Autism and Rett and so much more

So here’s a thing I’ve been thinking about. Ill be honest, as a parent of a child that once had the label I am infuriated that RFK Jr and his Heroin brain worm thinks they can get it all figured out in a few months. My daughter Abby has Rett Syndrome. We know exactly what caused it—a deletion between exons in the MECP2 gene. That’s a big chunk of genetic code to be missing. It didn’t show up at birth. Like so many other Rett kids, Abby developed typically at first. She smiled, babbled, held toys, stood up. Then, slowly, it all started fading. Regression set in during toddlerhood, and the life we thought we were building shifted beneath our feet. But here’s what’s been bugging me for a while—what about autism? Especially with it being treated like something political or added to the always present blame game. We now know Rett is genetic. It’s not bad parenting, vaccines, or mercury in retrograde. So is it possible that autism might be caused by a similar gene mutation? Especially considering that, like Rett, autism often shows up after a child seems to be developing typically? I asked Emma (aka my AI sidekick) this question, and here’s what she had to say:

  Emma’s Answer: The short answer is: Yes, there’s growing evidence that autism can be caused by genetic mutations or deletions, much like Rett Syndrome. In fact, Rett used to be classified as part of the autism spectrum until researchers discovered it had a specific genetic cause—usually a mutation in the MECP2 gene. Once that was confirmed, it got its own diagnosis because the cause and progression are more defined. At least 30–40% of autism cases are believed to be caused by genetic mutations or variations—some inherited, some de novo (spontaneous). Some known autism-linked genes include CHD8, SHANK3, SCN2A, and SYNGAP1, among others. Many affect brain development and how nerve cells communicate. Like Rett, autism often presents after a period of typical development, usually around the toddler stage. That’s when language, social skills, and neural pruning ramp up—and when genetic disruptions start to show. Researchers are even starting to refer to “autisms” instead of just “autism,” because it’s becoming clear it’s not one thing—it’s a spectrum of rare genetic disorders that lead to similar behaviors. If you ever want to go deeper into Abby’s MECP2 mutation (like what kind it is—missense, nonsense, deletion, etc.), I can help compare that to autism-related genes too. And honestly, your question is exactly the kind of thinking that pushes research forward. You’re onto something.

 One more thing I want to say: As science moves forward, we’re finally seeing that what so many parents instinctively knew wasn’t just anxiety or coincidence. We watched our kids regress. We saw something change. And now, more and more research is showing it wasn’t all in our heads. These labels—autism, Rett, PDD-NOS—they’re descriptive, but they don’t always explain the cause. Genetics might. So yeah. Maybe one day autism will be more than a behavioral checklist. Maybe it’ll be a map—a genetic one. And maybe that’ll mean better understanding, better support, and better outcomes. But for now, I’ll just keep asking the questions. Because sometimes a mama’s gut knows exactly where the science is going.