April was Autism Awareness Month. As a neurogeneticist who works in the field, I believe anything that raises general awareness of what we know about autism — and as importantly, what we don’t — is useful, and potentially much more than that. On a more pragmatic level, I hope that this will lead to increased opportunities for funding and willingness among families to participate in research.
Like many colleagues now in the field, I didn’t set out to work on autism. Twenty years ago, I was a PhD student in a biology department. Students interested in neuroscience generally did research in experimentally tractable model systems such as the nematode worm C. elegans.
As an aspiring geneticist and experimentalist, I wanted no part of the limitations of human research. The complete human genome sequence was still a decade away, and the application of standard genetic models to human disease was just reaching “critical mass” in identification of monogenic disease genes. Neuropsychiatric disorders were poorly understood, diagnostic criteria were changing, and the few published papers on autism genetics were mainly theoretical and expressed widely varying viewpoints.
I became aware of autism 10 years ago. My 3-year-old son’s speech was atypical; he showed striking deficits in expressive language. He had difficulty interacting with other children his age. Grandparents and friends offered their opinions, collectively amounting to “don’t worry, he’ll grow out of it.”
Lacking experience and any known family history, I did not worry all that much. My 1-year-old daughter was developing normally, and we had recently moved from an apartment to a ‘fixer-upper’ house to accommodate our growing family, leaving little time to reflect on what might be going on with my son.
Ultimately it took the polite but unwavering urging of the director of the day care center in which my son was enrolled to convince us to seek expert advice. When the diagnosis ultimately came, it was devastating.
Pointing Blame and Finding Reason
The research career in plant genetics in which I’d invested the better part of 15 years fell apart rapidly — it didn’t seem to matter anymore. Sleep became a rare commodity. I developed shingles. Nights were dominated by endless Internet queries. My marriage came under great stress, as my wife and I came to terms with our changing lives and what to do next. And we faced another serious challenge: another pregnancy in mid-term, with another son on the way. Could we afford to have another child? What if he also turned out to be autistic?
We scrutinized our lives to determine possible contributions to autism. I remembered anecdotes from my son’s earlier childhood: a febrile seizure when he’d had a high fever; episodes of hand flapping and toe walking; falling off the sofa once and hitting his head. He’d been unable to sleep without first spending half an hour in a rocking swing when younger. He suffered from moderate but seemingly endless episodes of constipation. He was sensitive to certain loud noises, and didn’t like to make eye contact. He was a picky eater who didn’t like food with certain textures.
This article originally appeared on Neurology Advisor