Faye Condon, 12, from Plymouth, Devon, was wrongly given six rounds of chemotherapy after doctors misdiagnosed her with Juvenile Dermatomyositis (JDM), a rare autoimmune disease. She was later found to have de novo Emery-Dreifuss muscular dystrophy type 2, a progressive disorder with no treatment.
Initial Symptoms and Diagnosis
Faye was first taken to hospital at age five when her mother, Christina, noticed she was not running and jumping like other children. She was referred to Bristol Children's Hospital (BCH), where doctors ran initial tests and in November 2019 diagnosed her with JDM. Christina was not convinced and pushed for further testing.
“We have spent her entire childhood in and out of hospital, we haven't been on holidays and we don't have a house or car that is wheelchair accessible as we were told she was going to get better,” Christina told the Mirror.
Chemotherapy and Its Toll
Chemotherapy began in January 2021 when Faye was seven. The six rounds caused severe sickness and led to viral meningitis as a side effect of a blood product. “She was about seven for her first round of chemo and was so sick, it was awful,” Christina said. “We couldn't be near anybody and she became really poorly, it was horrific to watch.”
Every test for JDM was negative, and a muscle biopsy pointed to a congenital muscle disease, but that was overlooked. “There is no treatment for muscular dystrophy so she wouldn't have had to have any of this if they diagnosed her properly the first time,” Christina added.
Second Opinion and Correct Diagnosis
Frustrated, Christina sought a second opinion at Derriford Hospital in Plymouth. Doctors there agreed the JDM diagnosis was incorrect and pushed for a referral to Great Ormond Street Hospital (GOSH) in London. In August 2024, nearly six years after the initial diagnosis, GOSH confirmed Faye had EDMD type 2. “All it took to diagnose her was a blood test with specific genetic testing, but the doctors at BCH were so adamant that it was JDM they never sent for this test,” Christina said.
Impact on Family
Christina described the misdiagnosis as ruining her daughter's childhood. Faye is losing the use of her legs, was refused entry to a school due to changing needs, and requires a ventilator at night. “She is currently a ticking time bomb, her heart could stop at any minute,” Christina said. “Had we known from five years old, we would have everything in place.”
Hospital Response
Professor Steve Hams, Chief Nursing and Improvement Officer at Bristol NHS Foundation Trust, said: “We are very sorry to hear of the concerns raised by Faye's family and our thoughts are with them. We are reaching out to her mother to listen to and understand her family's experience.”
