Living with Stiff Person Syndrome: ‘I’m a statue for your lawn’

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Story highlights

Stiff Person Syndrome is a rare disorder that causes painful muscle spasms and stiffness

Experts estimate one in every 1 million people has SPS

Stem cell transplantation may successfully treat this debilitating disease

CNN  — 

Laura Kassem had tripped before. But this time, she fell hard. She couldn’t seem to control her body as she went down, even to protect her face from hitting the concrete sidewalk.

It happened again the next day as she stepped off an escalator. Then again in the parking garage on Monday when she went to work.

“I had no idea what was going on,” the 33-year-old remembers. “I had no idea why I would just drop all of a sudden.”

The third time, she went to the emergency room, where a neurologist ordered an MRI and a cardiologist performed a tilt test – normally done on patients who faint because of a sudden drop in blood pressure.

The tests revealed nothing. Doctors sent Kassem home with instructions to drink more water.

Kassem continued to trip over nothing. So she went to the Cleveland Clinic, where she says her symptoms “baffled” doctors in the rheumatology, cardiology and neurology departments.

Back home in Sylvania, Ohio, a suburb of Toledo, Kassem made an appointment with an orthopedic surgeon to address the extreme pain in her hips and lower back. He sent her to a neurosurgeon, who in turn sent her to see a neurologist who specialized in neuromuscular disorders.

Meanwhile, Kassem tried to avoid open spaces. She hugged walls so that if her body froze up, she wouldn’t fall flat on her face. She already had a few loose teeth, and her nose was a mix of blue and purple.

One night, Kassem and her sister were watching “20/20” when the woman being interviewed began describing Kassem’s symptoms. The woman had been diagnosed with Stiff Person Syndrome, or SPS, a rare neurological disorder characterized by painful muscle spasms and progressive stiffness in the lower back and limbs.

Could that be it? the Kassems asked themselves. They had never heard of SPS. But Kassem’s latest neurologist thought they could be right. While waiting for the test results, he put Kassem on benzodiazepine, a medication that is known to lessen the symptoms of SPS.

It worked. For the first time in nearly a year, Kassem was able to walk without assistance.

Read more of Laura’s story on iReport

The exact prevalence of Stiff Person Syndrome is unknown, according to the National Organization for Rare Disorders, but one estimate places it at one in every 1 million people. That means about 316 people in the United States have it.

The exact cause of SPS is also unknown. Doctors believe it has something to do with a deficiency of glutamic acid decarboxylase, or GAD. GAD is involved in the body’s production of gamma-aminobutyric acid, which helps control muscle movement. In patients with SPS, antibodies mistakenly attack certain neurons that produce GAD, leaving the body without the protein it needs.

The symptoms of SPS generally start to appear in patients after age 30. People with SPS initially experience muscle stiffness or discomfort. As the disease progresses, muscle spasms and rigidity become more pronounced. These muscle spasms can last anywhere from a few minutes to several hours, and are triggered by unexpected noises, physical contact, stress and/or emotional anxiety.

“I’ve fallen on the streets and prayed to God that someone wouldn’t run over me,” says Ingrid Steppan, who was diagnosed with SPS five years ago. “My husband can’t touch my arm. My kids can’t give me hugs.”

Steppan compares the muscle spasms to childbirth. Imagine contractions felt in the uterus happening from your neck down to your toes, she says. The whole body goes stiff – hence the syndrome’s name.

When she first began experiencing symptoms, Steppan couldn’t dress herself. Her 9-year-old son had to help her put on her underwear, because his older siblings had all moved out and her husband went to work early.

“It was embarrassing for him and it was embarrassing for me,” she remembers. “We both cried.”