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.
Dr. Adams video on new autism phenotype.
ReplyDeletehttps://youtu.be/CiNdi--LByY?si=4RmSp7DUH0l-VSR9
Guess you can get a urine test to help diagnosis it.
-Stephen
The even wider spectrum of level of understanding in ASD by parents and medical professionals is scarier than ASD itself.
ReplyDeleteIndeed it is. It is a journey no parent wanted to be on, but some people like our readers Stephen and Marco really take it seriously and see the rewards.
DeleteDoctors tend not to be helpful and can be quite obstructive, but there are exceptions.
When you see how one pill can make your child talk (leucovorin), or one shot (omalizumab) can help talk in complex sentences and play a board game with you. You become hooked. In the world of rare diseases, you're their only hope.
ReplyDeleteA great book to read this holiday season is "Chasing My Cure" by Dr. Fajgenbaum. Castleman's disease has some interesting overlaps with Autism. Like the use of IVIG and Rapamycin as treatment options.
https://chasingmycure.com/
-Stephen
Dear Peter, thank you for this wonderful blog which is a light for us parents. I am an Italian mother of a 6yo autistic child, 24 kg, non-verbal, who has been doing ABA for 3 years with small and fluctuating improvements, especially on a behavioral level. He eats everything, he has no particular allergies, he now sleeps quite well at night. I have consulted the pages of your site and would like to do a trial with a pharmacological treatment. After much time and difficulty, I managed to get Bumetadine (1gr)from France. Now I ask you: regarding the dosage, how much Bumetadine to take him? once or twice a day?When is it best to take it, in the morning or evening? Do you recommend a potassium supplement from the beginning to avoid electrolyte imbalance or is it sufficient to follow a diet richer in potassium? regarding Nac (I have fluimucil syrup) how much to give? If you have other suggestions, I can only thank you. Thanks again for your support. Federica
ReplyDeleteFederica, 1 mg of Bumetanide once a day is a good dose to trial. The best time of day depends on how disruptive the diuresis will be. For us it worked best first thing in the morning. I suggest you add a 200mg potassium supplement and a banana a day.
DeleteIf your child is a responder you should see changes after 10 to 15 days.
For NAC I suggest you try 600mg three times a day. It is a lot and you may need to look for less expensive types of NAC like capsules.
High dose calcium folinate is definitely worth trialling for speech. Try 15mg. And see if there is a benefit. There is a liquid version sold on iHerb. The drug version is inexpensive in Greece and maybe also in Italy.
Thank you so much Peter. From what I understand here, you recommend trying one drug at a time. If so, I'm thinking of starting with the Bumetanide today and in a few weeks introducing nac and then calcium folinate. Do you think it's a good program?
DeleteA last question:
From your experience, when might the first benefits of calcium folinate be seen since its introduction? and what are possible side effects of calcium folinate?
Yes, a step by step process allows you to know which therapy is genuinely helping.
DeleteNAC works very quickly and most responders show a benefit either on day one or very shortly thereafter. It does depend on you having the opportunity to see the changes in behaviour or getting feedback from others.
My son did not respond well to calcium folinate, it made him aggressive. This affects a significant minority. Most children have no side effects, they just talk more and may show a higher IQ.
One thing i dont understand is its fine to say you want to cure other neurodivergent conditions like adhd and everyone is happy but if you say you want to cure asd some get triggered.
ReplyDeleteI also find it strange how people with ADHD automatically want drugs to treat it. Yet the very same people believe their "autism" is untreatable. I think the reason is that doctors discovered long ago (before world war two) that stimulants were usually a very effective treatment for ADHD. Back in those days disability was not a cool thing. So ADHD today sits with bipolar and schizophrenia that are viewed as treatable and should be treated.
DeleteModern autism includes odd, obsessive and delusional. These people do not have well thought views that can be substantiated, but due to social media they do have a voice. This voice gets magnified because nowadays Western society is looking for the next oppressed minority.
In the research however severe autism does not suffer, in spite of what some people think. There is a vast wealth of relevant research.
Hello Peter, I've been reading your blog for the last few months, thank you for all your efforts to share your approach to treating autism symptoms of your child!
ReplyDeleteI'm a father of an autistic 5-year old boy. He has echolalia but can't communicate. He knows letters, numbers and can read a little. Completes a lot of different phrases after me. He has poor motor skills for his age – can't throw a ball or use a pencil, shows stims, hyperactive – can run around our apartment for hours and can't sit still.
I'd like to try bumetanide but we live in Kazakhstan and I don't have access to it here. But we do have torasemide. Looks like there's not much research on torasemide and autism. I was wondering about a safe dosage for my kid (again 5 year-old boy weighing about 23-25kg). Can you please help me identify the starting dosage?
Bumetanide is the only NKCC1 blocker that has been well researched in autism. There is evidence that both Azosemide and Torasemide might well also work. I found that Azosemide works but never tried Torasemide.
DeleteThe equivalent dose as a diuretic to 1mg of Bumetanide is said to be 10 to 20mg of Torasemide. Being cautious, I would try 10mg for two weeks, if you see no effect then I would try 20mg for another two weeks. If you see a positive effect then great. I would give the dose all at once and not split into two doses to maximize how much gets through the blood brain barrier.
If you still see no benefit I would try and get bumetanide. I know that people in Russia do use it.
Hello Peter , my 5 year old is now showing sensory issues. Closing his ears in gymnastics class and outside loud places. But when I ask he says he is fine. I want to try potassium and magnesium..what dosage is best for 5 year old with 22 kg weight. Floradix magnesium can I give ? It doesnt say what magnesium it has like mag glycinate etc. Can you pls suggest .
ReplyDeleteWe will soon start with yeast & parasite meds nistatin, macmiror and b12 shots as prescribed by our Italian Dr. A. Before starting those meds I want to trial potassium. Pls advice.
Gabbana, I would try something around 250mg of potassium with 75mg of magnesium. You need it with a glass of water to avoid any GI irritation. I don't think it really matters what type of supplement you use.
DeleteFor some people the impact does not last long, while for others it lasts all day.