Elsa’s Story
At a Glance
Stage: In Treatment / Recovering
Location: WV
Age Now: 7.5
Age at Onset: 5
Primary Symptoms: Sudden Regression •. Vocal & Physical Tics • Sleep Regression
Known Triggers: Confirmed Strep (likely)
Treatments Tried: Antibiotics. •. IVIG
Current Approach: IVIG • Ibuprofen as needed
“This is not her. This isn’t what she’s like,” I stammered, hot tears streaming down my face. It was early August, and I was standing in front of a complete stranger at kindergarten orientation. Elsa was making repeated vocal tics and grinding her teeth. She wouldn’t leave my side. I couldn’t help but think back two years earlier to her pre-k orientation, where she excitedly ran to explore each of the play stations. The teacher was very impressed that at age 3, my little girl with Down syndrome was holding a marker correctly and then neatly putting the coloring supplies back into the box.
By all accounts, Elsa was developing very well for many years. She took her first steps nearly on time and was bright and engaged. Her Birth to Three therapists complimented her attention span and emotional resilience. By age four, she had about 50 words. Nothing like a typically developing peer, but we were in a good place.
Her fifth birthday came a few weeks after her pre-k graduation, where she was dancing along with her classmates for the choreographed ceremony. By late June, Elsa was no longer responding to her name. In July, she started grinding her teeth, and guttural “ehh” sounds had taken over her vocabulary. By August, she was a completely different child.
One evening in mid-September, my husband’s step-brother came to visit. We had tucked Elsa into bed and were getting ready to sit outside around the fire pit when I heard her screaming. I ran to her, fearing she was hurt or sick. There was nothing in her eyes, and she stared right past me, alternating between screaming and crying for hours until she finally passed out from exhaustion.
At that point, I knew this wasn’t just a new side of Down syndrome. But what was it? Sudden, late-onset autism? Was that even a thing?
I made an appointment with the pediatrician, but I made an instinctual change. I asked to see a different doctor in that office, one I had heard good things about from a friend. Within that short meeting, he considered everything I told him and said, “I don’t think it’s autism because she comes out of it. She comes to the surface.”
I was not prepared for that. I went in expecting what I thought was an inevitable diagnosis of autism and left with a lab workup and a referral to Johns Hopkins in Baltimore.
As the chill of winter crept in, Elsa had sunk deeper into this regression. She was no longer able to watch her favorite shows, and she had gnawed on her thumb so badly that she needed antibiotics to stop an infection.
A few days into the antibiotic, I noticed something odd. She was calmer. She was watching television. She looked me in the eyes. So I googled it. Autism and antibiotics. Since the 1990s, some parents of children with autism have noticed improvements or worsening of symptoms with antibiotics.
Why?
Christmas came. Elsa didn’t open a single present that was handed to her. Instead, she paced around the living room for hours, hunting down objects, shoving them in her mouth, then throwing them on the floor. The behavior was only broken up by the sharp, grating screams that had replaced her voice.
Another course of antibiotics followed, this time for strep throat that had spread through our house. Once again, the old Elsa returned, just briefly. It was enough for me to push through the fog of pregnancy and emotional exhaustion and recognize there was something significant about her temporary improvements on amoxicillin.
By late February, we were finishing her third course of antibiotics for yet another case of strep when she had a lumbar puncture and MRI performed. Both came back completely normal, as did her EEG and lab work. There was nothing to point us anywhere.
She was diagnosed with Down syndrome regressive disorder by the pediatric neurologist at Johns Hopkins, with no clear explanation of what causes it or whether it was treatable. From what I could find, DSRD generally occurred in early adulthood and involved catatonia, something Elsa clearly didn’t have.
However, as the weeks went on, Elsa seemed to be improving. Gradually. Even at the MRI, right after she finished antibiotics, she was showing glimmers of her former self.
I turned to Google again and came across a doctor in the southwest United States who had a theory. He believed a gut issue called SIBO, small intestine bacterial overgrowth, could cause autism-like symptoms. The treatment, according to him, was antibiotics, often long term, along with a prebiotic fiber called inulin.
I took this to our pediatrician, along with a timeline of her regression that highlighted the dates she was on antibiotics and how she responded. I was convinced this was the answer.
Except it wasn’t. He didn’t dismiss me outright, but he noted she didn’t seem to have any significant GI symptoms. “There is this condition called PANS,” he said. “I don’t know enough about it, but I can refer her to a specialist in Richmond.”
