Part 7: The Gene Genie

Hello again, everyone. I hope you’re all as well as can be expected in these challenging times. Oh, and apologies to the memory of the wonderful David Bowie, for my mangling of his song title. I’ll be talking about the genetics of autism in The Aut Files section of the blog, a little further down.

I’ve had a reasonably good week. I deliberately say reasonably good, rather than a great week, or a brilliant week, because something gave me pause for thought about how I feel yesterday. Someone posted a link to an online autism test on Reddit, and out of interest, I took the test. I expected the result to come out as mild autism, but it actually returned a result of moderate. I’m not posting a link to the test here because, as yet, I have not been able to verify how accurate the test is, or how reputable the company behind it are. But anyway, I digress. The point is, the test asked a question about how often I feel happy…

Over the last few months, I have become much more introspective, and more analytical of my mental and emotional states. I can and do experience pleasure and fun. However, I live in a constant state of anxiety. I didn’t always realise I was in a state of constant anxiety – after all I’ve been like it my whole life, so for a long time I just took how I feel as normal. It’s significant that it has taken for me to reach my mid-fifties to realise the true situation, and the realisation has only been reached on the back of the mental and emotional exhaustion of autistic burnout. With this new awareness has come the knowledge that I don’t believe I am ever, and probably never have been, happy. I understand as I type those words how grave that claim, or admission, is. My whole life has been spent trying to operate in a world which is at many levels, alien to me. Happiness has been absent.

Contrary to a stereotypical view of autistic people, I do have a sense of humour, and I can empathise. I laugh, cry, love, hate, and have fun. But happiness? I think it is beyond me. Many times in my life, I will have told people I am happy. But I now realise I had misunderstood the concept. To paraphrase Inigo Montoya from cult movie The Princess Bride, I kept using that word, but it didn’t mean what I thought it meant. What I experienced in the times I’ve referred to myself as happy, I think, were things like fun, pleasure, satisfaction, success and so on.

With this new awareness in mind, I feel it would be somewhat disingenuous of me to continue to use phrases like I’ve had a brilliant week, because how brilliant can anything be if you can’t be truly happy? And how can I expect to be happy when I live every second of my life in a state of heightened anxiety?

So, I’ve had a reasonably good week. My constant anxiety had dialled down to a lower, more manageable level. I have felt less depressed. I have made progress on my novel, Aberrations, and I have found a little time to read, and a couple of occasions to be physically active. My anxiety, driven by my autism, is not going to go away, but with that in mind, I can still say the last week hasn’t been too bad at all. It’s good that I feel positive, because on Monday, I am back in the office for my day job. I’ve been off for a few weeks after my recent mental health crisis, but it is time to go back and try to function again. Wish me luck?


Aberrations

Since last Saturday, I have written 3,729 words on the novel. I wrote something every day except for Wednesday, when a break in the rainy weather gave me the opportunity to do some overdue work on our new landscaped garden. There was a fair bit of heavy lifting, and some other manual work required. My wife and I worked on it all day, and were absolutely exhausted by the end of it. But it was worth it. I love how the garden looks. When the plants have settled, and start to thrive, it is going to look amazing.

But anyway, back to Aberrations. I have now completed thirty-six chapters of the novel, but I’ve skipped chapter 36 and written chapter 37. Why would I do such a crazy thing? Basically, when I looked at my chapter plan, I realised I would get more dramatic punch by swapping chapters 36 and 37. But by the time I made this decision, I was already mentally geared up to write the part of the story that was originally going to be 36, but will now be 37. So, I just went ahead and wrote that. The fact that I was able to fairly comfortably accommodate this change, without stressing about it too much shows how much more relaxed I have become over the last few days.

I am still feeling pleased with how the novel is going. But don’t be fooled; when I say I’m pleased, what I mean is I’m as pleased as you can ever be with a first draft. I often repeat a quote which is generally attributed to Ernest Hemingway: “The first draft of anything is shit.” I can see the many faults in this first draft, but it is all about getting words down for now. The second draft is where the real writing emerges, but you can’t do a second draft until you finish a first draft. I think readers will find the characters interesting, and the story engrossing. That’s all I need at this point; everything else will follow.


The Aut Life

This week, I finished listening to the audiobook of Neurotribes: The Legacy of Autism and How to Think Smarter About People Who Think Differently by Steve Silberman. I cannot recommend this book highly enough; it is definitely the best thing I have read about autism. The book traces the public and scientific attitudes to autism, through a number of biographical summaries of autistic individuals, and the medical authorities and experts who have tried to define and treat autism. At times, the book moved me to tears. Listening to how Nazi Germany treated autistic children was heartbreaking. But it wasn’t just the Nazis that abused autistic people. Some of the methods of so-called treatment over the years in different countries have been horrific, and progress toward a more humane approach to autism and autistic people seems to have been hampered by the ambition and stubbornness of the recognised experts in the field. Still, there are many uplifting stories along the way, and the book offers a panoramic and comprehensive view of autism in modern times. An absolute must for anyone even remotely interested in the subject.

