A mom of two thought she had a neurotypical boy who was hitting all his developmental milestones—until everything changed after his first birthday.
Kaitlyn Jones (@kjones217), 26, says her son Gavin, now 3, seemed to be developing typically at first. “He hit all of his milestones, he could utter words such as ‘momma’ and ‘dadda,’” she told Newsweek.
But in hindsight, there were subtle differences between Gavin and her neurotypical older son. Gavin would shake his hands and head, and had an intense fixation on routine—each morning he’d come downstairs and open and close every cabinet in the kitchen before laying down.
At just six months, she noticed Gavin rocking back and forth and raised the concern with his doctor, but was reassured that everything was normal.
Then came a sudden silence.
“At just over 13 months, he went two weeks without saying ‘mom’ or ‘dad’—nothing. I called the pediatrician and was told it could be normal, but I didn’t take that for an answer. I insisted on an evaluation for occupational and speech therapy. He got into therapies, and while we didn’t have an autism diagnosis yet, as a parent, I knew. He never started talking again,” Jones told Newsweek.
Jones started to do her own research and noticed quirks in her son’s behavior which align with an autism diagnosis, such as a fixation on Cocomelon, a popular YouTube channel featuring animated nursery rhymes and songs for young children, as well as on letters and numbers.
By age two, Gavin was formally diagnosed with autism. At one point, he could solve puzzles in under 45 seconds—but then regressed and was no longer able to complete them.
Doctors referred him to a genetic specialist, where testing revealed that Gavin had a rare condition called Marbach-Schaaf syndrome, caused by a mutation in the PRKAR1B gene.
Speaking to Newsweek, Britt Johnson, PhD, FACMG, clinical biochemical & molecular geneticist and senior vice president of Medical Affairs at GeneDx, said that rare diseases aren’t actually rare—they’re just rarely diagnosed. According to Johnson, families like Gavin’s often endure a long diagnostic journey, sometimes lasting up to a decade, while cycling through specialists and testing with no clear answers.
Johnson noted that the American Academy of Pediatrics (AAP) recently made a key recommendation for children with global developmental delay (GDD) or intellectual disability (ID): exome and genome sequencing should be used as first-line diagnostic tools. These tests are particularly valuable for identifying ultra-rare genetic conditions like Marbach-Schaaf syndrome.
First described in 2021, Marbach-Schaaf Syndrome is a neurodevelopmental disorder caused by a spontaneous (non-inherited) mutation in the PRKAR1B gene. Fewer than 20 cases had been documented in scientific literature, but GeneDx has already identified nearly 30 individuals with the condition—suggesting it may be more common than previously thought. Reported symptoms include developmental delays, regression, low muscle tone, autism, pain insensitivity, and hyperactivity, along with stereotypical behaviors like hand-flapping.
GeneDx was a research collaborator in discovering the gene’s role and continues to study its clinical implications. The PRKAR1B gene plays a crucial role in brain development and function, particularly in areas governing language, memory, emotional regulation, and sensory processing. As more cases are identified, researchers hope to better understand the mutation’s long-term effects.
For Jones, the diagnosis was both shocking and isolating.
“I was actually really upset. He was only the 16th person diagnosed—there was not very much information at all. That was hard. I had no idea what that meant to him—still don’t know what that means—40 known cases,” she explained.
Jones shared their family’s journey on TikTok, where a video about Gavin’s diagnosis garnered over 163,600 views.
Despite the challenges, Gavin remains, in his mom’s words, the “happiest little boy ever.” His older brother Remington, 7, lovingly nicknamed him “Goldie.”
“He is the type of kid to live like life is golden. Nothing brings him down. He only sees beauty in a world that can be very dark,” Jones said.
She sympathizes with Remington, who sometimes grieves for the brother he imagined having—especially when watching cousins interact. But the siblings have formed a special bond of their own, singing the ABCs together, blowing bubbles, and spinning around in play.
“Remi goes into Gavin’s world. He makes me cry. His 7th birthday wish was for Gavin to be able to talk,” she shared.
Even with the daily demands of being Gavin’s full-time caregiver, with the help of her husband Trent Tomic, 27, Jones says she wouldn’t change a thing.
“I’ve honestly always felt like it’s planning a vacation to Cancun—you end up in Paris. The route changed. The destination will still be beautiful,” she said.
“The most rewarding part is feeling the love from a child who’s never had to say the words. And the hardest part is the fear of outliving him—just wanting to make sure he’s never alone.”
On TikTok, Jones received an outpouring of support from other parents raising neurodivergent children.
“Autism is so different.. everyday it’s different! Some days my boy is so independent and will use the potty on his own and some days it’s like he forgets everything .. he definitely has his bad days and good days! It’s tough but no one understands… We wish and just hope one day they’ll speak and grow up to be the most independent… We got this! My boy is 4 years old and non verbal,” wrote one user, Channy.
“Two days after my son’s first birthday, he stopped talking and making eye contact. He literally just woke up one day and was different,” shared Brittany.
“My heart goes out to you!! My son is autistic,” said Jordan.
“He’s beautiful,” added Dan Brekke.
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