ICU – “I See You” Podcast
CANVAS
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In this episode of the ICU podcast, we’re exploring CANVAS—short for cerebellar ataxia, neuropathy, and vestibular areflexia syndrome—a rare, progressive neurological condition that disrupts the very systems our bodies rely on to stay balanced and oriented. CANVAS affects the cerebellum, sensory nerves, and the inner ear balance system simultaneously, creating a “triple hit” that can lead to unsteadiness, dizziness, changes in vision with head movement, and worsening coordination over time. Although researchers have only recently begun to understand its genetic cause, much remains unknown about how it develops and how best to manage it. Celeste Suart, Patient Engagement Director at the National Ataxia Foundation, and Denise Luken, who is living with CANVAS, share both the clinical perspective and the lived experience of navigating this complex and often misunderstood condition.
Guests
Celeste Suart, PhD, is the Patient Engagement Director for the National Ataxia Foundation. She earned her PhD in biochemistry at McMaster University, where her research focused on Ataxia, science communication, and adult education. Celeste leads the development of various patient-facing research communications, educational materials, and informational webinars. She also acts as a liaison between NAF, researchers, clinicians, industry professionals, and the ataxia community. Celeste strongly believes in the empowering nature of education. She is committed to supporting the agency of Ataxians and their families through access to research information and opportunities.
Denise Luken lives with her wonderful, devoted husband of almost 25 years, Bill, and their two dogs in North Carolina. Life was pretty typical for Denise. Marriage, two children, and a career in Information Technology. Horseback riding, tennis, skiing, jogging, and walking her dogs were loved activities… that was, until her early 50’s, when she fell in the street while walking her dogs and decided she needed to see a doctor. Other symptoms that started a few years earlier were losing her balance at night and coughing fits. It took several months and many MRIs, blood tests, and other tests to finally be diagnosed with Ataxia, but it was considered idiopathic. Not until 3 years ago did she have Ataxia. Finally, after testing the RFC1 gene for mutated repeats, she found out she had RFC1 CANVAS. Now in her mid-sixties, Denise works out three times a week on her Aeropilates rebounder and rower, and practices balance skills she learned in physical therapy. She uses either a cane or a rollator to walk outside her home. She hopes to keep healthy and help her body mitigate the effects of CANVAS.
When Symptoms Don’t Add Up: Understanding CANVAS Through Lived Experience and Clinical Insight
In this ICU podcast episode, listeners are invited into a deep dive on CANVAS—Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome—a rare, progressive neurological condition only recently understood at the genetic level. Through Denise’s lived experience and Celeste’s clinical and research‑based perspective, the conversation weaves together the emotional, practical, and scientific threads of a condition that for years left many patients without answers.
The episode highlights how unexplained coughing, progressive imbalance, neuropathy, and vestibular dysfunction can intersect in a way that is both confusing and profoundly life‑altering. It also underscores how education, advocacy, and peer support can transform isolation into connection and fear into agency.
Denise’s Story: From Mysterious Cough to Life with a Name
Denise’s journey with CANVAS began long before she knew the term. Looking back, she can now see that her first symptom emerged in her late 30s: a sporadic, unexplained cough, especially when eating. She attributed it to stress and kept going. For roughly a decade, that cough was the only hint that something deeper might be wrong.
In her mid‑to‑late 40s, more noticeable changes appeared. A regular jogger, Denise started to feel “off” when she ran. Her balance wasn’t quite right, her feet didn’t go where she meant them to, and she fatigued more easily. These were troubling but still vague signs—easy to rationalize or minimize.
Then came a moment she will never forget. One evening at dusk, she went upstairs in her home without turning on the lights, confident she knew the layout by heart. Halfway there, it suddenly felt like she was on a tilting ship. She veered to the side and had to move hand‑over‑hand along the wall just to reach the light switch. Sitting there afterward, she was shaken. Something was clearly wrong.
