What's Rett Syndrome?

mutation on an x-chromosome

In the year 1960 in Vienna, Austria, a little 100-bed clinic founded by pediatric specialist and physician Dr. Andreas Rett struggled to keep its doors open ever since its establishment a few years earlier. Its adversary was simply prejudice, but despite the disapproval of his peers, Dr. Rett accepted into his small practice all the children in Vienna with intellectual disabilities. He was the only one in the city who did, and families from all over the city came to him to have their children treated by a medical professional.

Two such families sat in his waiting room one day, two mothers with their small daughters. Dr. Rett observed both girls in the waiting room, sitting on their mothers’ laps and wringing their hands. Upon separate examination of both girls, he discovered they had similar stories.

Both girls had begun their lives developing typically, only to regress rapidly as toddlers, losing control of their hands until the characteristic hand-wringing Rett had observed became a constant compulsion. After becoming aware of these two girls, Rett observed the same progression of symptoms in four additional female patients in his practice. Convinced he had discovered a new syndrome, Rett took meticulous notes, made films documenting the girls’ symptoms, and published his findings in several under-read medical journals.

Dr. Andreas Rett

Universally ignored by his contemporaries, little d