Meet The Family Whose Genetic Mutation Is So Rare It’s Named After Them

The world is full of all things unique and exquisite. While on one hand there is life blossoming in its finest forms, there are also many dreaded diseases that have intrigued scientists and researchers from all across the globe. This story involves an Italian family that is the only group of people in the world who suffer from this unusual genetic mutation known as the Marsili Syndrome. Deriving its name inspiration from the family itself, Marsili Syndrome is characterized by extremely low sensitivity to bone fractures, capsaicin, and extremes of temperature.

A family of six, the Marsili’s include a grandmother, her two daughters and their three children that are largely insensitive to any form of pain! As one of the daughters, Letizia puts it, “From day to day we live a very normal life, perhaps better than the rest of the population, because we very rarely get unwell and we hardly feel any pain. However, in truth, we do feel pain, the perception of pain, but this only lasts for a few seconds.” While one might find such ‘painless’ life quite intriguing, the mutations can at times prove to be quite problematic for the family. The Marsilis often suffer bone fractures that cannot be detected. As such due to the lack of timely treatment, the fractured bone may suffer repeated stress and injuries. Research indicates that the entire family possesses a mutation in the ZFHX2 gene that hampers the correct functioning of the pain-sensing nerves in their body. Intriguing isn’t it!?

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