The best place to begin is September 2018 I suppose, and that is not the beginning, by then I was already thirty-five and my children were nine, seven and four. Married and dealing with the usual plethora of family-based issues it had been an interesting journey to that point but nothing too out of the ordinary.
The letter arrived with the normal post, a few pieces of junk and most likely the most recent edition of Muscle & Fitness magazine. It was innocuous and nondescript and I will admit it was most likely not the first thing opened that morning. It was most likely my wife who opened it but I remember unfolding the letter at some point that day.
The first thing that struck me was the paper, that may not seem relevant but the NHS has a way of saving money and this paper had no doubt been one of those money-saving efforts. It was dingy paper, looking off-grey as opposed to crisp and clean paper I would expect.
Now I don’t consider myself uneducated, if I knew where it was I could show a 2:1 BSc Psychology degree before I diverted my career into Policing but this letter may as well have been written in the ancient tongue of the Egyptians for all the sense it made. In fact when at college I tried to learn hieroglyphics as I was obsessed with The Mummy films and almost did an Ancient History course at University, sorry I digress.
Back to the letter! It was crammed with words, names and details of my oldest son and nothing I had expected to see. Such a simple piece of paper, holding it then I did not understand what it would mean (in fairness I still don’t understand all) of it but we at least had a starting block.
Aside from the horrible paper it was printed on, the next thing I noticed was the fact some very clever doctor had sent me the phone number for the moon. Literally an intergalactic phone number and dialling code as my eyes scanned to a line of bold text that looked like some mathematical equation:
arr[GRCh37] 12p13.33(2224825_2260042)x1
Someone reading this may make sense of it but for me it was the same as looking at a secret code. I half expected Tom Hanks to come running in with his floppy hair and use his Dan Brown powers to decipher it.You won’t be surprised to hear that didn’t happen, and it left us trying to understand what it meant.
The letter explained some bits in very complicated terms but I remember reading it and focussing on a lot of negative words. I think this is where the system falls down and in my profession I know I am guilty of the same. For those of us that understand something it is very easy to just be very matter-of-fact with information we take for granted when, in reality, those receiving it can feel overwhelmed and confused.
I remember something similar when dealing with an incident at work, a fatal car crash, and explaining to a new officer what the plan was for the scene and family. After ten minutes of glossing over the fact we were stood in the middle of a scene of carnage,I realised I had taken it for granted they knew about the inner workings of crash investigation, evidential processes and the likes. They were only a few weeks into the job and I’m sure I had that same look on my face as I read the letter as they did stood in the middle of that scene.
With the letter in hand I remember focussing on key phrases:
“LOSS of material from chromosome 12p13.33 – significance unclear.This family should be referred to Clinical Genetics…”
“The clinical significance of this finding are unclear…”
“This loss has resulted in an intragenic deletion of exon 3 of the OMIM gene, CACNA1C, which plays a role in neuronal survival, synaptic plasticity, memory and learning. Missense mutations in this gene have been associated with cognitive abnormalities and autism…”
Imagine being given the list of “worst-case” and told they weren’t sure what it meant. I remember my head spinning and trying to work out what any of it meant while being told one of us had most likely passed it onto him.
The latter part, mentioning autism, was ironic as we had referred my youngest son T (by then 7)around concerns he was showing autistic traits. That was a whole extra battle to get him assessed and supported but the irony was this clinical finding wasn’t to do with him (that we knew of).
So with the letter in hand I did what every confused parent or person does when they need to find something out, I consulted Dr Google. Over the next few weeks I tried to understand everything about 12p13.33 and the CACNA1C stuff and found out little bits but nothing that shed any light on what it meant.
Although A was only 9 at the time he knew that things were being tested and is mature for his age. I had always promised him we would be open and explain things as we went along and considering the fact we needed to get tested too meant it was only fair he knew.
By coincidence the day after we got the letter was the second phase of me getting a tattoo on my arm I had spent months designing. When I sat down in the chair for the second session,I sheepishly asked my tattooist if she could add something to part of it, considering she had done all the outline work and it was a “colouring-in day” when I explained my thoughts she was more than happy to add two numbers to the design.
By the time I finished the session I had added the number 12 to the design, and I used that to explain to A about the letter that night. My logic for adding the 12 was a subtle thing but even then, not knowing what it meant or where it had come from, I built my whole tattoo design on my life story so adding the anomaly of my son’s genes felt a perfect fit.
I remember sitting A down on his bed and trying to explain the fact part of his genetics was missing, how do you explain that to a child? How do I explain it when you don’t understand the implications yourself?
I sat for ages trying to think of a way, picturing in my manic little brain what it all meant and all I could think of was the opening credits to the original X-Men film. Computer generated genes and DNA graphics with the theme music echoing around in my head.
‘Mate, you’re an X-Man!’ That’s the way I did it.
It was the easiest way to explain it and to say he latched onto it would be an understatement, he was walking around like he was Wolverine or something but it helped in making something scary seem like more a gift than anything else. Considering we did not understand what it meant it seemed the right way to deal with it.
Now to deal with the fact, as his parents, we needed testing too. That way we could see if the deletion held any significance or if in fact it was nothing more than a rare chromosome disorder with “unknown clinical significance”.
We booked in to see the nurse and took the letter with us which turned out to be a smart thing to do. A five minute appointment for two blood samples soon turned into a comedy of errors lasting half an hour as, between us and the nurse, we tried to work out what blood in what tube in what way. We got some blood into a tube and then began the wait.
It was the start of September and we expected a six week lead time on the results.
At the end of October I would be working away from home during the week but, by then, we should know.
A was convinced he was one of the 1% who created the deletion without a family link whereas, as his parents, we sat there and looked at ourselves and family history and tried to work out whose “fault” it was.
By the time I went on my course, and had heard nothing, I was convinced it was me.
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