Pondering Certainty #Undiagnosed

Something a little different today. Three years ago my then 11 year old son asked me to stop writing my blog about his disability, so I stopped, and several years of posts are no longer visible. Now my blog is mainly about me trying to get healthier, physically and mentally, interspersed with random pondering on life, the universe and everything! But on Undiagnosed Children’s Awareness Day my son accepts that I can write about him to raise awareness without breaching his privacy. 

(Image by Swan UK)

My son has an undiagnosed genetic condition. A lot of people don’t realise this is possible. The normal experience is 

  1. Something is wrong
  2. Doctors investigate
  3. Something is diagnosed
  4. A treatment plan follows

But its not always like that. 6,000 children born in the UK every year will have a genetic condition which remains undiagnosed. 

Some children are undiagnosed because things stall at the investigation stage, tests show nothing despite there clearly being a problem. This may be because they have a genetic difference too small to be spotted by current tests. Some are eventually diagnosed, but only after many years of uncertainty and testing. Others, like my son, are undiagnosed because a genetic difference is identified, but it doesn’t link to any known condition. As DNA testing advances, and can spot smaller and smaller genetic differences, this group is likely to grow. The clinical side can’t keep pace with the genetic side.

My son has a genetic diagnosis, a string of letters and numbers that documents exactly which genes make up his extra chromosome, but no clinical diagnosis. No idea how it will progress, what he can expect as he grows up, or even whether it’s the whole extra chromosome, just one gene within it, or something completely different that causes his disability. He does have a list of conditions: global development delay, moderate learning disability, severe dyslexia, severe dyspraxia, autistic traits, sensory issues, speech and language issues etc. etc. But these are each just a part of the jigsaw puzzle. We’re missing many pieces and can’t find the lid with the complete picture on it. 

Things have come a long way since my son was little. There’s a charity, Swan UK, providing much needed support to families of undiagnosed children. They launched when my son was 8, before then I’d been struggling alone. With them we have a network of supportive families going though similar situations. My son loves meeting other undiagnosed children, and strongly identifies with being a Swan child, with having a Syndrome Without a Name. But many people still think you need a diagnosis to get support. 

(Image by Swan UK)

My son has grown into a confident cheerful young man, who talks openly about his genetic difference and the difficulties it causes him. He can explain what support can help him cope when things are difficult. He’s becoming a wonderful advocate for himself and other undiagnosed children, he thinks as many are non-verbal he should use his voice for them too. Today he’s persuaded his school to raise money to support Swan UK. Nothing is certain, we really have no clue what the future holds. That does worry me as he moves towards adulthood and I see services failing, but we are supported. 
Society seems to be craving certainty more and more. Everyone has to have a definite opinion on everything, it’s got to be certain, it’s got to be now, ideally in a short soundbite. Facts are less important than how convinced you are. Saying you would have to study something in detail and then make your mind up is seen as weakness. There’s no more discussion, no debate, no prospects it seems of people changing their views, just name calling and division. 

Perhaps its because I’ve had to come to terms with so much uncertainty at home that I find this especially challenging. 

I don’t believe things are that simple, that definite. I’m rarely certain of anything. I think the drive to certainty creates a harsher more divided society. Everyone has to be on one side or the other, for or against, in or out, right or wrong, and the opposite side is the enemy. What if the solution isn’t in or out, what if it’s up or down or diagonal? What if the world is not made up of the right and the wrong but of many possibilities, each with the potential to have good and bad effects? 

The Swan community is made up of families who encountered a possibility they may not have planned for. My son’s genetic difference is a random blip, a spontaneous mutation affecting every cell in his body. And then affecting every person he meets. It can be isolating, it can be frustrating and it can cause stress, but it has also brought us into a wonderful community, showed us how strong and resilient we are, and improved our lives. Just because it’s uncertain doesn’t mean its terrible. 

I think that’s another lesson for life. 

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Please visit Swan UK to find out more. You can donate to support their work by texting SWAN11 £3 (or any amount up to £10) to 70070. 

Swan UK want to reach as many families with undiagnosed children as possible. Please pass on this information to any family you know who have an undiagnosed child. 

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World Down Syndrome Day

21st March is World Down Syndrome day and I wanted to share this fantastic video from YouTube…

… although made by people with Down Syndrome and about Down Syndrome I believe its true for many other conditions/disabilities too. My son has an undiagnosed genetic condition and his needs are #notspecialneeds just human needs. He’s asked me not to post about his difficulties online and I’m going to respect his privacy, its enough to say the world would be easier for us if some people remembered he’s human first, additional needs second!