UA-45667900-1
Showing posts with label Personalized Medicine. Show all posts
Showing posts with label Personalized Medicine. Show all posts

Wednesday, 9 October 2019

Treating Autism – The State of Play


Image © Acabashi; Creative Commons CC-BY-SA 4.0 Source: Wikimedia Commons


I have learnt a great deal since I started to research autism treatment in 2012 and publish my notes in this blog from 2013. Prior to 2012 I had assumed that autism was not medically treatable and that there was no evidence to the contrary, so anyone claiming to treat autism must be a quack.  You are supposed to "trust your doctor" and I come from a family full of them.  It turns out that almost all treatments for conditions of the brain, ranging from depression to Multiple Sclerosis to dementia are only very partially effective, but in most cases they are better than nothing. Apply these expectations to treating autism and then read the medical research and clinical trials; you will see that autism is indeed as treatable.  

It turns out that many people have found effective medical therapies for their autism. But autism is not viewed as a public health emergency, like HIV or Ebola and no public health authority shows much interest. Don't expect that to change.

The leaves are beginning to fall and we are on our way to 2020, much time has passed but has the wider world caught on and moved at all?  Not really.

  • Enthusiastic autism pharma start-ups come and go, losing hundreds of millions of dollars
  • Autism therapies are fast-tracked by the FDA, then go nowhere fast
  • Autism treatment case histories, using existing drugs, get published but are ignored
  • Partially successful autism clinical trials of existing drugs keep getting published and are then ignored 
  • Some very bright clinicians do not publish their successful work in treating autism
  • Clinicians successfully treating their own children with autism often choose to remain silent
  • A tiny number of mainstream medical doctors do treat autism, but some cleverly call it something less controversial, like encephalopathy
  • Many of the “doctors” who do treat autism are not doctors of medicine (i.e. an MD).  This is the case in North America where the "doctor" can be a DO (Osteopathy) or a DC (Chiropractic), for example Dr Nemenchek is a DO.  I think this is partly where the crank issue has arisen from; many MDs do not seem to like DOs and DCs, particularly if they write books with the word miracle on the front cover.   
  • Treating idiopathic autism is still viewed as a dangerous/crank activity by mainstream medicine; the  best view is fringe and the worst is cringe.
  • Treating single gene autism is now viewed quite favorably, it is somehow more acceptable that treating equally severe idiopathic autism.  It attracts at least some MDs, rather than DOs and DCs.  It is seen as something clever, like treating cancer.
  • By shifting autism to a more trivial condition, by diagnosing so many people, it appears to not even need treating
  • Many things do look very odd in the world of autism. People with a sibling or child with Autism/MR/ID can react very differently, some are inspired to help others and some even look to develop medical treatments, while others either never tried, failed or gave up and are now against medical treatment (in the UK Psychologist Simon Barons Cohen and author/GP Dr Fitzpatrick, for example). The idea seems to be that because they could not help their family member, you should not try.  Very defeatist. People should declare their inherent bias and indeed their own psychiatric diagnosis, if they have one, that would rule out 90% of what is written about autism, much of which is nonsense. In the wider world, you learn from your failures, strive for success and never give up.  That is how progress is made.  Those who have failed, or given up, should move aside and give space to the next generation who will achieve more.  If it is a disease or disability, you treat it; you do not just hide it by broadening the diagnosis to include trivial cases and then "celebrate" it as just a difference.

Hopefully, Neurochlore and Servier will get Bumetanide approved for autism in Europe in the next few years.

Hopefully, doctors will actually prescribe it to European toddlers through to adults with autism.

Only then will mainstream doctors stop saying you cannot treat core autism with a pill. In reality there is evidence that dozens of pills are potentially beneficial, but there is no sure-fire way to predict which will be helpful in one specific person. 

It has been clear for years, to anyone who chooses to actually read the medical research, that many cheap existing pills can be repurposed for various sub-types of autism.  In almost all cases, polytherapy will be needed and treatment leads to improvement rather than cure. This is also the case with MS, epilepsy, depression etc.

I hope that by 2030 at least monotherapy for core autism with MR/ID will be in the mainstream.  In the meantime a small number of people, with otherwise severe autism, will continue to benefit from their science-based personalized medical treatment.




Sunday, 17 January 2016

Autism PolyPill vs Personalized Medicine and the KD/MAD diet




The idea behind personalized medicine is the realization that humans are all slightly different and that some of the diseases they suffer, like autism, are also all slightly different.  In order to treat them optimally, you would need to use drugs and dosages customized to each person.





Here below are three slides used to illustrate Personalized Medicine in cancer care.  Instead of treating “cancer”, four sub-types are identified and then treated using four different drugs.  Each person only receiving the effective drug.













