Benny Taylor says she doesn’t know if she will get sick like her mother
- Author, Sharon Barbour
- Role, Health Correspondent – BBC Luke North
Ferritin neuropathy is a rare condition that affects the brain, traps people in their bodies, and seems to largely affect future generations of the affected family. While a university launched a new experiment with the aim of finding drugs that can reverse the effects of the disease, the BBC spoke to a family of four sisters who were diagnosed with the disease.
Liz Taylor was 38 years old when she found out she would lose her ability to walk, talk and even eat.
She initially had pain in her hands, and after weeks of tests, doctors in Newcastle told her she had a neurological disease for which there was no cure.
“I remember one time she ran upstairs crying,” says Liz’s daughter, Penny.
Liz’s husband, James, now 62, had to helplessly watch his wife’s health deteriorate.
Liz Taylor is unable to eat, walk or talk
At the age of fifty-nine, Liz became completely trapped in her body.
Her mind is still very active, but her husband James can only communicate with her by reading the expressions in her eyes.
The years following Liz’s injury also brought more bad news for the family, as Liz’s three sisters were diagnosed with the same condition.
It turned out that it was a hereditary disease, but the family members who live in the town of Rochdale, Greater Manchester, did not know anything about it.
James and Liz Taylor during their youth
“Living in internal isolation”
The University of Cambridge has begun a trial to see whether an iron-withdrawal drug could be repurposed, halting, reversing or even “curing” the deterioration of some patients’ condition.
This experience is a ray of hope for Liz and her sisters, including 61-year-old Heather Gartside.
Stephen and Heather Garside in their youth
Heather’s husband, Stephen, says she can understand everything that is happening in the world around her, but she cannot communicate, can barely move and can no longer speak.
Stephen, who is his wife’s caregiver, adds: “We saw Elizabeth deteriorate, and we knew that the disease would change her life.”
Heather after she was diagnosed with the disease
Stephen asks if there are words that can describe how difficult it is for his wife, Heather, who cannot answer any questions.
As for James, he looks at his wife, Liz, and says: “It is very difficult to live in this internal isolation.”
Scientists discovered the disease for the first time in Newcastle, after its symptoms appeared on a large number of patients in a town called Cumbria.
Fletcher Christian, the leader of the mutiny on the Bounty, may have the same family line as the disease
Professor John Byrne, from Newcastle University – who gave the disease this name – discovered that all the cases diagnosed at the time likely came from the same family.
It traces the history of the infected in Cockermouth, Cumbria to the 18th century in Cockermouth, Cumbria, as well as families bearing the surname Fletcher.
Investigations have also been made to find out whether the infected people share a common ancestry with Fletcher Christian, who is known for leading the mutiny on the ship “Bounty” in April 1789, since he was also from the region, but this evidence remains unclear until now.
Now, 25 years after Liz’s diagnosis, Professor of Neuroscience at the University of Cambridge Patrick Chenery is close to starting a trial that is likely to last a year, during which he will use the drug deferiprone, which he hopes will be able to “pull iron out of the brain” and stop the progression of the disease. .
“Scans show where iron accumulates in the brain, and in people who have inherited this genetic change, this is easily identified,” Professor Chenery says, adding: “It can take 40 years before symptoms start to appear in patients.”
image source, Unspecified
Sisters Heather and Liz were diagnosed with the disease
Professor Chenery explains that after patients have had symptoms for 10 years, excess iron “clearly causes damage to the brain itself, destroying the supporting tissue.”
He adds: “Our main goal is to stop the progression of the disease, and this may lead to reversing some problems.”
The trial was approved by the Medicines and Healthcare Products Regulatory Agency last February.
The trial is supported by the LifeArk Rare Disease Challenge Foundation, which contributed $750,000 to make the trial a success.
“Drug repurposing trials are an effective way to invest already approved treatments into new conditions and diseases,” says Dr Catriona Crombie, from LifeArk.
If the trial is successful, Professor Chenery says all doctors may be able to give the drugs to people before they develop any symptoms at all.
He adds: For these patients, this means “a potential cure.”
The family takes care of the two sisters
The professor says that the experiment could pave the way for treating other conditions associated with iron accumulation in the brain.
He adds: “If we can show in this case that reducing iron stops neuronal damage, it would not be impossible to suggest a similar approach that might be useful in Parkinson’s disease or Alzheimer’s disease.”
“I try not to think about it”
The trial of deferiprone holds out hope that an effective treatment may be possible.
Liz’s daughter, Penny, helps care for her family members but does not know if she has the disease.
“I try not to think about it,” she says. “If I think about it, I think it will come faster.”
Penny Taylor cares about her family members
Penny notes that she is worried about pinning hope on the success of the experiment, but stresses that it “would mean everything” to her and her family.
Heather’s husband, Stephen, agrees: “If the medication slows down the symptoms, that’s a win. They won’t get any worse. But if they can be treated, that would be wonderful, absolutely wonderful.”
He added, looking at his wife: “This means a lot, doesn’t it?”
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