OTTAWA – David Patchell-Evans says he felt powerless as he watched his daughter, Kilee, turn “literally overnight” from a sweet, friendly toddler into a three-year-old who would bite her little sister till she bled, who would wake up every night screaming, and who had suddenly lost all her vocabulary.

”You don’t know what to do – the behaviour is so mystifying,” he said. “It’s like you’re in the middle of a whirlpool and you feel like you’re sinking.”

The doctors diagnosed Kilee with autism, but Patchell-Evans said they couldn’t help her or offer much advice.

After years of “just coping,” Patchell-Evans, the owner of GoodLife Fitness Canada and a self-described “entrepreneur to the core,” started looking for his own answers.

In 2003, a friend introduced him to London, Ont.-based neuroscientist Derrick MacFabe, who had an as-yet untested theory about the cause of autism, which affects one in 90 Canadians.

After repeated unsuccessful attempts at getting funding through traditional government sources, MacFabe was searching for help.

The scientist and the CEO spent an afternoon discussing MacFabe’s theories, and Patchell-Evans’ experience with Kilee.

Patchell-Evans said MacFabe seemed honest about the fact he didn’t have the answers – “but he was asking the right questions.”

After a few hours, the two shook hands, as Patchell-Evans promised to fund MacFabe’s research, on two conditions: the research had to be conducted openly, with as much collaboration with other scientists as possible, and the resulting cure or treatment would be made widely available to anyone who needed it, at a fair price.

Since 2003, Patchell-Evans has given $4 million to the Kilee Patchell-Evans Autism Research Group (KPEARG), and has raised millions more through his friends and contacts in the business world.

Now the partners, and many of their peers, say they’re making leaps and bounds toward figuring out what causes autism, with a funding model that tests conventional thinking on scientific research.

MacFabe’s group – which is based at the University of Western Ontario in London – is getting ready to release more evidence that the overuse of antibiotics, which alters the balance of bacteria in the human gut, could create the conditions for autism in susceptible groups.

MacFabe uses his position at the university to make contact with autism researchers in a variety of specialties all over the world, hoping a collaboration in which all the information is immediately shared will lead to a faster answer to all of their questions – and a faster cure for autism.

Researchers at Harvard, UCLA, Queen’s, and universities in Sweden and Saudi Arabia all contribute their findings to the multi-disciplinary approach MacFabe insists will find the key to this disease.

Laurie Mawlam, executive director of Autism Canada and mother of an autistic child, is convinced.

She said the group is the only recipient of funding from Autism Canada because it is the first research that gives parents real hope that a cure is possible, and it’s the first time she said she feels the scientists are listening.

”It’s really groundbreaking work,” she said.

The National Science and Engineering Research Council of Canada named MacFabe’s university team and its research as one of the top 50 scientific discoveries in Canada in 2007, and he and his colleagues have published their work in peer-reviewed scientific publications such as Behavioural Brain Research, American Journal of Biochemistry and Biotechnology, and Neuropharmacology.

In a research field dominated by geneticists, MacFabe said he started wondering how autism affects the body and how the environment affects the disease.

”A key cornerstone of medicine is the history; listening to people, hearing their stories and then trying to figure out how it all connects to the disease,” he said. “Many of the parents of my patients felt they weren’t being listened to by their physicians.”

He said he heard about kids such as Kilee, who craved carbohydrates and sweets, whose behaviour changed seemingly with the wind, who couldn’t sleep through the night and who sat on the toilet for hours in severe pain.

A full 70 per cent of autistic children have severe gastrointestinal problems, such as bloating, abdominal pain, constipation and diarrhea, compared with only 28 per cent of typically developing children.

Although, like Kilee, many children lacked communication skills, many parents said gut pain came around the same time as their behaviour got worse. Some clinicians connected these behavioural changes to certain types of foods, particularly wheat or dairy products.

Parents’ groups such as the Autism Network for Dietary Intervention have been saying since 1995 that the disease is linked to diet. Many homeopathic doctors prescribe strict diets – limiting carbs, dairy, gluten and casein – to their patients with autism.

”It’s not rocket science,” said Patchell-Evans, “we know without scientific proof that what we eat makes us what we are.”

After meeting MacFabe in 2003, he cut sugar, potatoes, pasta, gluten, rice, carbohydrates and chemicals out of Kilee’s diet. “I thought I was depriving her of going to the corner store for a bag of chips, but I’m really giving her a clear mind and a clear gut,” he said.

