Updated to include a 2023 Patient Story
My name is Jennifer and I have Stiff Person Syndrome (SPS), a disease so rare that it affects less than one person per million. My “odd” neurological journey began shortly after my 40th birthday. Excruciating pain and stiffness; numbness; tremors and an exaggerated startle reflex were just a few of my symptoms. Deep down, I knew that something was destroying my body, despite being told by physicians they “could not find anything medically wrong with me.”
Although my journey of cycling through 9 neurologists seemed like a lifetime, I am fortunate because I was diagnosed in less than 2 years at the age of 42. It takes most SPS-ers 7 to 12 years to be diagnosed. Confirmation of my SPS diagnosis was made by Dr. Joseph Jankovic, one of the nation’s top neurologists, at Baylor College of Medicine in Houston, Texas.
SPS is an extremely rare, progressive disease of the central nervous system and typically develops in the spine and lower extremities. Most patients with SPS experience severe muscle stiffness and painful episodic muscle spasms that are triggered by sudden stimuli. An autoimmune component is typical of SPS. No surprise, I have also had type 1 diabetes for 33 years and been on the insulin pump for 28 years. I take numerous oral medications daily to manage SPS and am also on Intravenous Immunoglobulin (IvIg) for 2 consecutive days every 3 weeks to slow the progression of this phantom illness.
I am now 45 and although SPS causes daily pain, stiffness and has slowed me down, I continue to fight the good fight with faith, family, a close circle of friends and my career as an interior decorator – which I love! One such friend is my mentor and hero because she has been living with SPS for more than 20 years. She also lives in town, is a phone call away, and we get together whenever possible to exchange stories of our personal journeys with SPS. I’ve learned to live one minute at a time and to focus on what really matters because life is short. My Christmas wish is to raise awareness for Stiff Person Syndrome especially throughout the medical community so that patients are recognized, respected, diagnosed and treated sooner.
September 2023 Update
David Axelrod shared his story on the Stiff Person Syndrome Research Foundation site, from his diagnostic journey, to navigating treatments and care, and now as an advocate and Chair of the annual SPS Conference and co-Chair of the SPSRF’s Patient Advisory Committee. Here’s a snippet:
In 2001, my life took an unexpected turn when, at just 13 years old, I was diagnosed with a brain tumor. Several years later, another invisible enemy surfaced: Stiff Person Syndrome (SPS). Unexplained, persistent symptoms plagued me for 14 years, with a misdiagnosed sea of conditions – from arthritis to fibromyalgia. My everyday reality was turned upside down by persistent spasms, debilitating fatigue, and episodes of intense abdominal spasms that felt like a vice gripping my torso.
Treatments were akin to a carousel ride – a dizzying, inconsistent rotation of possibilities. Some medications, like Valium and Baclofen, brought relief but came with their own challenges, like daytime drowsiness.
Read about Laura & Sophia’s experience with Stiff Person Syndrome
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