A documentary about Celine Dion’s struggle with Stiff Person Syndrome has brought attention to a rare neurological illness called Stiff Person Syndrome (SPS). Just one or two people in a million are affected by this uncommon ailment, but for those who are, it can cause painful spasms, stiffness in the muscles, and rigidity.
Carrie Robinette from San Diego and Corwyn Wilkey from Anchorage, Alaska, two people who live with Stiff Person Syndrome, talked to Fox News Digital about their experiences.
The Odyssey Diagnostics
Mother and Navy wife Carrie Robinette had struggled for more than 15 years with a variety of health problems, from weariness and pain to more serious ailments like cancer. To be honest, Robinette said I was “always sick” from the day I was born. My high school years were marred by severe muscle tension and leg cramps due to Stiff Person Syndrome.
Then, in May 2023, Robinette’s world turned upside down with excruciating full-body spasms. What followed was a whirlwind of tests and specialist visits. “We realized that symptoms we previously blamed on other causes were likely early signs of stiff person syndrome.”
Daily Struggles
Robinette’s daily life is a rollercoaster of pain and unpredictability. “Even if my body is not actively spasming, it feels like my muscles are sore, even bruised — all day, every day,” she said. Some days are manageable; others, she needs a cane or walker and relies on a mobility chair for longer distances. “It is beyond frustrating to literally not know at the start of each day if it will be a good day or a bad day.”
Initial Symptoms
Corwyn Wilkey, a musician and father from Anchorage, first noticed spasms in his larynx while performing. Diagnosed in 2021 at the Mayo Clinic, his symptoms have progressed from throat and facial spasms to full-body seizures. “My initial symptoms were throat and facial spasms that have progressed into full-body seizures,” he recounted. Wilkey’s spasms can be so severe they dislocate or fracture bones.
Complex Diagnosis
James Chung, M.D., Ph.D., of Kyverna Therapeutics, explains that diagnosing SPS involves a detailed clinical evaluation, blood tests for antibodies, electromyography (EMG), and sometimes a lumbar puncture. “SPS is often a diagnosis of exclusion due to its rarity,” Chung said.
Limited Treatments
While there’s no cure for Stiff Person Syndrome, treatments focus on symptom management. Patients often use medications like diazepam and baclofen, and sometimes intravenous immunotherapies. “Pain management often involves a combination of medications,” said Chung. Robinette, however, battles her condition without effective medication, experiencing severe side effects from current treatments.
Emotional and Mental Cost
Wilkey and Robinette have both experienced serious emotional and mental difficulties. Wilkey battled pain, PTSD, and depression; as a result, he became addicted and attempted suicide. He is currently receiving psychedelic-assisted therapy for depression and PTSD while in hospice care. In addition, Robinette struggles with the psychological effects of her disease, frequently feeling let down by the medical establishment.
Who is at Risk?
SPS primarily affects women between 30 and 60 years old and is often associated with other autoimmune disorders.Chung pointed out that type 1 diabetes affects between 30% and 40% of SPS patients, emphasizing a genetic susceptibility to autoimmunity.
Proceeding Forward
Chung suggests establishing a strong support system and getting knowledge for people who are living with SPS. He underlined, “Be proactive in your treatment, work closely with a multidisciplinary medical team, and communicate openly with your health care providers.”
Navigating life with stiff person syndrome is a formidable challenge, but sharing stories like those of Robinette and Wilkey can foster understanding and support for others facing this rare condition.