Undiagnosed Children’s Awareness Day

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In this time of amazing medical advances, it sometimes seems like there is nothing medical science can’t do. So, people are often surprised when I say that Lil Z doesn’t have a diagnosis – and may not get one. Surely its just a case of having a good look at her DNA?

Well, if there’s one thing that I’ve learned over the past two years, it’s that I’m not a geneticist and nor am I even remotely qualified to explain the complexities of genetic testing. But this is what I have learned:

  • No, it’s not that easy
  • Genetic tests are slow, expensive and take a long time
  • You can sequence a whole genetic code and still not find the cause of the problem
  • Even if a child gets a negative genetic test result, it’s not a 100% guarantee that you can rule that condition out – there is always a small chance that it just doesn’t appear as they expected on the test
  • Sometimes genetic tests don’t mean a lot anyway – being able to say your child has 2J double deletion Q76 won’t mean anything to most people
  • Lil Z’s doctors and therapists aren’t nearly as interested in her diagnosis as they are in HER

But there are definite benefits to a diagnosis. As I’ve discussed before in previous posts, it would give us a better idea of Lil Z’s prognosis and future. At the moment, we have no idea what that looks like. And all you have to do is spend a bit of time in a SWAN (Syndromes Without a Name) group to realise the terrifying fact that not all undiagnosed children make it to adulthood.

A diagnosis also gives you the support of other families who are going through the same thing. The SWAN community is extremely supportive and growing. The vibrant SWAN UK group has now inspired an Australian sister organisation, much to my joy. But all our children are unique – none of them have the same symptoms, so the fellowship is more about support in an undiagnosed world than sharing specific issues.

And finally, a diagnosis matters to the government. Anyone who has had any contact with the special needs world knows that EVERYTHING is expensive. And I don’t mean a bit pricey, I mean prohibitively expensive for anyone apart from perhaps Bill Gates (or whoever is topping the world’s wealthiest list these days). So, unless you can turn to your Uncle Bill for a loan, at some point you will need government funding, simply to provide your child with the basics such as a bed and wheelchair. And the government (all governments) love a diagnosis.

Here in Australia, they’ve even gone so far as to give you funding based on your diagnosis. Yes, if you’re lucky enough to have a child diagnosed with cerebral palsy, autism, Downs Syndrome, Fragile X Syndrome or a short list of other conditions, then you are eligible for Better Start funding. If your child is undiagnosed… well, that’s just too bad.

So take a moment today to think about undiagnosed children today. SWANs aren’t so abstract idea – they are real children like Lil Z who have been given a very unfair start in life, but are still a constant wonder in our lives. Have a look at some of the resources I’ve listed at the bottom of the page. Make yourself aware. And don’t assume that we all have a diagnosis.

SWAN resources:

SWAN UK and also their public Facebook page and new YouTube video and

SWAN USA

SWAN Australia

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