Stiff Person Syndrome: Living with a rare disease often means fighting alone

For ten years, I’ve been very sick with an extremely rare illness, Stiff Person Syndrome.

It took more than five years to get a proper diagnosis of SPS. All that time, I knew that something was terribly wrong with my central nervous system. I was hyper-reflexive, had decreased movement and muscles spasms along the entire right side of my body. I couldn’t breathe – even though I was on 60mg of Prednisone and two inhalers.

The top medical centers in the country kept misdiagnosing me. Cornell in NYC did my spinal tap but didn’t know what to do. I sent my records, which included MRIs and more than 50 pages of blood work and EMG/NCV results, to the prestigious Mayo Clinic in Minnesota. They said they had nothing to help me.

Johns Hopkins misdiagnosed me twice. Seven years ago, they told me to stop all the medications that were keeping me alive and prepare for the worst. They did not even consult with my doctor in New York City, who was helping keep me alive with very specific medicines. He wanted to try IVIG infusions as the next step to help me. Johns Hopkins told me not to do the IVIG and get a wheelchair.

Right Treatment: First Time I Could Move My Head

In 2009, after my second misdiagnosis at Johns Hopkins, I tried IVIG infusions. For the first time, I was able to move my head an inch – what a relief after so much time spent as an immovable brick wall. I was on twice-weekly, high-dose IVIG infusions for a year. The treatments provided some relief and helped my brilliant rheumatologist finally make the proper diagnosis of Stiff Person Syndrome.

I achieved progress in my fight. I learned how to walk again in a swimming pool. But, I was plateauing. My medical team referred me to a famous New York City oncologist known for innovative treatments. She administered a round of non-FDA approved chemotherapy. It was difficult to get the drug. No hospital would even admit me as a patient since it wasn’t FDA approved, but my life was on the line and it was my only chance.

This experimental treatment wasn’t covered by my health insurance since health insurance doesn’t pay for experimental procedures. The first round didn’t work, but my team was aggressive and created a protocol to give me a second round. It put my “anti-GAD65” into a blood level antibody remission. I am so thankful that is worked to save my life.

However, years of an elevated anti-GAD antibody badly damaged my muscles. For the past five years, I have been doing a weekly regimen in NYC to work on the damaged places along the right side of my body to help get more movement back, inch-by-inch, and breathe better.

The treatments take their toll on my body. Bruised arms from collapsing veins. Deep-needling acupuncture to break up scar tissue in my muscles. The entire right side of my body restricted from damaged muscles. At one point, my rib cage collapsed, making it impossible to breathe.

Stiff Person Syndrome: No Foundation. No Wristbands. No Help.

I urgently need help paying for essential items in order to survive and keep going with the rest of this recovery. At the moment, my recovery efforts are beating the latest research study results and have been making medical history worldwide. My treatments are very expensive though. I haven’t been able to work for over a year, and I had 10 months of zero income waiting for Social Security Disability. Although SPS is one of the diseases covered by Social Security’s Compassionate Allowance diagnoses, my application has been delayed.

Patients living with rare diseases struggle like any other patient. But, more often than not, it feels like we are fighting alone in a world that doesn’t understand our challenges.

If I had a more common illness like cancer, MS, ALS, Leukemia, there would be a big medical foundation for financial support and many types of assistance. With SPS, I haven’t had that and it has been a situation in need of dire help. A friend graciously offered to run the New York City marathon in my name to help raise money for my medical bills and recovery. They said that SPS is too rare, and since I don’t have cancer – they couldn’t help me.

There is no medical foundation for Stiff Person Syndrome. It’s extremely rare and poorly understood by the medical community. My medical team in New York City are the only people who know how to properly treat me, and we have been making history worldwide. It is a miracle of God and medicine that I am alive, and I am thankful for each day and anything positive.

New York patient Kelly lives with Stiff Person Syndrome, a rare neurological disorder. To support her GoFundMe Page, click here.