Genes have been on my mind this week. A week ago I got a message asking me to phone a doctor about Cally’s blood tests. At first I panicked then remembered it was a genetic test he had months ago. His dad and I got the results at the very shiny and new Genetics Centre in the Southern General. It is a waiting room which although new is already filled with an atmosphere of expectations of good and not so good news which hangs heavy. There is a folder full of conditions you have never heard of and you wonder how others have coped. We have been here before of course when oue eldest son was diagnosed with a rare genetic disorder called Townes Brocks Syndrome which we later found out his dad has. Cally had been tested at birth for this and we never thought we would darken the door of a genetics lab before.

We were forearmed a brief conversation with the doctor last week had informed us he had a “slight amount of genetic material on chromosome 1”. So of course reader I googled it. They tell you not too but how can anyone not? When Lucas was born with a number of problems we were told it was just one of these things, but when I typed in his clinical features number 10 on the list was Townes Brocks Syndrome. None of the doctors treating him at Yorkhill had heard of it then. So of course I had to again. As usual a few scary and not so scary things came up. A leaflet from Unique the online rare chromosome disorder group even had a leaflet. When we sat down I was relieved to see the same leaflet sitting on the doctor’s desk. I was relieved.

Cally has the grand total of twenty five extra molecules on the long arm of chromosome 1. If you were looking for a SatNav to travel to it, the address would be 1q21.1. This mistake has been linked to learning disability and autism along with other things like heart disease and epilepsy. Our wee boy’s knitting pattern had gone slightly wrong. He was like his brother extra special-there are only another fifty or so cases of this microduplication reported in the world though like many other genetic disorders is probably unreported. The doctors were interested in our own health apparently 1q21.1 disorders can also cause mental health disabilities. We agreed to give blood to see if either of us has the faulty gene the results will take approximately eight weeks. He is still the same wee boy though there might be some explanation of the difficulties he has. It won’t be responsible for his lovely wee singing voice or his love of Rainbow Dash the My Little Pony. Yes he admits he is a Brony(that’s a boy who likes my little ponies), but he is still our gorgeous wee boy. I thought of other parents who had perhaps not received as positive news as we had and pondered on how we should be thankful for our amazing NHS.

It also made me think of DNA in the micro and macro levels. I’ve bee inspired this week reading about the 1820 Scottish Uprising. I had been taught about Peterloo at school but never about what happened in Scotland. In Paisley where I live ordinary people were organizing themselves to overthrow the State. They demanded worker’s rights and Scottish Independence. This was hidden history the things you are usually not taught at school. I believe we have this thread of radical DNA running through us. Folk like Hardy, Baird and Wilson died so we could have the right to meet with other workers and could campaign for Independence. They have passed the torch onto those who protest today who think of the bigger picture and campaign against injustice.

Maybe one day they will find the gene for a propensity to protest but I hope not. The human genome project may have mapped the entire DNA map of what makes it human but do we understand it all? Like my sons’ autism it may give clues but never fully explain what makes us who we are. However we should be proud of our inheritance and thank those who went before us that we have the privilege to protest. Let’s not waste the opportunity but carry on the torch to those who come next.


About sandrassp

I am the mum to two sons who both live with autism. I give glimpses into my life. All views are my own
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