Backstory

The path to diagnosis is never straightforward with a rare condition it seems. I’ve been in contact with three other families (not all Hunters) who had their child’s diagnosis delayed by other concurrent conditions or, in one case, dismissed as mother’s hysteria.

We were lucky in a way that Pudding was picked up when he was, though I do wish it had been earlier. Our excellent health visitor (who would have taken my concerns seriously) had retired when he was a year old, so I had never built up that relationship with another health professional.

As a second child Pudding never got the same anxious maternal scrutiny as Twiglet, but I did gradually begin to worry that he wasn’t achieving quite as well as he should be, particularly in language and understanding. I used to joke that he was unlike his brother in every possible way apart from their gender. Whilst Twiglet was slim, quick, handsome and precocious, Pudding lagged behind in all areas and kept his ‘baby face’ long after his peers began to look more like little boys. I did try mentioning my concerns – at a Speech and Language drop-in, at his 2 year check, to the GP – but didn’t feel able to push the issue, worrying that I was just being over-anxious.

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At our second visit to the SLT drop-in, this time prepared with his results from the excellent Talking Point progress checker, we were referred for a proper assessment. Finally, at 2 years 9 months, we were taken seriously. Due to his large head and general delay – Pudding couldn’t concentrate on the activities or balance well enough to climb onto the chair by himself – we were referred on to a lovely pediatrician at our local hospital. He was not a development specialist but immediately honed in on Pudding’s looks, which I now know to be typical of MPS, and described them as ‘coarse features’ warranting further investigations. Much as I disliked my baby being described in those terms, it was a relief to hear that we may get some answers. (My feelings at this point are described in A Simple Question)

On our second visit he showed us some pictures of other MPS children and I first heard that dreadful word ‘mucopolysaccharidosis’. Of course when I got home, I did what most people do. I googled it. And read those words –  ‘progressive and life-limiting’. At the time, it was still only a possibility, but looking at the pictures and reading about some of the symptoms, I knew it was likely. I had wanted a diagnosis, but never something like this….