I was diagnosed with stiff person syndrome (SPS) on a Monday night in October of 2017. The impact of my condition on my life has been tremendous. My symptoms started after I lost my former husband to suicide in 2014. My kids were eleven and thirteen at the time. The stress was unimaginable and the trigger for my disease. In two years, I went from being a dentist, doing karate and traveling, to not being able to work, drive or care for myself or my children.
I suffer from extreme fatigue and severe neck and back pain due to muscle rigidity. I’m exhausted all the time. I rarely go out and have lost help during the pandemic. I often feel isolated. It takes everything I have to shower, eat and parent. The medications are sedating and do not work well over time, and I have built up a tolerance to them. So, I keep my medication dosages low and deal with more pain; it is a tradeoff.
Despite the everyday challenges I face, this disease has brought me many unexpected gifts. After being diagnosed, I quickly realized how important it is to raise awareness for SPS. I shared my story publicly in 2018 in a segment on WJLA-TV, a DC-metro area ABC affiliate . I also started a nonprofit, The Stiff Person Syndrome Research Foundation to take action, raise awareness and support research. I developed an advocacy section on the foundation’s website to support people navigating the diagnosis process, a media section to shine a spotlight on this rare disease and an SPS Voices section that features stories from SPS patients around the world.
Rare Disease Day holds a special place in my heart for two reasons: one, because I have one, and two, because I have made deep connections with others around the world who are also in the rare disease community. We understand each other. We take each other’s calls at midnight. These connections are priceless. The burden is lighter when shared and our voices are more powerful when combined. February 28, 2021 is a day to honor our voices together.
I want the public to know the importance of advocacy. My diagnostic odyssey was hell. It took me three years, nine ER visits and thirteen specialists before I was correctly diagnosed with SPS. I was dismissed and medically mismanaged. On average, it takes seven years to diagnose SPS. It took me three, not because I was lucky, but because I was on a mission.
At one of my earlier appointments at Johns Hopkins, my neurologist told me his clinic had been denied grant money for research because there wasn’t enough research to support getting the grant money. Health equity means that everyone receives the same opportunities to be healthy. We know this is not true for people in third world countries or for people with rare diseases. Just because there are fewer of us, or because our fundraising dollars are smaller, doesn’t mean we are any less worthy of better treatments or a cure.
I have a megaphone and I will be using it to show my stripes! I have written an article to acknowledge Rare Disease Day for a local magazine and have submitted information that may be published in The Washington Post to spotlight rare diseases. An Australian man with SPS is currently traversing Tasmania to raise awareness for stiff person syndrome and rare diseases. My foundation organized the event, is publicizing it and media from the local papers to Voice of America TV are covering it. The Stiff Person Syndrome Research Foundation will focus our monthly newsletter and all of our social media posts on support for Rare Disease Day. We will endorse all NORD action items, from writing to members of Congress to joining the Rare Action Network and encourage others to join us. Visit stiffperson.org for more information.