Although the results were due before I went onto my course in the West Midlands I found myself in week two of the course sneaking away to ring the hospital. It was an odd conversation with the nurse trying to explain that my results may be on my file, my son’s file or anywhere other than where you’d expect.
I remember she paused as she was scanning the files and I was convinced she had the results but told me different. It was most likely more to do with the fact I have am trained to be suspicious but the pause seemed inordinate and when she said “there’s nothing showing, I’m guessing the results aren’t back yet” there was something in the tone.
Still, I was some sixty-odd miles from home so in no position to press further. Back to the waiting game and, having snuck out to make the callback into the classroom to learn to be a teacher!
The whole course came and went; it wasn’t until we had moved into a hotel in Birmingham City Centre in the penultimate week of the course (assessment weeks) when the hospital rang home. They offered a cancelled appointment two days after Christmas to “discuss A’s results” as part of the Genetic Counselling they told us would be forthcoming with the results.
Finishing the course, passing it I might add, there was always that odd feeling over the celebrations. That hope that the appointment would bring with it answers and understanding to end a lot of the Google-searching with empirical evidence and medical understanding.
We arrived early and found the Genetics Department empty all except a receptionist. I wasn’t expecting much in the way of people, it was the day after Boxing Day, so most people would be still in the festive spirit but here we were, sat waiting to see the Doctor.
When the appointment arrived,they ushered us into a small office and met the specialist. He was a nice, talkative man and introduced himself to all of us. A’s attitude towards it all, having turned 10 a few weeks earlier, is very grown up, and he even caught the specialist by surprise. As we were offered chairs the doctor asked if A wanted to amuse himself and play on a phone or tablet. A’s answer was very matter-of-fact “I want to listen if that’s ok as it’s about me and I want to understand.”
The doctor explained little bits and by the middle of the appointment we had learned that such a small deletion would not have been noticed years ago. He could offer no idea what the specific deletion did and its effects and showed us the exact place on the chromosome that was missing. All very technical, all very confusing.
Crunch time!
I remember the paper folder being opened and the doctor scanning through the paperwork and results. “Well, mum” he said with a smile. “You are perfectly normal, your results show nothing out of the ordinary.”
I’m sure there was a sigh of relief from the seat next to me and I can understand that. We had spent the last few months micro-analysing ourselves and our family histories to see if we could pre-empt the results and both were convinced it was ourselves that had passed it on.
“As for you dad,” the page turned, and it was obvious from the amount of writing on my sheets. “You have the same deletion as your son so it was you that passed it to him.”
Now I know that was a very neutral comment, nothing to it other than the short answer I had sourced A’s deletion. The first thing I did was look at A who had a strange smile on his face and winked at me “X-Men daddy” and fist-bumped me. All I could say was “told you so” to him and in a way I read relief on his face.
The rest after that seemed a blur, although thinking back I had a million questions the only thing in my head was finding out what it meant for A. In my way of thinking I have always prioritised other people over myself. I know it causes tension but I recall being at my granddad’s funeral and stopping myself from crying because my mum was there and it was her dad. It’s always been easy for me to convince myself other people are more important so will forsake my own things to keep them happy.
I did that right then and focussed on helping learn about A because, in my head, I was thirty-five by then and made it this far. All we established by the end of the appointment was that because I didn’t exhibit the same symptoms as A then it was likely to be of unknown significance and the genetic investigation would stop there.
A’s symptoms that had led to this random discovery, centred on muscle control, joints and pain in his knees. At that point in time the only real link this genetic code had was with cognitive development and ASD (Autism Spectrum Disorders – poor choice of the word if you ask me but that’s my opinion).
I remember walking from the appointment and back to the car a little stunned. What did it mean? How had it affected me? Had there been things I had missed? Why isn’t it significant? Why aren’t they checking the other two kids? Where do we go from here? Am I actually an X-Man?
So many questions and I hadn’t asked a single bloody one in the meeting.
Growing up I have always been a person who masks. In my work or public appearance you’d see me as a confident and out-going individual, able to command a room or blend in but outside of that, in social situations you won’t see me. The concept of friends has always confused me and I have spent most of my life with people who “know me” or “know of me” but very few people get to where I would say we are proper friends. I am terrible in that respect and can often just fade away unless I’m wearing my uniform or mask.
After the appointment I did what I do best and boxed all the confusion away and pretended I wasn’t bothered. My stock answer was “if the doctor says it’s nothing then it must be fine” but inside I had been told I was born a little broken but just to crack-on with it because “you’ve been fine so far.”
For a few weeks I convinced myself it wasn’t important, believed the mask, but after a while my natural tendency to obsess kicked in. Back to trustee Dr Google to understand a little more about this tiny genetic anomaly and what the hell it might mean for me.
I soon found links to muscle-elasticity and as I realised how little was known about the deletion, I felt we had been dumped away into the “too difficult” box and left with a million-and one questions. The fact there were links to ASD, and we still hadn’t got support from our referral for my other son T I wondered if it would help in arguing our referral and trying to reinvigorate it.
It was at the same time I thought about me.
Suddenly, having spent hours poring over a variety of research papers and tests I did some rather brutal self-evaluation. During university I recall learning about Autism, I even did voluntary work with a young lad who was severely autistic and seeing such an extreme case had always made me think I wasn’t like that.
What I had forgotten, rather foolishly, was that Autism has a spectrum of symptoms and behaviours. I all of a sudden remembered the Autism Quotient test I had learnt about during my degree. A bit of internet work and the familiar test popped up on the screen.
How odd, I thought when the page loaded, on the screen it read “you last did this test December 2009”. Had I? Why 2009?
I completed the AQ40 and the Adult Asperger’s Assessment tests online and was not surprised with the results. With the consistent results on a variety of variations on the AQ40 test they forced me to look at myself and had that moment of realisation. I may have made it this far in life making it up as I go along but I don’t want that for my children, if they need support or anything I want them to grow properly and have what they need.
Sitting down and looking back over my life and behaviours I scripted a report I would, eventually, take to my GP as evidence for my own Adult ASD Assessment. Doing the same for T and felt awful writing such a report on behaviours and actions that we, as his parents, thought showed a similar set of traits as my own.
I remember the start of 2019 had its own challenges, but it started with me questioning who I was and how I had been in my life from a simple piece of paper that said something inside me wasn’t perfect.
It wasn’t until March of that year that I built up the courage to prioritise myself and made my appointment to see the GP. Until then, everything was about A and T who were the priority in all of this. They were still the priority, but I also had to factor myself into it otherwise I would most likely drive myself insane with not knowing.
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