From that point forward, walking in the dark became impossible. After dinners or movies, she would cling to her husband’s arm to make it to the car. This went on for four or five years before another turning point: while walking her dogs alone, she fell in the street when her foot seemed to misstep out from under her. In her early 50s, that fall finally pushed her to seek a neurological evaluation.
Her first neurology appointment was disappointing—she was simply told to stop eating wheat, with no meaningful explanation or follow‑up. Discouraged, she didn’t pursue further care until her walking worsened significantly. By her mid‑50s, she noticed she couldn’t walk and turn her head to speak to someone without risking a fall. Everyday activities at work, like walking to meetings or moving near colleagues, became fraught.
A second neurologist took her concerns seriously and initiated an exhaustive seven‑month workup:
- Five MRIs (brain, cervical spine, thoracic spine, lumbar spine)
- Nerve conduction studies showed neuropathy in one leg
- Vestibular testing through an ENT
- Around 30 blood tests to rule out conditions like Lyme disease and lead poisoning
She was eventually diagnosed with ataxia, but genetic panel testing available at the time came back negative. She was labeled idiopathic—a term that essentially meant “we know something is wrong, but we don’t know why.”
It wasn’t until several years later, as clinicians began to use new tests to detect RFC1 gene repeat expansions, that the pieces finally came together. Denise was referred to a movement disorders center at UNC Chapel Hill, where a neurologist and genetic counselor listened carefully to her full history. The chronic cough—present for years before her balance issues—was the key clue. Her blood was sent to the University of Chicago, one of the few labs at that time equipped to test for RFC1 expansions. The result: a confirmed diagnosis of CANVAS, received only about two years ago.
For Denise, having a name for her condition is both validating and bittersweet. She is the only person in a very large extended family with the disease, even though CANVAS is recessively inherited. None of her brothers or dozens of cousins appear to be affected, which makes her experience feel strangely singular.
Day to day, Denise now lives with constant dizziness, progressive balance difficulties, and nystagmus that makes reading and media viewing challenging. She uses a cane indoors at times and a rollator outside, and continues to have intermittent coughing and occasional choking episodes.
Yet she consistently returns to what she can do. She maintains a routine of physical therapy exercises several times a week, focusing on balance, gaze stabilization, and neuroplasticity—training her brain to compensate where it can. She works out with Pilates and rowing three times a week, keeps her muscles engaged to offset stiffness, and stays active in household tasks like laundry and dishes.
Emotionally, she acknowledges that the progression of CANVAS, layered on top of aging, can feel like “an added burden.” She has turned to stoicism as a philosophical anchor, reminding herself that no one is promised an easy path, and that suffering can also deepen compassion and perspective. Her illness has made her more empathetic toward others living with invisible or chronic conditions.
Family support is central. Her husband is a steady, patient partner; her adult children are attentive without being overbearing, stepping in to help when needed. Recently, she overcame a nine‑year gap in air travel by asking for wheelchair assistance at the airport and renting an electric scooter on arrival. This allowed her to fully participate in outings with her son—rolling along Atlanta’s BeltLine, visiting restaurants with accessible entries—and rekindled her hopes of future trips abroad.
Her message to others who recognize pieces of themselves in her story is pragmatic but hopeful:
- Seek out specialized care from clinicians who understand ataxia and CANVAS.
- Use supports—canes, rollators, wheelchairs, scooters—not as symbols of loss, but as tools that expand what’s possible.
- Remember that there is still joy, purpose, and connection to be found, even on an uncertain path.
Celeste’s Perspective: What CANVAS Is, and Why It’s So Often Missed
From Celeste’s clinical and research vantage point, CANVAS is best understood by unpacking its name:
- Cerebellar Ataxia (CA)
This involves incoordination and unsteady gait, but it’s not just about walking. The cerebellum also coordinates fine motor tasks and the muscles used for speech and swallowing. People may struggle with handwriting, buttoning, articulation, or safely managing food and drink. - Neuropathy (N)
The nerves responsible for sensing touch, pressure, temperature, and pain are affected. Some people become over‑sensitive, feeling extreme cold or heat in ordinary environments; others lose sensation, risking burns or injuries they don’t fully feel. Neuropathy can also involve significant pain for some patients. - Vestibular Areflexia (VAS)
The inner ear balance system is impaired, particularly the vestibulo‑ocular reflex, which stabilizes vision when the head moves. Without it, vision becomes bouncy or blurry—a sensation one patient called “blouncy.” This is especially disruptive during walking, running, turning the head, or navigating low‑light environments.
