The need for more research into a rare disease that halted the career of Céline Dion is a main thread in a new documentary about the music superstar’s painful journey, which, thanks largely to the University of Colorado Anschutz Medical Campus and a new philanthropic gift, has taken a turn toward “a very bright future.”

Premiering June 25 on Prime, “I Am: Céline Dion” chronicles the singer’s struggle with the debilitating neurological disease called stiff person syndrome (SPS). Amanda Piquet, MD, associate professor of neurology and director of the autoimmune neurology program at the University of Colorado School of Medicine, and her team are working tirelessly with Dion to overcome this rare, chronic and progressive autoimmune neurologic disease, which currently has no cure. SPS is characterized by muscle stiffness, painful spasms and difficulty walking.

Piquet, whose team is conducting groundbreaking research on autoimmune neurologic disorders, has treated the Canadian singer’s SPS for two years at UCHealth University of Colorado Hospital. She is the inaugural Céline Dion Foundation Endowed Chair in Autoimmune Neurology, made possible by a $2 million philanthropic investment from the Céline Dion Foundation.

Piquet said the foundation’s gift represents a turning point in the understanding of SPS and other autoimmune neurologic diseases.

New treatment trials on horizon

“This is just the start of a very bright future for those with the disease,” she said. “Number one, it’s going to bring public awareness. With public awareness, we understand and diagnose this better. … This is going to be highly impactful for stiff person syndrome as well as other autoimmune neurologic disorders.”

Piquet said the philanthropic investment will help support more large-scale epidemiological studies, which are already showing that SPS is not as rare as initially thought. First identified in the 1950s, SPS is estimated to affect around one in 1 million people; new studies at CU Anschutz have found a prevalence rate of approximately two in 100,000. Piquet noted that improved recognition of the disease and the support of this philanthropic gift will ultimately lead to innovative treatment trials.

The gift will expedite research discoveries. Specifically, over five years it will:

• Support the new endowed chair and her efforts to expand research and develop a deeper understanding of SPS and other rare autoimmune neurological disorders;
• Expand CU Anschutz’s autoimmune neurologic disease registry and biorepository, increasing the volume of data to propose effective shifts to the care for people experiencing SPS; and
• More quickly identify the patterns in symptoms people are experiencing to diagnose the disease earlier and provide solutions that will lead to a better quality of life for patients.

Amanda Piquet, MD, the inaugural Céline Dion Foundation Endowed Chair in Autoimmune Neurology.

New data will provide more insights into the underlying pathophysiology and triggers of SPS, leading to improved therapeutic approaches, according to Piquet. “We’ll have those blood and spinal fluid samples where we can then look at immune profiling and other markers of immune dysfunction.”

The disease is currently managed through a two-pronged approach of symptomatic and immune therapies. A first-line immunotherapy is IVIg, or intravenous immunoglobulin, but better therapeutics and more clinical trials are needed, Piquet said. Symptomatic therapies include muscle relaxers and anti-spasmodic agents as well as nonpharmacologic approaches such as massage therapy and hydrotherapy.

‘Diagnostic odyssey’

“There is a lot of anxiety and phobias that we can see with this disease,” she said. “I’ve had some patients work with a trauma therapist.”

Stress and trauma, meanwhile, are common in SPS patients long before diagnosis. Because the disease is so difficult to pinpoint, patients often “end up on this diagnostic odyssey” that can drag on for over five years, Piquet said. SPS is frequently misdiagnosed as multiple sclerosis (MS), fibromyalgia or as a psychiatric disease, “which can be devastating. And then patients end up with trauma from the medical system – just getting misdiagnosed and passed around for years.”

Dion announced her SPS diagnosis in December 2022 on an Instagram video, describing “severe and persistent muscle spasms” that forced her to cancel an upcoming tour. The documentary goes into more detail about Dion’s condition, but in an interview ahead of the film’s release, Piquet noted that Dion “is improved and overall making progress.”

While it remains unclear as to whether the singer will be able to perform again, she continues doing everything possible to reach that goal. In a recent interview with Vogue France, Dion said, “I hope that we find a miracle, a way to cure it with scientific research. But for now I have to learn to live with it.”

SPS disproportionately affects women – with about 60% to 70% of cases being in women – and the median age of onset is 50.

The disease is typically progressive, though it affects each patient differently, and it can be life-threatening if left untreated. “It can be very disabling,” Piquet said. “I think sometimes part of that might just be due to how long patients suffered from symptoms before they were put on immune therapy. We don’t have good studies saying patients that were initiated on therapy early have less disability.”

‘Curing more autoimmune neurologic diseases’

She emphasized that those answers will emerge from more research, data and clinical trials. CU Anschutz is one of only a few health science campuses in the nation focused on SPS research.

Piquet said she always wanted to study neurology because “I love the brain – it’s so complex. I worked in brain injury rehab when I was an undergrad, and that really drew me to the patients.”

"And once we cure SPS, I think we’re going to be on the road to curing more autoimmune neurologic diseases …” – Amanda Piquet, MD

Now, with one of the world’s most celebrated singers as both a patient and generous contributor toward unraveling the mystery of SPS, Piquet is more driven than ever.

“We need better therapies for patients,” she said. “Ultimately, what we’d love is a cure. And once we cure SPS, I think we’re going to be on the road to curing more autoimmune neurologic diseases, because fundamentally it is understanding the immune system’s impact on the nervous system. But, in the meantime, we need better therapies.”