The Italian family that named a rare genetic syndrome

The Marsilis are a normal Italian family: a senior mother with two daughters—each with her own family. But they have something that sets them apart from other people: a rare, truly unique syndrome.

What happens is that the six family members practically feel no pain: the matriarch, Maria Domenica, 78 years old; the daughters, Letizia and Maria, and also their children, Virginia, Ludovico and Bernardo.

According to Letizia Marsili, since childhood she noticed that she had a high resistance to pain, and friends called her “super woman”. She says that her family has several cases of people who broke bones without even suffering. That’s what happened to your mother, in old age.

Letizia herself sprained her ankle during the holidays, but for the next 2 weeks she didn’t complain about anything. His son, Bernardo, on one occasion fell off his bike: he broke an arm and didn’t even realize it. The injury was detected when the bones began to “glue” together again. Letizia’s sister, Maria, burned herself several times with hot drinks without realizing it, and her niece, Virginia, once had hypothermia in her arm, but did not realize it until some time later.

“To be honest, we felt pain, but only for a few seconds,” says the woman.

Letizia, her niece Virginia and her sister Maria

Researchers were very interested in the subject: after several investigations they managed to find the mutation in the ZFHX2 gene. James Cox of University College London said that the nervous systems of members of this family are not exactly like everyone else’s. “If we find the cause of the absence of pain, it is likely that we can develop a new generation painkiller,” says Cox.

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The young generation of the Marsili family: boys and girls also have the rare syndrome

Meanwhile, experts have christened the new genetic mutation that makes a person less sensitive to heat, cold and pain in case of fractures: the condition has been called Marsili syndrome, after the family’s unique surname.

In other respects, the Marsili family is like any other. “Now that we know everything about our syndrome, we treat ourselves with more care and attention. And if it were possible to give up this quirk of mine, I wouldn’t. After all, what if one day the studies lead to a discovery that boosts science and helps people?”, says Letizia.