I have been a practicing pediatrician for over 20 years. I saw my first child with autism in the early 90’s – before that I had never seen an autistic child, and I never saw an autistic child in all my years at school. The boy was 4 years old and you could see the frustration in his face as he wanted to speak but nothing intelligible would come from his mouth except shrieks of anguish.
As I studied his tortured face, it was as if there was an old time telephone switchboard operator inside his head trying to plug in the correct phone cables but not being able to complete the call. This family had known me from an old practice I worked at in another city, but they had traveled to see me because they trusted me and were looking for answers that no one seemed to have for them, but I too had no answers and I could see the mom was greatly disappointed. After the family left my office I poured over a few dusty textbooks and wondered if I had just seen a very rare disorder, a disorder that affected one child in 10,000 children…autism.
I had been involved in pediatrics for a decade by the time I saw this boy and it wasn’t as if I had no experience working with rare disorders. I had been able to identify a boy with Fragile-X syndrome and his mom ending up starting the Fragile-X support group at Children’s Hospital in Los Angeles.
I had noticed there was a strange upswing in children with attention disorders and impulsivity problems. I wasn’t a neurologist, but had studied with one of the finest at UCLA. While I was still a pediatric resident I spent time in his office where he helped me study the parade of unusual maladies that was starting to afflict children. I considered myself a closet neurologist, because that was what I had really wanted to specialize in – not pediatrics, but during my neurology rotation in medical school I learned some discouraging news. The attending neurologist, whom I greatly admired, had taken me on rounds for the first time and I watched him brilliantly explain to the family of a stroke patient how he had figured out where in the brain the blood clot had lodged. Then he stood up and walked out of the room and I asked him what therapy he was going to prescribe for the patient so he could recover from his stroke, “therapy?” he said, “there is no therapy.”
Well, I scratched neurology off my list…diagnosis was only meaningful if you could offer a treatment and it seemed neurology had few treatments to offer.
My second patient with autism came to me in the mid 1990’s, but to my relief the purpose of the visit was only to treat worms. I dutifully prescribed the medicine for pinworms and went on to my next patient. Later that afternoon I received a call from the autistic boy’s mom who wanted to know what was that medicine I had given her son for pinworms….her boy was starting to make eye contact, show affection and communicate with his family. She said it was amazing! I told her I didn’t really didn’t know what was in the pinworm pill but immediately prescribed enough pills for her son to take everyday for a month (normally you only take one or two pills to treat pinworms).
I called up the pharmaceutical company that manufactured the pinworm pill and spoke to one of their technical staff. They told me the pill worked by blocking the transport of molecules of a certain size from crossing cell membranes, so in the case of the hapless pinworms they were unable to absorb the sugars they feed upon in the lower intestines of their victims.
What did that have to do with this boy’s newly found improved behavior? Either one of two things were going on: 1) the drug was either blocking a molecule that shouldn’t be passing across the gut to the blood and then the brain and that molecule was having a drug-like affect on the brain, or; 2) the drug was blocking a molecule that normally crossed from the gut into the blood but in certain children these molecules had a strange drug-like affect.
I made several calls across the country to find a researcher who might be interested in this serendipitous finding which could be an important clue into this disease, because no where had I found anything saying that the guts of these children were involved in their disease. Unfortunately, no one I talked to was interested.