In the fall of 2015, eleven-year-old Sophia Cahill* began blinking her eyes. Though an eye doctor dismissed the blinking as a symptom of dry eyes, her parents would look back later and realize the blinking was a tic. Sophia was otherwise healthy and unbothered by the blinking so life carried on as usual. The simple tic would unfortunately foreshadow much darker days to come.

As Sophia entered seventh grade the following year, she enjoyed spending time with friends and family, performed well academically, and excelled in several sports. She played softball and skied black-diamond slopes with ease. With a love of horseback riding, she had spent two weeks the prior summer at an overnight riding camp. Independent and responsible, she had flown alone across the country to see her cousins and was a trustworthy babysitter for her siblings. Sophia was happy and healthy, with a precocious sense of humor and an easygoing demeanor. Sophia’s parents, both medical doctors, had no concerns about her behavior or health that could have predicted that her life would soon be dramatically and abruptly turned upside down.

Shortly after the school year started, Sophia became sick with a virus and then pneumonia. The illnesses would have been easily forgotten were it not for the troubling episodes that began the following month. Out of the blue and generally in the evenings, Sophia would become extremely distressed and inconsolable, crying for hours at a time. In a state of extreme anguish, she’d rip up boxes of Kleenex, pound her fists on the bed, and repeat bizarre and senseless phrases. Her pupils would dilate and with sheer terror in her eyes and panic on her face, she would scream “Mommy! Mommy, help me!” but no amount of consoling could ease her suffering. Eventually, her hysterical sobbing was punctuated with the disturbing sight and sound of the usually calm twelve-year-old banging her head against the wall. By the wee hours of the morning, she would collapse from utter exhaustion and fall sleep.

The morning after each episode, Sophia would awake in good spirits showing no signs of the turmoil that had transpired the night before. A few nights would pass before another episode would occur. Gradually the episodes became more frequent and began lasting longer. Within three months, she had racked up a number of mental health diagnoses from several different doctors and had started an SSRI, yet her mental health continued to deteriorate.

Shortly after the New Year, the distressing symptoms that Sophia had exhibited only intermittently in the prior months turned into an around-the-clock nightmare for her and her family. With the addition of peculiar involuntary movements and constant moaning that would later be recognized as a vocal tic, Sophia was admitted into the hospital.

While hospitalized, her mother received a call from the pediatrician. The strep titers that she had asked the pediatrician to order were positive. This indicated that Sophia had likely had a fairly recent strep infection. Coupled with her dramatic neuropsychiatric deterioration, the pediatrician believed her mother’s suggestion that Sophia might have pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, commonly referred to as PANDAS, was likely accurate. She asked that Sophia’s mother discuss the possibility with the doctors at the hospital. Because Sophia also had a virus and pneumonia in the month before her symptoms began, pediatric acute-onset neuropsychiatric syndrome, or PANS, was also a consideration. PANDAS, a subset of PANS, requires documentation of previous strep infection. Diagnosis of PANS does not require identification of a specific trigger.

Sophia’s parents shared the labs and their suspicions with the hospital, but the attending physicians were adamant that Sophia did not have PANS. Relentlessly symptomatic, Sophia was transferred to an inpatient child and adolescent unit at another hospital with a diagnosis of anxiety. Here too, her symptoms continued to worsen and she developed an extreme startle response, jerking violently at the slightest sound. One week passed and high doses of anti-psychotics, beta-blockers, and other medications as well as additional investigation into medical causes produced no relief. Desperate for help, Sophia’s parents brought her back to the first hospital.

An MRI, EEG, and lumbar puncture provided no insight into what might be wrong and a neurologist reported she could find nothing amiss neurologically. After seeing another psychiatrist, Sophia picked up yet another diagnosis. This time her parents were told she had a conversion disorder and that they were to bring her home and behave as though nothing was wrong with her. With that, Sophia was discharged from the hospital.

At home, she continued to moan around the clock, jerked her arms uncontrollably, screamed hysterically, and was frequently catatonic. Frantic for answers, Sophia’s parents took her to yet another psychiatrist. This time she was diagnosed with a panic disorder, and though the psychiatrist admitted he honestly was not sure what was wrong with her, he prescribed two different anti-psychotics in an effort to stabilize her.

The attempt failed and by February, Sophia had refused to eat or drink for a full week. Treated for dehydration and released by the hospital, she was sent to an in-patient psychiatric facility. She was initially placed on an eating disorder unit and then moved to the OCD and anxiety unit. The two psychiatrists who evaluated her quickly encouraged her parents to have Sophia evaluated by a doctor who specialized in PANS and PANDAS. Sophia and her parents traveled out of state to see a specialist. With a virus and pneumonia preceding her initial neuropsychiatric symptoms, as well as positive streptococcus titers, the specialist confidently diagnosed Sophia with PANS and its subset PANDAS. Returning to the psychiatric facility with a proper diagnosis and treatment plan in place, Sophia was discharged.

Still suffering horrifically, Sophia tried to end her own life two days later. She was rushed back to the same hospital that had encouraged her parents to take her home and behave as though nothing was wrong the month before.

Now open to the possibility of PANS, hospital physicians agreed to treat her with intravenous immunoglobulin, or IVIG. Derived from the plasma of over a thousand donors, IVIG is used to treat a number of serious and life threatening medical conditions, including PANS. Sophia also underwent plasmapheresis, a procedure in which the plasma is separated from the blood cells, treated to remove auto-antibodies that may be attacking the body, and then returned to the body. Next she received Rituximab, a medication that halts autoimmune disorders by targeting and destroying B-cells, a type of blood cell responsible for antibody production

Though patients receiving these treatments often wait eight or more weeks for relief, Sophia was well enough to leave the hospital by the end of the month. Just as she was beginning to resume a few normal activities, pharyngitis caused relapse and she was readmitted to the hospital for an additional six weeks of aggressive immunomodulatory therapies, antibiotics, tonsillectomy and adenoidectomy. This time, the treatment would provide complete remission.

