She's Not There / A medical mystery that turns a childís life ó and yours ó upside down
Abigail Smith (whose name has been changed), 46, remembers that last time she saw her child. She dropped her then 9-year-old daughter, Emma, off at school one sunny morning in March 2016 and told her to have a good day. But Smith was called mid-morning to come get Emma, who had vomited and complained that she wasn’t feeling well; her mom thought it was a virus.
"When I got her home, I thought someone had kidnapped my child and left a clone in her place," recalls the Fort Worth mom.
Emma had sudden and severe diet restrictions and abrupt obsessive-compulsive tendencies. Emma only ate Cara Cara navel oranges with pink flesh, which had to be sliced into wedges, and Cheerios. “My child who used to eat hamburger Happy Meals with dirty hands also became consumed with the idea of contamination,” Smith says. “Everyone and everything was contaminated — her dad, her sister, her school. She would cry that she didn’t want to go to school and was glued to my side.”
Looking back now, Smith says that every time her daughter contracted what seemed like a mild illness, with congestion, a sore throat and low-grade fever, her behavior changed, worsened.
"After her first [viral] infection at the age of 4, she started using more toilet paper and began disliking tags and seams on her clothes,” Smith remembers. “Emma became picky with food and all of a sudden wouldn't eat anything that was brown or tan because she believed it would make her sick. I thought she was just being quirky, and we adapted to her new behaviors. I only put it together years later that her symptoms worsened anytime [she got sick]."
After her virus at 9, Emma developed total agoraphobia — fear that the outside world is unclean or unsafe — and was incapacitated by germs. She stopped touching family members and objects in her home. She required that the bathtub be scrubbed before she got into it and eventually forbade her mother from even handling soap bottles.
"Her pediatrician said it was all anxiety related and that she needed a psychiatrist," Smith says. "The first thing the psychiatrist said when I told him her history was, 'Have you heard of PANDAS?'”
The PANDAS Puzzle
In rare cases, some doctors diagnose children who have a dramatic, almost overnight onset of neuropsychiatric symptoms, including OCD, eating challenges, moodiness, irritability, anxiety, tics (involuntary movements), sensory sensitivities and deterioration in handwriting skills, with PANDAS (pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections), which doctors believe is triggered by strep throat.
PANDAS was first identified and labeled in the mid-1990s by investigators at the National Institute of Mental Health (NIMH). Basically, a bacterial infection such as strep prompts the immune system to produce antibodies. But instead of attacking the infection, they go after the basal ganglia, the part of the brain that controls emotions, behaviors and physical movements.
In 2010, the National Institutes of Health (NIH) broadened the classification to include triggers like Lyme disease, mono, the flu and other common viruses and created a new diagnosis called PANS (pediatric acute-onset neuropsychiatric syndrome).
PANDAS and PANS can mimic other disorders — OCD, Tourette syndrome, attention deficit hyperactivity disorder (ADHD), even schizophrenia — and is therefore often misdiagnosed. But the sudden, dramatic onset of symptoms makes PANDAS and PANS stand out, says Dr. Randy Naidoo, CEO of Shine Pediatrics in Richardson.
"Anytime we come into contact with infection, antibodies are created to help us defend against bacteria and viruses," Naidoo explains. "In some patients, for reasons not quite understood, certain antibodies interact with other tissue or organs in the body. In some instances, they can affect areas of the brain and cause issues such as tics, involuntary or repetitive movement, high levels of anxiety, or obsessive-compulsive thoughts."
It's hard for members of the medical community to pinpoint exactly why some children get PANDAS and PANS and others do not. It seems that some kids are genetically vulnerable; for others, it’s the perfect storm of circumstances.
Either way, it’s still pretty rare. While there’s never been a large population study done, it’s important to note that of all the children infected with strep, the flu or other common infections (which includes most kids), only a small fraction develop PANDAS- or PANS-like symptoms.
"For a long time, I was under the impression that children on the autism spectrum were more likely to be diagnosed [with PANDAS or PANS],” says Dr. Seshagiri A. Rao, an allergist and immunologist in Plano, considered the leading PANDAS specialist in Texas, and the doctor who finally diagnosed Emma. “But in the past 7–8 years, that has completely changed. Now, 80 percent of my PANDAS patients are considered neurotypical. A lot of PANDAS and PANS symptoms simply mimic certain neurological disorders."
Emma, now 10, never tested positive for strep (she’s apparently an atypical strep test responder). Instead her change in behavior was given a dual diagnosis of Sensory Processing Disorder (SPD) and OCD.
"A lot of times, in the conventional practice of medicine, we just quickly associate these factors with a behavioral problem," Naidoo explains. "Patients are often told that they need to see a therapist or a psychiatrist, but a full infectious work-up needs to be done when a patient presents with these findings before he is placed on one or more psychotropic medications."
All In Their Heads
Heather Banks, 31, of Highland Village went through years of misdiagnoses with her son Brayden, now 8. "Brayden was always such a sweet child, but around the age of 5, he began having mood swings," Banks explains. "We started dealing with tantrums, disrespect and impulsivity issues."
