Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.
Stiff Person Syndrome (SPS) Advocates Respond to Celine Dion’s Claims in “I Am: Celine Dion”
An estimated 1 in every 10 people in the United States will be diagnosed with a rare disease. Worldwide, over 300 million people have rare diseases. So why are conversations about rare diseases—treatment options, diagnostic criteria, natural history, and how we can support those affected—not at the forefront of public discourse?
A general lack of awareness plays a role. Throughout my work at Patient Worthy, I’ve often heard: “You don’t know what you don’t know.” It’s hard for people to conceptualize the impact of a rare disease if they’ve never seen it or if they’ve never met someone affected. But bridging these gaps is necessary.
Here’s where celebrities (occasionally) come in. Given their broad public platform, celebrity outreach gets people to listen. Selma Blair and Christina Applegate have become essential voices in the multiple sclerosis space. Meanwhile, the baseball community has rallied behind sportswriter and podcaster Sarah Langs following her amyotrophic lateral sclerosis (ALS) diagnosis.
So when powerhouse singer Celine Dion announced the June 2024 release of a documentary following her experiences with stiff person syndrome (SPS), the SPS community was hopeful that it would spur conversation on the community’s needs. After all, story-sharing is powerful.
Yet the documentary became increasingly controversial. Released on June 25, 2024, “I Am: Celine Dion” is a love letter from Dion to her fans, thanking them as they follow along her journey. One compelling and frightening scene even shows Dion in the midst of a seizure.
But despite Dion’s mission to share her personal experience with this disease, the SPS community believes that parts of the documentary perpetuate harmful stereotypes or myths around SPS. As Angela Davis, an advocate who lives with stiff person syndrome, shares:
“Some of what we saw is a little discouraging. We’re most worried about how the documentary will impact people who are newly diagnosed because we want to make sure they are not doing damaging things to their bodies.”
Working alongside four other SPS patient advocates from around the world and five-time Emmy award-winning investigative journalist Kimberly Lohman Clapp, Angela is on a mission to fill the gaps from the documentary and set the record straight on SPS.
What is Stiff Person Syndrome (SPS)?
Stiff person syndrome is a rare, chronic, acquired neurological disorder characterized by progressive, fluctuating muscle rigidity and painful muscle spasms. The exact cause of SPS is unknown. Some scientists hypothesize that SPS could be an autoimmune disorder, as many people with SPS often have high levels of glutamic acid decarboxylase antibodies. However, shares Angela, this isn’t the case in every individual:
“If you have these antibodies, treatments are easier—you can get infusions. But 20% of people, me included, do not have these typical antibodies. This means our SPS is a more rare, insidious, and difficult-to-treat form. Treatment options are pretty nonexistent outside of high doses of diazepam.”
Looking back at Angela’s SPS journey, it’s clear that nothing about her condition fits into the confines of “normal” for SPS. Most people with SPS show signs of the disease between 30 to 60 years old. For Angela, her symptoms were present at birth. A specialist, she shares:
“Couldn’t believe how stiff I was. I was all balled up, totally rigid. My doctors were worried that I had cerebral palsy. Once they realized I could breathe, they figured they’d just loosen my limbs and that would be good enough. It wasn’t too long after that they realized my feet were pointed towards each other, so I also needed corrective shoes and corrective leg braces to align my legs.”
As Angela grew older, she couldn’t help this nagging feeling that something was “off” in her body. Her stomach frequently ached; her abdomen cramped. By the time she was eight years old, she complained so often about her muscles seizing that her father took her for testing. But the physician’s frustrated response still rings in her mind today:
“The physician looked me in the eyes and said, ‘You’re faking it.’ When I think about it now, it just shocks me to my core. My feet were malformed. I wore leg braces and corrective shoes. I had an unsteady neurological gait. Nobody had any answers for me. How could a kid be making that up? My medical PTSD began at a young age because of the lack of understanding I faced.”
Angela learned to keep quiet about her episodes, even when her muscles tightened painfully. Her family was a military family— “mind over matter” reigned supreme.
No matter what, she told herself, she would continue looking for answers.
Looking for Love…
In 1998, Angela sat down in a lecture for graduate school—and fell in love. She immediately clicked with the man sitting next to her, kickstarting a beautiful future.
But her health concerned her. And she didn’t know what the future would bring. Like many individuals with SPS, Angela experienced progressive muscle stiffness, worsening spasms, and sensitivity to touch and sound. Her pain worsened. Walking and moving helped, but she found her body increasingly rigid. Finally, she sat down with her now-husband for a serious discussion:
“I told him, ‘I don’t know what is going on here, but I’m giving you an out. This could be scary. I don’t want to drag you into this.’ His eyes filled with tears. He grabbed my hand and told me, ‘I love you and we’re in this together.’ And he has been a tremendous support for me over the last 26 years. He truly helps me keep my sanity through this.”
That’s not to say that there haven’t been challenges. Angela’s spasms have no specific trigger; this requires her and her husband to be constantly prepared with a wheelchair, walker, or rolling chair. Body-wide rigidity and episodic spasms contribute to falling out of bed while she sleeps. Sometimes, the spasms are so intense they’ve fractured bone.
