genetics – AUTnotISM

Is gamma interferon with your social life?

Yesterday, we went out shopping for a new couch. Fraser loves trying out beds and couches, especially the big puffy recliner ones. After all, they are just house trampolines aren’t they? He bounces from couch to couch testing them all out for us, occasionally reclining with his sister with a wry smile on his face. After the third store though, the novelty began to wear off, not just with him but with Brian as well. I count on this boredom factor, as it usually means I have a better chance of getting the couch I want because it means we’ll get out of the store quicker 🙂 Anyhoo, Fraser did what he does when he’s had enough, he started saying ‘chipst’. Obviously, he wanted chips, but he likes to add a ‘t’ on the end for affect. So we’re wandering around looking at couches and all we hear is ‘chipst, chipst, chipst, chipst’ over and over again. He counts on us getting annoyed, as the annoyance factor usually means he has a better chance of getting the chips he wants…hey, wait a minute! So couchless, but armed with enough visual information to go on with, we headed for home with a quick stop at the drive through along the way. I say to my passengers, ‘does anyone else want chipst’? No reply. I say it again to which Eloise replies ‘i’ll have lemonade’ to which I say, ‘that’s not what I asked’. So, I just decide that one small chipst is our only requirement…easy! All of a sudden, Brian pipes up with ‘I wouldn’t mind a burger. Lets go in’. He NEVER suggests that, so, we go in to the nearest Maccas for some lunch. Fraser and I sit down to wait, while the other two decide they’re going to use some weird machine to order the food. How did it go from one small chipst to this? So, I decide to just go with flow and grab the paper to see whats going on in the world. I decide to bypass the horrific reality that is Donald Trumps speech to the world and open up a random page. I look at the article and realise, we were meant to come to Maccas, this was no accident! The universe had designed this moment just for me. There, in front of me, on page 19 of the Herald Sun, a safe distance away from Trump, was the following article …

IMMUNE VESSELS IN BRAIN LINK TO AUTISM

Now, anyone who has followed an alternative health/gut/immune lifestyle for their Autistic child knows not only innately but through years of hard work and research that Autism is inextricably linked to the immune system. The problem has been that mainstream medicine, mainstream science and especially mainstream media, all like to pounce on such inferences and put us whacko’s back in our places. The big surprise here was two fold: first of all, the information contained in the article was new to me, which is always exciting, and second, the fact that this was appearing in the Herald Sun! This is proof that these ideas that were considered ‘out there’ not so long ago, are thankfully becoming more and more accepted. Maybe now we’ll get somewhere!

So, what did the article say? Basically, new immune cells that have been discovered in the meninges of the brain, have an effect on social behaviour. Interferon Gamma, is an immune cell that is produced in response to a virus or bacteria. As Fraser has a major problem with Strep bacteria changing his behaviour, this was a massive breakthrough for me which helps to complete more of the big Fraser picture. When they interfered with Interferon Gamma (IFN-gamma) in mice, their social responses completely changed. No IFN-gamma, no social interaction, they were wall flowers standing on their own. Switch IFN-gamma back on, and it was mice party time! For something so seemingly simple, this could have a profound outcome for Autistic individuals and other neurologic disorders. So what next? Well of course that meant going back to Google University (like I ever left). So, I typed in ‘how to raise Interferon Gamma’, and to my delight, something really simple came up. So simple, that I had to laugh out loud. The good old probiotic, beloved of parents of Autistic children the world over…Lactobacillus GG, aka Culterelle. I have never been able to find out if this probiotic lowered or raised histamine, so I have and will continue to assume its neutral. Fraser has always better on Culterelle, and this could well be the mechanism, raising IFN-gamma in the brain! He has only one per day, but considering a new packet arrived at my door on Friday, i’m going to up his dose and see what happens. I won’t be expecting a miracle (not that I would knock one back), but, how can I not give it a go?

It is so reassuring to see articles like this coming up, and to know that behind closed lab doors all over the world, people are working to solve these big puzzles. I am grateful to the scientists, the nutritionists and of course, the little party mice for this invaluable leap forward. Keep up the good work dudes!

Lots of love,

Kitty xx

Is Autism Inevitable?

Over the years, I have had many many conversations with many many people about Autism. Some are wanting information, some are just curious, and mostly people are kind and caring. I have noticed though, that one question gets asked more than others. The question is…’are there more kids with Autism these days or is it just diagnosed better’? And my answer is this ‘there are more kids with Autism these days and it is diagnosed better’. I’m not trying to be wiseacre, but to me, that seems to be the answer! With that said, I do have to add one thing. Yes our diagnostic tools are better these days. There are more tests available, and a whole lot more information than there used to be. Of course there are more diagnostic categories than there used to be. It’s not just Autism anymore, it’s Autism Spectrum Disorder (ASD) and within that spectrum lie a vast number of extreme’s and diagnosis. For example : PDD (Pervasive Development Disorder), SPD (Sensory Processing Disorder), Childhood Disintegrative Disorder (CDD), Rett Syndrome, Aspergers Syndrome and of course Autistic Disorder. So indeed, there are a lot more possibilities for diagnosis, BUT, there are waaaaaaay more children being diagnosed than ever before because there are waaaaaaaay more children affected than ever before. All you have to do to know that this is true is to think back to your own school days. Of course there were always one or two kids in the school that were ‘a bit different’, but now it’s hard to meet anyone who doesn’t know or know of, someone that is affected in some way.

