Undiagnosed Children’s Day – The Call We’d Been Waiting For

For most people a call from an unidentified number is usually one to be ignored.

For me it’s usually from a healthcare professional – it could be any number of things.

To arrange equipment pick-up or to schedule therapy appointments. To talk about test results or medications or to discuss respite and direct payments.

With therapists, consultants, nurses and social workers involved in meeting my son’s needs these calls are fairly common.

So when my mobile rang in October 2015 and the screen flashed ‘unidentified number’ I answered it without thinking.

‘Is that Daniel’s mum? It’s the geneticist.’

I got shivers straight away.

His next sentence made me cry.

‘We have discovered a gene mutation that we think might account for Daniel’s disability.’

To say we’d waited almost 7 years for this call is a bit of an exaggeration.

In reality we didn’t even know Daniel had an undiagnosed genetic condition until he was about 2.

He didn’t join Deciphering Developmental Delays, the genetic testing programme here in the UK likely to provide us with a diagnosis until he was 4.

But for a long time our hopes were pinned on DDD finally providing us with some answers.

So that phone call felt fairly momentous.

I was shaking phoning my husband to share the news. He cried too.

Actually after the initial shock, the initial tears we realised that this BIG news was really NO news.

It’s the word ‘think’ that caused the problem.

‘We have discovered a gene mutation that we THINK might account for Daniel’s disability.’

Not ‘know’, not, ‘we’re certain’, not, ‘we’re 100% sure’ – just we THINK.

That means that more testing is needed which means more waiting. Another 18 months and counting of waiting.

This left us with the decision of do we or don’t we share this, ‘no news’, with friends and family.

It felt easier to say nothing, but then it felt unfair not to share with those that have been part of Daniel’s undiagnosed journey.

Unreturned calls and emails to the genetics team tell us that there are still no answers.

So when we’re asked the question ,‘What is your child’s diagnosis?’

Our answer is still, ‘Undiagnosed.’

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