Overview
- When Faye Condon was five, clinicians at Bristol Children’s Hospital diagnosed juvenile dermatomyositis and treated her with immunosuppressants and repeated chemotherapy, including at least six cycles between 2021 and later years.
- Unconvinced, her mother sought second opinions at Derriford Hospital and Great Ormond Street Hospital where blood genetic testing showed a de novo Emery‑Dreifuss muscular dystrophy type 2 diagnosis.
- Because EDMD is a genetic progressive muscle disorder and not an autoimmune disease, the immunosuppressive drugs and chemotherapy would not have treated Faye’s condition and exposed her to unnecessary risks.
- The family says Faye has lost much leg mobility, now uses a wheelchair, needs night‑time ventilation and faces elevated cardiac risk, and they have prepared a formal complaint against the original treating team.
- The Bristol NHS Foundation Trust says it has contacted the family to investigate, and the case highlights how earlier genetic testing at specialist centres can change care, avoid harmful treatments and prompt reviews of diagnostic pathways.