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A young girl from Plymouth endured years of unnecessary chemotherapy after being misdiagnosed with an autoimmune condition, only to later discover she has a rare form of muscular dystrophy.
Faye Condon, now 12, was first diagnosed at age five with Juvenile Dermatomyositis (JDM) after her mother, Christina, noticed that Faye was struggling to run and jump like other children. Despite the diagnosis, Christina remained skeptical and pushed for further testing.
Over seven difficult years, Faye underwent six rounds of chemotherapy, at-home injections, and even a muscle biopsy. It wasn’t until she was referred to Great Ormond Street Hospital (GOSH) that she finally received an accurate diagnosis: de novo Emery-Dreifuss muscular dystrophy (EDMD) type 2, a condition for which no treatment currently exists.
Christina described the family’s ordeal: “We’ve spent her entire childhood in and out of hospitals. We haven’t gone on holidays, and our home isn’t wheelchair accessible because we were told she was going to get better. If we had known the truth seven years ago, when Faye could still walk, we could have made the most of those years.”
Concerned by Faye’s worsening condition, Christina sought help in 2019, bringing her to Bristol Children’s Hospital (BCH). However, despite clear symptoms-such as difficulty walking and frequent falls-doctors dismissed her concerns and focused on treating JDM.
Christina recalls, “The doctors just threw medicine at her, but nothing helped. Even after a muscle biopsy suggested a congenital muscle disease, it was overlooked.”
Faye began chemotherapy in January 2021, which caused severe side effects, including viral meningitis from a blood product. Christina lamented, “There’s no treatment for muscular dystrophy, so none of this would have happened if she’d been properly diagnosed from the start.”
A 2023 British Medical Journal study highlights that misdiagnosis affects about one in 18 patients, underscoring the challenges faced by families like the Condons.
Eventually, a physician at Derriford Hospital in Plymouth supported Christina’s doubts and arranged for genetic testing and referral to GOSH. There, Faye’s correct diagnosis was confirmed with a simple blood test.
Christina expressed her heartbreak: “Those doctors ruined my little girl’s childhood. She’s losing her mobility quickly, was refused entry into a school that couldn’t meet her needs, and our house isn’t safe for her wheelchair. She’s a ticking time bomb-her heart could stop at any moment, and she needs a ventilator at night.”
Now focused on making Faye as comfortable as possible, Christina is pursuing a formal complaint against BCH. Bristol NHS Foundation Trust has acknowledged the family’s concerns and is reaching out to offer support and investigate the situation.
This heartbreaking story highlights the vital importance of thorough and accurate diagnoses, especially when a child’s future is at stake.