BARCELONA, Spain — Like many four-year-olds, Alexandra Peraut Martinez loves dancing and playing with her siblings. But unlike other girls her age, a rare genetic condition means she has the body of an elderly woman.
Despite the rare genetic condition, the four-year-old enjoys her swimming and dancing classes to the fullest. Going to school is one of her favorite activities, where her pals are very supportive of her.
“I am Alexandra, I have progeria, but I am a girl like any other girl,” she said during one of her school activities during the lockdown.
Born to Spanish parents Esther Martinez Gracia, 50, and Cedric Peraut, 54, in the football-crazy city of Catalonia, Alexandra was diagnosed with Hutchinson-Gilford syndrome, popularly known as progeria.
The rare disease speeds up the aging process by eight times and shortens the life-span of the individual.
“We did all the tests to rule out chromosome conditions, but progeria is a rare disease that is impossible to detect with this kind of test and it can only be seen when the child is one-and-a-half years or two years old, as the child has special physical characteristics,” said Esther.
Alexandra is only one of the two cases with progeria diagnosed in Spain and one of the 123 cases diagnosed in the world.
The disease which affects one child in over 20 million makes kids age faster, as they have more progeria protein — a protein that is commonly found in elder people only. Normally, these kids develop heart and joint alignments early and their life span is shortened to 13 years on average.
Esther and Cedric became parents a bit older than most people, she was 46 when she conceived Alexandra. Till 22 months, the little girl showed no symptoms of progeria.
Soon, loss of hair and weight meant there was something drastically wrong. Her parents approached a pediatrician, who suspected she was suffering from a genetic disease, asking them to undergo a genetic test.
“It was unbelievable to have to wait so long without answers. In Alexandra’s case, having a diagnosis early could avoid future problems,” said her mother about the instance when a major hospital in Barcelona informed them that the diagnosis and the results of the tests would take a year and a half.
Not delaying anymore, the parents decided to look for answers online where they came across a girl resembling Alexandra.
“I showed the picture to my husband and it was a moment of sheer shock. He kept on investigating, and we contacted Carlos Lopez Otin, a biochemist at Oviedo University, who told us to give them three blood samples. Three days later, the diagnosis of progeria was proved,” the mother said.
The diagnosis changed their lives completely, Esther left her sales manager job with a car company to spend maximum time with her daughter.
“My life was leaving on Monday and going back home on Friday, but when the diagnosis was given, you thought about your life and the priorities and the important part was to spend the maximum time with her and that was not compatible with the job.”
Along with her husband Cedric, she set up the Alexandra Peraut Progeria Association which improves the quality of life for children suffering from the disease around the world.
Unlike other elder patients, Alexandra doesn’t have many symptoms at the moment but things can change in no time. At the moment, taking aspirin daily for heart-related issues has become a new normal for her.
Recently, a popular international non-government organization also fulfilled her dream by organizing a trip to Euro Disney, where she got to meet her favorite character Minnie.
(Edited by Vaibhav Vishwanath Pawar and Shirish Vishnu Shinde.)
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