One Saturday morning during his kindergarten year, Alex Kling, now 10, told his mom that his throat felt funny. He didn’t seem that sick, so they chalked it up to allergy season.
“If it’s there on Monday, I’ll take you to the doctor,” Kari Kling told her son. She gave him an antihistamine, and that was it. Monday came and went, and Alex seemed fine.
Six weeks later, Kari noticed the facial tics. Alex began repeatedly blinking his eyes. They visited the pediatrician; he told Kari not to worry, that the tics would go away. And they did. But later in the summer, the grunting began. Alex had begun to make seemingly uncontrollable throat-clearing noises. Back to the pediatrician, and the same conclusion: It would go away.
Meanwhile, Kari turned to the Internet to learn more about what might be causing the behaviors. A friend had mentioned that she knew of a child in another state who had developed Tourette’s-like tics following strep throat. The search engines led her to National Institute of Mental Health (NIMH) research that described PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorders associated with strep infections. Could this explain what was going on with Alex?
The basic premise for a PANDAS diagnosis is exposure to a usual childhood infection, such as strep, says Melanie Burgos-Alarcio, M.D., a pediatric neurologist at Phoenix Children’s East Valley Center. The infection appears to be resolved, but in a matter of weeks, an abrupt onset of obsessive-compulsive behavior occurs along with motor or vocal tics. The symptoms seem to appear “overnight and out of the blue,” after a strong stimulus to the immune system such as a bacterial or viral infection, according to the findings of the NIMH researchers.
For some reason, antibodies the body develops to fight the infection cross into the brain and act on certain neurons, suppressing, or “down-regulating” them, says Burgos-Alarcio. The result is an autoimmune response, as if the body has picked a fight with itself, deep within the brain. A host of neuropsychiatric symptoms—tics, obsessive-compulsive behaviors, anxiety—ensue.
These symptoms may occur several months after a strep infection. In many cases the initial infection can go unnoticed. But when the individual picks up subsequent infections, the symptoms can worsen.
Kari returned to the pediatrician with Alex and this new information she’d found. A throat culture for strep was negative, and by the end of the summer Alex seemed fine. But everything changed on September 16, 2008, says Kari, who has vivid memories of that day.
“My child started saying the word ‘damn,’ uncontrollably, 3,000 times a day. His personality changed. It was like ‘Invasion of the Body Snatchers.’ He was screaming, ‘Mommy make it stop, my brain is making me do this, make it stop!’”
Alex was referred to a local psychiatrist, who began treating his Tourette’s-like symptoms with medications. At that time, the medical community was divided on the existence of PANDAS. Many physicians were not aware of the NIMH research; others were skeptical that a physical illness could trigger psychiatric symptoms. Burgos-Alarcio recalls her advanced training at Children’s Hospital in Los Angeles, before she began her practice in Mesa four years ago. “My neurology program director didn’t think it existed. But my psychiatry director thought it did. So I saw it both ways.”
Kari printed the information she’d found for the psychiatrist, hoping to shed light on this abrupt change in the health of her son. But her questions were dismissed. “He wouldn’t look at the papers. Instead, in front of my child, he told me that as a mental health professional, he wanted to suggest to me that I receive mental health treatment so that I could accept my son for who he was. I knew in that moment that I had just fired him. And that I was going to pursue just what I had to do.”
As Alex developed more of the symptoms described in the NIMH research, including sensitivity to light and sound, anxiety and stomachaches, Kari became desperate. They’d been to 17 specialists trying to find answers; nothing worked. “We felt we were losing him, cognitively, physically and emotionally.” She ultimately reached one of the NIMH researchers by phone, pleading for help. “By this time I was pretty hysterical. I said, ‘Please, I can’t find anybody in Arizona that knows enough on how to treat this.
Can you please tell me the person on the planet who knows more about this, and how do I get to this person?”
The phone call led the Klings to a pediatric practice in Chicago, where a physician had embraced the NIMH research and had begun diagnosing PANDAS and treating it with antibiotics, steroids and intravenous immunoglobulin, or IVIG. The theory is that IVIG floods the body with fresh antibodies and allows the immune system to recover. It took time, and there were many ups and downs, but slowly Alex got better. “He is making a remarkable recovery,” says Kari.
Recognizing and treating PANDAS remains controversial, says Burgos-Alarcio. Physicians must rely on reports of the abrupt behavior changes, and the ruling out of other illnesses. “It’s hard to find a doctor who will say, ‘OK, I’m willing to treat it.’
That’s because there are still very few good studies about the illness.” But that’s changing. Recently, the National Institutes of Health began clinical trials on IVIG treatment for symptomatic children between 4 and 12 years of age.
Word about diagnosis and treatment options has gotten around, largely due to the NIMH page, and the Internet parent support group Pandasnetwork.org, which lists treating physicians by state. Burgos-Alarcio says many families find her that way, often after a long, frustrating search for help. “A lot of them come to me with a file folder that is very thick.” Some cases turn out to be straightforward psychiatric illness, she says, and not PANDAS. But parents are more willing to accept that diagnosis after a workup for PANDAS is completed. “We’re willing to listen. At least somebody is listening.”
Burgos-Alarcio says she’s seen some success with treatment for PANDAS that combines antibiotics and steroids with psychiatric medications and therapy. The children can get better over time. “Most of the ones I’ve treated successfully are back to baseline. The parents have said their child is back.”