Read The Laws of Medicine for Free Online

experimental situations develop maladaptive,repetitive behaviors—and so, children with such parents might also develop these symptoms. By the early 1970s, this theory had hardened into the “refrigerator mom” hypothesis. Refrigerator moms, unable to thaw their own selves, had created icy, withdrawn, socially awkward children, resulting ultimately in autism.
    The refrigerator mom theory caught the imagination of psychiatry—could there be a more potent mix than sexism and a mysterious illness?—and unleashed a torrent of therapies for autism. Children with autism were treated with electrical shocks, with “attachment therapies,” with hallucinogenic drugs to “warm” them to the world, with behavioral counseling to correct their maladapted parenting. One psychiatrist proposed a radical “parent-ectomy”—akin to a surgical mastectomy for breast cancer, except here the diseased parent was to be excised from the child’s life.
    Yet, the family history of autism would not fit the model. It was hard to imagine emotional refrigeration, whatever that was, running through multiple generations; no one had documented such an effect. Nor was it simple to explain away the striking incidence of autism in children of older male parents.
    We now know that autism has little to with “refrigerator moms.” When geneticists examined the risk of autism between identical twins, they found a striking rate of concordance—between 50 and 80 percent in most studies—strongly suggesting a genetic cause of the illness. In 2012, biologists began to analyze the genomes of children with so-called spontaneous autism. In these cases, the siblings and parents of the child donot have the disease, but a child develops it—allowing biologists to compare and contrast the genome of a child with that of his or her parents. These gene-sequencing studies uncovered dozens of genes that differed between parents without autism and children with autism, again strongly suggesting a genetic cause. Many of the mutations cluster around genes that have to do with the brain and neural development. Many of them result in altered neurodevelopmental anatomies—brain circuits that seem abnormally organized.
    In retrospect, we now know that the behavior of the mothers of autistic children was not the cause of autism; it was the effect—an emotional response to a child who produces virtually no emotional response. There are, in short, no refrigerator moms. There are only neurodevelopmental pathways that, lacking appropriate signals and molecules, have gone cold.
    ....

The moral and medical lessons from this story are even more relevant today. Medicine is in the midst of a vast reorganization of fundamental principles. Most of our models of illness are hybrid models; past knowledge is mishmashed with present knowledge. These hybrid models produce the illusion of a systematic understanding of a disease—but the understanding is, in fact, incomplete. Everything seems to work spectacularly, until one planet begins to move backward on the horizon. We have invented many rules to understand normalcy—but we still lack a deeper, more unified understanding of physiology and pathology.
    This is true for even for the most common and extensively studied diseases—cancer, heart disease, and diabetes. If cancer is a disease in which genes that control cell division are mutated, thus causing unbridled cellular growth, then why do the most exquisitely targeted inhibitors of cell division fail to cure most cancers? If type 2 diabetes results from the insensitivity of tissues to insulin signaling, then why does adding extra insulin reverse many, but not all, features of the disease? Why do certain autoimmune diseases cluster together in some people, while others have only one variant? Why do patients with some neurological diseases, such as Parkinson’s disease, have a reduced risk of cancer? These