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Not feeling pain has its downside; Marsili Pain Syndrome

According to a recent report by the BBC, Letizia Marsili and five other members of her family rarely feel pain due to their high threshold for pain, making them the only family in the world with such peculiarity.

Letizia, 52, relates her family’s insensitivity to pain, a Syndrome which has been named after her family – Marsili Syndrome.

“From day to day we live a normal life perhaps better than the rest of the population, because we rarely do feel any pain. However, in truth, we do feel pain; the perception of pain, but this only lasts for a few seconds”.

This condition is believed by Scientists to be a result of some nerves not reacting well.

Researchers are optimistic that the discovery of a gene mutation in the family could help in managing chronic-pain sufferers in the future.

Professor Anna Maria Aloisi from the University Of Siena, Italy, said this has opened up a whole new route to drug discovery for pain relief.

The family’s challenges

With a mother, two sons, sister and niece affected by this syndrome, the family suffers a lot of fractures, burns and other injuries undetected, until it becomes complicated.

Letizia’s 24-year-old son, Ludovico while playing football has had some complications.

“He rarely stays on the ground, even when he is knocked down. However, he has fragility at the ankles and he often suffers distortions, which are micro fractures. In fact, recently x-ray have shown that he has lots of micro fractures in both ankles”.

Her younger son, Bernardo who is 21, had a calcification of the elbow without even realizing he had broken it from falling off his bike.

Letizia said she fractured her right shoulder while skiing but continued to ski all afternoon. She only discovered the fracture when she visited the hospital the next morning with complaints of tingling fingers.

She had also broken a bone in her elbow while playing tennis “because of lack of pain, it got so stressed that it ended up breaking”. Her worst problem is with her mouth due to a tooth implant that went wrong.

Letizia’s mother; Maria Domenica,78, and sister; Maria Elena have had their share of undetected injuries, with her sister always damaging the roof of her mouth due to recurrent burns from hot drinks. Elena’s daughter, Virginia once left her hand in ice for about 20 minutes because she doesn’t feel pain.

Responding to the cause, Dr. James Cox, who is the Lead study author from University College London, said although the family members have complete nerves, but are not functioning normally.

“We are working to gain a better understanding of exactly why they don’t feel much pain, to see if that could help us find new pain relief treatments”.

During the study, researchers found a mutation in the ZFHX2 gene, after mapping out the protein-coding genes in each family member.

It was discovered that two mice bred without this gene had an altered pain threshold. Breeding a new line of mice with the relevant mutation showed that these mice as significantly insensitive to high temperatures.

Prof. Aloisi expressed enthusiasm that drugs could be developed to effectively tackle chronic pain, with more research on the impact of this mutation on pain sensitivity.

Nonetheless, Letizia says she has never seen the condition “as a negative”, I beg to defer ma’am.

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