I think what ‘undiagnosed’ means to me is… uncertainty. Our whole life is suddenly uncertain.
When your children are born you only then realise how fragile you are and how vulnerable you have suddenly become… and yet within that you can still plot a broad path for them in your mind … first steps, first words, first days of school… right up until the day they leave home and you hope hope hope that they’ll be just fine on their own.
With disability, an undiagnosed disability, that is ripped from you. And it’s not ripped from you overnight but slowly… gradually… after you’ve all realised something is amiss, that that path will not be your path, that your child will plough their own… after you’ve held them still (held them down… walked away when you couldn’t bear it anymore) and put them through blood tests, lumber punctures, eye tests… when they have protested so much that you Will Not do Anymore… when genetics have thrown their hands up and said ‘We don’t know… We may never know…’ When that has sunk in… you have reached your no mans land.
You don’t fit anywhere.
All the support groups you have found are for individual symptoms but with no over-arching diagnosis, where can you go? It is a very lonely, very isolating place to be. You question yourself. Is it really as bad as everyone seems to think it could be? With no diagnosis perhaps my child will just catch up in time? Does everyone think I’m making this up?
And this is why SWAN UK is so important. Everyone needs a home, a tribe, and we are a tribe. A tribe of misfits if you like. Those shapes that just won’t be sorted.
No child is alike but our issues, challenges, as parents are the same. We all understand the vagaries of no diagnosis. How this can affect coordination and provision of care, how it’s hard to plan for any further children without one as noone can give you odds and how life is… uncertain.
Alex, having been given a tentative diagnosis of Noonan’s Syndrome has pretty much had that withdrawn. Whilst his DNA glitch matches that of Noonan’s nothing else seems to. He is tall for his age… he is more severely physically and cognitively affected than other children with Noonan’s and, critically (though wonderfully) has no heart defects, which is a sure sign. Our consultant took one look at him and said, to all intents and purposes, that he would never have diagnosed Noonan’s. And then… DDD came back to genetics and said – and again I paraphrase – Do you think it’s Noonan’s? because we’ve found something else that might be useful, though we’re not sure what it is yet.
And back they disappeared down their scientific rabbit hole.
This was back in December. And so there we were, riding the crest of the scientific wave… dropped back into uncertainty again. Recalibrating life… again.
I have no religious leanings but, truly, every day with Alex is a blessing. Because he is a beautiful, funny, cheeky little boy who I love with all the ferocity of a newborn. Because we don’t know what’s coming. We may never know what’s coming. And that weighs on you.
We don’t know how he will grow and develop. We have no prognosis. I panic at every alteration in his behaviour.
My heart fell when he stopped being able to bite his toast recently, I feared he was somehow regressing… a day later, his tooth dropped out. No other parent – apart from one in my situation – would have felt that. It’s not normal, I know that, but that is our reality. And ours is just one story.
SWAN UK is a bringing together of parents. Parents who understand one another. Who get it. Who support and advise one another in a way that is unique to our situation.
That’s why we want to find as many other parents with undiagnosed children as possible. 6000 children are born every year with what will turn out to be an undiagnosed syndrome. That’s a lot of families with unanswered questions. Together we re-build each other’s confidence, tell each other when we are – frankly – being daft… and sympathise in situations we fully recognise, because we have experienced them too.
It is therapy.
April 29th is Undiagnosed Children’s Day. It’s a day to highlight our beautiful children and our unique situations.
But – and here’s my ask – they need money to keep this amazing charity going. Here’s the links:
Text SWAN11 (or whatever number you can afford) to 70070 or donate here https://www.justgiving.com/swanuk/
… every little does genuinely help.
This post joins a host of fabulous Swan parents who blog about their experiences. All unique. It was originally posted at As Alex Grows Up.