Lets look at the possibility of why. 100 years ago, when statistically there was no Autism, what was different? The short answer is almost everything, but lets at least start with something that affects everybody, everyday…food. This is an obvious place to start when you look at the supermarkets of today. Basically, they had meat, vegetables (mostly locally sourced) a little fruit, grains in the form of bread and porridge, eggs, milk, water and perhaps a little sugar in their tea. Of course any treats such as biscuits and cakes were rare and home made. There may have been, for the average person at least, a little alcohol on the odd occasion. Fast forward to today, and while our diet may resemble the basics, it’s a safe bet that we all have a lot more sugar than just a little in our tea, probably more grains than vegetables from all of the pasta, bread, rice and breakfast cereals that we eat each and every day. Add to that, the hormones and antibiotics feed to the animals that we eat, add to that the grains, especially corn, fed to the animals that were never meant to eat grains. Add to that the bombardment of agricultural sprays on our fruits and vegetables, add to that the gmo’s, add to that the depletion of the soils from over farming, add to that the chemicals such as BPA added to bottled water and canned goods that we eat. Add to that preservatives, food colourings, flavour enhancers, gluten gluten and more gluten! Add to that things you can’t even freaking pronounce!!!

Now lets look at the environment we live in. 100 years ago, the population was much smaller than it is today. They were simpler times when people worked close to where they lived. The transport was much more limited than it is today, with bicycles, horses, trains and of course walking being the major ways of getting around. Fast forward to today and there are MILLIONS of cars clogging up roads everyday. If you live in the suburbs or inner urban areas, you can’t escape the sound of traffic, let alone, the bi-products of the traffic namely, cadmium, lead and carbon monoxide. Then add mercury from industrial fumes as well as countless other nasties, now add endless cleaning chemicals and antibacterial hand washes that contain liver damaging triclosan, add to that, heating and air conditioning, flame retardants on our pj’s and almost every piece of furniture we own and of course the biggest add of them all, electromagnetic radiation from power lines, appliances and wireless technology.

Lets have a quick look at the water we drink now. 100 years ago, it was as basic as it gets, fast forward to today and things have dramatically changed with the addition of fluoride and chlorine in the water, not mention the countless heavy metals and industrial waste that have polluted our water supply. There are so many more things that could be added here, but I think i’ve made my point.

So, what does this have to do with Autism? Well, I think when you look at the changes that have occurred in the last 100 years (and this is only scratching the surface), you have to wonder what effect does this have on the human body??? To answer that question, you really only need to look around and see the epidemics surrounding us. It’s on the news almost every day! Obesity, diabetes, cancer, heart disease, dementia and Alzheimers and of course Autism which now affects 1 in 68 children. In 1975 it was 1 in 5000!!! Growing up in the 70’s I don’t think i’d ever heard of anyone having autism or cancer, now, I know too many people who are suffering from these once rare conditions. It is happening really fast. Our bodies have evolved over 100,000 years. How are they supposed to adapt to this tidal wave of assaults in 100 years!!!! I believe that when industrial chemicals, food additives, petrol fumes etc, made their way into the environment, that our grandparents were affected. How could they not be? I believe that these affects were passed down to their children, who have now passed them onto our children and I will use my own family as an example, as this is why this post has any relevance at all. My grandfather died of bowel cancer and Alzheimers disease. My Mum was diagnosed as a child with Crohns Disease and in the last 10 years has developed Rheumatoid Arthritis, her twin sister in that time has been diagnosed with Lupus. Their older sister developed severe Rheumatoid Arthritis in her 30’s. Her daughter, my cousin, was also diagnosed with RA in her 30’s. My grandmother, my mum and her two sisters have all had thyroid problems. I won’t delve further than that for now, but of course, my interest peaks at my own son who has Autism, Intellectual Disability and PANDAS, which is an Autoimmune condition (Rheumatoid Arthritis, Lupus and Crohns are also autoimmune diseases). I believe the affect of these changes have been profound. I believe that our bodies and brains are the results of the cumulative affect of these changes. I believe that some of us, generationally speaking, have paid a fairly high price for these changes. I believe that while our bodies are truly incredible and are obviously capable of dealing with many things, gene’s have been switched on and off in ways that must differ from those 100 short years ago. (Please see my post ‘You MTHFR’). I believe that with all of this in mind, Autism and other conditions must be an inevitability. There are more than 200 chemicals found in umbilical cord blood. 200!!!!!!!! Babies are compromised in utero. Not necessarily through any fault of the poor mother, but from the environment we are living in. Children with Autism are the canaries in the coal mine.

