UK Girl Suffered Six Unnecessary Chemo Rounds Due to Misdiagnosis

A Misdiagnosis Rooted in Clinical Oversight

Faye’s health struggles began when she was five years old. According to her mother, Christina Condon, Faye struggled to walk “just 200 yards to school [and] would randomly fall,” leading to an initial referral for hip pain and mobility issues. In November 2019, doctors at Bristol Children’s Hospital diagnosed her with JDM, an autoimmune disorder that causes muscle inflammation.

To manage the condition, medical staff initiated a regimen of corticosteroids and chemotherapy. Christina Condon reported that her daughter was subjected to home injections, muscle biopsies, and blood transfusions, one of which resulted in a secondary infection of viral meningitis. Despite these interventions, Faye’s muscle strength continued to decline.

"Every test for the autoimmune disease was negative," Christina Condon told New York Post, noting that medical staff remained adamant about the JDM diagnosis. "Not a single test they did pointed towards JDM." The family alleges that departmental budget constraints may have influenced the hospital’s reluctance to authorize further diagnostic testing, even as the child’s condition worsened.

The Path to a Correct Genetic Diagnosis

Frustrated by the lack of progress and the "flippant" attitude of her daughter’s care team, Christina Condon sought a second opinion. A physician at Derriford Hospital in Plymouth recognized the severity of the situation and facilitated a referral to Great Ormond Street Hospital (GOSH) in London.

"Without the support of doctors at Derriford Hospital, we would never have got the correct diagnosis," Christina Condon stated. At GOSH, specialists performed specific genetic testing that immediately identified the true cause of Faye’s atrophy: de novo Emery-Dreifuss muscular dystrophy (EDMD) type 2. Unlike JDM, which is autoimmune, EDMD is a rare, incurable genetic mutation that affects skeletal and cardiac muscles.

The Human and Medical Toll of Delayed Care

The delay in diagnosis has left the family with significant, life-altering consequences. Because they were repeatedly told Faye would recover with treatment, the family postponed accessibility modifications to their home and vehicle.

"If we had the correct diagnosis seven years ago when Faye was able to walk, we could have gone on holiday and had more fun with her before she was wheelchair bound," Christina Condon said. "We put our lives on hold because we were always told she was going to get better."

Faye now requires a nighttime ventilator and uses a wheelchair, and her mother describes her health as a "ticking time bomb" due to the risk of sudden, life-threatening cardiac arrhythmias associated with EDMD.

Accountability and Diagnostic Error Rates

The Condon family is now pursuing a formal complaint against Bristol Children’s Hospital. In response to the case, Steve Ham, the chief nursing and improvement officer for the Bristol NHS Foundation, stated that the foundation is reaching out to the family to understand the sequence of events.

The case highlights a broader issue in healthcare. Research published in the BMJ Quality & Safety journal estimates that one in every 18 patients experiences a diagnostic error. These mistakes are cited as a leading cause of preventable patient harm globally, often occurring when clinicians fail to pursue genetic testing or alternative diagnoses once an initial theory is established.

For families navigating complex medical symptoms in children, the case serves as a stark reminder of the importance of parental advocacy. Christina Condon remains focused on ensuring her daughter receives the specialized support now required for her condition, though she expresses deep regret for the years lost to unnecessary chemotherapy.

If you are concerned about a child’s persistent medical symptoms or treatment plan, consult your healthcare provider or seek a second opinion from a specialist at a tertiary care center.

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