What I Wish People Knew About Stiff Person Syndrome
Imagine being diagnosed with a disease so rare that it affects just one in a million people. It is not something I could have imagined, that is until it became my reality. In 2019, I was diagnosed with stiff-person syndrome (SPS), a progressive, autoimmune and neurological condition that causes muscle stiffness/rigidity and painful spasms that can sometimes dislocate or break bones and limit my mobility. There is no known cause or cure for this condition, and it is so rare that very few physicians have even heard of it—which made the road to my diagnosis quite challenging.
The Road to a Diagnosis
In 2013, I began experiencing painful muscle knots in my upper back, shoulder blade and neck areas. At the time, I worked long hours, did intense boot camp workouts, and led a very active social life. I attributed it to stress and aging, so I started getting monthly massages.
My symptoms progressed over the next five to six years. The massages, which helped at first, became painful. I had slurred speech at times, and I experienced heart flutters. My shoulders started to curve forward affecting my posture. I also experienced tightness in my knees, painful spasms in my neck, weakness in my muscles and extreme fatigue.
I saw an internist, a chiropractor, a sports medicine physician, a neurologist and a gynecologist – all of whom were baffled. I underwent a battery of tests including extensive bloodwork, a sleep apnea test, x-rays and ultrasounds, but each came back normal. I tried acupuncture, cryotherapy, lidocaine, Botox injections and muscle relaxers. Unfortunately, nothing seemed to work, and my symptoms worsened.
By July 2019, it got to the point where it affected my everyday life. I had trouble cooking, dressing myself, brushing my hair, driving, snuggling in bed and exercising. I could barely turn my head while sitting at my desk and sometimes I would walk out of meetings at work in tears because of how much pain I was experiencing.
Around this time, a coworker sent me an email about SPS after a candid conversation about my health. He came across information about it and the symptoms sounded like what I was experiencing. I started to cry as I continued reading about this syndrome and its rarity. The lack of cure was terrifying, and I wondered, “Could this really be my diagnosis?”
A few days before a scheduled appointment with a new doctor, I woke up and my right arm was frozen by my side. It was so stiff and painful that I could not move it in any direction. I went in for an emergency walk-in appointment and in conversation with the physician, I mentioned testing for SPS.
The physician initially dismissed my concern. However, despite her doubts, she consulted with a neurologist and ordered a test for the glutamic acid decarboxylase (GAD) antibody. The majority of those diagnosed with SPS are found to carry the GAD antibody. My case is considered atypical in that I do not have this antibody, yet I presented with many SPS symptoms.
After seeing a neurologist, various rheumatologists and having additional bloodwork and testing completed, I was diagnosed with SPS. I was then referred to Dr. Marinos Dalakas, at Jefferson. He is one of the few neurologists in the country conducting studies to find the root cause of SPS and researching new treatments to mitigate its symptoms. Dr. Dalakas later confirmed my diagnosis.
Living With a Life-Changing Condition
On the one hand, I felt a sense of relief to finally have a definitive diagnosis. On the other hand, I was faced with the reality that SPS is a progressive disease that I will live with for the rest of my life. I could not help but wonder if I would be disabled forever. If I would eventually require a wheelchair.
I learned there are treatment options that aim to alleviate symptoms and help improve quality of life.
With a combination of oral medications, monthly intravenous immunoglobulin treatments (IVIg), heating pads, personal physical therapy, Epsom salt, sensory deprivation floats, a healthy diet, hydration, rest and stress reduction, I have been able to gain back some of the mobility I previously lost and find some pain relief.
At times the muscle spasms happen randomly, but often they are sparked by certain triggers such as bright lights, loud noises, startling reactions, too much stimulation and stress. The days of concerts, plays, movies and amusement rides are gone for now. Spending a couple of hours watching my nephew play or turning my head to be present and stay engaged in conversation can sometimes drain me to the point that I am in bed for the entire next day.
If I happen to be out when I feel a spasm starting, right away I recognize that I need to leave. It usually begins with a wave of nausea, my body starts to feel “off,” and the anxiety, tightness and pain set in. If the spasm is in my neck or upper body area, it causes my shoulders to tighten and my posture to stiffen. With my body slouched to one side, it makes it difficult to walk, sometimes requiring the assistance of a cane.
All of this also affects my mental health. I struggle sometimes with anxiety, depression and suicidal ideation. There are side effects from my medication that make me feel confused. I can lose my train of thought and have difficulty with short-term memory. It can be hard to decipher if it is SPS, the medications or a combination of the two that make me feel like someone I do not recognize at times.
A Community of Support Raising Awareness
Living with a rare disease can feel isolating, but one thing that has helped is the people that I’ve connected with on this journey. I am grateful for my family and friends and their support in helping me navigate my new normal.
In January 2020, it was a friend who told me about a monthly SPS support group online. I am so happy I joined that call and I look forward to our meetings. We bring questions, share personal stories, discuss new clinical trials, medications, treatments and doctors, and talk very candidly about our experiences. We poke fun at one another, laugh and cry and it has really made a world of a difference.
I am grateful for experts like Dr. Dalakas who continue to conduct research and perform clinical studies to develop more effective treatments and find new antibodies that could one day lead to a cure. In early 2022, Dr. Dalakas joined the Stiff Person Syndrome Research Foundation’s Medical Advisory Board. I cried tears of joy the day I received that news. Our small community of SPS warriors needs an experienced physician like him to assist with building a patient registry and continuing the great work he is doing.
I have also created new connections on LinkedIn within the rare disease and disabled communities that have been kind, funny and educational. The resiliency, compassion and ingenuity within these communities are powerful. They have made me feel more comfortable in sharing my story and feel less isolated. I now know it is okay to say “no” to events, stay in bed and cry, seek help, use my heating pad while out, leave an event early and feel like a small task is a great accomplishment.
Most of all, I am grateful for the opportunity to use my voice. There are times when I strike up a conversation with a stranger and before I know it, I am sharing my story. Every time I make someone aware of SPS—a disease that most people have never heard of—to me that counts as a victory.