Pia Nasu, the story of the stone girl who defied science

Pia Nasu, the story of the stone girl who defied science

The story of little Pia Nasu, known as the “Stone Girl”, is one of those stories that shock us and make us think about the fragility of human life. Pia was born in 2010 and at the age of seven months she was taken to the Regina Margherita Children’s Hospital in Turin, because she suffered a broken wrist while bathing. What the doctors discovered was something much more dangerous and insidious.

Figure 1 Research into rare diseases has a new ally: the discovery that solved the Bia Nassau case, the story of the stone girl.

A Wrong Gene Condemned Her to Become a Statue: The Touching Story of Bea Naso, The Story of the Stone Girl

Pia suffered from a rare genetic disease that prevented her from moving and gradually turned her into a kind of living cage. Her neck, her limbs, her fingers, and her whole body were stiff and calcified, until she was practically unable to move. No specialist in the world had ever seen a condition like his, and there was no known cure for this disease.

The diagnosis was shocking for Bea and her family. But rather than give in to despair, her mother foundedBia’s friends in the worldThis is a non-profit organization that aims to promote research into rare diseases. It was a way to make sure Bea’s life was not in vain and to help other families who find themselves in the same situation.

Bea passed away at the age of 8, a few months after her nonprofit organization was born. But thirteen years after his first visit to the hospital, science has finally succeeded in determining the cause of his rare and unique disease in the world. A specific gene overproduces a protein in cartilage, causing bone to form where it shouldn’t be. This discovery was published in the prestigious scientific journal Nature Communications.

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This story teaches us many things. It teaches us the strength and determination of a mother who never stopped searching for answers for her daughter. It teaches us the grief and anguish of illness that leaves us hopeless. And it teaches us that scientific research, despite its difficulties and uncertainties, can make a difference. It can also give hope to those suffering from rare diseases.

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