“Why do I have autism?” “Can you make it go away?” “Is there a cure?”
Leo wants answers, and has for years, especially when he is struggling to make sense of the world and his feelings. I have been able to give him an answer to the last two questions; “sorry lovely, no”, but that answer has often created more questions, mainly “why not?” and “why me?”.
There are a lot of people out there in the world who are sure they have the answers; the ABA experts, the anti-vaxers, the modern day charlatans touting pills full of bleach, the psychologists, the psychiatrists, the geneticists. But with all of these voices, whether reasonable, or the plain fucking deluded ones drowning out the reasonable ones, shouting in your face that they know the reason, they can sell you the “cure”, it is hard to pick out anything I can present to my son without breaking his already fragile self esteem and scaring the shit out of him.
I have hated not being able to give him answers, and I have wanted hard empirical answers as well. When I was confused and scared when autism first came into my life I found a lot of reasons “why” out there that blamed me, blamed my parenting choices or lack of action, blamed my lifestyle, blamed what I put in my body, blamed where I chose to live even; so many that I stopped looking. “It is in the genes” was the closest I got to an answer that made sense, but that voice was hard to hear over the online clamouring for my attention. I read Steve Silberman’s amazing book “Neurotribes” four years ago and clung onto it like a life raft, and just got on with the business of looking after Leo as best as I could.
But as of a couple of weeks ago it looks like we have the start of an answer, thanks to genetic research.
Last summer I had a call from Leo’s paediatrician, let’s call her Dr L, to discuss upcoming blood tests he was booked in for. Would I consider him being put forward for some research into genetic links to autism? It would involve having an extra blood test at the same time as the other ones, to see if he has any chromosomal differences that may be linked to autism or other potential health problems. His results would be added to a database for further research, and if any anomalies were discovered, further research could be done, including testing me and Leo’s dad to try and get an idea if any chromosomal abnormalities were inherited.
This sparked my interest. I am often amazed that it has not been announced as set in stone that genetics have a huge part to play in neurodiversity. When my son was going through the complicated diagnostic process; reams of pages of multiple choice questions for me, probing questions about my pregnancy, birth and early relationship with Leo, a roomful of professionals studiously watching how he threw a ball, held a pencil, played with toys, described his emotions, it was never officially asked whether anyone in mine or his dad’s family had ever received a diagnosis of autism.
I managed to get Leo’s paediatrician to agree to an ADOS (Autism Diagnostic Observation Schedule) back in 2014 (its like the golden ticket to a diagnosis and all the help and support that comes with one).
After the ADOS, the lead speech and language therapist saw us out of the room and into the reception, and, surreptitiously looking over her shoulder as she held the door open, making sure no-one else was around, as if she was about to offer me an 1/8th of weed on a street corner, she asked in a low voice “one more thing, does he remind you of anyone in his family?” I replied with a wry smile that he did, very much so, and she nodded emphatically and said “I thought so”.
Genetic factors obviously were an essential component to her diagnostic process, but not to the official ADOS.
In Neurotribes, Silberman outlines his early work around autism in the late 90s with the engineers working in silicone valley, and the patterns emerging showing the higher percentage of their children receiving diagnoses of autism. A study in 2016 claims that younger siblings of children diagnosed with autistic spectrum conditions are 14 times more likely to also be diagnosed with an autistic spectrum condition (1). Parents of autistic children can and do spend hours telling eachother tales of how their husband / dad / sister are definitely on the spectrum but in complete denial. More and more adults are getting a diagnosis themselves after their children do.
So yes, I am happy to do whatever I can do to help drown out the voices screaming blame in our faces on heavy metals and parenting choices, to get genetics officially highlighted as the main factor on the diagnosis map for autism.
I received a phone call a few months after his blood tests. I had forgotten about the conversation to be honest. Leo has a small mutation in the second smallest chromosome called chromosome 22. There are two in every cell of your body; one from each parent. Part of his chromosome 22 is duplicated on its long arm; he was born with this duplication. If this chromosome is abnormal you can be predisposed to some neurological conditions like ADHD, schizophrenia (if there is a deletion) and autism (if there is a duplication).
My first reaction to this news was relief born from the gift of constant parental guilt; “Phew! I have been let off the hook! It wasn’t due to me getting Leo vaccinated for deadly diseases, bringing him up in a polluted city, or choosing to wear pink knickers the day I went into labour after all”. My second was excitement at the thought of being able to give Leo a solid reason as to why he has neurodiversity woven into the fabric of his being. He likes neat answers to all of life’s problems, and genealogy is the ultimate.
The next step is to wait for a letter from a local clinical geneticists team. They will want to see Leo, and with his and our permission conduct further research, and maybe even test me and his dad as well, as part of their research. I am excited to potentially have an answer, curious to see in what way my genes may have played a role, and glad to be able to be a part, albeit tiny, in helping disprove the quacks out there selling their snake oil ideas on the internet.
Just like chromosome 22 is tiny, but makes a big difference when it comes to people’s neurodiversity, wouldn’t it be great if me and Leo can be a tiny part of making a big difference too?