I also started and finished the audiobook of Sy Montgomery’s short biography, Temple Grandin. The name Temple Grandin will be familiar to most people who have become interested in autism. Montgomery’s book is written in a very simple, inclusive style, and although at such short length its detail is necessarily limited, it still evokes a vivid picture of its subject.

One minor problem I have with the book is that, even though the author goes to some lengths to correctly point out that all autistic people are different, and that autism is a broad spectrum, she still nevertheless persists in listing some of the more well-known and, one might say stereotypical, symptoms and signs of the condition, as autism. It is potentially slightly misleading.

However, the story of Grandin’s life, and her struggle to come to terms with autism and the neurotypical world is fascinating. Many people, myself included, see Temple Grandin as an inspirational figure, and I recommend this book to anyone unfamiliar with her story.

I’m also part-way through the kindle book, The Demon in the Machine by Paul Davies, a book which has made me quite angry. The premise of the book is to try to define life. No easy task. And this isn’t about anything philosophical, like trying to find the meaning of life; it is simply about finding out what makes inanimate matter different to living things. Ostensibly, Davies’s thesis seems to be pointing out that the difference between inanimate matter and living things is information flow, and he starts to make a compelling case. The section on genetics slows a bit, but then when the author moves on to epigenetics, I found things getting really interesting – particularly as this relates to a subject I discussed in last weeks blog, and intend to investigate further; the balance of nature and nurture around autism. But then Davies takes a sudden left turn down a bizarre rabbit hole, appearing to attribute intentionality to the natural genetic mutations of all living things; the mutations that drive evolution. He also puts forward a bizarre theory on the nature of cancer. It really is extraordinarily strange. I am no expert on genetics, but I am interested in how evolution works, and have read quite a bit on the subject, as well as touching on it when studying for my degree, so the direction taken by the author set several red flags waving for me. But I needed to check, and so I carried out a little google-fu. Paul Davies is a highly respected, award-winning scientist… but his field is physics. I don’t know why he has ventured into biology, but I’ve found I am not the only person to find some of his ideas troubling. In Evolution News and Science Today, Robert Schedlinger says:

“If I didn’t know any better, I would swear that The Demon in the Machine had rolled right off the presses of Discovery Institute” (the Discovery Institute is an organisation that champions belief in intelligent design – don’t get me started). He has also come under fire from various quarters about his views on cancer, from people who have actual medical training. As the Respectful Insolence blog put it:

“As a cancer surgeon and biologist, I couldn’t help but be monumentally pissed off […] The hubris just oozes from every word of Davies’ quoted. So does the condescension and contempt for us poor, poor, oncologists, surgeons, and cancer biologists, who (or so Davies apparently thinks) are so deeply embedded into the existing paradigm that they can’t appreciate the brilliance of his insights.”

Why do some perfectly good intellectuals and scientists get drawn into nonsense? It really can be very damaging when this happens. A favourite example is Linus Pauling, a genius in biochemistry who went off the rails somewhat with health and nutrition, and his advocacy of vitamin C as some kind of magic cure-all that people still believe in today.

Anyway, I will finish the book, but probably with a bemused expression as I read it.


The Aut Files

Last week, I talked about nature and nurture. While I am no expert on genetics, I have discovered in my learning about autism that it is generally agreed in science the cause of autism is genetic. This was not always accepted by the people who were supposedly experts in autism. Leo Kanner, the originator of the idea of refrigerator parents, long believed that autism was caused by parenting. Thankfully, this kind of nonsense is now discredited. That is not to say, however, that parenting, along with other social and environmental factors, has no effect on autism. The aforementioned Temple Grandin clearly benefitted greatly from having supportive people around her, especially her devoted mother (although not her father, who thought Grandin was “insane” and wanted her institutionalised). But make no mistake, the cause of autism, or to put it another way, the source of autism, is genetic. But how do we know?

It is widely recognised that many autistic people have parents who have displayed autistic tendencies. This is a big hint that something genetic is being passed on. But scientific work has also revealed another big tip-off; the likelihood of autism in pairs of twins. Exact figures vary, but most studies show an extremely high chance that if one identical twin is autistic, the other will be too. The figure drops dramatically for fraternal twins. This is a pretty compelling argument for the genetic source of autism.

However, there is no single autism gene. No one can look at your DNA and point to a gene that is responsible for your autism. This makes sense, as autism itself is not one condition; it is a spectrum of conditions. So, you can expect many genes to be involved, and the combination of genetic mutations leads to the mind-boggling variation in autism spectrum disorder. Having said that, science is narrowing down actual individual genetic components of autism. As long as five years ago, Medical News Today reported that the University of North Carolina School of Medicine discovered a mutation in the gene UBE3A which leads to abnormal brain development and autism.

Also, the Centre for Autism Research has claimed that between 500 and 1,000 genes may be implicated in autism.

The science is ongoing, and I’m sure there will be more revelations to come. But for now, it is simply important just to understand that there is definite, physical cause of autism, as confirmed by science. It is foolish to suggest that any autistic person must have had bad parents.


That’s all for this time. Stay safe, take care.

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