Never Giving Up
But Angela kept her commitment to herself from childhood: she would never stop looking for answers. And neither would her husband. Through research and tenacity, Angela ended up at the UCLA Neuromuscular Clinic in 2014. She shares:
“I used a doctor’s connection and fundraised money to get there, but it was worth it. As soon as I got in, the physician took one look at me and said, ‘You’ve got SPS.’ I had originally thought I might have ALS, so I was completely floored. The diagnosis was later confirmed by Johns Hopkins, and I was started on higher-dose diazepam. Not much information was provided to me—I didn’t know that it was progressive, life-threatening, and incurable—but it did feel like a relief to have it solved.”
Despite a continued lack of understanding and awareness by physicians, Angela continues to push forward as an advocate, saying:
“Advocacy gives me pride and purpose. I was the first patient advocate to have digital health publications include SPS on their list of rare diseases. As long as I can reach one person, that means something to me. I may not be able to fix my personal disease, but I can keep pushing forward towards research, awareness, and hope. And I’ve already seen the difference that advocacy has made: it took me over 20 years to be diagnosed, but the diagnostic journey has significantly shrunk. People today are getting diagnosed in 2-3 years and getting earlier treatment. But the impact of advocacy in the SPS space expands much farther than my work. The SPS patient community coming together to raise awareness and share stories is the best way to improve knowledge in the medical community and push for research funding for effective treatments and cures—not a celebrity interview which, in time, will become less fascinating to the public.”
Angela recently spoke with her local NBC WXII 12 News and the brilliant crew of “The Local Vibe” about SPS. Watch the interview here.
Filling the Gaps in Dion’s Documentary
Celine Dion shared her SPS diagnosis in December 2022. Five months later, she canceled the remaining tours on her schedule to focus on her health. “I Am: Celine Dion” encompasses her experiences as she grapples with the life-changing diagnosis and works to get back on stage in front of her fans.
Prior to the documentary’s release, Dion spoke with broadcast journalist Hoda Kotb about stiff person syndrome; Angela and other advocates later participated in a panel discussion aimed to empower the media with more information on SPS. You can find the full panel discussion here.
Some of the issues present in the documentary, and in the conversations Dion was having, include a quote that says: “I either work hard like an athlete or I stay home like a recluse.” Says Angela, this either/or binary can be incredibly harmful:
“SPS is a progressive incurable disease. I’m losing the ability to walk. When Celine Dion talks about training like an athlete to overcome SPS, or that you can reverse symptoms through yoga and mindfulness, it’s difficult for the SPS community to hear. Many of us are too rigid to participate. I don’t know how she’s achieving it in this movie—clever editing, maybe—but if any one of us could lift our leg in the air like she showed, our foot and calf muscle would seize in excruciating, spasmodic pain. Neurologists actually don’t recommend working out with SPS because it can trigger a huge seizure.
Celine Dion also has an entire host of doctors and specialists who come to her. She has a completely different level of care than others with SPS. Most of us can’t even get our doctors to listen! There’s fear in the SPS community that, through this documentary, SPS will be misrepresented, and viewers will think, ‘Oh, you can bounce back from SPS.’ We realize that she’s trying to make a comeback, but this idea of physical capability is just not true. How can she say that she wants to give the SPS community hope when talking about things that are dangerous to do, or not being honest to the full breadth of patient experiences?”
As the patient advocates share in the second portion of their patient panel, the documentary also fails to discuss the need for increased research (and funding) around SPS. Neurologists have recently shared surprise over how fast SPS can progress. The SPS community would love to see deeper dives into why this occurs and how to increase mobility and decrease body-wide rigidity. Says Angela:
“It would be great to have the ability to move better and to get some semblance of life back. Working, going out, having relationships—SPS makes these all more difficult. By understanding the underlying mechanisms of this disease and finding ways to address it, we can improve quality-of-life.”
Another research focus that the SPS community feels is important: identifying more effective, targeted treatment options. But again, the documentary does not really bring up treatments, the push for treatments, or the funding needed to advance treatments in a clinical setting. Angela explains:
“Johns Hopkins Stiff Person Syndrome Center is the only SPS research center in the world and is looking into possible treatment options. If you want to contribute to research, donating to Johns Hopkins is the way to go. But treatment was not brought up in Celine’s documentary. How can you talk about reversing symptoms or giving people hope without talking about research? It takes so much money to fund research that sometimes it feels like contributing is a drop in a bucket. But we’re just trying to encourage people to keep helping.”
“We’re Still Here”
Celine Dion’s documentary gives an insider look into her life, her goals for her musical career, and the challenges of living with SPS. Yet patient advocates reinforce that more is needed for SPS awareness than this documentary. Says Angela:
“Stiff person syndrome is a one-in-a-million disease. The chance of neurologists seeing a patient with SPS is low, but finding someone who is well-versed in SPS is expensive and challenging. We so often see doctors as the experts, but mine usually don’t know about SPS. I tell them that we’ll help each other learn. This is what SPS advocates want to do: spread awareness for this disease that has no FDA-approved treatment or cure. Spread awareness for physician education. Spread awareness to let people know they aren’t alone. We are not lost causes. Nobody is a lost cause, especially in rare disease. We may not be celebrities, and we’re not trying to have a comeback, but we want to breathe and to move. We’re still here and we’re fighting everywhere we can along the way.”
If you have Stiff Person Syndrome and are searching for support, you are not alone. Consider reaching out to Bent Not Broken or checking out the Youtube channel Heart to Heart: Life with SPS for community, awareness, and SPS information.