Autism is not cancer, but understanding cancer gives you a much better concept of what can underlie a highly complex disease like autism.  You need to consider multiple hits as in cancer, which is very similar to Russian Roulette.

The thing that does not seem to exist in cancer is the "double tap", when in a minority of cases, a moderate case sudden changes to a severe case.  This is caused by a new factor coming into play, or an existing factor that had been dormant. In cancer, metastasis is a progression of the existing condition, not something unrelated.  

In the above case there were just for four types of cancer and all you have to so is to find the molecular biomarker for each one.  Then you treat each person with the appropriate drug and avoid side effects from the wrong drugs.

Autism is much more complex because it has "layers" and these may change over time. You have to treat the outer layer first.  This explains why some effective autism treatments appear to "stop working".  Something else has started to work and now forms the outer layer.  This could be related to mast cells, mitochondrial dysfunction or probably a whole host of other factors.

The autism equivalent graphic above, would have people in multiple colours as if dressed.  Just as people change the colour of their clothes, some of the colours of each figure might vary over time and this is what really complicates things.

People with oxidative stress might be represented by having blue socks, reductive stress red socks and "no" stress black socks. There would be lots of blue socks and very few of red or black socks.

NAC for those with blue socks.




PolyPill

So my idea of a PolyPill arose from the idea that when a non-verbal three year old with some odd behaviors goes to his doctor, he might not come home empty handed, and not with those wholly inappropriate psychiatric drugs.  The PolyPill might contain some ingredients that were not necessary, but it would show that a single pill could produce marked improvements in the majority of cases.  All without any complicated and expensive genetic or metabolic testing.

Since I only treat one person, my PolyPill is really a perfect example of personalized medicine.  As time passes, it becomes even more tailor-made.

Monty’s big brother did recently ask why don’t you actually make the PolyPill?  Good question. I did look into this in some detail and even gave a presentation to the European drug regulator (EMA).  There are enormous barriers, few of which relate to developing the drug itself.

If I was James Simons (of the Simons Foundation) that is exactly what I would do, make a PolyPill that could help hundreds of thousands of people.  But unless I receive a call from them, I’ll be sticking with a personalized medicine called Monty’s PolyPill.

The huge advantage of Personalized Medicine is that it minimizes the number of drugs and quasi-drugs that you give.  Let's not pretend that nutraceuticals and OTC supplements are not drugs. This is a concern raised on this blog, just how many ingredients can you (safely) have?  

It certainly can be a bother dispensing them.  Your typical multivitamin contains 14+ ingredients, who would give their child 14 pills at breakfast?  Almost nobody.  But a single little multivitamin pill is just fine. Do they even need all 14?  Unlikely.



So, how many drugs can a PolyPill have?

That was Agnieszka's point in a recent comment.  Things do interact and this does include supplements as well as drugs.  It can be time consuming preparing all these ingredients, not to mention having to swallow them.

This is why someone took Dr Kelley's mitochondrial therapy and packaged it up and sell it as a single product, Mitospectra.




DAN! and Diets over Time

Another vaguely related issue is what happens to autism therapies over time.

It is clear that while allergies may moderate over time and hormonal changes have secondary effects, the core dysfunctions in autism are likely to be permanent.  You can treat them, but you probably cannot cure them.  None of my therapies seem to be disease changing.

So what happens to the thousands of kids, mainly in the US, who follow DAN therapies and diets?  This was raised recently on a popular autism blog and the conclusion was that, after a few years, the great majority of people give up.

This is rather sad.  It shows that the majority of those therapies had no significant effect on the majority of people that tried them, otherwise they would not have given up.

An example being the blog author, with one of those children who had a "second tap", that shifted him to the very severe kind of autism.  This became a new "outer layer", in Peter-speak.  What if that second tap was due to mitochondrial dysfunction (as appears to be relatively common)?  If that was the case, it is not surprising that the gluten free diet did not help, nor  HBOT etc.  Surprisingly, there actually is a diet that might have helped.  No, not the GAPS diet, but the Ketogenic Diet (KD); more a medical therapy than a diet, so well worth reading about.

I was surprised how much evidence there is that indicates that the Ketogenic Diet (and hence likely also the Modified Atkins Diet, MAD) MIGHT  help those with mitochondrial disease. There is no reason to think unrelated diets would do any good whatsoever.

In some cases the Ketogenic Diet can have disease changing effects, meaning you do not need to stay on it for life.  Many people transfer to the MAD.

So if you have a case of severe autism, resulting from a second tap, or a late regression, and nothing covered in this blog seems to help, test for mitochondrial disease.  

If Dr Kelley's therapies reverse the decline, but progress is painfully slow thereafter, it could be worth trying the KD or MAD.