Undiagnosed Children’s Day – It’s a mystery!

Today is Undiagnosed Children’s Day which has been organised by SWAN UK (Syndromes Without a Name), a part of the Genetic Alliance UK, to raise awareness of the fact that not all disabilities/syndromes have a name.  We don’t know what they are.

For Undiagnosed Children’s Day last year I wrote two posts about my Not So Little SWAN and Undiagnosed Children’s Awareness Day.  Last year the theme was “Undiagnosed but not invisible”.  This year? “It’s a mystery”.

It just so happens that yesterday my son had his last ever check up with his paediatric consultant.  We’ve only seen him once a year since 2002, and only 6-monthly before that, but as my son is leaving school this year he will no longer stay under the care of the paediatric team.  So, it was a more comprehensive chat and check up than we’ve had for the past few years.

I like our consultant.  He diagnosed my son’s headaches as being migraines back in 2008 and helped us to find a solution, ie medication for 18 months until they settled down to one every 6 weeks instead of one every week.  He also referred us for every test he could access when we moved to York in 2001 even though most of them had been done before.  Everything came back negative so we just carried on with life and got on with it.

This year, our consultant explained that he would be changing the letter he usually sends out to read “learning disability” rather than “difficulty” which it has stated for the past 13 years as Adult Services won’t touch him if it doesn’t say disability.  He also confirmed that the only diagnosis we have is microcephaly.  He also confirmed that although there have been advances in genetic testing since my son’s last tests he didn’t think that it would be advantageous to re-test now.  If my son ever gets to the stage where he is able to get married and have children then he will need to go through the tests again to see if there is anything which he could pass down to his children.  Personally, I don’t think that day will ever come but, he is developing all the time, you never know.

Finally, I’d like to leave you with SWAN UK’s promotional video because it looks like it was fun to make and celebrates everything that makes our children and their families wonderful.