A HEARTBROKEN mum has told how her daughter underwent six cycles and five months of unnecessary chemotherapy after she was misdiagnosed with an autoimmune disease.

Faye Condon, 12, was first diagnosed with Juvenile Dermatomyositis (JDM) aged five after her mum Christina noticed that she wasn’t running and jumping as well as other children her age.

Faye Condon, 12, was first diagnosed with Juvenile Dermatomyositis (JDM) aged five

She was given six rounds of unnecessary chemotherapy

But, Christina, 36, was not convinced by Faye’s autoimmune disease diagnosis from Bristol Children’s Hospital and claimed she pushed doctors to test for other conditions.

Despite this, Faye, from Plymouth, was given six rounds of chemotherapy and home injections, suffering painful side effects.

Yet, her condition failed to improve and Christina begged doctors at her local clinic at Derriford Hospital for a second opinion, who referred her to Great Ormond Street.

It was only here, that she was then diagnosed aged 12 with novo Emery-Dreifuss muscular dystrophy (EDMD).

The condition causes progressive muscle weakness and wasting, joint tightness and heart issues disrupting the electrical signals the guide the heart to pump at the right time.

EDMD is a genetic condition but there are currently no treatments to help cure it, meaning her chemotherapy and injections were unnecessary.

Now, Christina, who says “doctors ruined my little girl’s whole childhood”, is in the process of formally complaining against Bristol Children’s Hospital.

Faye is currently losing the use of her legs very quickly due to EDMD and uses a wheelchair.

Recalling Faye’s traumatic ordeal, Christina said: “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.

“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.

“We put our lives on hold because we were always told she was going to get better.”

Christina said she first took Faye to hospital in March 2019, aged five, and was referred to Bristol Children’s Hospital (BCH) where doctors ran initial tests.

Faye was then diagnosed aged 12 with novo Emery-Dreifuss muscular dystrophy that has now left her in a wheelchair

Christina first noticed that Faye wasn’t running and jumping as well as other children her age

She said: “I first took her for hip pain and inability to bear weight, and we knew something was wrong but the doctors couldn’t see what I could see as a parent.

“She couldn’t walk 200 yards to school, she would randomly fall, I had to take videos and pictures to prove it.

“It was subtle but obvious to me as her mum.

“The doctor was very flippant about it, they just threw medicine at her but nothing would make a difference.

“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.

“Everyone could see there was something wrong, but no one wanted to take responsibility for her and do more tests as tests cost money.

“The staff at the hospital were very vocal about a financial fight about which department would pay for testing, but as parents we shouldn’t be hearing that.

“Every test for the autoimmune disease was negative, not a single test they did pointed towards JDM.

“She even had a muscle biopsy which pointed to a congenital muscle disease, not an autoimmune disease, but that was overlooked.

“In November 2019, we got the JDM diagnosis.”

As a result of the diagnosis, Faye underwent her first round of chemotherapy in January 2021.

Christina said: “She was about seven for her first round of chemo and was so sick, it was awful.

Christina begged doctors at her local clinic at Derriford Hospital for a second opinion

“We couldn’t be near anybody and she became really poorly, it was horrific to watch.

“She then 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.

“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.”

But Christina then begged doctors at her local clinic at Derriford Hospital for a second opinion.

One of the first doctors that saw Faye at her local clinic at Derriford Hospital, Plymouth, agreed with Christina that the JDM diagnosis was not correct and pushed to get her referred to Great Ormond Street Hospital (GOSH).

Christina said: “Without the support of doctors at Derriford Hospital, we would never have got the correct diagnosis.

“They have been amazing from day one, they listened to and believed us as parents and really pushed for someone to listen.

“If we need help we try to avoid BHC at all costs because we don’t trust the doctor there. “

The doctor at Derriford Hospital did genetic blood tests and referred her to GOSH where Faye finally received the correct diagnosis.

Christina said: “The specialist at GOSH took one look at her and named this type of muscular dystrophy.

“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.

“Those doctors ruined my little girl’s whole childhood. I feel so let down by everybody.”

Faye was referred to Great Ormond Street Hospital

Given there is currently no treatment to cure muscular dystrophy, Faye’s treatments are to ensure she is comfortable and pain-free as possible.

Christina said: “She is losing the use of her legs very quickly, she was refused entry into a school because her needs changed too much.

“Our house is not made for a wheelchair user so our house is unsafe.

“She is currently 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.

“Every appointment we go to is more bad news and Faye is not coping with the new diagnosis, she has lost the ability to be independent.

“If I was Faye I would have given up by now, but she depends on me.”

One 2023 study by the British Medical Journal (BMJ) estimated that misdiagnoses affect around one in 18 patients in primary and secondary care.

Christina is now in the process of making a formal complaint against BCH.

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. We want to approach this with care and compassion and will take the time needed to fully understand what has happened.”

Source: https://www.the-sun.com/health/16649232/unnecessary-chemo-misdiagnosis-leaves-girl-wheelchair-bound/