Family Seeks Earlier CJD Diagnosis to Provide ‘Gift of Time’

“Suddenly she went from this full-time working mummy to somebody who couldn’t walk.” Michelle, aged 46, passed away from Creutzfeldt-Jakob disease (CJD) on 20 April last year. Her diagnosis with the fatal brain-wasting disorder had occurred only two months prior. Michelle’s family informed the BBC of their desire for earlier diagnosis upon the manifestation of symptoms, aiming to provide other affected families with the “gift of time.” During 2022, Michelle was in good health, residing in Bournemouth with her husband Lee and their nine-year-old daughter Connie, and was employed full-time by the NHS. Lee stated, “She wasn’t always necessarily the life and soul of the party, she was just very thoughtful, her family and friends meant a lot to her.” In October of that year, she developed a cough and began experiencing illness; by Christmas, her condition had worsened. According to Lee, “She started kind of losing her balance, started having tremors, particularly in her hands. Something just wasn’t quite right.” He mentioned that Michelle was “very tired a lot of the time” and spent the majority of Christmas Day sleeping. Helen, her mother-in-law, remarked, “I think that was the biggest surprise, that suddenly she went from this full-time working mummy to somebody who couldn’t walk.” Medical professionals faced difficulties in diagnosing her symptoms, only beginning to pinpoint the potential cause in February 2023. Lee recalled, “They said it could potentially be CJD.” He added, “We didn’t know what it was at the time, so we did the thing that you’d naturally do, we googled it.” He described Michelle as “petrified, she was so, so scared.” Creutzfeldt-Jakob disease (CJD) initially gained public attention in 1985, following the discovery of the first cattle case at a farm in Wiltshire. Bovine spongiform encephalopathy (BSE), commonly known as “mad cow disease,” was associated with the practice of providing cattle with an artificial protein derived from the remains of other animals. By the close of the 1980s, 4.4 million cattle had been culled. This developed into Britain’s most significant food scandal, transmitting to humans via contaminated beef and resulting in the deaths of nearly 200 individuals from Variant CJD (vCJD). Nevertheless, CJD can also manifest genetically, be acquired through tainted medical products, or, as observed in Michelle’s situation, arise without any identifiable cause. Prof Simon Mead, a consultant neurologist at University College London Hospitals NHS Foundation Trust, stated, “CJD, overall, affects about 130 to 150 people a year now and the vast majority of those people just get it out of the blue and we call that sporadic CJD.” Sporadic CJD occurs when healthy proteins within the human body, known as prions, spontaneously undergo a change in shape and accumulate in the brain. This is a rare and lethal condition leading to swift brain damage. Prof Mead, who is affiliated with the National Prion Clinic in London, explained, “Typically, CJD will result in death within around four to six months.” He noted that while some individuals might survive for over a year, and a small number for more than two years, “typically it’s very, very fast.” Connie, describing her mother as “just very kind, very lovable, very loving,” commented, “It just all happened too quickly. I didn’t really know much about it.” “It was so quick,” Lee remarked, further stating, “Whether it was her ability to speak, whether it was her ability to eat, her ability to stand up.” He continued, “It was heartbreaking because we knew what the outcome was going to be eventually at the end of that and there’s no timeframe.” Helen, Michelle’s mother-in-law, conveyed that the family offered support and “did as much as we could.” She elaborated, “When you watch your son and your grand-daughter crumble and you can’t take any pain away from them, you can’t make it better, you can’t just put a plaster on it and go ‘it’s going to be ok’.” The family aims to increase awareness of the condition, and Lee participated in the Brighton Marathon earlier this year in Michelle’s memory to raise funds for the CJD Support Network charity. Their objective is for medical professionals to provide earlier diagnoses, immediately upon symptom onset, to allow other families preparation time. Lee expressed, “We wish we’d done things where she could have written some letters, done some voice notes or anything we could have done to create some memories, particularly for Connie.” He concluded, “By the time it was 100% confirmed, it was too late to be able to do some of those things.”