John’s sister Diana inherited the gene that causes GSS (Image: John Camidge)
A man who lost five members of his family to a lethal brain disorder is appealing for urgent help to raise the money needed to find a cure. John Camidge’s grandmother, mother, sister and two uncles died of inherited Gerstmann-Straussler-Scheinker disease (GSS). They all had a gene mutation that led to proteins misfolding in their brains, causing progressive symptoms including problems with speech, movement and balance.
John, 60, said: “It has devastated the family. These loved ones passed away through no fault of their own, it’s just unlucky. My mother was one of four siblings — three died from the illness.” GSS is a rare, fatal disease that occurs when prion proteins become misshapen and spread, leading to the death of brain cells. It came to light in John’s family when his grandmother died in the 1970s.
His mother died in 1980 when he was just 13, followed by his uncles in 1975 and 1997. John, of Wokingham, Berkshire, said: “The one that really hit me was my sister, Diana. She unfortunately inherited the gene and passed away in 2016.
“What you tend to find is some illnesses go quickly and some go really, really slowly. My mother was about two and a half, three years from diagnosis to death.”
Diana began losing weight, becoming clumsy and struggling to follow conversations in early 2016. Her speech grew slurred and she experienced brain fog, mood swings and anxiety.
The diagnosis was confirmed in April of that year. Her disease progressed rapidly. Diana suffered from difficulty swallowing, seizures and pain in the month before her death on September 4.
She died peacefully aged 46 — the same age as her mother — with her older brother John and her best friend by her side.
A person with the GSS mutation has a 50% chance of passing it on. John had a test in 2005 and discovered he had not inherited it, but it was too late for him to have children.
He said: “I didn’t want to bring children into this world with the illness. It really dictates how you live your life.”
There are no cures for prion diseases, which are thought to cause up to 150 UK deaths per year. The most common form is Creutzfeldt-Jakob disease.
A type called variant CJD is the human form of mad cow disease which caused a scare in the 1990s when people were found to have contracted it from contaminated beef.
However, scientists believe a cure may finally be within reach. A small trial of a world-first treatment reported “very encouraging” results four years ago.
Six CJD patients at University College London Hospitals NHS Foundation Trust were treated with a drug called PRN100. The study showed it was safe and able to access the brain.
Disease progression appeared to stabilise in three patients when dosing levels were in the target range, however larger trials are needed to determine whether the treatment is effective.
John has raised £60,000 after launching a foundation in Diana’s memory (Image: John Camidge)
Campaigners say further development of the drug could also have benefits for patients with Parkinson’s and Alzheimer’s disease.
John, who has struggled with survivor’s guilt, is now fundraising director for the Cure CJD campaign. The charity is trying to raise £10million for the next phase of PRN100’s testing. He has raised £60,000 through the Diana Camidge Foundation in memory of his sister.
John said: “It feels frustrating. We are close but we just need £10m to fund the trial. If it could be funded through government, fantastic, but we all understand that money’s short.
“If not, we’re hoping that there’s a donor, somebody out there that can help us, or pharmaceutical companies that can help us run the trial.”
The charity hosted an event in Parliament earlier this month to highlight the urgent need for funding. Professor John Collinge, director of UCL’s MRC Prion Unit, said: “CJD and other prion diseases are relatively rare, but devastating, causes of dementia.
“They are invariably fatal, usually in a few months from diagnosis, with no treatment at present. But there is now a unique opportunity.
“After over two decades of world-leading scientific research, PRN100, a groundbreaking antibody treatment that has shown extremely promising early-stage results in patients with CJD, could now make a cure possible.
“With the scientific and clinical expertise in place and the regulatory environment clear, all that is stopping us progressing is the financial commitment to carry PRN100 through to full clinical trials”.
