Karli Bossman was a happy 5-year-old from Clayton, N.C., who loved going to kindergarten — until one day in 2008, the easy-going child suddenly became obsessive and defiant.
She ripped off her socks and underwear because they “hurt” and insisted on wearing pajamas. And Karli refused to get in the car because she was afraid it would run out of gas.
At first, her parents, Kevin and Kelly Bossman, thought the little girl was being bullied, but after checking with her teachers, that was not the case. What was so frightening was how quickly her behavior changed.
“All of a sudden she was crying and didn’t want to go to school anymore,” said her mother, 32-year-old Kelly Bossman. “Things got so bad we had to pull her out of the house hanging onto the doorknobs.”
The little girl also had an irrational fear of elevators and was scared to go to bed at night for fear she would have a bad dream.
It took two years and 14 doctors to finally figure out what was wrong. Karli, who’d had at least 19 cases of strep throat in the last three years, had developed PANDAS. — pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection.
Symptoms include obsessive compulsive disorder (OCD) — general anxiety, emotional mood swings, rages and oppositional defiance behavior. Some children have learning disabilities and lose fine motor skills movement.
“It’s not a rare disorder, it’s just rarely diagnosed,” said Dr. Denis Bouboulis, an immunologist from Darien, Conn., and one of the top experts on PANDAS. “There are a lot of children actually misdiagnosed as having a primary psychiatric symptoms, when, in fact they are autoimmune and organic.”
The disorder was first described in the mid-1990s, but has only recently been recognized by the National Institute of Mental Health (NIMH). For years, medical experts thought the link between a strep throat and OCD was only coincidental.
But in 2009, a Columbia University study confirmed that a strep infection could cause PANDA symptoms like OCD behavior and Tourette syndrome tics in mice. According to that research, those psychiatric disorders affect 25 percent of adults and more than 3 percent of all children.
Strep throat bacteria are known to cause autoimmune disorders like Syndenham chorea — characterized by fever and uncontrolled tics of the face or extremities — in susceptible people.
Scientists think that PANDAS and its quick onset use the same pathways as rheumatic fever, affecting the part of the brain that controls movement and behavior in a phenomenon known as molecular mimicry.
Karli’s journey, which continues today as her family strives to find an effective treatment, involved many misdiagnoses, including the use of antipsychotic drugs that have side effects like tremors and weight gain.
Now, the mother of four wants to try intravenous immune globulin (IV IG) treatment that is offered by Bouboulis. That helped Lauren Johnson, the Chesapeake, Va., girl who sneezed 12,000 times a day because of an OCD tic.
Her mother, Lynn Johnson, subsequently founded the PANDAS Resource Network, which put Bossman in touch with Bouboulis, who sits on the board of directors.
Medications Have Not Helped Karli’s OCD
It took the Bossmans years to even get an initial diagnosis. When symptoms first began in 2008, “we kind of waited it out, wondering what it was,” said her mother. But things got worse.
In January 2009 thinking it was a behavioral issue, they took Karli to a local psychologist who gave them a book about OCD in adolescents and children.
“She told me to go home and read it and if I thought it was OCD, to call her back,” said Kelly Bossman. The book mentioned PANDAS.
“We’d had a long history of strep throats, and as I read the book, I thought, gosh, that’s exactly what she has,'” said Bossman.
But none of the doctors — a behavioral therapist and three pediatricians — believed that was Karli’s problem. “No one had heard of it and no one would listen,” she said.
One even put the girl on the anti-psychotic drug Risperdal, and the 6-year-old gained 10 pounds in two weeks. But it helped calm down Karli’s outbursts, especially toward her two younger sisters and brother.
“She was so upset, she would hit and kick and throw things,” said her mother. “The drugs would make her to where she couldn’t get mad and tone her down so you could work with her.”
Months passed and eventually Bossman heard an ad on the radio for a study on children with OCD at Duke Medical Center with psychologist Chris Mauro. Karli was accepted and participated from February to June 2010.
“He asked us our medical history and I never mentioned PANDAS,” she said. “We’d seen three pediatricians and they done blood tests and said she doesn’t have it. We had given up on PANDAS.”
Karli’s condition waxed and waned, but in August of last year, she began second grade and the “high anxiety” started up again, according to her mother. She went back to Mauro, but this time as a patient.
“It was the first time we had been seen outside the study,” she said. “He said he was so happy that now he could tell us what he thought, ‘Karli has PANDAS.’ Finally, a doctor was telling me I was right.”
But Mauro cautions that a PANDAS diagnosis is controversial and treatments are “not a magic cure.”
“The immune modulated therapy treatments with antibodies must be done early and young,” he said. “And the science isn’t clear on the approaches.”
“PANDAS is very rare, and my big fear is that everyone who has OCD and a strep infection will think they have it,” said Mauro. “The treatment of choice right now is cognitive behavior therapy, especially if you are working with the children and their families.”
After finding support and resources online, she located Bouboulis, but had to wait months for an appointment. In the meantime, she found more mothers who had similar frustrations with getting the right diagnoses for their children with PANDAS.
One, Sara Davis Furr of Dunn, N.C., lived only 40 miles away. Her 8-year-old son ripped his clothes off at night because he saw snakes. Antibiotics had helped him, according to a story in the News Observer.
Dunn recommended a pediatrician closer to home who acknowledged the PANDAS and prescribed Keflex, an antibiotic. Karli miraculously got better.
“In 48 hours, 90 percent of the symptoms are gone,” said Bossman, but within 10 days the OCD symptoms came back.
By February 2010, Bossman took Karli to her long-awaited appointment with Bouboulis. He did blood work and switched Karli’s antibiotics and urged her to have all the three other children’s tonsils out, to minimize Karli’s exposure to strep.
Karli improved for a while on new medication throughout the summer, but OCD symptoms started up again this year when school opened.
“She’s back to not wanting socks and underwear, and her grades are going way down,” said Bossman.
Karli has recently started to exhibit signs of depression. “She’s crying that she’s not good at this and that,” said her mother.
When she appealed to immunologists at Duke to offer IV IG treatment, they refused, saying it was still “unproven,” she said.
Meanwhile, money has been tight and the monthly trips to Connecticut have been expensive with four children in tow. Karli didn’t qualify for free treatment under the NIMH study, because she has had PANDAS for too long.
Bossman said she wants to tell her story to help others. “A lot of kids have it and parents don’t know it,” she said.
And for those who know, it’s hard to find doctors because there are so few with expertise around the country.
“It’s a disorder that’s, in fact, very difficult to treat,” said Bouboulis. “You need an expertise in four areas, neurology, psychiatry, immunology and infectious diseases.”
“It’s a very difficult entity to get a grasp on and the children and their families require a lot of attention,” he said. “There are ups and downs in therapy, and most doctors shy away from getting involved.”
But Bossman said she is hopeful that their insurance company with pay for the IV IG treatment and that it will work. “Other parents have seen good success,” she said. “We are keeping our fingers crossed.”