Title: Identical Twin Sisters with Rare Genetic Disease Puzzles Medical Experts
Subtitle: Doctors struggle to understand why one girl is severely affected while the other is relatively healthy
Date: [Insert Date]
In a rare and intriguing case, identical twin sisters from Portosin, northwestern Spain, are challenging medical experts by exhibiting starkly different symptoms despite sharing the same genetic mutation. Cayetana and Celia, now 12 years old, were born from a fusion of an egg from Loló Suárez and a sperm from Eduardo Agraso in 2010. Both girls suffer from progressive osseous heteroplasia, an extremely rare disease that affects only a hundred people in the world.
While Celia shows hardly any symptoms, her sister Cayetana’s muscles are rapidly transforming into bone. In her desperate bid to ease her suffering, Cayetana requested that both her legs, which have already petrified, be amputated a year and a half ago. Despite the medical team’s efforts, there is currently no preventive or curative treatment available for the disease, leaving Cayetana in a medically dire situation.
Pediatrician Federico Martinón Torres, who leads the medical team working on the case, expressed their frustration at the lack of progress. Martinón explained that they have tried numerous approaches to no avail, stating, “We have tried a lot of things, everything that made sense. And to date, we have failed. That is the truth. You have a patient admitted, but you have nothing to offer her. Not only us: nobody in the world.”
The researchers believe that the key to understanding the differing severity of the disease lies in epigenetics, the study of changes in gene expression. Geneticist Antonio Salas suggests that Cayetana’s epigenetic composition, which is responsible for activating or deactivating the GNAS gene that prevents bone formation, might be different compared to her sister’s. They suspect that Cayetana has a mosaic state, with two types of cells having contrasting epigenetic compositions.
María José Currás, a Mexican biochemist who presented her doctoral thesis on the twins, documented various efforts by the Santiago de Compostela research group to understand the disease at the cellular level. They have analyzed the letters of the girls’ DNA, epigenetic marks, produced proteins, and intermediary molecules, but the differences between Cayetana and Celia have not emerged yet. Despite the lack of progress, Currás remains hopeful and optimistic.
The parents, Loló Suárez and Eduardo Agraso, have not lost hope either. In 2016, they established the Galician Association of Progressive Osseous Heteroplasia to raise funds for research. Although Cayetana’s condition continues to worsen, they are determined to find a solution not just for their daughter but for others suffering from this rare disease as well.
Medical experts in the field, including the renowned doctor Fred Kaplan, believe that the twins share the same mutation, but the more severely affected sister might have an additional mutation. However, other genetic experts, like David Liu from Harvard University, argue that there might be undiscovered genetic and epigenetic variations between the twins that could explain the disparate symptoms.
As the medical team continues to explore further, they are cautiously optimistic about finding answers and potential treatment options. In the meantime, the journey to unravel the mystery of the twins’ condition continues, raising hopes for a breakthrough that could ultimately benefit not only Cayetana but other affected individuals around the world.