Written by Meghan Bayer
Stiff Person Syndrome Spectrum Disorder (SPSD) is an acquired, progressive, neurological spectrum disorder with features of an autoimmune disease that is believed to affect one to two in a million people between the ages of 30 and 60. In writing this article, I reached out to a friend of mine who also has SPSD. For both of us, it began in childhood, which is an extremely uncommon time for SPSD to develop. However, we are both in that 5% of the one-in-a-million people affected by this disease struck as kids. In the rare disease space, SPSD tends to be under-represented, but with 10,000+ known rare diseases and fewer than 95% of those diseases having an FDA-approved treatment, researchers have their hands full! We are fortunate though, because research into SPSD is being conducted at major medical centers across the United States and other countries worldwide.
Symptoms of SPSD include: severe muscle spasms, muscle rigidity, hyperlordosis of the lumbar spine, scoliosis, spasticity of the extremities, hyperreflexia, anxiety, agoraphobia, frequent falls due to impaired reflexes, impaired ability to speak, impaired ability to swallow, an exaggerated startle reflex, muscle contractures, muscle spasms that increase with extreme emotion, fatigue, organ dysfunction/spasms, and the presence of high titer GAD65, glycine receptor, and/or amphiphysin autoantibodies in the blood and/or cerebrospinal fluid (CSF). This list is by no means exhaustive! SPSD is often accompanied by a “parade” of autoimmune diseases that may precede or follow a diagnosis including Type 1 diabetes, vitiligo, and pernicious anemia (or a Vitamin B12 deficiency).
When I asked my friend what he wanted the world to know about SPSD for International SPS Awareness Day, he responded with “That’s a thing?”
“March 15th every year,” I replied.
Our conversation continued and he shared with me that he had no idea that such an awareness day has existed for years now, and he wondered how many people with our disease did not know either! SPSD is nicknamed the “tin man disease,” but when my friend responded, he said the “tin can disease.” Close enough! After all, we are kind of like “crushed tin cans.” In his case, his muscles in his hip have contracted up into his ribs, almost folding him in half. My feet and ankles are not faring much better, as they have stiffened so severely. It has resulted in dislocated ankles, shortened calf muscles and tendons— essentially paralyzing my feet, ankles, and toes. A “crushed tin can” is probably not so inaccurate after all!
Permanent damage to joints and the spine like what we live with is the result of a long diagnostic odyssey, which takes an average of seven years to correctly diagnose for many patients. Many individuals that develop SPS in childhood are not properly diagnosed or treated until adulthood. For reasons still not fully understood, individuals that develop the disease in childhood tend to be more aggressively impacted, even though researchers believe that the pathophysiology is the same in both adults and children. A diagnosis of SPSD is often made based off clinical presentation, symptoms, electromyography (EMG), and presence of high titer GAD65, glycine receptor, and/or amphiphysin autoantibodies in the blood and/or cerebrospinal fluid (CSF).
For many patients, there is an initial relief to finally have a diagnosis after often being told for years that our symptoms are “all in our head,” a conversion disorder, malingering, or drug seeking. However, when patients find out how limited and ineffective treatment options can be, depression may follow when they realize that they are likely not going to get the life they once had back again. I remember lying in bed at my local children’s hospital and looking out onto the city. Even though I was not yet diagnosed, as I laid there, I knew that life as I knew it was going to be different. There would be no flat feet for Christmas that year. I would be trading my flat feet for a custom wheelchair. Similarly, my friend also uses a custom wheelchair when his muscles do not want to cooperate with him. Mobility aids in the SPSD world are very common!
However, there is still a tremendous amount of stigma surrounding rare diseases and disability in society. Many times, people are told that they do not look sick, do not look disabled, or do not look like a rare disease patient.
To which we must respond with “What is a rare disease patient supposed to look like?”
As young people with SPSD, we face some unique challenges that our healthy counterparts may not need to concern themselves with, such as being discouraged from attending college due to our unpredictable health and having to have constant health insurance. I use my health insurance multiple times a week, so even a week without health insurance can add up to a massive $15,000 debt for a routine week of treatment and appointments that does not involve a hospital admission!
Ultimately, our goal in life is to eventually have a bedroom free of IV poles, feeding tube pumps, formula, diabetes supplies, regular needle sticks into our ports for treatments weekly, regular immunotherapies, and to have a single drawer in our nightstands free of all the medications we must take daily to make the symptoms bearable. Until we have our cure, we will keep on doing our immunotherapies, managing all the comorbid conditions with SPSD, and advising our medical teams on what we think is the right move for our bodies, as we are constantly reminded that we know our bodies best. Maybe someday, Rare Disease Day will finally be acknowledged on Google and Apple calendars. After all, SPSD may be a rare disease, but rare diseases are not rare!