Four months after her final release from the hospital, Sophia is functioning just as well today as she had been prior to the onset of PANS. She is content, doing well academically, and on the school volleyball team. Surrounded by friends to celebrate her thirteenth birthday last month, Sophia showed no evidence of the year-long nightmare she had endured.

To understand how the physicians of a highly regarded hospital system could repeatedly misdiagnose Sophia, it is helpful to understand the history of PANS and PANDAS. National Institute of Mental Health researcher, Dr. Susan Swedo, first recognized what would come to be called PANDAS more than 25 years ago. While researching Sydenham’s chorea and obsessive-compulsive disorder (OCD), the mother of a patient with severe OCD and tics mentioned that her son had strep throat less than two weeks before his onset of symptoms. She had also noticed her older son’s tics would worsen a couple days before the start of a sore throat and positive strep test. As Dr. Swedo investigated further, she became aware that other infections also triggered OCD, tics, psychiatric issues, and behavioral problems in certain children.

Focusing early research on strep-triggered cases of obsessive-compulsive and tic disorders, Dr. Swedo published a paper in 1998 that provided clinical description of the first 50 children she had observed with PANDAS. All cases were characterized by an abrupt onset of OCD or tics following a strep infection. Many of the children also suffered from emotional lability, changes in school performance, personality changes, bedtime fears, separation anxiety, irritability, sensory defensiveness, impulsivity, distractibility, deterioration in handwriting and math skills, oppositional defiant behaviors, and nightmares (1).

A small handful of neurologists were swift to criticize the research. Quickly labeled as controversial, Dr. Swedo and other researchers would find themselves defending the concept of PANS for decades to come. Ruthless in their attack of PANS and PANDAS, several critics published a paper in 2012 in the Journal of Pediatrics titled “Moving From PANDAS to CANS (2).” Despite a large body of evidence to the contrary, they again called into question the scientific evidence for its existence. They also criticized the use of antibiotics to treat children with abrupt onset OCD and tics despite evidence that the health of many children with PANS was restored with antibiotic treatment.

After the paper was published, it was revealed that three of the authors, Dr. Roger Kurlan, Dr. Harvey Singer, and Dr. Donald Gilbert, failed to disclose that they had received financial support from the pharmaceutical company Psyadon (3). The company manufactures a medication for tics, providing a possible motive for their persistent criticism of the concept of PANS and use of inexpensive antibiotics to treat it.

Despite the frequent negative publicity, significant progress has been made in the understanding and treatment of PANS. In 2012, Lucile Packard Children’s Hospital at Stanford started a program treating children with PANS. In 2013, they hosted a conference with a number of experts from prestigious medical institutions and published a paper with clear diagnostic guidelines (4). In February 2015, an entire edition of the Journal of Child and Adolescent Psychopharmacology (5) was dedicated to PANS and PANDAS and in 2017, the same journal published three articles detailing full treatment guidelines (6). The articles were co-authored by an incredible team of experts like Dr. James Leckman, Professor of Child Psychiatry at Yale University, who served as the Director of Research for the Yale Child Study Center for more than twenty years; Dr. Mark Pasternack, infectious disease doctor and Associate Professor of Pediatrics at Harvard University; Dr. Jennifer Frankovich, PANS rheumatologist and Director of the PANS Program at Stanford; and more than two dozen other experts from prominent institutions.

Though experts consider the controversy to be resolved, the vast majority of pediatricians, child psychiatrists, and neurologists are unapprised of the latest research and continue to misdiagnose children who have PANS with any number of mental health disorders. The PANDAS Physician Network, an organization that educates medical professionals and sponsors research of the disorder, lists only one or two physicians who treat PANS in many states. Considering that by National Institute of Mental Health estimates, at least 350,000 children in the United States have PANS, the number of doctors who recognize and treat it is woefully inadequate to meet the needs of suffering children.

For now, many children with PANS continue to wait for the medical community to catch up to what experts have known for decades. We can only hope they’ll be as lucky as Sophia and receive proper medical attention before it’s too late.

*Name has been changed to protect privacy.

References

1. Swedo, Susan E., et al. “Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections: clinical description of the first 50 cases.” American Journal of Psychiatry 155.2 (1998): 264-271.

2. Singer, Harvey S., et al. “Moving from PANDAS to CANS.” The Journal of pediatrics 160.5 (2012): 725-731.

3. Singer, Harvey S., et al. “Moving from PANDAS to CANS.” The Journal of pediatrics 160.5 (2012): 725-731. (see correction)

4. Chang, Kiki, et al. “Clinical evaluation of youth with pediatric acute-onset neuropsychiatric syndrome (PANS): Recommendations from the 2013 PANS Consensus Conference.” Journal of Child and Adolescent Psychopharmacology 25.1 (2015): 3-13.

5. Chang, Kiki, Harold S. Koplewicz, and Ron Steingard. “Special issue on pediatric acute-onset neuropsychiatric syndrome.” Journal of child and adolescent psychopharmacology 25.1 (2015): 1-2.

6. Swedo, Susan E., Jennifer Frankovich, and Tanya K. Murphy. “Overview of Treatment of Pediatric Acute-Onset Neuropsychiatric Syndrome.” Journal of Child and Adolescent Psychopharmacology (2017).

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