I got a letter the other day at the office, from the mother of a teenage girl who I saw many years ago. She was writing to thank me; her once-disabled daughter had made some incredible progress and was now on track to go to Harvard. She was also writing to ask if I would consent to be interviewed for a book her daughter was writing. I responded immediately accepting the invitation. I was not only willing to be interviewed by this inspiring young woman; I was excited by the prospect.
I had first met her (let's call her Sam) about fourteen years ago, when she was three years old. Though she’d developed normally until age two, by three she was nonverbal and still in diapers, with chronic diarrhea. She’d started missing milestones (including the ability to communicate through speech), had completely withdrawn socially, and had an extremely difficult time shifting from one activity to another. It was the classic onset of autism.
Before I met her, Sam had already been seen at two major autism centers and had been diagnosed with autism spectrum disorder (ASD). This family found me the same way most of my patients find me: through a previous patient. Not having found help elsewhere, they were desperate for a solution.
When I entered the exam room, Sam was bouncing off the walls. We have a special room in our office designed for families dealing with ASD; it’s empty with the exception of an exam table and a small computer secured to the wall, and all of the electrical outlets are covered. Children with ASD, when taken out of their normal routine, often become extremely anxious and have a very difficult time, so we've tried to create a room that is as bland as possible.
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In my first visits with Sam and her family, we created a timeline for Sam, outlining all the major events in her life so far and pinpointing when she first lost wellness. We then applied the timeline to the functional medicine matrix. (These tools, used to help us uncover root causes of disease, are described in my book, Just Be Well.)
From there, we teased apart how those symptoms might be related to specific biochemical processes. That led to specific functional-medicine testing, through which we learned that Sam had several challenges. She had difficulty processing casein, found in dairy, and gluten, found in many grains. She had an abnormality in a detoxification pathway called the metallothionein pathway, which helps detoxify metals. She had significant abnormalities in the metabolism of the vitamins, antioxidants, and certain minerals. She also had predominately long-chain omega-6 fatty acids, which tend to be pro-inflammatory, and was very deficient in omega-3 fatty acids, which tend to be anti-inflammatory. And finally, an organic acid profile revealed that she had abnormalities in the Krebs cycle—a pathway that converts her food into energy.
With a clear outline of the problems, our task was to rebalance these various abnormalities. We started in the gut, where we tried to manage her chronic diarrhea and her various nutritional imbalances and food sensitivities. We then dealt with her various toxicities, using a holistic approach that included close attention to Sam’s diet, lifestyle, and overall well-being.
Slowly but surely, over the course of weeks, months, and years, we saw a series of small improvements. Sam’s recovery was not an overnight success or a miracle cure. It was a set of successive improvements that occurred each time we made an intervention. But in the end, it did all add up to a quite amazing result: Sam, Harvard-bound and working on her book, is leading a normal, fulfilling life.