May 7, 2009 -- Kristie Tunick, 32, was determined to go to her future brother-in-law's 2007 wedding, despite being ill for several years from stomach problems and an autoimmune condition that leaves her weak.
In the end, Tunick went and had a terrific time. But she paid for it later when her body became achy and stiff.
"We were getting ready to leave, but I felt so ill," Tunick recalled. "It was one of the first times I felt really stiff. I thought it was due to the flu, that I was achy and so it was hard for me to move."
But it wasn't a simple case of flu. Soon after Tunick and her fiancé, Brian Mendenhall, returned to their home in southern Nevada, Tunick found she could not stand up and was having trouble breathing. Her doctor sent her to the emergency room.
"Once we got to the hospital, my body had locked up," said Tunick, who had also gone into respiratory failure. "I was unable to move any limb of my body, exactly like a paraplegic. But it's extremely painful. It feels like I'm laying on cement and somebody is crushing me down."
Tunick was experiencing the first of many episodes in which her muscles seized up painfully, a rare neurological condition known as Stiff Person Syndrome (SPS). Though the cause is unknown, SPS has features of an autoimmune disease in which the body's immune system attacks itself, setting off, in this case, muscle spasms.
For some people with the condition, unexpected stimuli -- such as loud noises and emotional distress -- can trigger muscle spasms and falls. Because these stimuli are so prevalent in the outside environment, many SPS sufferers are afraid to leave their homes.
Loud noises do not trigger Tunick's episodes. Rather, Tunick's painful muscle spasms paralyze her anytime her body comes in contact with a hard surface, such as a chair or a hard bed.
And the spasms can be severe.
"When you feel the muscles they're really hard, like rocks," said Dr. William Weiner, chairman of Neurology at the University of Maryland School of Medicine and a member of the American Academy of Neurology. "It's a really abnormal feeling."
Diagnosing Stiff Person Syndrome
Individually, the symptoms of SPS are not diagnostic, meaning they are often too general for doctors to be able to understand much of anything about what condition a patient might have.
And because the syndrome is so rare, it is often mistaken for a variety of musculoskeletal conditions, including Parkinson's disease, multiple sclerosis, fibromyalgia or something of a psychosomatic nature.
"Sometimes people are mistaken for being neurotic or overly anxious," Weiner said. "They complain of intermittent spasms, and doctors won't recognize it."
Weiner added that his clinic may only see one person with SPS every three or four years.
Challenges With Autoimmune Disease
Tunick struggled with autoimmune diseases for years prior to her first SPS episode. Gastroparesis, a disease that paralyzes the stomach muscles, forced her onto a liquid diet. She also suffers from Myasthenia Gravis, which makes her weak and leaves her with little control over her facial muscles.
She has undergone a number of surgeries in the quest to improve her health. She had her gallbladder removed in January 2006 to try and cure her gastroparesis but the operation made her condition worse and she began having long moments when she lost consciousness.
Following the disastrous episode after the wedding, Tunick was sent to UCLA, where neurologists gave her a possible diagnosis of SPS. But they were not able to do a complete work-up of her condition because she was five weeks pregnant.
"That shocked all of us," Tunick said. "I wasn't supposed to be able to get pregnant [because of medications], and I was in pre-menopause."
Tunick had an abortion. Then, for about five months between January and May 2008, she remained locked up, stiff and unable to move any of her limbs.
"I was a paraplegic, basically," Tunick said. "[Afterwards] I went to rehab and had to relearn how to do everything, like a baby."
Her physical inabilities have taken a frightening emotional toll on the couple.
"It scares Brian to think he's going to walk into the house and find me dead," Tunick said.
In addition, insurance companies have made diagnosing and attempting to treat Tunick's various conditions a frustrating daily problem. In the past, her insurance providers have refused to fly her by helicopter to specialized treatment centers, discharged her from intensive care units while her muscles were still tensed, and prevented her from undergoing smaller procedures such as multiple endoscopies.
Paying For Treatment Proves Difficult
Tunick and Mendenhall are struggling now to raise enough money -- they estimate that they need approximately $200,000 -- to go to the Mayo Clinic in Rochester, Minn., one of the premier centers for evaluating SPS. The couple is already burdened with costly hospital bills from the last few years of treatment.
Weiner said treating SPS is heavily dependent on the person, and there are no guaranteed therapies. The most common treatments include muscle relaxants such as diazepam or anti-epileptic drugs to control spasms, but some patients don't like them because they cause drowsiness.
"The whole thing can be quite debilitating," Weiner said. But he pointed out that there are some promising therapies for autoimmune diseases such as SPS that work by flushing the immune system with a new population of antibodies, in the hope that they will be less aggressive toward bodily tissues than their predecessors.
Meanwhile, those like Tunick who live with the condition wait for a medical solution.
"I haven't spent that much time doing anything in public due to my illness. Prior to this I was the most active person you've met," said Tunick, who maintained a full time college and work schedule in addition to participating in a sorority, and later cared for her chronically ill mother for about three years.
"I never know what my body is going to do," she said. "I couldn't be maid of honor at my best friend's wedding. I couldn't even attend the wedding."