Why I Spiraled Over Sanfilippo Syndrome After Reading Online (And What Stops The Cycle)
It was 1:17 a.m. when I found the first Sanfilippo forum post. My 3-year-old Milo was asleep in the next room, his dinosaur-themed sheets kicked off to the foot of the bed, and my third mug of decaf had gone lukewarm on the nightstand. Three days earlier, our pediatrician had shrugged off my concerns about his 10-word vocabulary and how he still trips running up the front steps, said “every kid hits their own mark” and sent us home. I wasn’t convinced, so I’d started typing.
I knew the basic rule: don’t Google symptoms at 1 a.m. But I couldn’t sleep, so I ignored it. I typed in “late talker tripping a lot toddler” and there it was, right at the top of the results: a parent’s story about their child’s Sanfilippo diagnosis, starting exactly where I was: worry about speech delay and unsteady balance.
I clicked. For the next two hours, I went down every rabbit hole. I joined a private parent group, scrolled every introduction post, matched every symptom line by line. The posts all talked about early signs that sounded exactly like what I was seeing. “My son only had a handful of words at 3.” “He fell all the time when he ran.” I crept back into Milo’s room to stare at him, checking for the features I’d just read were common. I shook my husband awake at 3:30, holding my phone so close to his face the screen bleached his sleepy features. “What if it’s this?” I said. He squinted, read the first paragraph, said “Babe, it’s one in 70,000. Go back to sleep.” But I couldn’t.
By the next morning, I’d called the pediatrician’s office three times, demanding an immediate referral for genetic testing. The nurse sounded confused, but she agreed to fit me in for a check-in the next week. I spent the whole week in a fog. I watched Milo like a hawk. When he couldn’t remember the word for cookie that he’d used the day before, I sat on the kitchen floor and cried, convinced that was the regression the posts talked about. When we went to the park, I counted every time he tripped, wrote it down in my notes app.
That Friday, my best friend Lila, who’s a preschool special ed teacher, met me for coffee after I dropped Milo at playgroup. She saw me scrolling the group on my phone while I waited, and she just reached across the table and turned my screen face down. “Tell me what’s going on,” she said. I spilled everything, how I was sure I’d missed something, how every line of every post fit.
She didn’t tell me not to worry. That’s the thing no one does right when you’re spiraling – they just tell you not to worry, like that’s enough. Instead, she pulled out a napkin and pulled up the CDC’s page on Sanfilippo on her own phone. “Let’s do this,” she said. “They list the core diagnostic red flags here, not the stuff every worried parent posts about. Let’s write them down, then you check off which ones Milo actually has.”
We wrote down three core things: 1) Consistent loss of skills your child already mastered, not just slow skill gain, 2) Coarser, thicker facial features than other family members, 3) Chronic, frequent digestive issues that don’t have another explanation. I went down the list. Milo had never lost a skill. He still sleeps with the same tattered bear he’s had since he was 6 months old, he still opens his own juice box, he still knows how to turn on my phone to watch Bluey. His face looks exactly like my little brother’s did at that age. He has perfect digestion, goes once a day like clockwork. The only thing we had on the list was delayed speech and balance issues, which are common to a hundred more common things, from low muscle tone to just being a kid who runs too fast.
That’s the practical thing I wish I’d known before I spiraled: rare diseases get a lot of online space because their stories are shared more, and all those stories lead with the common, vague symptoms that almost any parent of a developmentally delayed kid will recognize. Your brain can’t tell the difference between a symptom that’s one small part of a rare disease and a core, required symptom you have to have to even get tested. The concrete step I now use any time I feel that spiral coming is: pull up the official diagnostic criteria from a trusted source (CDC, a major children’s hospital) and only match the core “must have” symptoms, not the throwaway lines in parent stories.
Another thing I do now is set a 15-minute timer the second I start Googling medical stuff. When the timer goes off, I write down any questions I have for the pediatrician or Milo’s OT, close the browser, and do the dishes. No more scrolling until 3 a.m. For teachers or caregivers who see a parent going through this, the best thing you can do is exactly what Lila did: help them sort the list. Don’t just say “it’s rare, don’t worry.” Sit with them, write down the must-have symptoms, and go through them one by one. It takes the messy, vague panic and turns it into something you can check off, instead of letting your brain fill in all the blanks with the worst case.
I got the check-up a week later. Our pediatrician agreed the red flags weren’t there, we did a full developmental eval instead of genetic testing, and found that Milo has low muscle tone and a moderate speech delay. He’s been in OT and speech for a year now, and he’s making steady progress. He still trips sometimes, and he still mixes up his words. Sometimes, when I’m up late waiting for him to fall asleep after a bad night, I still get that little twinge of worry. I still see other parents posting in parenting groups asking if anyone else has spiraled over Sanfilippo after reading online, and I know exactly how they feel.
I just share my little tip: write down the core symptoms first. That doesn’t make the worry go away completely, and it doesn’t mean you shouldn’t get your concerns checked out. But it stops the spiral from taking over whole weeks of your life, when you should be doing other things – like chasing your kid around the park, or drinking hot coffee while it’s still warm.
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