Into the unknown: life with an #undiagnosed child

Of course she’s not a child any longer. My disabled daughter B will celebrate her 21st birthday this year. At least, I expect she will. Because that’s the essence of having an undiagnosed child or adult in your care: nothing is certain.

Okay so nothing is certain in life, but it’s even less certain when your child is undiagnosed.

It all began at her first neurology visit when she was just a few months old.

‘She’s very unusual,’ we were told. And so it began. The inability to find a label that would fit.

In case you don’t know the back story of my disabled 20-year-old, she was born unexpectedly at 26 weeks and spent six months in hospital, with a whole range of difficulties, many of them very rare. Yet her medical issues had largely disappeared by the time she was two, helped by an emergency tonsillectomy. But other issues remained: her physical and intellectual development almost stopped at the same time. And B was given a working diagnosis of cerebral palsy and an unknown disorder, mainly to get services, but she does not resemble most people with cerebral palsy at all.

And with no proper diagnosis there’s no road map.

There’s no list of milestones she can be expected to achieve. No guidance on medical issues she may face. No life expectancy. No support groups specific to her difficulties, no information. No other families to talk to about what works and what doesn’t. No experiences that other families can share. Even with the billions of pages on the world wide web, sometimes barely a handful cover some of her issues.

Her differences are many and rare so that everything has to be adapted: her clothes have to altered, equipment custom made – if it is available at all. She knows how to walk, and adored her walker as a child, yet no adult walker can be found that meets her needs. She uses a special toiletting sling that is falling apart, but all the new replacements are made of slippery fabric, and her tone is so low that she just folds up and slides through them!

Her differences are also wonderful and inspirational

She is unusually sociable and vocal for a non-verbal young woman with profound disabilities. She loves life and takes pleasure in the smallest of joys and her delight is completely infectious . Her smile is so radiant that you can feel it even when you are looking the other way, and then of course you have to turn around and smile back.

Not knowing what the future holds is not all bad either. She does not have a life limiting disease, so I do not have to worry that each day could be her last. I do not have to fight to get her medical care and she is rarely sick or in hospital. It does mean that every day has to count. As her mum I try very hard to make sure she has the best life possible. However long it may be. After all, when you have a daughter as wonderful as mine, why wouldn’t you?

There could be several thousand undiagnosed children and adults in Ireland, with a huge variety and severity of disability, and many isolated families. But there is help and support out there, and a very warm welcome for families like mine from SWAN UK, the UK organisation for syndromes without a name, which celebrates Undiagnosed Children’s Day, today, April 28 2017.

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