So what is my point? My point as usual is to make people aware. We need to keep our minds open, we need to understand what we are doing and what future we are contributing to. We need to look further than the brain for answers. We need to look more at the gut and the liver, at what price they have paid and will keep paying. We need to not just look for an ‘Autism Gene’, but look for which genes are effected in a person with Autism. We have come such a long way in our understanding, but I think we have a long long way to go. You may not agree with my theory at all and thats okay. But after researching for ten years, it feels pretty obvious to me. As a parent, it is my responsibility to not only look after my beautiful boy, but to help my daughter have the best possible outcomes when she is old enough to have children of her own. This is my conclusion and it feels pretty logical. Now that you’ve read this you may truly understand why I made the title a question and why i’m off to get a glass of Sauv Blanc. Actually, I might make it a green tea instead 🙂

Take care,

Kitty

You mthfr!

If you looked at the title and thought, ‘Wow! A post about MethyleneTetraHydroFolate Reductase’ then you’d be right! If you looked at the title and thought about something or someone else…actually what else could you have been thinking? We’ll get to the title later.

Have you heard of String Theory? It is a very VERY complicated theory that explains the parts of the universe that are too small to be explained by Einsteins theories of relativity. And when I say small, I mean we need a whole new word for small. The best example i’ve heard, is that if an atom where the size of the solar system, a string would be the size of a TREE! That is mind boggling to say the least. String Theory and particle physics have been controversial for a long time, in no small part because there wasn’t one model of the theory for anyone to agree on! There were in fact 5 different theories to explain strings and the evolution of the universe. It was said at the time, that ‘If one of those theories explains the universe, then which universe’s do the other four explain’. It was not just food for thought but a whole damn smorgasbord! Then one day, a very brilliant man with a soft delicate voice, an unassuming perona, and an enormous brain called Ed Whitten, announces that he had unified the five different string theories into one that he called ‘M Theory’. As a basic example, if I asked you to hold up your pointer finger and describe it, what would you say? Well, for a start, there’s a fingernail at the top that is hard, it has a white bit a the top, a pink part in the middle and a half moon in a lighter shade of pink at the bottom. There a two convex knuckles which are a bit wrinkly (and becoming more wrinkly every day), there is a vein popping out and a mosquito bite and when I bend it, it points away from me. Now, turn that same finger 180 degrees, and describe it. Well, it’s the same colour, but it’s much smoother. At the top there are strange markings that are unique to each finger…on the entire planet! There are horizontal lines that are a darker colour and when it bends, it points towards me. One thing, two different descriptions. Basically, what the incredible Ed did, was to look at the existing theories from a different angle. In doing that, he saw that they were all describing our universe, just at slight different angles. Pretty impressive stuff.

It has been said before, and will be said again, the human body is truly a wonder. The simplicity of the outside of our bodies belies the intricate dance of systems, organs, networks, hormones, amino acids and neurotransmitters that is going on inside. And thats just to name a few. There are armies of workers going to and fro, cleaning house, transmitting information and letting in nutrients, breaking them down to smaller pieces and sending them where they need to go and others that are takin’ out the trash. There are trillions of bacteria living symbiotically in our mouths, and digestive tract producing essential vitamins and compounds that help make up our immune systems, as well as killing off bad bacteria so that we stay strong and healthy. Our amazing bodies are ALWAYS trying to keep themselves in tip top shape despite how it sometimes seems. When we are overwhelmed with symptoms and illness it’s easy to think your body has turned on you, when it is in fact trying to do the opposite. Your body does not just employ single organs to do specific jobs. They are intricately connected in ways you can’t even imagine! One such example is Methylation. It is on an incredible scale of complexity and is happening as you’re sitting reading this, but we’ll get into that later. When you’re doing biomedical interventions for Autism, there are a few standard issues and treatments that almost everyone agrees on. Digestive issues, allergies, a high toxic load of mercury and other metals, and an out of whack zinc/copper ratio are the most common. As it turns out that the vast majority of Autistic individuals suffer from all of these conditions and many treatments are based on or around correcting digestion, removing allergens like gluten and casein, removing toxic metals and balancing zinc and copper. Probiotics are a standard treatment as is fish oil and omega 3 supplementation. Then there are the countless other issues that affect kids on the spectrum. In fact, the symptoms in and of themselves are a spectrum. Each child is so different, and what may affect some won’t affect others. It is a very complex, and multilayered condition, as it is almost impossible to know what issues they would have been dealing with if they didn’t have Autism. But what do you do, and where do you start when your child has a seemingly impossible and seemingly unrelated set of symptoms as long as your arm????? I’ll give you a quick run down of my little man’s rap sheet. Eczema (from one month old), digestive problems (from day one), multiple food and chemical sensitivities, high histamine, low zinc/high copper, low magnesium/high calcium, high cortisol, intermitant fevers, aggression and anxiety. You keep on looking. You research each symptom and deal with them one by one and if you’re like me you do that for many years.

