Debbie Ferlito had always lived an active life. There was nothing she loved more than throwing herself into athletics, than testing the limits of her body. And she was good at it: Ferlito seemed to be a natural born athlete. But in her 50s, she suddenly began experiencing sometimes debilitating balance problems.
According to The Villages Daily Sun, it took five years from the onset of Ferlito’s symptoms for her to find answers. At first, doctors felt that she had some lower back problems. But testing and attempted interventions brought no relief. Instead, Ferlito’s condition continued to decline.
A visit to a physical therapist changed everything. Certain that there was an underlying issue, the physical therapist referred Ferlito to the UF Health Shands Hospital for further review. Over the next 1.5 years, Ferlito underwent more tests than she could count. They knew that there were vestibular and neuropathic issues—but what was she actually struggling with? Was it genetic? The genetic test offered no insight.
Then, another referral: this time to the Mayo Clinic in Jacksonville. The doctors pored over the prior tests. Five months later, Ferlito received her official diagnosis of RFC1 CANVAS.
It certainly hasn’t made her life any easier. Ferlito still struggles with balance and sometimes falls, which precludes her from more active sports like pickleball or indoor volleyball. But her friends, family, and community have all rallied behind her. Now, Ferlito joins in on water volleyball and game nights.
But more than that, Ferlito hopes to give back to others and to show that they aren’t alone. She uses her voice on social media to raise RFC1 CANVAS awareness and to educate others about the impact of this rare condition.
RFC1 CANVAS: What We Know So Far
CANVAS stands for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. This late-onset neurological disorder, which typically occurs in people over 50 years old, causes significant issues with balance and coordination. While CANVAS was first described in medical literature in 2004, the RFC1 gene mutation—which leads to RFC1 CANVAS—was only discovered in 2019, making RFC1 CANVAS a novel genetic disease as of 4 years ago. RFC1 CANVAS affects an estimated 1 in every 10,000,000 people.
People with RFC1 CANVAS show signs and symptoms of cerebellar ataxia (a problem with muscle control or coordination), neuropathy (nerve issues), and vestibular areflexia (a lack of reflexes in your vestibular system). From the cases researchers have seen thus far, they have identified the following as potential symptoms of RFC1 CANVAS:
- Changes in, or problems with, gait
- Chronic cough
- Slow or slurred speech
- Muscle weakness, numbness, or pain in the hands and feet
- Dry mouth or eyes
- Blurred vision when the head moves
- Feeling dizzy or lightheaded when you sit or stand up
- Nystagmus (rapid and involuntary eye movements)
- Dysphagia (difficulty swallowing)
- Issues with balance, coordination, and fine motor control
- Allodynia (pain due to stimuli that don’t usually cause pain)
- Erectile dysfunction
- Constipation
Those affected often require mobility aids within 10 years of diagnosis; Ferlito often uses trekking poles, golf carts, and an electric assist tricycle to get around. Outside of these means, managing RCF1 CANVAS requires a varied approach since there are no disease-specific treatments or cures. This condition may be managed through diet and nutritional changes, speech-language pathology, vestibular rehabilitation, occupational therapy, or physiotherapy.
Learn more about RFC1 CANVAS here.
