Medical Myopia: Why Parent Advocacy and Community are Essential to Surviving Regression

“Go to sleep, Aya!!!”

I must have said it at least eight times on any given night. What started as a struggle to get her to bed turned into a slow-motion collapse. We eventually discovered she wasn't just taking a long time to fall asleep; she wasn't sleeping through the night at all—3:00 AM, 4:00 AM, she was still awake.

All of our noticing came as disparate experiences. It began with an increase in self-talk. Driving her to school in her last year of middle school, I noticed her whispering to herself. When I would ask, she would say, “Nothing.” She used to be embarrassed and would only do it in private, but this talk—which I now understand to be mal-adaptive daydreaming—began to take over her life. She would be lost for hours talking, playing all the parts in a show or movie only she could see. There was dialogue and laughter for that world, and none for us. We were shunned; conversations with us were reduced to almost nothing.

As any mom would, I sought support. I read everything I could—aging with Down Syndrome, about stereotypies, and eventually regression—and just knew this could be the onset. My proactive advocacy fell on deaf ears. It felt like my daughter was slipping into this fantasy world of acceptance. But when I brought it up, her developmental pediatrician told me she was just a teenager—moody, or perhaps depressed.

Then it came to a head. One night, out of exasperation because she was still up at 11:30 PM, I told her to come lay with me. I pressed her to open up about what was going on, and then it landed: “I need to find my birth mom.” It hit me like a gut punch. “Whaat!? I am your mom,” I replied. That conversation turned into what could only be described as nonsense babble. There was talk of galaxies, and truths, Beyoncé, and me lying to her—and then, her aggression. She’d never raised her voice before then. It was 1:00 AM, and she was still going. Out of sheer exhaustion, she finally fell asleep sometime after 2:00 AM.

Over the next 48 hours, the unfathomable occurred. She hadn't slept a wink and was in full-blown mania—cursing, screaming, yelling, hallucinating, pacing, threatening, destroying, and making zero sense. She was completely out of her mind. Throughout the psychosis, she kept repeating one sensical thing: "You don’t understand…I'm different."

That episode landed her in the psychiatric ward at Children’s National Hospital, admitted for a week. Because of my pro-activity and pushing, I had already had an MRI and EEG scheduled, but they were weeks away; the hospital stay at least made those tests automatic.

One thing I learned is that doctors can be self-aggrandizing and have a myopic lens; they often consider parents ill-informed in their areas of expertise. As I pressed them to expand their lens, they could not consider what regression could look like at the onset because Aya didn't fit the "normative" profile. The psychiatrist assigned to us was assured it was likely early-onset Alzheimer’s.

At 16?!!! No way.

During one sleepless night for me in the hospital, I went searching again and found a Facebook support group for parents dealing with regression. I posted about our

Dr. Jonathan Santoro of Children's Hospital Los Angeles

circumstance, and within minutes, responses flooded in. One particular person asked: “Could you be seeing agitated catatonia?!”

When I brought it to the doctors, they refused. “We know catatonia, and this isn’t it.”

I didn't stop. When the EEG and brain MRI came back unremarkable, I shared two articles published by Dr. Jonathan Santoro (Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder & Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus), the preeminent doctor out of the Children’s Hospital of Los Angeles, who is working to solve the mystery of why regression happens. The on-call psychiatrist agreed to read them, and when she returned a couple of days later, she apologized. She admitted she’d been treating her older patients in regression as if it were Alzheimer’s, and she finally sanctioned the lumbar puncture they had been refusing. She became an ally.

Upon release, we’ve navigated setbacks and inches forward on this journey with humility and understanding. The on-call psychiatrist at the National Children’s Hospital helped us find an outpatient psychiatrist who has been phenomenal. Interestingly, upon her own research, she noted that Aya was likely exhibiting “agitated or excited catatonia” and commenced the Lorazepam challenge—a regimented short-cycle cadence of drug administration to essentially “wake up” a patient. Aya’s response has been encouraging.

It’s been uphill since. While we still have a long way to go, her delusions of not being born from my husband and I have not been revisited. We’ve seen smiles and gotten hugs. And while she still soothes herself with mal-adaptive daydreaming, she is engaging like she used to. We’ve gotten our quirky, hilarious, full-of-life girl “mostly” back.

Recently we’ve expanded her medicinal supports to include bi-weekly acupuncture and an herbal medicine doctor, who is treating the hormonal imbalances and root causes that sent her central nervous system into a tailspin.

The genesis of her regression seems to be her profound awareness, with the transition to high school, that she is different. For her, there had to be a reason why she was so different, and her brain could not conflate her differences with us.

She doesn’t mention that time now. But I do, because I have to. Because community, awareness, and sharing is important.

If there is one thing this journey has taught me, it’s that we cannot do this in isolation. We have to be each other’s researchers, each other’s advocates, and each other’s hope. I am still in that Facebook group today—receiving support and giving it—because we are still learning, but we aren't doing it alone.