I ignored the referral. It sat untouched. I didn’t know what PANS was, and Elsa was continuing to improve. That third round of antibiotics felt like a turning point, and I committed to the SIBO protocol. Inulin, fish oil, olive oil, and one more course of Flagyl for good measure.
Elsa wasn’t back to baseline, but she was better. She could watch TV, look people in the eyes, respond to her name, follow basic commands, and do puzzles. She was starting to say words again like “dada” and “baby.” A few symptoms remained, like vocal and physical tics, but overall she seemed to be recovering.
Almost to the day, one year after we received that referral we ignored, everything changed again. She came home from school with a flushed face, pink streaks running up her cheeks and onto her eyelids. I expected a cold, but she seemed fine, so we sent her to my mother-in-law’s house for spring break.
One day in, we got a text. Elsa isn’t sleeping. She was up rocking until 5am. Something isn’t right.
I didn’t know to call it this at the time, but she had been thrown into a major flare by whatever virus was going around.
The only thing I knew to do was take her to the doctor and ask for more antibiotics. She improved slightly at first, as expected, until day six. Day six hit hard. No sleep. No eye contact. She began flinging her arms and shaking her hands rapidly while screaming.
I tracked down that referral, made the appointment, and hoped for relief.
In May 2025, we traveled to Richmond to meet with a pediatric neurologist. Before the appointment, he required a detailed timeline of her medical history and responses to treatment.
As I worked through it, I discovered something I had forgotten. Just weeks before her initial regression, she had a confirmed case of strep throat. Even more concerning, she had been prescribed three consecutive courses of antibiotics, each a different type. It was as if her body wasn’t clearing the infection.
The neurologist reviewed everything calmly and explained the first step would be a long-term, low-dose antibiotic, azithromycin. We would track her five most significant symptoms and report back after six weeks.
She showed some improvement, but a stomach virus during summer school sent her into the worst flare yet. By then, she was almost unrecognizable. She would leave any room the family was in, hiding in secluded places. The movements became more frequent. I would find her rocking and yelling in corners, her eyes vacant and her expression frozen in fear.
At the follow-up, the doctor explained the next step was IVIG, a treatment that infuses donor immunoglobulin to help reset the immune system.
But insurance denied it.
Elsa continued to decline. She paced, screamed, and became increasingly unresponsive. By this point, I was emotionally exhausted and barely holding things together. Four young children, two working parents, and a child in crisis, alongside a rejection from the insurance we depended on.
I had been researching PANS more, and everything pointed to IVIG. Just as I started reaching out for help in every direction I could think of, our neurologist called with news. After a peer-to-peer review, insurance had approved three treatments.
Our first attempt at home failed. We couldn’t get the IV placed. Three adults held her down. I wrapped her in a sheet and laid over her, desperate to get the medication into her veins. It didn’t work.
A month later, we secured a spot at a children’s hospital infusion center in Richmond. That morning was tense. Several experienced nurses worked to place the IV. We gave her medication to help calm her. They struggled. Then suddenly, she shifted into the right position, and it was in. The nurse looked up and said, “Someone must have been praying.” I knew it was me.
In the weeks that followed, I tracked her symptoms carefully. One treatment, then another, then another. Slowly, she began to come back. We were able to demonstrate enough improvement to gain approval for additional treatments.
Now, after six treatments, Elsa is stable. Even when she gets sick, her symptoms are mild. The teeth grinding, tics, and constant vocalizations that once defined our days are nearly gone. She sleeps through the night. She is responsive. She giggles. She hugs. She is starting to say a few words again and attempt others.
But what happens when the treatments end? Her doctor does not go beyond twelve. He says most patients don’t need more. Still, I see conflicting experiences from other parents. Some children need ongoing treatment for years.
Adding to the uncertainty, Elsa continues to get strep throat frequently, often without showing any symptoms. We only discover it when another child in the house becomes sick. It raises the question of how many times this has happened without us knowing. We have been referred to an ENT to discuss removing her tonsils.
That surgery could help prevent future flares, or it could trigger another regression.
For now, I am choosing to push the doubt aside. To soak in her smiles. To celebrate each small milestone. And to hold onto the hope that we can bring her back for good.
-by Kate Masters, Founder, The PANS Parent