‘I am writing with news that the genetic tests undertaken… for your child have identified a possible cause for the developmental difficulties…’
You’ve maybe noticed I’ve been quiet with the words of late. This is why. The moment the letter arrived with the hospital postmark… well, I knew what it was. I circled it warily, opened it, cried. Stopped blogging.
It’s so hard to explain the mix of emotions you feel when you receive the letter, read those words… Many of you will know we’ve been on the DDD study for two and a half years (not including the 6 months it sat on the shelf unopened. Sorry). That’s a long time. A long time to get used to the idea that maybe there isn’t an answer, that maybe those scary answers you thought it might horrifyingly be, well, it’s not them either. So he’s undiagnosed. That’s a badge we can live with. It seems to fit. I liked not being able to explain Alex sometimes, that he was just Alex. And now… well, here came that label. I wasn’t sure I wanted it.
They don’t tell you in the letter what it might be. You have to call. So I spent a day chasing my geneticist down, feeling like That Mum again, wanting – not wanting – our answers. They tell you over the phone, no waiting for a 3 week later appointment. Bam. Here it is.
So Alex has, though it hasn’t been utterly confirmed, but they’re pretty sure: Noonan’s Sydrome.
I had a small teenage moment when she told me this: it’s an awkward to say syndrome, and not nearly enough ‘z’s or science-y letters in it. Not very flash. I know. Inappropriate.
Wiki has a good page on it here: https://en.wikipedia.org/wiki/Noonan_syndrome but, essentially, the key take aways for me were:
– it’s not progressive
– it’s not hereditary. It can be but, for us, it was ‘de novo’: a mutation.
My little boy is a mutation.
There the words of science and parenting clash.
But it means the chances of Emma carrying it are incredibly slim. I cried again when I heard this. Hadn’t realised how much it weighed on me. Emma. Having children. Just regular, normal ones. Like most people want. Like most people have without thinking.
It affects between 1 in a 1000 to 1 in 2500 children so is, compared to some diagnoses SWAN children have had, pretty common. I think what threw a swerve ball to our geneticist – why she didn’t test for it, why we could have avoided all this time in the middle – was his height. Around 80% of NS children are short and Alex is anything but. But, if you look at the physical features that we think of as ‘just Alex, part of him’, (heavy lidded eyes, slightly dropped ears…) he matches. And the blip in his DNA is consistent.
They can’t tell us much more right now, so I can’t tell you. It sort of explains why he is how he is… but not where he’s going next. There is a huge spectrum of Noonans and Alex, to us anyway, is at the extreme end because of his extreme developmental delay. Most people with Noonan’s have only mild learning disabilities. I think being diagnosed via DNA first is quite new, I suspect up until now the visual clues have come first. So whilst Alex is probably just a new variant there is a thought that something else not Noonan’s related may be going on too, so more tests are imminent. Just to be sure.
I dread going back into the hospital system.
I’ve enjoyed just having our life.
Puts brave face on.
And Alex? Just carries on being Alex. When the letter came through I insisted I was giving him more cuddles – more than before – though everyone said this wasn’t possible as this boy was hugged All the Time. It was as if I was reassuring myself. About what I don’t know. Maybe that it would be alright. Maybe that having a diagnosis would be ok. When we told Emma she burst into tears: ‘So Alex isn’t a Swan anymore?’ She too felt the drawing in of parameters, wondered if this meant he wouldn’t talk now. We reassured her that though everything had changed, nothing had really changed.
And it’s taken a while for me to write it down. To share our news quite so publicly. It took a while for me to get comfortable sharing it with people at all. To say, when people asked me about Alex, ‘Actually, we’ve just had a diagnosis’. I haven’t hidden it, just not shouted it, and I hope that’s ok, that you see where my head is at. Feel free to ask questions, even though I probably can’t answer them…!
And we stay in Swan, they don’t kick us out. Which is just amazing as without them, I’d have been bereft. They supported me without a diagnosis and they’ve supported me as I came to terms with something new.
Everything… and nothing. The world shifted a little. And then it didn’t. He is still our little boy. Still loved. Still challenging. But ours.