The Final Stretch

I vividly remember the day we first started the journey of searching for a diagnosis. I was sat in the conservatory in our old house, huddled in the corner of the large, brown sofa. It was dark outside and I stared out into the garden as I explained to my cousin, over the phone, that the paediatrician had decided to do more tests to find out what was wrong with Hugh. I’d been to the children’s hospital earlier that day for a regular gastro appointment to discuss Hugh’s reflux and eczema. We were trialling different formula milks to no avail and he was on copious amounts of medication that he’d barely tolerate. Yet, this week the paediatrician seemed more concerned about Hugh’s development, particularly when he discovered that Hugh’s head was smaller than it should be. In no uncertain terms he told me that it was time to run some tests.

I’d been buying time and avoiding this for months. Despite being concerned that there was something ‘wrong’ with Hugh for months only to be assured that ‘all children develop at their own rate’ or that I was ‘seeing things that weren’t there’, I’d continued to make excuses whenever the paediatrician had broached it in the past: maybe Hugh was born too early - I was induced at 38 weeks, I surmised it could have been another 4 weeks until he was ready. Maybe the (almost) two weeks in neonatal delayed his development? Perhaps the reflux was holding him back- he wasn’t getting all the essential nutrients because he was vomiting so much. The paediatrician agreed that to some extent these could all be relevant, but he was clear- the head circumference not growing in line with this height and weight, coupled with his by now fairly obvious delays, meant it really was time to intervene. He could accept my excuses no longer. Away from the hospital I’d been raising my fears regularly, but now that someone finally was agreeing with me and not only that, wanted to find out why, I was terrified. I didn’t want to be right. I didn’t want anything to be ‘wrong’ with my baby. I remember explaining to my cousin that I was sorely tempted to refuse the testing- I didn’t want to know. I didn’t want him labelled. I knew, deep down, how illogical that was, but I was running scared. What if he had something they couldn’t fix? She calmly talked me down, assuring me a label wouldn’t change Hugh but might enable him to get the right support and the right treatment to give him the best possible future.

The long road of testing began when he was 6 months old.

I know now, that the small head (microcephaly) is a good indicator of a genetic condition. Back then, I was blissfully unaware. I’m not sure what I thought they were looking for mind you, I knew there were blood tests and scans, an x-ray of his skull to see if it had fused early and a brain MRI but other than worrying Hugh might need an operation on his skull, I assumed once testing had started that we’d soon be given answers: a neat little label, a treatment plan and we’d all live happily ever after.

It didn’t occur to me that they might not know what was ‘wrong’.

It’s been nearly seven and a half years since testing began. We knew fairly quickly that Hugh has a genetic condition of some sort. Numerous tests and research studies have failed to identify it. Yet.

Recently there’s been a scientific paper published outlining the specific abnormalities in Hugh’s DNA. It points to a diagnosis. Today we meet with the Consultant Geneticist to discuss those results. And potentially get a confirmed diagnosis.  We're on the home straight now, the final stretch of the race.

And how do I feel?

Excited, I think. I’m at a slight advantage, given that I’ve been chatting with the researchers in America, so I already know what the potential diagnosis is. It’s not too scary- there’s no hideous, scary things to look out for in the future. So as far as diagnoses go, it’s not a bad one.

I’m not sure the diagnosis will change anything. It’ll make form filling easier, but it’s so rare it’ll be meaningless to most people anyway.

There’s a support group I can join where there are families who’s children have the same condition so it’ll be interesting to meet children like Hugh and might give us a glimpse into what the future might look like for him.

But on a day to day basis it’s unlikely to change very much at all.

It’ll be a comfort to finally have that label though, I think.
After nearly 8 years of not knowing.
8 years of searching.
To finally, finally know why.