Plymouth Girl Treated for Rare Disease She Never Had With Chemo: Now in Wheelchair and on Night Ventilator

Faye Condon from Plymouth underwent six rounds of chemotherapy, starting at the age of seven, for a rare autoimmune disease she never had. In 2019, when Faye was five, she diagnosed with Juvenile Dermatomyositis by doctors at Bristol Children's Hospital, but latest tests showed she has de novo Emery-Dreifuss muscular dystrophy type 2, which has no treatment currently.

After seven years of enduring chemotherapy, which included home injections and muscle biopsies, Faye received the correct diagnosis after her mother Christina Condon's efforts for more tests resulted in a referral to the Great Ormond Street Hospital.

'Those doctors ruined my little girl's whole childhood. I feel so let down by everybody,' Christina had recently told The Telegraph, referring to doctors at the Bristol hospital who were reportedly 'flippant' about Faye's deteriorating health and 'just threw medicine at her' that won't work.

When Faye was five, Christina took her to the hospital after she started facing mobility issues and inability to bear weight.

'She couldn't walk 200 yards to school, she would randomly fall; I had to take videos and pictures to prove it... In October 2019 we were categorically told it was not muscular dystrophy, but I'm sure that the doctor was looking for her to fit into a rheumatology disease,' according to Christina.

She claimed that budget limitations were influencing decision-making at the Bristol hospital, and that everyone at the hospital knew there was something wrong, but they were more vocal about which department would bear the cost of testing and treatment.

The hospital reportedly pushed towards the Juvenile Dermatomyositis diagnosis even though all tests for the autoimmune disease, including a muscle biopsy, were negative but rather pointed to a congenital muscle disease.

When Faye's health deteriorated after six cycles of chemotherapy, Christina insisted on getting a second opinion, and a doctor who saw Faye at the Derriford Hospital helped refer her to Great Ormond.

A 2023 study published in the BMJ Quality & Safety estimated that one in every 18 patients experiences a diagnostic error in primary or secondary healthcare settings. Researchers concluded that diagnostic mistakes represent one of the most common causes of preventable patient harm worldwide.

Earlier research published in BMJ also estimated that serious diagnostic errors contribute to hundreds of thousands of cases of preventable disability or death globally each year.

In the meanwhile, Faye's health 'became really poorly, it was horrific to watch,' according to Christina, who added that Faye also contracted viral meningitis 'as a side effect of a blood product a doctor gave her and she was forced to stay in a dark room.'

'Her Heart Could Stop Any Minute'

Faye did not receive the treatment she needed for more than half a decade. Now, her mother believes she is losing the use of her legs rapidly. She was also refused entry into school as her needs changed drastically.

'She is a ticking time bomb, her heart could stop at any minute and she is on a ventilator at night, so cannot have a sleepover like other girls in her class. Had we known from five years old, and they had diagnosed her correctly, we would have everything in place and wouldn't be in such a desperate situation now,' according to Christina.

She is now making a formal complaint against Bristol Children's Hospital. At the same time, Bristol NHS Foundation's chief nursing and improvement officer Steve Ham said the foundation is reaching out to the affected people and will 'take the time needed to fully understand what has happened.'