Brayden had had strep throat several weeks before the personality shift, but because his parents had never heard of PANDAS or PANS, they didn’t connect the behavior issues with the infection.
But things got worse for Brayden. Teachers lost control of him in the classroom, and he got eye tics and refused certain textures when it came to food, even vomited at the sight of avocadoes or cooked beans.
One year later, Brayden was formally diagnosed with ADHD, and his mom says she couldn’t help but feel relieved.
"Deep down I knew that it was something else and not ADHD,” she admits. “But there was definitely a part of me that thought, 'Ok. At least we have a diagnosis.’ A diagnosis — any diagnosis — felt more manageable for the sudden unexplained behaviors.
Other parents blame themselves.
“Emma became very clingy and had a lot of separation anxiety,” Smith says. “I guess I just started lying to myself. I thought, 'Maybe it's me. Maybe I'm not good at handling her.' Something in the back of my head kept saying, 'This isn't right,' but I just accepted her doctor's opinion that she was more difficult than the average child."
Marcey Mettica, a licensed professional counselor supervisor and registered play therapist in Prosper, says feelings of uncertainty and self-blame are very typical of parents whose children have yet to receive a proper diagnosis of PANDAS or PANS.
"When parents go to the pediatrician, the symptoms can sound outrageous," she explains.
Which is why PANDAS and PANS meet a lot of skepticism from members of the medical community.
One reason parents and doctors don’t connect strep or other potential infection triggers like mycoplasma (which causes walking pneumonia) to a sudden change in a child’s behavior is because there’s often a lag, from 1-6 weeks. Also, in many cases, like Emma's, strep is never diagnosed.
In fact, some PANDAS cases are diagnosed in what doctors call occult strep infections — that is, children who can be carriers but don’t ever show symptoms.
Without clear criteria to diagnose PANDAS and PANS and without a single, standardized lab test for doctors to use, controversy continues to surround the very existence of PANDAS and PANS.
"This is a real thing and parents should not have to go through it alone," Rao says. "So many families are often misguided by seeing physicians who have no experience with PANDAS. Most of my patients come not through physician referral, but from Facebook or other networking groups."
Treating A Mystery
Early intervention is the key to preventing deterioration, and that timely detection is all about understanding the combination of factors that can lead to an onset, Rao explains.
"Often I'll see children who start off with increased anxiety, OCD or tics," Rao explains. "Tics can be very obvious — a neck jerk, shoulder jerk, or body contortion. This is a very acute symptom. Then, we have to go back and look at medical history."
Mettica agrees. "I treat a lot of children for fears, compulsions or anxiety," she states. "But with PANDAS and PANS, there are going to be other red flags such as a recent illness or restricted food intake. I will ask if a child has recently been sick or if there are any other unusual psychiatric symptoms."
Rao says in his practice, he has seen patients where the very first illness induced PANDAS, but many others who displayed symptoms only after consecutive illnesses. He emphasizes that both PANDAS and PANS have a wide spectrum of indicators, and they don't always present at the same time.
As debilitating as PANDAS and PANS can be, both are treatable.
Rao suggests starting with your child’s pediatrician and moving on to a specialist if needed from there.
Naidoo also stresses that parents are their child's best advocates. "If you feel that this is something your child may be dealing with, find a doctor who is willing to pursue this etiology," he says. "Parents may have to do some research to find a specialist who is willing to do a thorough evaluation."
Most physicians can accommodate basic preliminary blood work, which can serve as a starting point.
If PANDAS and PANS are caught early, a heavy dose of antibiotics, antifungals or antivirals (taken for a longer period of time than the standard 10 days) can knock it out. More serious cases might require more invasive and costly treatments such as a tonsillectomy; plasmapheresis, a $40,000 procedure in which the child’s plasma is removed and replaced with healthy donated plasma; and intravenous immunoglobulin (IVIG) therapy, thought to boost the immune system by delivering concentrated amounts of antibodies directly into the veins and costing about $1,000 for every 10 pounds (based on the child’s weight) — none of which may be covered by insurance.
Rao says that post-treatment, most children resume a normal life with a total cessation of symptoms. However, some children may relapse if they contract another illness. For those parents, the nightmare happens again and again, often after their child has been exposed to someone with strep or other infections. Sometimes the symptoms grow worse with each flare-up, but they can usually be extinguished with another heavy dose of antibiotics.
Brayden’s treatment included amoxicillin and a heavy vitamin regimen. "We immediately saw results,” Banks says. “It was like we uncovered my son in one simple step."
He’s since made a full recovery. He continues to take a prescription vitamin but receives no other treatment. Likewise, Emma has mostly returned to herself after being properly diagnosed last August. Within two months of her starting antibiotics and ibuprofen, her family saw dramatic improvements.
"[Before the diagnosis and treatment, Emma] looked like my kid, but my real child was gone,” Smith remembers. “I got really sad thinking this was our life and that it was over. PANDAS was devastating for our family, but after [starting] treatment, I'm finally getting my little girl back.”