Sugar-coating Autism and Autism Misinformation

Do you tell it as it really is? Or sugar-coat it, to make it more appealing?

It looks like in the English-speaking world we are more and more being driven by emotional political correctness, rather than calling things out as they actually are. Now this does not really matter if you are talking about relatively trivial subjects, which is what we deal with most of the time, but is a problem when dealing with a serious subject. When it comes to autism, giving the cold truth is quite upsetting to many people.

Bryna Siegel, a Californian Psychologist working with autism for a few decades has been promoting her new book, The Politics of Autism, in various articles.

                            https://thepoliticsofautism.com/

She tells a lot of home truths that many parents and professionals do not want to hear and people often react very emotionally and quite aggressively. I have found myself on more than one occasion giving her support.

She has several key points to make.  Autism is indeed over-diagnosed and as long there is a financial incentive for this, prevalence will increase.

She is very critical of the results of inclusive education, based on what young people are actually able to achieve when they leave school. The idea of inclusion sounds great, but what actually matters is the end result, in terms of independent living skills and job prospects. She wonders if people with more severe autism are being taught the right skills, rather than just a dumbed-down version of the standard curriculum.

At times, even I think she is perhaps a bit too brutal, but I think I will buy her new book. Monty’s assistants are also keen to read it, so maybe I will also donate a copy to be shared.

I know one little boy with severe autism, who is entirely non-verbal, and has no sign language or facilitated communication device. I do not think he can read or write.  At primary/junior school he now has to learn a foreign language. 

Autism Misinformation

A good example of autism misinformation occurred recently following on from a popular UK daytime TV show, and was highlighted in the Questioning Answers blog.

"Has Daniel always been autistic?" 

The host was interviewing a mother about her son with autism and he asked the very reasonable question “has your child always been autistic?” This prompted an outcry from the public and a supposedly knowledgeable organisation called the National Autistic Society (NAS), the UK’s dominant autism organisation. The host was blasted for not knowing that apparently “autism is always present from birth” and “it is not something you can grow out of” and of course it is un-treatable.

Given this child was described by his own mother as having regressed at 18 months and lost his speech, he might well not have been born autistic. The research has shown that many things can trigger “autism” during childhood and we know that about 10% of kids diagnosed with autism do indeed later go on to lose their diagnosis, so they do pretty much grow out of their autism. But why let the scientific facts get in the way of the simple storyline?

I always found the idea of raising autism awareness to be odd; it very often is just promoting misinformation, or putting one random person forward to explain the condition to others. This just confuses other people.

It is much better to just raise public awareness of disability in general, both physical and mental and to tackle bullying at school. Kids should be aware that a small percentage of their peers have severe problems and a much larger percentage have less disadvantaging problems, that can often be mitigated with extra help and understanding during all those years spent at school.

People need to know that just as autism is a spectrum from severe to mild, so are many other conditions like ADHD or dyslexia. Some people just need a little extra help, but some others have profound problems. Sometime soon 10% of all kids will have a medical diagnosis, but only a small fraction will be disabled by it. 

You can have dyslexia and still make it through medical school, but don’t dream about it if your kid has Down Syndrome.

“Dr” Wakefield

I do think Andrew Wakefield was very unfortunate to have studied medicine in the UK and not the US; had he done so I rather doubt he would have ever lost his medical license and he would never have become so well known.  He has a right to his opinions and there are some far more cranky physicians merrily practising today in the US.

Wakefield seems to making himself a new life with Elle Macpherson.  This clearly upsets the UK tabloid media, who still portray him as the devil - how can the devil end up with a super model?  I wish them well. 

Wakefield likes to refer to autism as brain damage, which is rather brutal like Dr Siegel; but he is right in case of DSM3-type autism.

Nowadays people get upset if autism is called a disease, or a mental illness and even some researchers want to sugar-coat it and call it a condition as opposed to a disorder (Autistic Spectrum Condition).  

Giving a nice name to something disabling does not make it go away. It just makes some people without that disability feel better.

Having mentioned Wakefield, I suppose we have to touch on vaccinations.

It would also be great if it was possible to be entirely honest about what we know about vaccines and autism. It is well established that mitochondrial disease can be triggered by vaccinations and it can manifest as regressive autism. This does not mean that all regressive autism is caused by vaccines. This does not mean that people should not be vaccinated; it just means that there is a small risk of something bad happening. Left unvaccinated there is a much larger risk of something else bad happening. Public health believes lay people are too dumb to understand this, I disagree; you just need to be 100% honest and explain it.  It is fashionable to be selectively truthful, or let pass a little white lie. I think being 100% honest, brutally honest, is what is needed when dealing with such an important subject. 

Details do Matter

Whether it is an unusual medical condition like autism, or any scientific investigation, all the details in their entirety are extremely important if you want any chance of solving the problem.

I just had a medical procedure to correct a problem that I first raised 40 years ago. I had an operation 40 years ago for a Meckel’s diverticulum, but it was the wrong operation and for the wrong diverticulum. Last week I had the right operation and, what could/should have been identified and treated in childhood, got treated decades later. When I read the summary of the completed treatment, it is a very well written concise explanation, with all the diagnostic inputs.

