A woman who can sniff out Parkinson’s disease helps develop diagnostic tests for the disease

By Dr. Ananya Mandal, MDDec 18 2017

Joy Milne is a 67 year old retired nurse from Perth with smelling superpowers. She can smell and detect presence of Parkinson’s disease as has been seen under test conditions. This has led to the understanding of the disease better and helped develop new diagnostic tests to detect Parkinson’s disease early.

Parkinson’s disease

Parkinson's disease is a degenerative disease of the brain. It affects parts of the brain that are associated with normal movement and balance. This disease is caused by the loss of brain cells that produce dopamine. The area affected is called the substantia nigra. The symptoms appear only when around 80 per cent of the dopamine producing cells in the brain is destroyed. Exactly what causes Parkinson’s disease is unclear. Most experts think that a combination of genetic and environmental factors is responsible.

Parkinson’s disease affects one in 500 people in Britain with 127,000 people currently living with this condition. Nearly ten million people around the world are suffering from this disease. Till date diagnosis of the disease is primarily on the basis of the symptoms.

Smelling out the disease

Joy’s husband Les was suffering from Parkinson’s disease. He died of the disease a couple of years back at the age of 65. Les was a consultant anaesthetist who was diagnosed with the condition when he was 45. Mrs. Milne however said that she was detecting a different musky smell from his clothes and person years before the disease actually set in.

Researchers at Manchester University believed in her story and began investigating the seemingly impossible story. Joy met other people at the Parkinson's UK support group and found that she could identify the distinct smell. She was given t-shirts worn by people with Parkinson’s disease and those who did not. The latter acted as a control group. Joy identified the patients’ t-shirts accurately. Among the control group she identified a person with Parkinson’s disease. It was noted that within three months the person indeed was diagnosed with Parkinson’s disease.

Mrs. Milne says, “I'm in a tiny, tiny, branch of the population, somewhere between a dog and a human,” calling it “quite nice” to be able to smell better than other humans.

Her sense of smell has led researchers to detect specific molecules that could mean that a person may have Parkinson’s disease. This could also help detect those who may be diagnosed with the condition in future. At least 10 different molecules have been detected to be concentrated on the skin of the patients with Parkinson’s disease that give off the distinctive smell.

Dr Tilo Kunath, from Edinburgh University's school of biological sciences and Professor Perdita Barran, an expert in chemical analysis from Manchester University first got onto the science behind Joy’s ability. Both agree that this breakthrough that led them to find these distinctive molecules that could help in the diagnosis of the disease would not have happened without Joy.