Posted in: Health

Father Takes Daughter For Check-Up And Is Diagnosed With Rare Disease When Doctor Sees The Way He Ties His Shoes

He was later diagnosed with a rare genetic disorder.

Butcher Ian Redfern took his daughter to a doctor’s appointment. When he got to the office, he thought he was a perfectly healthy 45-year-old. When he left, he’d been diagnosed with a rare genetic disorder, that he’d apparently been living with his whole life and never knew it.

Redfern’s daughter, Evie, was diagnosed with a condition called Ehlers Danlos Syndrome (EDS) at age 3. The now 6-year-old has skin that bruises and damages easily. On a recent trip to the hospital with Evie, the girl’s doctor noticed something strange about the way that Redfern bent to tie his shoes.

EDS is a disease that manifests itself in various ways. While the syndrome is genetic, neither of Evie’s parents thought they had the illness. But one of the symptoms of the rare disease can by hyper-mobility, where the joints are much more flexible than normal.

When Evie’s doctor at the Children’s Hospital in Sheffield, England, saw Redfern tie his shoes, she recognized the hyper-flexibility of his wrists, and ran tests.

Sure enough, Redfern also has the disease, but has lived his whole life never knowing it.

“I don’t know what the doctor saw,” recalls Redfern, “She just realized I had the same condition as Evie.”

“In my life EDS hasn’t been a problem as I didn’t even know I had it,” Redfern adds. “But that’s the thing with the condition it effects different people different ways, there could be lots of people who don’t know they have it.”

Redfern was diagnosed with EDS, a rare disorder, when Evie's doctor saw him tie his shoes.

Dr. Sobey, Evie’s specialist, said, “It is so rare for someone to live with Classical EDS and not know, the condition is usually diagnosed in early childhood. Because the condition is hereditary we always test parents to see if they carry the gene, but I have never seen a case like this before where a parent had Classical EDS but didn’t know.”

Redfern speaks of his daughter’s diagnosis: “We were so relieved when Evie was diagnosed as we knew there was something wrong with her, it was so strange to see the way her skin broke when she was bumped. I never expected the doctor to say I had the condition too, I had no clue, it was just so strange especially because Evie’s symptoms were so severe.”

EDS is actually a group of common disorders that share common features and symptoms, like bruising easily, joint hypermobility (the clue that Evie’s doctor noticed in Redfern), and skin that stretches or breaks easily.

While there is no cure for EDS, there are preventative measures. Evie, for example, wears special tights to protect the skin on her legs. Now that Redfern has been diagnosed, he will have annual heart checks, since the condition can cause various heart problems.

Articles And Offers From The Web

Comments