One in a Million Odds: Living with Stiff Person Syndrome

The story of Jillian

Just over four years ago, I was diagnosed with a rare neuromuscular disease. In truth, it took a frustratingly-long eleven years of research, progressing symptoms, and going from doctor to doctor in order to get a diagnosis. Despite my diagnosis, I have done what many doctors have called impossible. I managed to carry and give birth to two children after symptoms started, with one of them being after diagnosis. I have also had the misfortune to deal with managing a serious and crippling disease with no insurance. I have also been diagnosed with Idiopathic Intracranial Hypertension, another serious neurological disease.

What is Stiff Person Syndrome? While considered a neuromuscular disease, SPS also has autoimmune and inflammatory components. Underlying rigidity makes walking and personal care difficult. Fatigue, stress, noises, vibration, or even something as benign as a hug or kiss can set off spasms that can leave bruises, tear soft tissue, and at their worst, break bones. The average patient waits seven years for a diagnosis. That diagnosis is difficult due to the rarity of the disease – the diagnosis rate is only 1 in 1,000,000. Most neurologists have never diagnosed the disease, let alone seen a patient with the diagnosis.

Before I received the diagnosis of SPS, I had symptoms for many years. In high school, at the age of 16, I began having spasms in my back, hips, and hands. My calves would ache from the tension of constant spasms. By the time I reached 19, I had difficulty walking at times due to hip flexor spasms. I developed daily migraines, was teased for being clumsy, and suffered from mild depression.

After the birth of my daughter at age 23, my gastrocnemius (calf) muscles shortened and became rigid. Surgery performed one year later by a podiatrist restored my right calf to within the range of normal mobility. Just a few years later, surgery was performed on both wrists to relieve carpal tunnel syndrome from “Double-Crush Syndrome.” Rigid muscles in my arms and back were crushing the nerves, causing debilitating pain and numbness. Spasms in my neck and back at the same time caused me to go out on medical leave, and despite my best efforts with therapy, I was never able to return.

Managing my pregnancy with my son required medication that my doctor approved, but that no woman would take under normal circumstances. My body burned through IVIG so quickly that I went to the infusion center every two weeks, for three full days of infusions. For the most part, I was bedridden during the pregnancy. I would love another child, but with good reason my husband is reluctant. It took a team of medical professionals to help me stay as comfortable as possible, and I still almost lost my life after the delivery.

For one very long year, I lost medical coverage and did not qualify for Medicaid. The fear of the unknown was enough to bring on spasms that left me feeling as if I had been hit by a semi-truck. The cost of IVIG is incredibly expensive, and I did not qualify for charity care through the hospital because my husband was receiving unemployment insurance. Even Emergency Room visits were out of the question when I was having a flair, because of the cost. Eventually I received Social Security Disability approval, and with that, Medicaid. The new coverage required a fight to retain my current team of doctors, which must be renewed every six months. It has been eight months, and I have only managed one IVIG cycle. Medicaid has been a blessing and a curse at the same time.

My symptoms continue to progress. On good days, it feels as though I am walking through wet cement or molasses. On bad days, even moving in a wheelchair is excruciating. Searing pain from spasms leaves me crying and awake at night. Even when I sleep, I move so much that my sleep tracker picks up on average two hours of tossing, turning, and spasming. Medication including IVIG (gamma globulin), Ativan, Baclofen, and Tramadol dull the symptoms to a point. I have been offered stronger medication. The thought of sleeping through the important moments in my children’s lives deters me.

My marriage has suffered, as all marriages would given the circumstances. However, I am blessed to be married to one very strong man. He has been my rock, and has fought for me. He has kept me strong. He has been one of the few that has always believed and stood by me, even when I lost many friends and some family members. You truly do find out who your real friends are when life throws a wrench like SPS into your well-made plans.

I hope that one day, SPS will not just be a disease with a funny name. One day, my fight, and the fight of hundreds of others, will not be in vain. Please help support awareness and the search for a cure for Stiff Person Syndrome.