When 5-year-old Charlie Parkes was still in his mother's stomach, examination revealed a problem in his brain. He spent the first two years in a hospital in England under constant observation.
His parents were desperate for the answers, but they never came. "We have very few pieces of a puzzle, but they do not fit well," says his mother, Laura.
Charlie is one of approximately 6,000 children born every year with a genetic condition so rare that doctors can not identify it and therefore classify it as a "nameless syndrome" ("English").
Each case is considered unique. Without a diagnosis, families may feel isolated and face a battle for healing, Laura says.
Along with problems with sensory processes, hypermobility, allergies, weakening of the immune system, digestive and bowel problems, anxiety disorders and reactive addiction, Charlie presents the possibilities associated with autism, and doctors investigate a possible condition in their connective tissue.
"Suddenly, we were thrown into this world of feeding pipes and drug plans, we felt very lonely." At one point we were accompanied by 20 different doctors, "said Laura.
"The lack of a diagnosis often means that you do not fit in any conditions. We had to fight for everything, all services, every equipment and the type of support needed."
"We were forced to think it was our fault"
Charlie did not torture or sit like other babies. But Laura and her husband, Steve, were not worried about child development milestones because they were too busy keeping him alive.
"It was frightening how quickly her condition could get worse as a baby. We suddenly searched for an oxygen tube and called for an ambulance," she said.
The boy loves tractors and seems to be a child like everyone else, but that's part of the problem, according to his mother.
"We were forced to think it was our fault, even from doctors". We left our family and friends and were accused of inventing Charlie's problems because we have no diagnosis that people can come to Google. my mental health ".
Charlie goes to a regular school, and Laura says she is very proud of her "incredibly insolent" boy who has recently learned to hold a pencil.
"We were told that he can not go or talk, and it's amazing how he came in. We always learn how we can help him calm down, whether with several baths, because the water actually relaxes him or let him leave. to dig in the mud or in his box of garbage. "
Family support network
Charlie's family, including 7-year-old Chloe, who is "very protective" of her younger brother, received support from the Swan UK organization, which in April last year organized a campaign to raise awareness from an undiagnosed child.
Lauren Roberts, the national coordinator of Swan UK, said this is a chance for these families, who are often "invisible" and "live in uncertainty," to unite.
"While most families understand that the diagnosis is not a magic wand, they live hoping to have answers and alleviate some of their fears about the future of their children," she said.
When people suspect that Charlie is ill, Laura says now, it points to Swan UK's place. Charlie will probably never get a formal diagnosis, and his family began to accept it.
As for the future, Laura hopes that her child can be "happy and resilient" and learn to "accept her habits".
"He surpassed all the expectations that someone had for him, he torn up the medical books and wrote his rules as he did. He spent several trials, procedures and operations in his short life than anyone else should have, always with insolent smile that made many people smile on him on the road. "
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