NORMAL — When Michelle Olson was diagnosed with stiff person syndrome, she laughed.
"We knew my body was stiff. It sounded like something he (Dr. Sunil Chauhan) just made up," Olson explained.
"But it's an actual disease that's devastating and detrimental," Olson said.
Olson smiled with the left side of her face, then used her left hand to bring a water bottle with a lid and a straw up to her mouth so she could take a sip.
Her head tilted toward the right. The fingers of her right hand remained curled on her lap. Her right foot was twisted inward.
"Basically, I'm turning to stone," said the 40-year-old Normal woman.
"She has a rare, one-in-a-million disorder," Chauhan, a neurologist with Advocate Medical Group in Normal, said of Olson. "To diagnose is extremely difficult."
"Her prognosis is guarded," Chauhan said. "But, as a neurologist, I am not giving up. Michelle is dealing with it quite well. That helps."
"There is no cure for it," Olson conceded. "That's why talking about rare diseases is so important to me."
Stiff person syndrome, also known as Moersch-Woltman syndrome, is among recognized rare diseases. Together, rare diseases affect one in 50 people, most of them children, according to the National Organization for Rare Disorders.
But separately, rare diseases affect so few people that most people don't even know they exist, and funding for research is minimal.
Olson agreed to tell her story in her Normal home on Feb. 28, Worldwide Rare Disease Day, to increase awareness about stiff person syndrome and rare diseases in general.
In front of her was her rollator transport chair, a walker that can be used as a wheelchair.
"I'm supposed to use the wheelchair but if I sit in it all day I will lose the use of my legs," she said. "So I use the rollator as a walker."
On her kitchen table were 40 prescription medication pills and supplements that she takes each day. A transdermal patch on her chest administered pain medicine through her skin into her blood stream.
All this is a far cry from where Olson was just a few years ago as she and her husband, James, were raising their three children — now ages 23, 16 and 12 — and as she worked for 20 years in retail management with several local stores.
Olson, a Normal native, was diagnosed in 2007 with Hashimoto's disease, a condition in which the immune system attacks the thyroid.
"It's a lifetime autoimmune disease so I still take medicine for it," she said.
During the next three years, she began to experience discomfort in her back and legs. During 2010 and 2011, she was caring for her father-in-law who was suffering from liver failure, in addition to working full time and working with James to raise their children.
She began to experience "jerking movements that would come out of nowhere" in her back, legs and arm. By the time her father-in-law died in 2011, she also would shake from time to time and her walking became stiff.
"I started running low-grade fevers and strange rashes started popping up over my body," Olson said.
During the next several months, sometimes she tested positive for Raynaud's disease, lupus and Sjogren's syndrome. Sometimes she didn't.
"It was extremely difficult," Olson said. "I was a salaried manager working 50 to 65 hours a week. After a day at work, I could hardly stand on my feet, the pain was so bad."
By 2012, she began to experience muscle spasms in her calves, neck and arm.
"It looked like a ripping under my skin," she recalled. "My muscles would become spastic and hard and the pain was excruciating."
She was referred to Chauhan, who did a variety of tests that resulted in the stiff person syndrome diagnosis.
That's a rare neurological disorder characterized by progressive muscle stiffness and repeated episodes of painful muscle spasms, according to the National Organization for Rare Disorders. Spasms may occur randomly or may be triggered by a sudden noise, light physical contact or stress. Severity and progression varies from person to person.
The cause is unknown.
"I researched it and it was so rare, I thought 'How could this affect us?'" James Olson said. "Then I thought, 'We can figure this out. There has gotta be a cure."
Michelle Olson was prescribed muscle relaxants, anti-seizure medication and immunosuppressant drugs.
She then began intravenous immunoglobulin therapy to strengthen her immune system and slow progression of the disease.
She received the treatments every two weeks at a cost of $85,000 per treatment. "Insurance only covers part of it," she said.
"My insurance was excellent," but in March 2014, she needed to stop working.
She's on Social Security disability and her husband's insurance covers part of her treatments. "But everything's a fight because the treatments are expensive," she said.
Even with the coverage, the family still pays a lot out of pocket for all the treatments, including $30,000 in 2015, she said. Chestnut Credit Counseling is assisting the family with its medical bills.
The disease continued to progress and Olson received plasmapheresis treatment last year. With plasmapheresis, blood plasma is replaced with new plasma to stop a person's antibodies from attacking healthy cells, with a goal of mitigating muscle spasms. She may receive another treatment soon.
Every three months, she gets Botox injections to relax her muscles.
Olson's current symptoms include pain, especially in the lower back and shoulders; cervical dystonia, resulting in her neck muscles contracting involuntarily, causing her head to turn to the right and dislocating her jaw; twisting of her right foot to the inside and limited mobility in her fingers.
Her shoulders dislocate almost daily. Sometimes, the pain is so intense, she vomits and passes out.
"It's hard to see your child go through this," said her mother, Linda Redmon, who keeps tabs on her daughter during the day.
"We have to laugh about everything or else we cry," Olson said.
"They don't give you a prognosis," she said. "They just don't know. There is no cure. I hope to live long enough to see my children get married."
Chauhan said, "We are trying to improve her quality of life and do supportive symptom management" as the search for new treatments continues.
"We are doing everything we can," Chauhan said. "Hopefully, we'll turn her course around. That's our goal."
"This (disease) has been pure hell for everybody concerned," Olson said. "I can't go to my kids' appointments or sports events or concerts because of the noise. Things that are monumental to children, I don't get to see. This is not the childhood I wanted my children to have.
"But they are empathetic. I am blessed with a family that cares and loving neighbors," she said. "I'm fighting and trying to be optimistic."
James Olson said "We stay as positive as possible. You take it day by day and try to keep it as normal as possible. We have raised our children to understand the obstacles we face everyday."
"Michelle is remarkable," he added. "She suffers but still smiles and finds the joy in life."