Kitchen-sink science in the autism wars

We’re just emerging from a very hard fortnight at the coalface of severe autism. Our poor boy has been hyperactive and at times, psychotic. As ever, this period started with non-stop talking alongside worsening communication. You know it’s coming as he stops answering or asking questions or even acknowledging people. He erupts in bursts of violent energy that involve clapping, vocalising and jumping with such tremendous force that if upstairs, the whole house shakes. At its worst he hits his head, hard. Sometimes with both hands but mostly on the left. He looks completely demented when this happens, and it makes me cry. We’ve had successive nights with no more than 2 or 3 hours sleep and he carries on relentlessly. It is truly heart-breaking to see him suffer so much.

My husband and I have been going to bed feeling incredibly anxious, waiting for the noise and the crash. We feel sick at heart lying there anticipating the explosion as he leaps out of bed when he should be finding peace in his sleep.

Things got so bad one night this week that I phoned the GP early the next morning in the vain hope of getting an appointment and finding someone to help. I also emailed a long-standing contact in the NHS’s support team for people with learning difficulties, just to log our concerns. People need to know what it’s like. They need to register the reality of life with severe autism.

Before sending my email, I checked the spreadsheet that logs our son’s condition every day of his life. We note things like sleep, bowel movements, appetite, eye contact, whether his fingers are stuck firmly in his ears or not, calmness and any odd behaviours (and in the past we’ve had spells of spitting, swearing, burping, OCD and of course, the terrible head-hitting outlined above). We track these behaviours in relation to the lunar cycle and have identified a remarkable link to the full and new moons, especially if the tides are high, as they have been this week. Alongside that, we note anything different in relation to his diet and nutritional supplements that we add to support his metabolism.

After this week, I am looking at the pollen index as well.

The spreadsheet for this week matched, almost to the day, a period of very similar heartache in 2024. It also matched the last date when I emailed the learning difficulties team, desperate for help. In the same weeks, in both years, our son suffered terrible hyperactivity, insomnia, rage and self-injurious behaviour. Nothing is a coincidence in our world and our best guess is that a particular tree or plant pollen triggers this biochemical storm. His immune cells (mast cells) have been triggered to release histamine and other neurotransmitters that have provoked his brain to the point of madness. Reading the latest research into the connections between allergies, mast cell degranulation and links to the autonomic nervous system, things start to fall into place.

What’s more, we had already done some genetic screening and knew that our son has a genetic inheritance that reduces the rate at which he can break down chemicals like histamine, dopamine and norepinephrine. A single nucleotide polymorphism (SNP) in the gene that codes for production of an enzyme called catechol-O-methyltransferase (COMT) can reduce the efficiency of this enzyme’s work by up to 70% compared to controls. This SNP (Val158Met) has been studied in relation to aggression and neurological conditions such as Attention Deficit Hyperactivity Disorder (ADHD) and is similarly indicated in relation to autism, and it helps to explain the hyperactivity we find in our son.

Our assumptions are that once the particular pollen arrives, the mast cells release histamine and other neurotransmitters that flood his body, provoking inflammation. It takes a longer than normal time to break them down, and he might be further lacking sufficient co-factors such as Vitamins B6 and B12 that support the work of COMT. We know there are major disruptions in his gut microbiome that reflect and reinforce a lack of B12 (and I’ll write more about that in a future post on this site).

Living with severe autism requires constant vigilance, trying to find the connections between changes in the environment (such as food and toxins) and behaviour. I’ve written before about our parent-led mass observation campaign to track potential cause and effect. This is kitchen-sink science driven by an army of parents who have a massive stake in understanding what underpins the health and wellbeing of our precious kids.

When our son was officially diagnosed with autism in early 2008 the timing coincided with a conference organised by the parent-led research-oriented charity Thinking Autism, held in Guildford, Surrey, UK.

I was blown away by what I heard at that meeting. Research scientists, clinicians, nutritionists and parents were talking about the science of autism. They discussed the complicated biology that has gone wrong in our kids. People were on the edge of their seats as speakers described the connections between the bowel, brain and biochemical metabolism that keeps us alive. Despite working in a university for 40 years, I have never witnessed another room full of people more excited by science.

The conference was a lightbulb moment for me. Prior to that, none of the medical consultants we’d seen for the acute bowel problems and food allergies had connected them to immune dysfunction and related metabolic imbalances. They certainly had no idea of linking them to the work of the brain and neurological health. Even the neuro-development team who diagnosed his autism made no mention of the underlying immune dysfunction that so obviously played a role in the state of his brain. Yet here were parents, attending a conference on a Saturday at their own time and expense, grappling with human biology in a way that was alien to the specialists who were trained and paid to work in this field.

