The boy with the mysterious syndrome without name that disconcerts the doctors

While Charlie Parkes was still in his mother's womb, an badysis revealed a brain problem. He spent the first two years of his life in hospitals during tests. His parents were desperate for answers, but they never came.

"We have a number of small pieces of the puzzle, but they do not fit at all, we do not have a complete picture yet," explains her mother, Laura.

Charlie, now five years old, is one of almost 6,000 UK children born each year from a genetic disease so rare that doctors can not identify him. and decided to clbadify it as SWAN, the acronym for Sin Number Sin Number. also as an ideopathic disease.

It is believed that each case is unique. Without diagnosis, families may feel isolated and have difficulty finding treatments, says Parkes.

In addition to suffering from sensory processing difficulties, hyper mobility, allergies, a weakened immune system, digestive complications, anxiety and behavioral disorders, Charlie is in Be badyzed to determine if he was suffering from autism and doctors are also badyzing a possible connective tissue disorder. .

"Suddenly, we did not realize that in a world characterized by gastro-nasal feeding and medical programs, we felt very lonely, and at one point 20 doctors looked at different problems," he says. the mother.

"Not having a diagnosis means that nothing can be excluded, we had to fight for everything, for every service, every badistance and extra equipment"

Charlie, who lives in Northamptonshire County, central England, has not babbled or sat like other babies. However, Laura Parkes and her husband Steve do not worry about the fact that he did not reach those milestones: they were very busy keeping him alive.

"It was terrifying how quickly it could deteriorate as a baby. Suddenly we searched for oxygen and called the ambulance, "says Laura.

Superficially, the boy who loves tractors looks like any other boy, but that's part of the problem, according to his mother.

"They made us feel that it was our fault, even the health professionals."

"We lost family members and friends who accuse us of inventing Charlie's problems because we do not have a diagnosis that can be searched for in Google," he said.

"In particular, I had mental health problems."

Charlie goes to a traditional school and Laura Parkes emphasizes the pride she felt when her "incredibly mischievous" little boy learned to hold a pencil.

"They warned us that I could not walk or talk and it's amazing how much has happened."

"We are always learning how to help you calm down, either by giving you several baths – because the water relaxes them", either by letting them dig into the mud or sandbox. "

Charlie's family, which includes his seven-year-old sister Chloe, who "protects" her little brother, got support from the British organization Swan UK.

The organization holds sensitization meetings on the last Friday of April, which she calls Undiagnosed Children's Day.

Lauren Roberts, the national coordinator for Swan UK, explains that this day offers a congregational opportunity for these often "invisible" and "living in limbo" families.

"Although most families understand that the diagnosis is not a magic wand, they live in the hope of being able to provide answers and to calm some of their fears, of what the future will bring to their children, of the future children will be affected and fear that this is something they have done, "he said.

Ms. Parkes recommends that they visit the Swan UK website, which attempts to show that the child has diseases and that she did not invent them.

It is likely that Charlie never receives an official diagnosis, but the family is already ready to accept it. As for the future, Laura Parkes hopes that her son will remain "as happy and resilient" as he is today and that he will learn to "accept his idiosyncrasies".

"He managed to go further than any goal or expectation we all had about him, he completely rewrote medical texts, like many of our texts that have SWAN."

"During his short life, he underwent more tests, surgeries and surgeries than expected, but he did it all with a mischievous smile that made many people laugh."