News & Events

Questions and answers

Last Reviewed 02/09/2016

By a SWAN UK MEMBER

I spent six years of my life, my daughter's life, searching and wanting a diagnosis and now that I have some answers I realise I have never wanted them and wish I could send them back.

I want to undo what we've been told, to change what little it is I do know but I can't; there is no magic receipt and the tin of worms we have been given from my daughter's supermarket shelf of DNA instructions is non- returnable.

You see, as a parent to a severely disabled child with no diagnosis what you want are answers, something that can help you look forwards again, to get support, to feel you have some concept of the path their life will take even though you won't know for sure what you may encounter – you have a general direction.

As parents what you are really searching for is good news, not something that you weren't prepared for, that makes you feel worse, that still gives you no answers, because it's so rare your child will be telling the experts the prognosis for mutations to this gene. We used to joke that she must have something pretty amazing because no one can find it, a one off, and 'no news is good news' right ... wrong!

My daughter is six years old, has complex health needs and is severely disabled but she is the most beautiful looking child you ever did see ... ok yes I am biased but she is pretty gorgeous.

This morning as I take her to school, her 1:1 meets me at the car as usual, takes her hand in hand and they turn away from me as they walk into her special school together – as they always do. But today, as she turns the corner to go out of sight, she turns, looks back at me and waves goodbye. There was no prompting, it's not something she has been told to do before. For the first time, she just remembered I was there, and waved goodbye – her beautiful little face smiling her beaming smile as always.

At that moment, my heart melted (not for the first time) at something so amazing, that is such a huge, huge achievement and something so normal that most mummys take for granted every day on the school run, but my little girl (that is still very much like a baby in most of her development) just did all by herself! What a total superstar!

At that moment I felt so so happy I welled up, but straight away the happiness is taken over by pain, pain that physically feels like a knife put in my heart, pain that she has been dealt such an unfair hand in life, pain that she has to fight so bloody hard for achieving every tiny little thing, skills that are not even thought about; feeling pain, learning to tolerate being placed on her tummy without being so scared she hyperventilates, coping with everyday noise and visually busy situations, learning to use a finger in isolation, learning to nod, to fart, to not eat books, to reswallow her reflux, to crawl, to tolerate leaning sideways and forwards, to not throw herself backwards into walls, to stand, to balance with her little twisted feet, to take those first steps after four years of daily Physio, to walk, to stop walking before hitting something, to keep glasses on, to utter just one babble like sound and so on and so on – yet at the end of it all, after all her hard work she will likely have her adult life taken from her before she even starts it.

You see a few months ago I was told they finally found something, I was told that my daughter has a mutation in a gene that is so incredibly rare and had so far only been found in boys ... and they have all died by the age of five. The mutation is in the X chromosome of which boys only have one.

My daughter is only still here because being a girl she has another copy of that same gene on her other X chromosome that is therefore compensating for the mutated gene. How much and for how long is not known and therefore being the oldest girl (she is one of just three girls worldwide – yes it's that crazy rare) with this mutation, I feel like we are trying to live our lives ignoring some great big clock ticking invisibly around our heads. How do you begin to take that in, being told something so horrible then being left to deal with that, to absorb it, to react to it, to 'accept' it ...

I have been coping ok, I'm still functioning which is something, I'm still carrying on for her as if nothing has changed, pouring all the love into her I possibly can, trying my hardest to give the various therapeutic input daily, advised by the so many people involved in her care that have become our surrogate family because this is all I can do to help her. I have made her this way, she didn't ask for this and I have to try my hardest to correct the effects of this horrid mutation she has been given.

The reaction from our immediate family had made it so much worse for us. I guess grief makes you selfish and not think straight and I can't blame them, for they've had no support for how to deal with this news just like us. The bomb is just dropped and left to ripple through you, no help with what to do with this information, just the waves of emotion echoing through you with an emptiness I've never felt before. The two friends I have dared to whisper this to ... their reactions are the hardest to cope with. It doesn't matter what anyone says I can't see their comments in the way they are intending them – to be kind, supportive and there for me. Everything is making me angry, it makes no difference what happens right now, I'm internalising as then I can't say the wrong thing, upset anyone or make them feel they shouldn't bother with me. That's it, we tell no one else, we keep this horrible secret to ourselves, why share it, upset more people? Have more people not know what to say, make it even more real? Perhaps the less times I speak it, it makes it less real to me.

Today I have to take her for an afternoon of heart tests. I will be alone, just me and her and that's the way it usually is. I hope the tests may put my mind at rest for her immediate future at least. Surely something would have been picked up before? But you just don't know, and as things seem to be so sudden from what's happened with the boys, it's best to know isn't it? I am so scared.

My eldest daughter will never know what's to come for her little sister as no one can tell us whether it's a year or 10 but we have started to make memories, to tolerate situations that I normally wouldn't push my little lady to do just so I can make 'memories' for us all. I hate that I am conscious these are 'memories' being made, they have that taint on them just for their very purpose; I want them to just be memories because they just happened, not because we are deliberately doing them for that horrible reason that even though I can pretend it's not for, it still is.

How did it get to this? This learning curve of sadness, the goal-post that just grew and grew; from my beautiful new baby having a few little problems where my concerns were explained away to realising your baby is a bit unwell, to realising your baby may have some minor disabilities from the letterhead stating 'children's disabilities team' for a first appointment, to the amount of professionals involved being added to by the week for every area of your child, to being told your child is severely disabled but they cannot find the cause, to realising that as the years go past with no answers clearly your child probably has some kind of rare syndrome, to being told you will likely never know, to then finally, finally after all this time of the unknown, receiving a diagnosis ... that is so rare they can't tell you anything. #cheated. Where are our answers that help us know what to expect, that tell me my daughter will talk and tell me she loves me, learn to play, gain some independence, stay healthy, that she'll be ok, that we will be ok.

I wish I had been told nothing, which in a way we have, but we have been told something and that something is certainly not better than nothing when all it gives you is fear. It makes the happy moments equally as sad, because you know how many you have are already limited.

It's official now – the questions I need to ask, no one can answer other than my special little lady as she goes through life.

She will remain, a beautiful mystery even when she's not. She's stunning, complex and unique but she's mine and I'm just not ready for what's to come and I don't think I ever will be.

If you would like to share your story please email: info@undiagnosed.org.uk

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