Most of my interactions in the world of treating autism are with people I have never met, but you cannot help keep learning new things.
I was recently contacted by a mother who is computer programmer and so used to dealing with “exact sciences.” She had read my book and noted from it that genetic testing in autism often misses important genes. Her child’s report stated that there were no mutated autism genes found. She asked if I know how to analyse the raw data from the testing. That is a bit too technical for me, though I discovered you can upload that file to ChatGPT for analysis. I said that all I do is take the 10-20 genes highlighted in the full report and look them all up, regardless of whether they are obvious autism genes or not. Back came the very short list and after a couple of minutes “Bingo” there was the gene. It was not on the lab’s “autism list,” but in the research one of the genes is described as having potential to cause autism.
In a perfect world the testing lab would have an updated list that includes all the genes known to cause autism, or indeed intellectual disability. It is not the exact science the mother is used to, it is sloppy science. You must dig deeper than you thought would be really necessary.
I did meet, in real life, the parents of a young child with severe autism a week or two ago. They had tried all sorts of expensive therapies, from stem cell therapy to GcMAF from Japan. There was a scandal in the US and Europe a decade ago when GcMAF was marketed to treat cancer, autism and other conditions. In Japan it is still used in alternative clinics, but it is not an approved therapy or a regulated drug anywhere.
I was told that in Japan GcMAF is now made from a patient’s own blood and saw that it is marketed as a "personalized" or "natural" therapy. The process typically involves isolating the Gc protein (a vitamin D-binding protein) from the patient’s blood, chemically modifying it to activate macrophages, and then injecting it back into the patient. I have no idea if it works.
I dared not ask how much it cost, but I did ask if it helped. I suggested that in autism the cheapest and safest therapies are often the most effective.
One reader of this blog remains a fan of the original GcMAF that was produced by David Noakes' company Immuno Biotech. He later went to jail in the UK and then in France for selling an unlicensed medical product. In June 2015 Dr Jeffrey Bradstreet, a well-known autism doctor who used GcMAF, was found dead the day after his office in Buford, Georgia was raided by the FDA, searching for evidence of illegal medical practices related to unapproved drugs.
Japan seems to be more “anything goes” when it comes to alternative medicine. This is probably not what you would have expected. GcMAF is still marketed there to treat cancer and autism.
Safety
Safety should be the prime concern when treating autism. I recall being told the key insight a mainstream doctor took away from attending the Brain Foundation’s autism conference in California a while back was that “you actually can safely treat autism.”
The GcMAF mother did ask me if it was safe.
Using common existing drugs that have been repurposed for autism is safe, as long as they are used responsibly and care is taken regarding interactions and the listed side effects.
Drugs taken orally are often considered inherently safer than those administered via injection or infusion for several reasons, perhaps the key one is the barrier of the digestive system.
When drugs are taken by mouth, they pass through the liver before entering systemic circulation. The liver metabolizes some of the drug, which can detoxify harmful substances or reduce their potency. This serves as a protective mechanism. The stomach and intestines have mechanisms to break down and filter harmful substances, adding another layer of safety.
Injectable drugs require sterile preparation and administration to avoid infections. Oral drugs are less prone to contamination since they do not bypass the body's natural barriers.
Gene therapy can be risky, as was shown recently in a trial for Rett syndrome:
Patient Death in Rett Syndrome Trial Forces Neurogene to Drop High-Dose Arm
Despite the death, the FDA has allowed Neurogene to forge ahead with the Phase I/II Rett syndrome trial, but using only the lower 1E15 vg dose of its investigational gene therapy NGN-401.
Neurogene revealed in an SEC filing on Thursday that a patient has died in its Phase I/II Rett syndrome clinical trial after being dosed with its investigational gene therapy.
The patient had been treated with the higher, 3E15-vg dose of NGN-401 when they experienced what was initially described only as a treatment-related serious adverse event (SAE). In a follow-up announcement on Monday, Neurogene disclosed that the patient had developed systemic hyperinflammatory syndrome—a known but severe side effect of adeno-associated virus gene therapies—and was in critical condition.