Like those tireless String Theorists looking for solutions to endless questions and problems, carers of Autistic children, or in fact any child that has any type of issue, sometimes you just feel that you reach a dead end. Sometimes the problems seem as though they’ve gotten so big and so exhaustive, that no solution is actually possible! But of course in this magical universe, there is always another avenue to explore. They can dawn on you slowly as you acquire information piece by piece, or they can pop up out of nowhere when you least expect it. And on very rare occasions, they happen simultaneously. MTHFR Avenue popped up on my inner GPS as I was doing yet more research on Histamine. I was looking for what started the high histamine sequence of events and it happened. I had a moment when all of my theories came together. That moment when right before my eyes, on the very computer screen i’m typing this onto, revealed the answer to most of my questions. I had that moment when your whole body comes alive and boundless energy surges through you as this information fills every gap and satiates the previously insatiable hunger for answers. Like ‘Neo’ from ‘The Matrix’, I had an ‘I know Kung Fu’ moment! My head was full of this new information and it all made perfect sense, it was the missing link in this broken chain of symptoms. BBBAAAAMMMMM! I was Ed Whitten!

So, what is this MTHFR? Well, in the words of the little guy from the Curiosity Show, ‘I’m glad you asked’. In your body at this very moment, you are undergoing an incredible process called ‘Methylation’. Methylation is almost as complicated as String Theory to my untrained brain, and I am slowly trying to wrap my head around it. I’ll do what I can to explain it.

Gene’s in our body act like switches, turning processes on and off. The MTHFR gene is responsible for converting Folate (a B vitamin, also known as B9) into methylfolate. The conversion of folate to what is known as 5-methylTHF, is the beginning of the Methylation cycle. The cycle is like cogs turning, and each cog relies on the next for the smooth and proper functioning of itself and each function from there on. The central cog uses the converted folate, and methylcobalamin (B12) to produce SAMe, and reduce Homocysteine. It brings in Methionine, B6 and Cysteine to produce the master antioxidant, Glutathione. This process also sets in motion, on the other side of the cog, yet another cycle called the BH4 cycle, which is responsible for the neurotransmitters Seratonin and Dopamine, by the conversion of the amino acids Tryptophan and Tyrosine. PHEW! When I say I have simplified this process i’m not kidding. Google ‘Methylation Cycle’ images and prepare to be blown away! It is beyond description, and I have not done it justice by any stretch of the imagination. But the point is not the cycle itself, but that one seemingly small thing can trigger such a cascade of symptoms and diseases.

The functions of the methylation cycle include :

Detoxification
Immune function
Maintaining DNA
Energy production
Mood balancing
Controlling inflammation

To put that into perspective, here’s a list of what happens when it’s not working properly

Cardiovascular Disease
Cancer
Diabetes
Adult neurological conditions
Autism and other spectrum disorders
Chronic Fatigue Syndrome
Alzheimer’s disease
Miscarriages, fertility, and problems in pregnancy
Allergies, immune system, and digestive problems
Mood and psychiatric disorders
Aging

It seems that a mutated MTHFR gene is becoming more and more common, as it is passed down from generation to generation. Down’s Syndrome and other genetic diseases are also implicated.

So, what the hell do we do? Thankfully, there is a simple saliva test, which we shall be undertaking shortly, that can test for mutations in the MTHFR gene. The gene can have up to forty mutations and the treatment depends on where the mutation occurs. I don’t know yet if every mutation has a treatment, but believe me, i’m working on finding out. Some treatments however, can be as simple as taking the already converted form of folate called folinic Acid. I have already seen incredible improvements in my own Mum after suggesting she try this form. She takes a drug for her Arthritis called Methotrexate, which actually depletes the body of folate, which then causes Methotrexate toxicity. Her doctor had prescribed folate for her to take, but every week, for 3 days after taking the drug, she was incredibly sick even with the folate. After discovering all of this, I gave her the folinic acid, and her sickness has vanished! It has been quite a remarkable difference, and most certainly points the finger at the likelihood of her having a mutation.

Although it may seem a depressingly long list of issues, I am so excited by the possibilities. It also unfortunately raises quite a few questions which I will address in the next post, regarding folate in our food supply. But for now, let’s rejoice in the wonders of the human body, the incredible discoveries of mankind and the little universes that are our kids.

Kitty. xx