- Written by Sharon Barber
- BBC Look North Health Correspondent
image source, penny taylor
Penny Taylor says she doesn’t know if she will get sick like her mother Liz.
Neuroferritinosis, a rare brain disease in which a person becomes trapped inside the body, appears to be having a major impact on the offspring of one family. As the university launches a drug trial in the hope of reversing its effects, the BBC spoke to the families of four sisters diagnosed with the disease.
Liz Taylor was a healthy 38-year-old when she learned she would never be able to walk, talk or even eat.
She had been experiencing pain in her hands and after weeks of tests doctors in Newcastle said she had a neurological condition and there was no cure.
“I remember her running upstairs crying,” said her daughter Penny, also 38.
Liz’s husband James, 62, had no choice but to watch helplessly as his wife’s health deteriorated.
Liz Taylor can’t walk, talk or eat.
Liz, now 59, is trapped inside her own body.
Although her mind is still fully active, James can only communicate with her by reading the expressions in her eyes.
The following year brought even more shocking news for the family when each of Liz’s three sisters was diagnosed with the same condition.
It turned out to be a genetic condition that none of the family, who live in Rochdale, Greater Manchester, knew anything about.
image source, Handouts to families
James and Liz Taylor, young photo
Scientists believe there are only about 100 people worldwide with the disease, and the majority come from the same Cumbrian family.
Often misdiagnosed as Parkinson’s or Huntington’s disease, scientists have discovered that it is actually a new disease and named it neuroferritinopathy because it is caused by iron buildup in the brain. .
Researchers have discovered that a genetic defect means that iron gets into the brain but cannot get out.
“Living in a shell”
A trial at the University of Cambridge will test whether existing drugs can be repurposed to extract iron to stop, reverse or even “cure” some patients.
It brings a glimmer of hope to Liz and her sisters, including 61-year-old Heather Gartside.
image source, Handouts to families
Stephen Garside and Heather Garside, young photo
Her husband Stephen, 59, also says he can understand everything going on around him, but is unable to communicate.
She can barely move and can no longer speak.
“We watched Elizabeth deteriorate and we knew this was going to be life-changing,” says Stephen, now his wife’s devoted caregiver.
Heather has also been diagnosed with neuroferritinosis.
He asks her if she can help him find the words to explain how difficult it is, but she is unable to answer.
James looks at Liz and says, “It must be frustrating to live in that shell.”
The disease was first discovered by scientists in Newcastle who saw an increasing number of cases from Cumbria.
image source, Getty Images
A common ancestor may be Fletcher Christian, who is known for leading the 1789 mutiny on the Bounty.
Professor Sir John Byrne of Newcastle University, who named the disease, found that almost all known cases were likely descendants of the same ancestor.
He traced it back to Cockermouth, Cumbria, and a family with the Fletcher surname in the 18th century.
Research is also being conducted to determine whether they may have had a common ancestor with Fletcher Christian, who is known for leading the Bounty mutiny in April 1789. He was also from this area, but evidence of this remains unclear.
“Potential treatment”
Almost 25 years after the condition was recognized, Patrick Chinnery, a professor of neurology at the University of Cambridge, is starting a year-long trial of an existing drug, deferiprone. He hopes the drug “may be able to extract iron from the body.” It repairs the brain and halts the progression of the disease.
Professor Chinnery said: “Scans show where iron is concentrated in the brain, and this is more noticeable in people who have inherited this genetic change.” Professor Chinnery said: “It can take up to 40 years for symptoms to begin to appear. ” he added.
image source, Handouts to families
Sisters Liz and Heather were both diagnosed with neuroferritinosis
If a patient has had symptoms for 10 years, the excess iron is “obviously causing damage to the brain itself, destroying the supporting tissue,” Professor Chinnery explains.
“Our main goal is to stop the progression of the disease, which may lead to some reversal of the problem.”
The trial was approved by the Medicines and Healthcare products Regulatory Agency (MHRA) in February.
The project is supported by the LifeArc Rare Disease Translational Challenge, which has donated £750,000.
“Drug repurposing trials are an increasingly effective way to apply already approved treatments to new conditions and diseases,” said LifeArc’s Dr. Catriona Crombie.
If the trial is successful, Professor Chinnery said, all doctors could be able to give it to people before they develop any symptoms.
For these patients, he says, that means “the possibility of a cure.”
Sisters are cared for by family members
He also says it could open the way to treating other conditions related to iron buildup in the brain.
“If we can show that reducing iron stops nerve cell damage in this state, it wouldn’t be a huge leap to suggest that a similar approach could help in Parkinson’s and Alzheimer’s diseases. ” he added.
“I try not to think about it.”
The deferiprone trial offers hope where there was none before: that an effective treatment may be possible.
Liz’s daughter Penny helps with much of the family’s care, but we don’t know if she has the disease.
“I try not to think about it,” she said, adding, “I believe that if I think about it, it will happen sooner.”
Penny Taylor helps take care of her family
She says she’s worried about raising hopes that the trial will be successful, but added that “it means everything” to her and her family.
Heather’s husband Stephen agreed, adding: “If it delays the symptoms, that’s a win. She won’t get any worse. If it can be cured, that’s great, really great.” .
“That means a lot, doesn’t it?” Stephen says, looking at his wife.