When RFC1‑related CANVAS was first defined in 2019, the earliest described patients had all three components. Now, as more people are tested, clinicians are recognizing a spectrum: some have only one or two of the clusters, leading to terms like “RFC1 ataxia” or “RFC1 spectrum disorder.”
Celeste emphasizes that misdiagnosis is the rule, not the exception. People with CANVAS are frequently first told they have multiple sclerosis, Parkinson’s disease, or nonspecific “idiopathic” ataxia. The diagnostic pathway is often one of exclusion—ruling out more familiar conditions until someone recognizes the CANVAS pattern or orders RFC1 testing.
A standout hallmark is the chronic, unexplained cough, which typically appears 10–20 years before other symptoms. Researchers still don’t fully understand why this cough occurs at a physiological level, but it has emerged as one of the most consistent features across CANVAS cases. Many patients spend years seeing pulmonologists and undergoing respiratory testing before anyone suspects a neurological cause.
Technically, RFC1 testing is also challenging. The disease‑causing mutation involves repeat expansions in the gene that are structurally difficult to capture with standard DNA sequencing methods. Early genetic panels often produced false negatives—the technology essentially skipped over the problem area. For a time, only a single U.S. lab (at the University of Chicago) could reliably test for RFC1 expansions. Though more labs can now perform this testing, Celeste notes that access and awareness are still uneven, contributing to delays in diagnosis.
When it comes to management, Celeste is clear: there is no CANVAS‑specific drug yet, but there is a broad ecosystem of symptom‑focused care that can significantly improve quality of life. She organizes it by provider type:
- Occupational therapists help with home safety, fall prevention, and adaptive tools—from grab bars and non‑slip surfaces to devices that support fine motor tasks and computer use.
- Physical therapists guide strength and balance training, helping patients build compensatory strategies.
- Speech‑language pathologists address speech clarity and swallowing safety, crucial for those with choking or aspiration risk.
- Nutritionists help ensure adequate nutrition when chewing or swallowing is difficult.
- Pulmonologists and respiratory therapists evaluate chronic cough and sleep issues, including sleep apnea, and may prescribe devices like CPAP.
- Neurologists coordinate overall care, prescribe symptomatic medications when appropriate, and connect patients to allied professionals.
- Genetic counselors help individuals and families understand recessive inheritance, talk through carrier status, and consider implications for children and grandchildren, even as population‑level data are still emerging.
Celeste also highlights the role of patient advocacy organizations. The National Ataxia Foundation offers:
- A dedicated CANVAS information page
- Webinars featuring the researchers who first described RFC1‑related disease
- Research updates and study opportunities
- A free virtual “Let’s Move” exercise program
- Local and demographic‑specific support groups
Her advice to those who are newly diagnosed or suspect they may have CANVAS is threefold: educate, advocate, and connect. She encourages patients to use reputable resources (like NAF and VeDA), bring printed materials to appointments to help educate clinicians, seek out specialists recommended by advocacy organizations, and lean into peer communities where others “get it” in a way few outsiders can.
A Shared Message: You’re Not Alone, and Your Story Matters
Taken together, Denise and Celeste offer a layered portrait of CANVAS: a condition that often begins with something as mundane as a cough, slowly steals balance and clarity of movement, and yet can also catalyze deeper empathy, creativity, and community.
Their combined perspectives affirm that while answers may come late, they are possible; that while the path is uncertain, meaningful adaptation and rich experiences are still within reach; and that in a landscape where many symptoms are invisible, being truly seen and understood—by clinicians, advocates, and fellow patients—can be one of the most powerful forms of medicine.
