IT started with a Hunter grandmother’s hospital stay in the 1990s for routine surgery with a blood transfusion, and ended a year later with her death after a sudden and terrifying decline with dementia-like symptoms.
The legacy continues today, with some of her family considering genetic testing for the devastating and rare Creutzfeldt-Jakob Disease (CJD). Others are burdened with a family secret withheld from their children, in part because of public hysteria in the late 1990s about a CJD variant known as mad cow disease.
John and Sue are a Hunter brother and sister struggling to find answers about their mother’s death. They need to know if they carry a version of classical CJD, which accounts for up to 10 per cent of CJD cases, and can be passed from parent to child, or if their mother died of sporadic CJD which is not inherited. About 50 Australians are diagnosed with CJD each year.
For more than two decades John and Sue mistakenly believed their mother might have contracted CJD from the blood transfusion she received in a Hunter public hospital. It was only in the past few weeks they learnt her death pre-dated the first recorded case of the variant CJD transmitted by a blood transfusion – and not passed from parent to child – by at least four years. There have also been no such cases reported in Australia.
Genetic testing is now the only option available to find clues to the mystery behind their mother’s shocking death, after a Hunter neurologist in the 1990s pushed for an autopsy to prove his probable diagnosis that she died of CJD, and a Hunter public hospital pathologist refused because of the high risk of hospital staff contracting the disease.
“Are we carriers of the disease or not? If we are, then should we advise our children because they could be, no matter how small the probability, and then what do we say after all this time, when we don’t even know for sure if Mum died of CJD?” said John.
Sue suffered a form of post traumatic stress in 2016 after a series of tragic personal events led to flashbacks about caring for her mother at home, watching her decline from a vibrant, funny, social woman to someone who was alive, but groaned constantly like an animal in extraordinary pain.
“It has been many years since Mum passed away and I reached a point where I thought, am I going to die like that too? Have I got this in me? I’d go into the foetal position and groan,” Sue said.
Are we carriers of the disease or not? If we are, then should we advise our children because they could be, no matter how small the probability, and then what do we say after all this time, when we don’t even know for sure if Mum died of CJD.John, about the legacy issues of a rare disease.
The pain of her memories is exacerbated by the treatment of her mother by some hospital staff when the probable diagnosis of CJD – which could not be confirmed until after her death, if at all - became known.
“They couldn’t wait to get her out. She was treated like a leper,” said Sue.
CJD Support Group Network coordinator Suzanne Solvyns said the Hunter family is not the first to experience the legacy issues of a family member’s death of suspected CJD many years earlier, when autopsies were not routinely held because of lack of information about the disease.
“We do get calls from people who are stuck because they weren’t given information at that time, where there was only a probable diagnosis, and where the things that are in place to support families today just weren’t available,” said Mrs Solvyns.
Creutzfeldt-Jakob Disease is a rare and fatal degenerative brain disease in humans also known as a prion disease. The best known prion disease in animals is known as mad cow disease.
People diagnosed with CJD today routinely have blood tests taken, are placed on a registry maintained by the University of Melbourne, and family members can undergo genetic testing to determine if they have the form of CJD that is passed from parent to child, or if the family member died of the sporadic form of CJD which accounts for 90 per cent of cases.
Mrs Solvyns is supporting John and Sue to have their mother’s death listed on the registry as a suspected case, based on letters from a Hunter hospital in the 1990s describing CJD as the probable diagnosis.
“Once it’s on the registry the family can have genetic testing which will most likely show it is sporadic CJD which is not passed from parent to child,” Mrs Solvyns said.
The CJD Support Network can be reached on email@example.com or 1800 052 466.