Tag Archives: Undiagnosed Children’s Day

From a Cygnet on Undiagnosed Children’s Day 2014

I am a lucky woman. I have a lovely family, at the centre of which are two amazing children. I have fantastic friends and a good job.

One of my children happens to have quadriplegic cerebral palsy and epilepsy. How does that make me lucky? Well, because he is a marvel. Because he survived meningitis and prematurity. Because he is honestly the happiest child I have ever seen.

And I know that I am lucky because we have a diagnosis. I have answers. When people with the subtlety of the proverbial bull ask me ‘what’s wrong’ with my child, I can tell them. Many cannot. Though their lives and ours are very similar (endless appointments, therapies, battles for services and emotional highs and lows) they live with a cloud of doubt that doesn’t darken my days. And I am grateful for that. I never take it for granted.

That’s not the whole of our story, though. There is some uncertainty. When Boo finally had his big diagnostic tests last June (MRI, lumbar puncture, urine – for metabolic disorders – and bloods – for genetic testing) we were 98 per cent sure that we would get the CP diagnosis I had been told to expect since before his due date. But Boo’s seizure type (infantile spasms) can have devastating metabolic and genetic origins.

We hoped one child couldn’t be that unlucky. We hoped that having been born (with no explanation) at 29 weeks, contracting meningitis at 3 days old, sustaining a massive brain injury, there couldn’t be anything else. Surely?

It took a while for the results to come back. And when they did, CP was confirmed and the most likely explanation for the seizures (and Boo has been seizure free for 15 months now) is the brain injury. But…

There’s always a but. Boo turns out to have additional genetic material on the long arm of chromosome 22. The clinical significance of this is unknown. The testing, we’re told, isn’t advanced enough yet to tell us how or why this might be important. And perhaps it isn’t. The sensitivity of the available testing now means that many of us would be tested and found to be abnormal to a greater or lesser degree. But it could be significant. It might help to explain other things. All it’s done is provoke more questions.

As his parents we were offered testing. If one of us was found to have the same abnormality, and since we are healthy, then we could say for sure it was clinically insignificant. But that would take months. And if neither of us does have the same X-Men chromosome, then we are back to square one. So we took our CP diagnosis and said thanks but no thanks to the testing. We won’t be having more children. If we were, things might be different. And one day we will have to tell Sissyboo and suggest she might like to be tested. But for now, we’ve drawn a line under it.

I can’t pretend to know what it’s like to have a child who doesn’t have and isn’t likely to get a diagnosis. Plenty of people do and explain this with eloquence, humour and integrity. Many of these people are bloggers and you can read posts by a number of them on this wonderful blog hop for Undiagnosed Children’s Day on the SWAN UK website. SWAN, for the uninitiated, is an amazing project run by Genetic Alliance UK. The acronym stands for Syndromes Without a Name and it provides vital support to families.

Boo is not a swan. I think of him more as a cygnet. The fact that he is (mostly, at least) diagnosed means that our case is different. But SWAN members and bloggers have played a big part in maintaining what’s left of my sanity after the past two years. SWAN bloggers

abstractlucasareyoukiddingneycomplicatedgorgeousnessitssmallsworldjustbringthechocolatelookingforblueskyoneoffordinarytheaandnatesmam  and many others never cease to amaze me with their wit, wisdom and compassion. They lead crazy lives but they are never too busy to reply to a frustrated or moany tweet, offer advice or tell you to open a bottle of red and a box of chocolates and not be too hard on yourself. I think of them as my friends even though I haven’t met one of them in person. Yet.

So from the cygnets in Booland on Undiagnosed Children’s Day (and to SWAN that helps us all) a big thank you.

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