It made no sense then and it still makes no sense.

What’s more, in the 17 years since I went to that conference, there has been a burgeoning of research that unpacks the links between autism and the gastrointestinal system, microbiome, immunity, mitochondria, encephalitis and metabolic imbalances. Recent reviews of the literature include thousands of references to research that provides rigorous evidence that the bundle of symptoms we call ‘autism’ reflects whole-body biology whereby a failure in one place (say immunity) impacts on the system elsewhere (say neurotransmitters). It explains how an allergy to pollen can trigger hyperactivity, insomnia and aggression.

There is a mountain of evidence there if anyone looks. And this is the strange thing: why don’t they look? Or if they do, why do they ignore it and stay firmly locked in the past?

Trying to understand this monumental insanity, I’ve just finished re-reading Dr Bernie Rimland’s pioneering book on autism that was published in 1963. Like me, it is now 60 years old!

When originally published, autism was a new and extremely rare medical condition that was explained as a product of ‘hostile parenting’. Leo Kanner bluntly described the parents of autistic children as "just happening to defrost enough to produce a child" and to be fair, it was a comment he later came to regret. Bruno Bettelheim pronounced that ‘refrigerator Mothers’ were the cause of the problem.

In contrast, Bernie Rimland had a PhD and an autistic child of his own. He dedicated his life to understanding what could explain the strange package of symptoms he saw in his son. He forged links with researchers and other parents and is credited with debunking the parent-blaming psychological approach in favour of a science-led orientation focused on appreciating and understanding the biological cause.

In the introduction to a new edition of Rimland’s book, published in 2015 to mark 50 years in print, Dr Temple Grandin PhD, herself diagnosed autistic, declared how relieved she was to read the book in the 1960s and be able to explain her experiences as biological rather than a product of ‘psychic injury’ and ‘bad mothering’ (15).

To me it makes no sense that 60 years later, despite thousands of families reporting experiences that back Rimland up, and mountains of research proving the point, we are still waiting for the biological paradigm to be fully installed.

Autism remains the domain of psychologists and psychiatrists who diagnose on the basis of behaviour. They apparently have no interest in the aetiology of the condition, or interventions that might be able to help. Despite all the research evidence, there has been no formal recognition of the extent to which “every chronic brain disease is also a whole-body disease that can be understood and studied in terms of cellular chemistry, cell-cell communication, and metabolism” (88) as Professor Robert Naviaux from University of California, San Diego, put it in his response to re-reading Rimland’s research.

Since Rimland identified autism as a biological rather than a psychological problem, and the terrifying rise in numbers of children with autism, and the growth in research evidence, we have NOT had a shift in thinking from the professionals who set out the protocols for clinical education and practice. The dominant paradigm remains stuck in the past.

This, in part at least, helps to explain the bizarre reaction to Robert F. Kennedy’s press conference held in Washington on 16 April at which he clearly stated the ambition of the Trump administration to identify the causes of autism. Kennedy has charged his team to look at the science and investigate known environmental toxins that may be causing the problem.

Even in the UK, this press conference has been challenged as ‘misinformation’. We are told that there is no connection between environmental toxins and autism. We are told that describing autism as a problem is demeaning to people living with autism. We are told there is no need to worry about autism, because it is just another form of diversity (neurodiversity) which is a jolly good thing. We are told that the numbers of people with autism are just about greater awareness, new diagnostics and greater inclusion so there is nothing to worry about. We are told that searching for the cause and a possible cure is misinformation!

This is extraordinary. It challenges all common sense.

What is wrong with understanding the cause of the problem? Why not identify treatments to help ease the pain and suffering felt by our kids? Why not do this in time to limit the impact on the next generation?

Kennedy is brave to challenge the nonsense, to stand up for common sense and defend the interests of our children. I pray for him to succeed.

Moreover, finding the causes of autism is just the start of the process. It will allow us to reduce the growth in new cases, but it also opens the door to properly shifting the paradigm in autism treatment.

If we understand autism to be a manifestation of disrupted biological function and whole system bio-chemistry, this demands a very different approach to medical practice. It brings autism into line with other chronic, inflammatory diseases that are crippling western societies, all of which require a new approach to understanding health and disease. Kennedy has a lot on his plate. The very future of medicine itself is at stake.