The plural of anecdote is data vs The plural of anecdote is not data
"The plural of anecdote is not data" is a commonly used phrase in scientific and analytical discussions. It highlights the idea that individual anecdotes, no matter how numerous, do not constitute reliable evidence or robust data without proper scientific methods like controlled observation, experimentation, and statistical analysis.
The phrase the plural of anecdote is not data turns out to have been a misquote. The original observation, by the political scientist Ray Wolfinger, was just the opposite: The plural of anecdote is data.
Ray Wolfinger said this to emphasize that anecdotes, when systematically collected and analyzed, can form the foundation of meaningful data sets.
Wolfinger's point was not to dismiss the importance of rigorous scientific methods but rather to highlight that even seemingly small, subjective observations—when aggregated and scrutinized—can reveal broader patterns and insights.
This perspective challenges the overly dismissive view of anecdotes in research, acknowledging their potential as the seeds of inquiry and evidence in contexts where comprehensive data collection may not yet exist.
Human biology is not an exact science
The phrase "human biology is not an exact science" reflects the inherent complexity and variability of biological systems, particularly in humans. Unlike the physical sciences, which often operate under strict laws and predictable outcomes, human biology involves numerous interacting factors, such as genetics, environment, lifestyle, and individual variability. This makes it challenging to predict outcomes with precision.
Key reasons include:
- Genetic diversity: Each person has a unique genetic makeup, leading to different responses to stimuli, medications, and conditions.
- Environmental influences: Diet, climate, socioeconomic status, and exposure to toxins vary widely among individuals and populations.
- Biological variability: Even within the same individual, factors like age, hormonal changes, and microbiome composition can cause variations.
- Unpredictable interactions: Complex systems, such as the immune response or neural activity, often defy simple cause-and-effect explanations.
As a result, human biology relies on probabilities, trends, and patterns rather than absolutes, making it a science of approximations and context-dependent insights.
Again, bumetanide works for some
Our reader A.W. recently completed a trial of bumetanide and in parallel the pediatrician made a trial on her own 5-year-old granddaughter with severe autism. Bumetanide did not work for A.W. but it did for the 5-year-old granddaughter. Notably her speech increased from single words to multiple words. Continued use will now certainly bring profound benefits as she grows up.
We see that human biology is not an exact science, but the situation is made worse by diagnostic stupidity. We know that there are many hundreds of biological dysfunctions leading to the umbrella diagnosis of autism. All autism is still lumped in together in these supposedly gold-standard randomized clinical trials. In layman’s terms you have to compare apples with apples, not apples with kiwis.
As a result, all large randomized clinical trials for core autism symptoms have failed and will likely continue to do so. Even the large bumetanide trial failed.
Meanwhile some people, now including A.W.’s pediatrician, will continue effectively treating a small number of children and adults with autism.
Conclusion
When I presented my take at the recent autism conference in Abu Dhabi I did have a confrontation with the moderator of my session.
I presented the scientific logic behind treating autism but what he saw was someone dealing with anecdotes. He said he only believes in randomized clinical trials. 15 years ago I would also have thought like him—then came my epiphany.
I then learnt the benefit of tinkering with things you supposedly cannot fix but cannot just throw away and replace.
I do fix many other things. I had Monty’s two electric scooters in pieces several times recently, the last job was fixing the battery pack that malfunctioned. I have no previous experience, you just start tinkering, apply common sense and solve the problem. Having a spare scooter is an advantage. I can always buy a third one.
In years only recently gone by you did discard “malfunctioning” young children into institutions. The doctor would then suggest you try again for another child and wish you better luck next time. Like buying scooter number two and discarding the first one.
Nowadays you keep such children at home, leave them untreated, and only later on put them into mini-institutions (AKA group homes).
I think it pays to tinker (play around fixing things) and improve functioning as much as possible. There is no guarantee of success, but you do have a fighting chance.
Wonder cures promoted in catchy 60 second videos on TikTok, Facebook and Instagram may not be your best choice.
