the leaflets I have it describes younger children with Hunters as ‘cheerful, overactive and strong’. Pretty accurate! Behaviour can get a lot more unpredictable and aggressive as the disease progresses.
Seizures – we haven’t had any yet, but they occur in about half of severely affected children so it is one more thing to look out for as the years go on.
I could write more, but that is venturing into the realms of the future rather than what we can see right now. Whilst we obviously worry about all that we are facing, there are still hopes at the moment. Hope that we can get on the clinical trial, hope that brain involvement can be slowed or halted and hope that gene therapy can eventually provide the answer. They are small hopes – it pays to stay realistic – but we have come so far already. I look at Pudding these days and know that things could be so much worse. Ten years ago, ERT was only in trial and it has made such a difference to many. Who knows what the next few years could bring?