MUSKEGO, WI — Doctors are trying to shine a light on a rare brain disorder. It’s commonly misdiagnosed, and when identified, it's often dismissed as a death sentence.
It's called Parkinson’s plus syndrome, also known as atypical Parkinson's, and it has no cure. However, neurologists say more must be done to raise awareness.
During their 48 years of marriage, Linda Raciti says if something was broken, her husband Sal could fix it.
“He's a perfectionist, so he fixed everything. So, he is my go-to man,” said Linda.
His longest-standing project is a 1940 Ford pick-up truck. He’s been restoring it for decades.
“It was in my mother's garage before we were married,” she recalled.
But in 2015, Sal began having dizzy spells and started tripping and falling. Multiple neurologists diagnosed him with early-onset Parkinson’s. But Linda wasn’t so sure.
“[With] Parkinson's you’re more, the shakiness, which he didn't have any of that; he had the dizziness," she said.
It turned out that Sal had progressive supranuclear palsy or PSP. It’s also known as Parkinson’s plus syndrome.
The rare brain disorder affects only 7 in 100,000 people. It causes serious problems with walking, balance, eye movements, and eventually, swallowing.
“The median survival for people with PSP is about seven years, and that is much, much, much shorter than someone who has Parkinson's disease,” said Dr. Jori Fleischer, an associate professor of neurological sciences at Rush University Medical Center in Chicago.
“People often cough something down the wrong pipe or aspirate, and they may not even feel that. And that can lead to a pneumonia and that can lead to someone's death,” explained Dr. Fleischer.
Fleischer says PSP is often misdiagnosed.
“It's called a Parkinson's Plus Syndrome or an atypical Parkinson's and that's because a lot of times people can present with symptoms that look like Parkinson's disease,” she said. “So, slowness, stiffness, occasionally a tremor.”
Early signs can include unexplained falls, especially backward, without the reflex to catch oneself, double vision, and trouble swallowing.
This week, CurePSP, a national network of two dozen care centers, released a landmark paper on best practices and standards of care for people with PSP.
“If someone says, ‘I think this person might have PSP,’ they can quickly go online and go, ‘Wait a minute. Here's this paper that covers all the symptoms, resources, how we support caregivers, how we talk about goals of care and advanced directives,’” said Dr. Fleischer.
For now, Sal continues to exercise every day for 50 minutes. Though it’s robbed him of so much, the disorder has not been able to steal his smile.
“And you try to make him laugh every day, you have to laugh. You know, if you don't laugh, you cry. So, you got to laugh, right,” said Linda.
But the deterioration of the cells in his brain has taken a toll.
“It's not good. He’ll just keep getting worse,” said Linda. “They get pneumonia and that's when things happen and the swelling gets worse and it's like, I can't even go there. You just make the best out of every day. He would do it for me, so I do it for him.”