Now when I compare this to autism, which is far more complex, I can see mainstream medicine in not yet prepared to try and treat it.

Where do you go to get a precise summary of your child’s unique variant of autism / brain damage, all in 100 words?  Perhaps this will also take another 40 years?

A first small step would be make sure what we do actually know about autism is more widely shared and that at least Autism organisations, with public funding, should be required to have a detailed understanding of what they are supposed to be advocating for. There are excellent organisations to represent other medical conditions, for example diabetes or even Rett syndrome, but not for autism.

Whilst waiting for my operation I had a visit from a curious Nephrologist who dropped by to take my photo (an ultrasound image) to show her friends. Being a liver specialist, she did naturally take a peek at that as well and asked if I knew I had some fat in my liver. Off she went, leaving me to figure out where this fat had come from. 

I am pretty sure it comes from another misdiagnosis I had recently.  I had a sudden reduction in hearing in one ear and not being able to resolve it myself, I went to an ear nose and throat clinic. The diagnosis was a simple case of wax in the ear. Unfortunately this was the wrong diagnosis; by the time I had returned from a trip abroad, quite some time had passed. The second doctor I consulted very quickly diagnosed an inner ear problem (Endolymphatic hydrops) that apparently is quite common but is often left untreated, leading to life-long problems. It leads to a degree of permanent hearing loss, tinnitus and potentially vertigo. A virus, infection or even a physical shock can cause a build-up in pressure in the fluid in the inner ear. If you begin treatment within a week, you have a good chance to avoid permanent hearing loss. My treatment started after almost one month, which was far too late, so I had ten days of injected steroids, starting at a very high dose.  

High doses of steroids can have many side effects, one of which is causing fat to get deposited in your liver. It seems the fat spotted by the curious nephrologist should gradually disappear. I hope so.

Not wanting to be left deaf in one ear and noting the doctor did not seem entirely hopeful, I did quickly engage myself and read up on the science and the medicine.  I regularly do this for my son, but did not think I really should have to do so for my own ear problem. Ménière's disease is an incurable condition, of unknown cause(s), that has major similarities to what was affecting me.  I found a study, with supporting MRI images of the inner ear, showing that the amount of fluid in the ear can be reduced by taking the diuretic acetazolamide/Diamox, at least in some people. I did take note of a Cochrane review saying there is no evidence that diuretics have any benefit, but I did check the MRI images for myself. There is plenty in the blog about Diamox and autism. In Ménière's disease, Diamox responders lose the benefit when they stop taking the diuretic and this is reflected in their MRIs.  Since my condition was hopefully not yet chronic, I thought the immune suppressing actions of the steroid were indeed the long term fix, but at this late stage only pretty immediate rather than gradual loss of inner ear fluid would avoid permanent hearing loss.

Since I have Diamox from a few years ago sitting at the back of my autism pill shelf at home, I decided to add that to my therapy for a few days.  Diamox is cheap, except in the US, and is usually very well tolerated. As a bumetanide family we have a good supply of potassium supplements and bananas, so no chance of hypokalaemia.

My hearing returned and I have no related symptoms (tinnitus, vertigo etc). I have no idea if Diamox helped, but I am certainly glad I took it.

Another side effect of high dose steroid plus acetazolamide/Diamox was a change to my eyesight, both near and distant vision. Both drugs can affect your eyesight, but I think it was the steroid, since I took Diamox once to avoid altitude sickness with no side effects.  The vision side effects gradually fade away when you stop taking the drug.

All this was a timely reminder that drugs and supplements can have unexpected effects and it is best not to get carried away with how many you give your child.  I did recently take Monty, aged 15 with ASD, to see a paediatric cardiologist for a lengthy ultrasound investigation and ECG because, rather bizarrely, his autism drugs are mainly repurposed heart drugs. Where we live it is simple to arrange such a check-up and there is open access to lab tests.  I am fully aware that in countries with universal healthcare trying to access anything unusual may not be possible, unless your GP “gatekeeper” is supportive.   One French parent told me that his doctor would not prescribe bumetanide for his son, but was willing to authorize the blood tests to monitor potassium, if he acquired the bumetanide somewhere else.

Conclusion

In a recent comment our reader David from Spain, who is trying to get his child into the large Stage 3 trial for Bumetanide, informed us that the current prediction is 2023 for commercialization of this autism therapy. That would be 11 years after my son began to benefit.  That is how long it takes to repurpose an existing drug.

This really makes me think that it is not just a case of autism needing personalized medicine, but rather parent-inspired personalized medicine. This is much easier if the parent is a doctor.

As I know to my own cost, medicine currently can struggle with even slightly unusual conditions, so we should not expect wonders from strangers, even when they finally do have approved drugs to prescribe.  

The key will remain parent-inspired personalized medicine. When you do finally get 0.5mg of bumetanide twice a day as an approved autism therapy, it will be up to parents to realize that 1mg once a day or 2mg once a day might actually be much more beneficial.

If you ever have sudden hearing loss in one ear, go to your doctor straight away and have him/her specifically rule out an inner ear problem. If you live in the UK, hopefully you will not be made to wait 2 weeks to get an initial appointment with your GP.  If you don’t live in a country with universal healthcare or don’t have insurance, I suppose some people just go deaf.