Sisters trapped in their bodies: Can’t speak, communicate only with their eyes

Everything started with the pain they felt in their hands. Two women can no longer talk or walk. While women with the disease, which is confused with Parkinson’s or Huntington’s diseases, communicate only with their eyes, their spouses explain the situation as “It is frustrating to live in this shell.”

Liz Taylor was a healthy 38-year-old woman when she learned she would lose the ability to walk, talk and even eat.

He went to the doctor because of the pain in his hands, and after weeks of tests, experts in the city of Newcastle said he had a neurological disease and there was no cure.

“I remember her running upstairs to the house crying,” says her daughter Penny, who is also 38 now.
According to the BBC, Liz’s husband James, who is 62 years old today, also had to helplessly watch his wife’s health deteriorate. Liz, 59, is trapped in her own body. His brain works completely normal, but James can communicate with his wife simply by reading the expression in her eyes. In the years after Liz’s diagnosis, the family was rocked by equally devastating news.

Because all three of Liz’s sisters were diagnosed with the same diagnosis. No one in the family, who lives in Rochdale near Manchester, had any idea about the genetic disease. Scientists believe there are around 100 people in the world with this disease, and the majority of these people come from a family living in the Cumbria region in north-west England. Experts have determined that Neuroferritinopathy, which is often confused with Parkinson’s or Huntington’s diseases, is actually another disease and is caused by iron accumulation in the brain. They discovered that iron entering the brain as a result of a genetic defect does not come out.

“LIVING IN A SHELL”

A study at Cambridge University aims to stop, reverse, and even completely cure some patients the progression of this disease, which occurs with iron accumulation in the brain, by using a known drug in a different way. The study offers a glimmer of hope for Liz and her sisters. One of these sisters is 61-year-old Heather Gartside. Stephen, 59, also says that his wife can understand everything going on around her, but cannot communicate.

He can barely move anymore and can’t talk. “We had seen Liz’s condition deteriorate and knew it would change her entire life,” says Stephen, who cares for his wife. Heather was also diagnosed with neuroferritinopathy. James asks his wife if she can find words to describe how difficult what they’re going through is, but Liz can’t answer. James looks at Liz and says, “It must be frustrating living in this shell.”

One of the ancestors of those with the disease may have been Fletcher Christian, leader of the mutiny that broke out on the British naval ship Bounty in 1789. The neuroferritinopathy disease was discovered when doctors in Newcastle noticed an increase in the number of patients coming from the Cumbria region. Professor John Burn of Newcastle University, for whom the disease is named, found that almost all known cases are likely to come from the same lineage. The disease was traced to families surnamed Fletcher who lived in the Cockermouth area of ​​Cumbria in the 18th century. It was even investigated whether the disease was related to Fletcher Christian, who led the mutiny on the navy ship Bounty in April 1789, but no clear evidence was found.

“POSSIBLE TREATMENT”

Nearly 25 years after the disease was identified, Patrick Chinerry, professor of neurology at the University of Cambridge, hopes to see whether an approved drug called deferiprone can “clear the accumulated iron in the brain.” Chinerry aims to stop the disease after a one-year experiment: “Brain scans show where iron is collected in the brain. This place is clear in people with this genetic inheritance. It can take 40 years for the symptoms to manifest themselves.”

“After 10 years of symptoms, excess iron begins to damage the brain itself and supporting tissues are destroyed. Our first goal is to stop the disease, and this may reverse some of the problems,” says Chinnery. The trial was approved by the Medicines and Healthcare products Regulatory Agency (MHRA) in February. A charity organization also provided budget support of 750 thousand pounds. Prof. Chinnery emphasizes that if the trial is successful, doctors could start using the drug before symptoms develop and it could be a “potential treatment” for these patients.

Chinerry emphasizes that it may also pave the way for treating other diseases caused by iron accumulation in the brain.
“If we can reduce the damage caused by iron accumulation to nerve cells in this disease, it would not be too extreme to suggest a similar approach in treating Parkinson’s or Alzheimer’s diseases.”

“I’M TRYING NOT TO THINK”

The deferiprone trial brings hope where there was no hope for an effective treatment. Liz’s daughter Penny doesn’t know if she has the disease, even though she helps care for many people in her family. “I try not to think about it. I think if you think too much, you’ll get caught quicker.”

He says he worries about getting his hopes up for the trial’s success, but emphasizes that it “means everything to his family.”

Heather’s husband, Stephen, agrees. “If it slows down, that’s a win. It’s not going to get worse. If it cures it completely, it would be a great, really great thing.” He looked at his wife and said, “It would mean a lot, wouldn’t it?” says.