Kelli Stanley remembers the phone call as nothing short of an answered prayer.<\/p>\n
For nearly a decade, her family had searched for answers for her 9-year-old daughter Delilah\u2019s condition. Earlier this spring, they decided to try one last test, a rare form of genetic sequencing through Shodair Children\u2019s Hospital in Helena.<\/p>\n
As with so many calls previously, she braced for more uncertainty. But this time was different.<\/p>\n
This time, they finally had a name: ReNU syndrome, a newly discovered condition caused by variants in the RNU4-2 gene. Finally, they had an explanation for a debilitating collection of symptoms Stanley\u2019s daughter Delilah had lived with since birth.<\/p>\n
\u201cIt was the wildest phone call,\u201d Stanley recalled. \u201cThey shared with me that even if we had done the test in years past, it still wouldn\u2019t have come up with anything because it was just discovered in May 2024.\u201d<\/p>\n
The breakthrough came after researchers analyzing data from Genomics England\u2019s 100,000 Genomes Project identified a link between the RNU4-2 gene to previously undiagnosed neurodevelopmental disorders. The discovery has had implications for families worldwide.<\/p>\n
\u201cAs much as it doesn\u2019t matter to have the diagnosis, it actually does in so many ways,\u201d Stanley said. \u201cIt is massively easier to tell people my daughter has this thing … because prior I would have to say, ‘Developmental delay, hearing impairment, vision impairment, microcephaly’, I had to list all of the things. Then they would say, but what’s the diagnosis? And I’d say it’s all of those things. And they say, OK, we’ll just put you down for a developmental delay.\u201d<\/p>\n
“I’m like, it\u2019s so much more than that.\u201d<\/p>\n
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Delilah Stanley plays at a park on a recent afternoon.\u00a0<\/p>\n
Jupiter Floros\/Chronicle<\/a><\/p>\n Having a name for the condition has helped Stanley and her family better advocate for their daughter, who, as she understands it, is the only individual in Montana with an ReNU diagnosis. It\u2019s also helped them make sense of the wide-ranging symptoms.<\/p>\n But while the diagnosis brought long-awaited answers, it also introduced a new set of questions.<\/p>\n \u201cThey have identified this genetic anomaly and the pieces that go with it, but what does that mean long-term? There are no long-term studies because it\u2019s so brand-new,\u201d Stanley said.<\/p>\n The road to diagnosis<\/p>\n Though the diagnosis is new, Stanley\u2019s search for answers began before her daughter was born. During pregnancy, she noticed something different on the ultrasound; her daughter\u2019s profile didn\u2019t match that of her other children. It was a small detail, but one that confirmed her sense that something was off.<\/p>\n Her instinct proved right.<\/p>\n After Delilah was born, Stanley, her husband, Jay, and their four older children were thrust into a journey familiar to many parents of children with disabilities\u00a0\u2014 one filled with uncertainty, countless questions and no immediate answers.<\/p>\n Although symptoms of ReNU syndrome vary from person to person, Delilah\u2019s included a mix of low and high muscle tone, along with feeding and speech difficulties, hearing loss and intellectual delays. She was soon labeled \u201cfailure to thrive.\u201d\u00a0<\/p>\n \u201cThat was very hard,\u201d Stanley said.<\/p>\n Still, the family quickly connected with local resources, including a pediatrician familiar with developmental disabilities and specialists in feeding, speech, gastroenterology and endocrinology.<\/p>\n As hope for a clear diagnosis faded, their focus shifted to meeting Delilah\u2019s daily needs, though they continued pursuing genetic testing, round after round, despite consistently inconclusive results.<\/p>\n \u201cI think the biggest diagnosis that we had overall was what they call Global Developmental Delay, which just meant that she was very behind. She didn\u2019t walk until she was 2 and didn\u2019t have any words until very late,\u201d Stanley said.<\/p>\n That uncertainty, combined with Delilah\u2019s fragile health, took a toll. Even a common cold could escalate into something serious requiring emergency flights to Billings for care that Bozeman emergency rooms couldn\u2019t provide.<\/p>\n Stanley said the hardest part wasn\u2019t just the fear of illness, but not knowing whether Delilah\u2019s condition would worsen with age, or if she would survive something as simple as a seasonal virus.<\/p>\n But even in the hardest moments, she wasn\u2019t entirely alone. Delilah\u2019s siblings were her biggest champions. Their natural acceptance eased Stanley\u2019s fears about how others might view her daughter.<\/p>\n Fletcher, mom, Delilah and Elwood at the top of the slide.<\/p>\n<\/p>\n
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