A 1-In-A-Million Rare Disease Called “Stiff Person Syndrome”

Shortly after turning 40, I began experiencing abnormal neurological symptoms including a prominent tremor, numbness, slurring, and stiffness in my extremities.

After cycling through numerous, dismissive neurologists during an 18 month period, I was finally diagnosed with Stiff Person Syndrome or SPS in June of 2011. SPS is considered an orphan disease by NORD, the National Organization of Rare Diseases, because it affects less than 1 person per million. The diagnosis was made in Jacksonville, Florida, and we traveled to Baylor Medical College in Houston, Texas, to have the diagnosis confirmed by one of the nation’s top specialists in the treatment of SPS.

SPS is a 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 auto-immune component is typical of SPS. I have also been living with type 1 diabetes for 30 years and been on the insulin pump for 26 years. I take numerous oral medications daily to manage SPS and am also on Intravenous Immunoglobulin Treatment for 3 consecutive days every 3 weeks to slow the progression of this phantom illness. Although I undergo treatment for SPS for approximately 18 hours over 3 days every 3 weeks, this illness does not define who I am.

When not managing my diseases, I run my own interior decorating business, Joujou; spend time with my husband and 2 children ages 13 and 14; hang out with friends; and am an active volunteer, board member and spokesperson for the North Florida of JDRF, the Juvenile Diabetes Research Association.

My faith, family and friends are my ultimate support system on this journey.