Have you ever hit your fingers and, agonizing, did you think what it would be if you could not feel the pain? Well, take care of what you want, because you might find yourself in the situation of the Marsili family members.
The strange case of this family proves that feeling pain is, in fact, a blessing.
52-year-old Letizia Marsili has realized since childhood that she is different from the others.No matter what happened – whether it was burns or limb fractures – Letizia did not feel the pain.
But the woman is not alone in the family who is immune to pain. The mother of Letizia, her two sons, but also her sisters and niece, are also affected by the same syndrome – baptized Marsili syndrome.
Although some would call it a blessing, Marsili syndrome is extremely dangerous. Often, those in the family have suffered fractures that they have not even realized and who have been inflamed or healed badly. Still without realizing, they suffer from burns and various accidents.
Letizia tells her that her son, Ludovico, is often injured while playing football. Over time, all these unresolved injuries have come up with big problems.
“After falling, he stands up immediately. However, it has fragile ankles and often suffers sprains and micro fractures. Recent radiographs showed that my son had multiple micro-fractures on both ankles, “says Letizia.
Bernardo, the other son of the family, went bicycle 14 kilometers after he broke his hand and did not realize it. Letizia fractured her shoulder at the skiing, but did not realize it until the next day, when her fingers began to tingle.
The mother of Letizia, Maria Domenica, has suffered numerous fractures throughout her life. Untreated, they were healed incorrectly. Also, Maria Domenica is already famous for the burns she causes inadvertently.
The situation of Marsili family members is even more alarming because they risk not detecting their illnesses in time. As pain is a symptom in many affections, Letizia and its relatives have less chance of detecting their affections.
Scientists know very little about this mysterious syndrome, which suffers only a few people across the planet. So, solving the enigma lies in genetics and, more precisely, in the genes of the Marsili family.
This is how the family members came to study for researchers. Following genetic tests, scientists have discovered an important mutation in the ZFHX2 gene.
Suspecting that this could be the case, the researchers obtained a generation of mice with the same mutation. They found that the rodents showed the same heat insensibility as the members of the Marsili family.
Of course, physicians can not “fix” these genes through an emergency procedure.However, understanding this mechanism could be an important advance for medicine.
Author of the study on the Marsili family, Dr. Abdella Habib, said these findings could pave the way for new treatments.
“We hope that our findings and future research projects will help find better treatments for millions of people around the world who suffer from chronic pain and that existing drugs do not help,” said the doctor.