”Now she’s got 100 to 150 words in her vocabulary. . . now she can go to a restaurant (after her dad calls ahead to make sure the kitchen staff can accommodate her needs), she can play with her sister without pulling her hair,” he said of Kilee, who is now 15.

MacFabe knew it wasn’t enough to observe that dietary changes seemed to help some people, because it didn’t make any difference with others.

He needed to figure out why.

Most autism researchers – who are by and large geneticists – have traditionally taken the approach that those with autism have a genetic predisposition to get the disease. MacFabe said some patients do show genetic defects – and those should be studied – but he said that number is very small compared to the total number with autism.

”Although, as in most diseases, an initial genetic approach is essential, the answer to this disease will only come from a multi-disciplinary approach,” he said.

The other reason MacFabe said the cause can’t be solely genetic is the sheer number of kids with autism today compared with 60 years ago.

In the 1950s, one person in 10,000 was on the autism spectrum. Today it’s one in 90, and a recent Korean study has found 1 in 38.

”Genetics can’t change that fast,” said MacFabe, “but environmental factors, and the genetics of your gut bacteria can.”

Our bodies contain 10 times more bacteria than human cells. “Think of our bodies as a rainforest,” said MacFabe. “The bacterial populations in our guts – like a rainforest ecosystem – are incredibly complex with multiple interactions with each other and us,” he said.

There’s mounting evidence that bacterial growth in our bodies during the first 18 months of life plays an enormous role in our protection from and susceptibility to many diseases, including severe infections, diabetes, obesity, autoimmune, gastrointestinal and cardiovascular diseases.

A number of emerging studies have found that antibiotic use within the first two years of life may alter the balance of gut bacteria in the digestive ecosystem.

”It’s kind of like clear-cutting,” he said.

By their very nature, antibiotics kill bugs that make us sick. The problem is that we need some bacteria in our gut to stay healthy, and many antibiotics don’t discriminate between “good bugs” and “bad bugs.” Research is finding that when things get out of balance and the normal bacteria level is disturbed, you can get an overgrowth of bad bugs.

”It’s not as simple as ‘if we eliminate antibiotics, no one will get autism,'” said MacFabe, who stressed antibiotics are an essential tool for fighting infections and should continue to be used when necessary.

However, as with any new technology, the long-term effects of antibiotics are not yet known, and deserve more research, he said.

Dr. Sidney Finegold of UCLA was the first person to link autism to specific types of gut bacteria that may occur with overuse of antibiotics. As it stands, the main known environmental risk factor for autism is pre/post-natal infections, hospitalization and antibiotic use – in other words, doctors gave the mother antibiotics while she was pregnant or nursing, the child spent considerable time in the hospital, or the baby was given antibiotics to treat infection.

The fragile ecosystem of the gut, Finegold’s connection between antibiotic use and the incidence of autism, and the stories from parents saying their children’s behaviour changed when they stopped eating carbs and sugar got MacFabe thinking.

He theorized that when kids with autism eat carbs and sugars, the “bad bugs” in their gut produce a fatty acid waste product called propionic acid. The problem is not the short chain fatty acids themselves – all healthy guts produce those too, said MacFabe. The problem comes when some members of the population whose guts don’t have enough “good bugs,” or whose guts cannot break down these acids. He said when higher levels of propionic acid get into the bloodstream, it goes to the brain, and may contribute to the autistic symptoms.

In a number of experiments, his team used normal rats to test the hypothesis. They injected propionic acid into the rats’ brains and observed that they became hyperactive, ignored other rats, fixated on objects, had intermittent seizures, and exhibited repetitive behaviour. They also showed brain inflammatory and biochemical changes similar to those observed in autistic patients. When the propionic acid wore off, being broken down by normal fat metabolism, their behaviour returned to normal.

”Although there’s much more work to be done, we’ve certainly shown that these gut bugs produce very peculiar, very unique, reversible brain and behavioural changes that look like what is found in many children with autism,” said MacFabe.

When they began their collaboration almost eight years ago, Patchell-Evans thought they’d have a cure in two years.

”That’s just not the way these things work,” he said. “In a way, I don’t have the result that I wanted, but I’ve got more results that I could have ever dreamed of – I have a kid that smiles at me now that used to bite me.”

 Please click here to watch a video of Dr. MacFabe.