The first time I heard the word "autistic" I was 10 years old, and my mom mentioned to me that someone had an autistic child at home. I was confused because I heard the word "autistic" as "artistic".
In April 2001, my first child, Isaiah, was born. When he was 11 months old, his mom, Ranil, became concerned that he was autistic. But I didn't notice any obvious problems, even though he didn't respond to his name, was obsessed with spinning objects, wouldn't play nicely with toys, and couldn't speak. Isaiah didn't walk until he was a year and a half, and had terrible gastrointestinal issues that required medication to control chronic diarrhea and acid reflux. At 19 months old, Isaiah was diagnosed with autism.
When the doctor made the diagnosis, I had my fingers crossed and hoped that the worst that could happen was that he just had autistic tendencies; but the diagnosis of severe autism shocked me. The doctor told us that Isaiah would probably have to be placed in a care facility, and that there were no proven treatments for autism other than Applied Behavioral Analysis (ABA) therapy.
Although we began ABA therapy immediately, there was still a glimmer of hope: because on the day of the diagnosis, when we were told that Isaiah would probably never speak, and that he might not even be able to learn the sounds of animals, he picked up a toy pig and said, "Hmph, hmph."
By this time my wife was pregnant again with our second son, Joshua, and after Joshua was born in early 2003, we watched him closely. When he was 5 months old, we took him for a 2-hour pediatric exam and the doctor declared that Joshua was developing perfectly normally.
Unfortunately, after 3 weeks Joshua began to exhibit autistic like behaviors. At first we thought he was just mimicking his brother, but it soon became clear that he really was autistic - despite all of our "autism avoidance" efforts, including consistent breastfeeding and no vaccinations.
Ranil and I began to look for various treatments for autism. She talked to other parents of autistic children and learned that nutritional supplements and dietary restrictions had helped their children. I was working at a medical school at the time, so I ran to a pediatrician who treats autism and asked about supplements, diets, and other treatments for autism. I was told that there was no research to show that a gluten-free, casein-free diet was effective, and there was no research to support that nutritional supplements could treat autism. That was in 2004.
As a physician, I was educated in evidence-based medicine, so I am used to critically examining the evidence for clinical treatments. I remember doing an extensive literature survey during my residency on how to treat high cholesterol, prevent heart disease, and treat high blood pressure. Because my doctor told me there were no effective treatments for autism, I didn't consider anything other than ABA at the time. Although Ranil tried to seek treatment from other parents of patients, I was convinced that those were "Dr. Mongolia treatments".
Strangely, for some reason, I didn't look up the literature to see if any of the treatments had been proven. I thought that the only thing I could do was to work hard and earn money to be able to afford the "Mongolian doctor's treatments" that my wife wanted to do. These "treatments" seemed harmless enough, so I didn't think it was a big deal to try them.
Around that time, we took Isaiah to a gastroenterologist to determine the cause of his chronic diarrhea. I remember thinking it was a little strange when the doctor told me that this diarrhea he was having was nothing more than a complication of autism and that he didn't need to have any tests done. I also distinctly remember asking him if he should have a stool test to look for the source of the infection, and he and I said it wasn't necessary. I took the doctor's advice because he was an expert in the field. It wasn't until a few years later that I realized that gastrointestinal abnormalities were common in children with autism and that there was medical literature on the subject published as early as 2003.
Back in 2004, Ranil was planning to go to a conference organized by the Autism Research Institute (ARI). At first I was reluctant to go, but then I decided to go and hear about their "Dr. Mongrel's Cure". I remember being shocked because it seemed that some of the "Dr. Mongolia treatments" were actually working. I heard several speakers talk about a gluten-free, casein-free diet, as well as certain nutritional supplements. Immediately after the conference, I went to the university library and used PubMed to search the research literature on these treatments.
I found a number of studies on the adverse effects that certain foods can have on children with autism, as well as multiple studies on treatments on gluten-free casein-free diets. While none of these studies are very rigorous, the point is that I had previously believed that they didn't exist!
It was then that I realized I needed to review the medical literature myself. I found quite a few studies in the medical literature on treatments for children with autism, including Vitamin C, Vitamin B6 and Magnesium, Melatonin, Vitamin A, Tryptophan, Digestive Enzymes, L-Creatinine, Galantamine, Fish Oil, and more.
