This as-told-to essay is based on a conversation with Carrie Robinette, a patient advocate with Kyverna. It has been edited for length and clarity.
Next month, my husband, Jared, and I will pack up our San Diego home and move into an RV full time. It might sound like a retirement or digital-nomad dream, but it’s a choice we’ve been forced to make. We plan to travel the country and find a doctor who can help me get my life back.
I have stiff-person syndrome. It’s an autoimmune neurological disorder that is incredibly rare: Only about one in a million people have it. It’s been in the headlines more since the singer Celine Dion went public with her diagnosis.
I’ve only been living with symptoms for 15 months, but stiff-person syndrome has changed my life. I had to quit my job as a Department of Defense contractor and apply for state disability. I’m only 46, but I walk with a cane, and some days, it’s all I can do to take a shower. Other days, I can’t even handle that.
I can’t control my muscle spasms
Imagine having a charley horse in every muscle in your body. That’s what it’s like when I have a spasm. My body twists and contorts. My ankles cross together, which is especially painful because the bones rub on each other. Sometimes, my fist gets stuck driving into my face. Every pain receptor in my body is activated; it’s a 10 out of 10 on the pain scale.
Usually, these spasms last a few minutes, but sometimes they’re much longer. Recently, I had a spasm that lasted for two hours in the middle of the night. My spine was bent so far back that I looked like a C. I was in my head the whole time, reminding myself to keep breathing and trying not to panic. I was trying to keep some control, but the truth is I don’t have any.
At my worst, I was having spasms about six times each day. Now, I have them about three times each week.
I was traveling when I first experienced symptoms
My symptoms started last May when Jared and I were flying across the country. During our layover, I felt my whole body seize. The sensation passed within minutes. I had no idea what to do, but I didn’t want to be stranded in a random city, so I boarded my next flight.
I didn’t have any symptoms during the flight, but after I landed in Washington, DC, my whole body started tensing up involuntarily. It would last for a few seconds and then relax, only to start again. Jared took me to the emergency room at a small hospital, where the doctor recommended I get transferred to a larger neurology department.
I didn’t want to be in the hospital so far from home. Luckily, Jared was able to get us first-class tickets back to San Diego a few days later. I was discharged from the hospital and managed the flight. When we landed, we drove right to the emergency room.
A doctor recognized SPS when I had a spasm during an exam
I was in the hospital for two weeks as doctors tested me for multiple sclerosis, amyotrophic lateral sclerosis, Parkinson’s, and a host of other autoimmune and neurological disorders. When they couldn’t find a diagnosis, they told me my spasms must be caused by stress. It felt so dismissive to be told it was in my head.
I had follow-ups at every major teaching hospital in Southern California. In August, a neurologist mentioned SPS for the first time and said he thought that might be the cause, but I needed more testing before a diagnosis. Then, during a visit to a rheumatologist, I had a spasm while I was in the exam room. The doctor said: “I know what this is. This is stiff-person syndrome.” Unfortunately, since he wasn’t a neurologist, he wasn’t qualified to make an official diagnosis.
That summer, my symptoms turned my life upside down. The spasms could strike at any time. Sometimes they lasted minutes, but sometimes they lasted two hours. I lost strength and needed to use a wheelchair, walker, or cane every day, depending on how little strength I had that day. I was nauseous and constantly fatigued.
After those two doctors mentioned SPS, I joined online forums and social-media groups for people with the condition. It was amazing to see my experiences reflected in the lives of so many other people. Like me, they were using a cane to get around and largely bound to their homes.
I’ve had trouble accessing treatment
Despite the doctor’s declaration, I still haven’t received an official diagnosis. It’s as if no one wants to be the one to diagnose such a rare disease. Not all doctors agree on which biomarkers, like antibodies, need to be present to make the diagnosis. I’ve learned that it’s not uncommon for people with SPS to spend five, 10, or even 15 years trying to get a diagnosis. Doctors just keep telling me to repeat testing every six months until a definitive answer emerges.
“Diagnosing stiff-person syndrome is complex due to its rarity and mixed presentation of symptoms,” said Dr. Sham Dholakia, the business-unit head of rare diseases at Kyverna. “With only about one in a million people affected, many doctors may never encounter a case in their entire career.”
Dholakia said that while the symptoms can mimic more-common neurological disorders, “it’s clear that the disease is very debilitating and progressive,” adding that more awareness would help patients and providers.
I’ve never been chasing a diagnosis of stiff-person syndrome. But after a year of research and visiting more than 15 doctors, I’ve found it’s the one medical diagnosis that seems to fit.
Lacking definitive answers has made treatment incredibly hard. Doctors often tell me they aren’t comfortable prescribing medications like Valium and other painkillers that are used for SPS. I get the hesitancy to prescribe certain painkillers, especially opioids, but it’s incredibly frustrating not to have access to treatment.
Next month, Jared and I will set out in the RV. Our first stop is the University of Colorado, which is at the cutting edge of clinical trials for stiff-person syndrome. Friends with stiff-person syndrome have also suggested I visit the Mayo Clinic and a specialist in northern California.
I hope that I’ll find a doctor who recognizes my pain and can help me find relief. I’m also looking forward to seeing the country and checking things off my bucket list, which feels more important than ever. If I’m going to be housebound, I’m going to just bring my house with me and continue to fight for answers.
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