Families Call for More Research into Progressive Supranuclear Palsy

Families of people with progressive supranuclear palsy have called for more research into the rare degenerative neurological condition after several loved ones were initially misdiagnosed. One caregiver described living with someone who has the condition as feeling like drowning at times.

The disease affects balance, movement, speech and vision. It affects about 5,000 people in the UK. Symptoms were first noticed in one case in September 2022 and initially attributed to menopause. The person received an initial dementia diagnosis in 2023 before being correctly diagnosed with progressive supranuclear palsy earlier this year after assessment by a consultant neurologist at Addenbrooke's Hospital in Cambridge.

The patient, a mother of two and former head receptionist, now requires round-the-clock care. The caregiver called the experience heart-breaking, emotionally draining and a complete rollercoaster. "It's a rare illness, it's hard to diagnose and easier to misdiagnose," the caregiver added.

Another patient was diagnosed with progressive supranuclear palsy in 2022 after symptoms were first mistaken for Parkinson's disease. The 77-year-old had moved to Norfolk in 2008 for retirement, where he volunteered as a fireman and station master on a heritage railway and led ramblers' walks.

The couple later relocated again to be near their daughters due to his ill-health. He remains able to talk but cannot walk unaided, uses a wheelchair and needs help with personal care. His daughter said her father had been active, curious and fiercely independent.

She described the situation as a life lost for both her father and her mother, who is now his full-time carer. The patient said he misses the retirement he had planned, which included travel and time with loved ones. He still enjoys looking at photographs from trips to India, Australia, New Zealand and the USA.