In retrospect, at that time I had encountered a child with autism in the clinic who had severe self-injurious behaviors and was heavily scarred. At the time, I hadn't realized that there were actually 25 published studies in the literature on oral naltrexone naltrexone improving autistic behaviors, including self-injurious behaviors and aggression, so I was unable to help this child.
At this point, Ranil was using some "Dr. Mongolia therapy" with the children, and we did see some improvement, so when she became interested in Hyperbaric Oxygen Therapy (HBOT), I reluctantly agreed to purchase an HBOT unit, albeit very reluctantly.
I remember one day Isaiah wanted to go upstairs after about 20 hours of HBOT in his room; and we had a door that prevented him from going up the stairs. I was lying on the couch at the time, and he came up to me and said, "Please open the door." I almost fell off the couch! Because he could never say more than one word at a time!
When we wanted to follow up on this treatment to see if it would actually help, I searched PubMed because I was sure someone should have already done the research. But to my surprise, there was no literature on such a study. I decided to take matters into my own hands, so there were three clinical studies, including a double-blind controlled study. These studies found that HBOT improved biochemical markers and certain autistic behaviors in some children with autism.
Then I began to systematically research the autism treatment literature. For example, while some doctors say there is no evidence that nutritional supplements can help children with autism, my research and that conducted with Richard Frye, M.D., of Arkansas Children's Hospital, showed that there are 18 studies showing that melatonin is perhaps the best supplement currently available for the treatment of autism. I investigated a variety of autism treatments, including supplements, dietary changes, and medications, and ranked the evidence for them.
I also began to realize that doctors only diagnose autism by observing a patient's behavior, and that this diagnosis does not explain why a child has autism. I began to understand that all of these autism treatments I was working on were addressing the possible pathology and physiology underlying autism. In this sense, these approaches are not treating autism itself, but rather treating these underlying physiologic problems that may lead to autism. For example, some autistic children with gastrointestinal disorders may become aggressive and hurt themselves and others. If this is not understood, then their displays may be misinterpreted as simple autistic behaviors rather than behaviors caused by severe gastrointestinal distress. Another example is that the aggressive and self-stimulating behavior of some autistic children may be related to epilepsy.
I came to believe that autistic behaviors could result if the metabolic process was disturbed in some way. One metabolic disorder that fascinated me was cranial folate deficiency, which causes reversible autism. Craniofolate deficiency is a neurometabolic syndrome characterized by low levels of 5-methyltetrahydrofolate in the brain, despite normal systemic folate levels. A common cause of craniosynostosis is an autoantibody that binds to the folate receptor, disabling it and preventing 5-methyltetrahydrofolate from being transported from the blood to the central nervous system. Interestingly, milk contains a folate receptor antigen that is 91% similar to the human folate receptor. This autoantibody cross-reacts with the folate receptor antigen in milk, increasing the concentration of autoantibodies and contributing to the exacerbation of cranial folate deficiency. Milk fasting reduced autoantibody concentrations and ameliorated symptoms of cranial folate deficiency. This could explain why some parents report improvements in their autistic children on a dairy-free diet. It is worth noting that some cases of cranial folate deficiency are due to mitochondrial disease. To date, three other studies have reported an association between cranial folate deficiency and Rett syndrome. Cranial folate deficiency has been associated with autism in some children, and five studies have reported the presence of folate receptor autoantibodies in children with autism, some of whom also had cranial folate deficiency. In a recent study, Dr. Frye and I studied 93 children with ASD and found that 75.3% were serum autoantibody positive, suggesting a concomitant of autism and cranial folate deficiency. We also found that oral folinic acid resulted in improvements including communication, social interaction, attention and stereotypic behavior, and even cases of complete neurological and autistic recovery.
My research interests are now focused on metabolic disorders and other issues that may contribute to autism symptoms and are treatable, including mitochondrial dysfunction, inflammation, oxidative stress, environmental toxic exposures, and epilepsy. The amount of information that has become available about autism since my children were diagnosed, and the fact that more and more autism research is being published every day, and that there are even studies reporting full "recovery" in some children, gives me great hope for the future of autism.