There are thousands of rare diseases that affect over 400 million people globally, and there’s no debating that women are disproportionately impacted. For example, women comprise 80% of people affected by autoimmune conditions, according to 2023 research. Women also tend to be the leaders at the forefront of rare disease research and advocacy.
That was the focus of one of the SHE Media Co-Lab’s SXSW panels, entitled “Voices of Resilience: Women Leaders in the Rare Disease Community,” moderated by seasoned journalist Katie Couric. The guests included Tania Simoncelli, Vice President of Science in Society at the Chan Zuckerberg Initiative, Christina Miyake, MD, Director of the Cardiovascular Genetics Arrhythmia Program and Associate Professor at Baylor College of Medicine, Susan Dando, Executive Director of the Smith-Kingsmore Syndrome Foundation, and Tara Zier, Founder and CEO of the Stiff Person Syndrome Research Foundation. As both a patient of the rare, one-in-a-million condition stiff person syndrome since 2017 and a patient advocate, Zier has dual perspectives to share. (You may be familiar with stiff person syndrome from Celine Dion’s 2024 documentary, where she opened up about her experience with the condition.)
So what is stiff person syndrome, and what’s life with this rare disease like? Keep on scrolling for more of Zier’s story and what researchers still need to figure out about stiff person syndrome.
What is stiff person syndrome?
Stiff person syndrome (SPS) is a condition that causes progressive muscle stiffness and painful spasms, which can be triggered by sudden movements, cold temperatures, or unexpected loud noises. “I want to speak to the name. The name does not do this disease justice. It’s disabling. People can have muscle spasms so severe they break bones, dislocate joints, and result in life threatening breathing problems. People aren’t just stiff,” Zier explains. The disease affects twice as many women as men, and people often develop symptoms in their thirties and forties, according to the National Institute of Neurological Disorders and Stroke.
The exact cause of SPS remains unknown, but researchers suspect it may be an autoimmune reaction in the brain and spinal cord. In autoimmune conditions, the body’s immune system mistakenly attacks healthy tissues; in the case of SPS, it may target nerve cells that control muscle movement.
How does SPS affect your life?
On the panel, Zier shared her experience of misdiagnosis and dismissal of her symptoms over a three year period. Doctors tried to give her anxiety medication to help her “relax.” But by 2017, everything came to a head. “It got to the point in 2017 in March, I lost 30 pounds in a month. Every day I was standing on the scale, and I was dropping, and dropping, and dropping. I thought I was going to die,” Zier says. “I was a dentist. I couldn’t work anymore. I couldn’t drive. I couldn’t take care of myself. I couldn’t take care of my kids. I had to hire someone to live with us.”
Zier opened up about how her symptoms and sudden weight loss impacted her children, who had already lost a parent just a couple of years earlier when her husband passed away. “I couldn’t control it, and that seeing them so stressed and not having control over that was horrible,” she says. It wasn’t until she find one primary care doctor who listened to all of her symptoms and referred her to a local neurologist, who diagnosed her with SPS. “He ran the right test, and I landed at Johns Hopkins for my treatment,” Zier says. “And it was probably my third visit at Hopkins when my neurologist told me that they had recently applied for a grant for research at NIH, and they were denied the grant because there wasn’t enough research to support getting the grant.”
That’s when Zier sprung into action. “Two weeks later, we were on the news, raising awareness, and then I knew we needed to raise funds for research.” She started the Stiff Person Syndrome Research Foundation in 2019 with two main goals: “one, to support research for better treatments and a cure, and two, to show my children that no matter what hand you’re dealt in life, you can still make a difference for people.”
What are treatment options for SPS?
There is no cure for SPS, but some treatments can help manage symptoms and improve quality of life. Some of the main drugs used to treat it are muscle relaxants and anti-seizure medications for pain management, and people often supplement with physical therapy, myofascial release or massage therapy, and other therapies like acupuncture. To address the immune response, there are additionally a variety of immunotherapies that patients can be treated with, either orally, intravenously, or even via plasma exchange. Another key intervention is management of the anxiety and depression that often accompanies SPS, with treatments like SSRI medications and talk therapy like cognitive behavioral therapy (CBT).
Zier’s mission is to continue raising awareness and research funds to discover more about this rare condition, and also credits Celine Dion with helping publicize the symptoms. “So grateful for her—that was like worldwide awareness in a day,” Zier says. Rare diseases like this need not only the public’s eyes and ears on them, but the funding to support finding evidence-based ways to slow the disease progression and allow people to still live their lives to the fullest.