When a chance meeting leads to questions about Pudding I often say he has a genetic disorder that causes his development delay. People can be genuinely interested and ask for more information, wanting to know the name of the condition. My heart sinks a little – they won’t have heard of it, just like I hadn’t a year ago – but say the word anyway. Mucopolysaccharidosis. They look a little taken aback and ask what that means. Usually I give the official answer: it’s a progressive condition; due to a mistake on his DNA he is missing a vital enzyme; waste products build up all over his body causing a range of problems. But that explanation leaves so many blanks. It fails to explain what MPS II (Hunter Syndrome) really means to us.
It means pinning him down for needles and blood pressures and medicines every week. A four-hour infusion every week, for the rest of his life.
It means feeling guilty. Guilt that I don’t do enough to stimulate him, guilt that I sometimes snap at him when it’s not his fault, guilt that I might have caused this whole thing by having him later in life.
It means living with the possibility that our child will die before us.
It means being grateful for every long-awaited milestone or achievement.
It means becoming a walking calendar; balancing preschool and social outings with weekly ERT, trips to Manchester, appointments with occupational therapy, speech and language, physio, ENT, portage…the list goes on.
It means mourning the expectations I once had for him of girlfriends, university, a good job and maybe children of his own.
It means never leaving anything on any surface unless we’re happy for it to be thrown or eaten.
It means pacing hospital corridors waiting for him to come round after another operation and dealing with his distress when he doesn’t understand why he is feeling so rotten.
It means wondering each month whether his body will continue to tolerate the new drug that is our current best hope.
It means feeling I have to be strong, but sometimes failing.
It means being hit and kicked and pushed over by a boy whose size and strength is not matched by his understanding of how much he can hurt.
It means having certain dates etched on my mind forever – the date we heard about MPS for the first time, the date he got the final diagnosis….
It means our world will never be the same again.
It means he has charmed over 50 health or education professionals in the last year (the number has gone up since I last wrote about it in September)
It means tears. So many tears.
It means giving in to the TV as babysitter far more often than I would like as sometimes nothing else will calm him down.
It means learning to live in the moment and enjoy simple pleasures.
It means watching him like a hawk when we’re out anywhere in case he hurts another child or simply runs off.
It means grinning from ear to ear when I hear him chuckling at the TV, or a game of chase with his brother or when splashing in the bath. His laughter is so joyous and free.
It means holding faith in the science of the future that could save lives. And being grateful beyond measure that this is a possibility for us when for many others it will have come too late.
It means knowing the strength of love and support that we have from family and others.
It means accepting a new normal over and over again.
It means never knowing quite how to respond when his brother talks about what Pudding will be like when he’s grown-up.
But of course, I don’t usually give those answers to the person asking. Because if I bared my heart in the playground, or the cafe, or wherever we are, I would probably never stop talking about it or I’d start crying. And I’m sure they don’t really want a soggy Hunters Mum on their hands. And after all, when it comes down to it, MPS is everything and nothing. Pudding is still our little round lump of gorgeousness and nothing – certainly not this diagnosis – will ever change that.
***MPS Awareness Day – May 15th – Wear It Blue (or purple). Share on social media***