The journey to understanding ourselves sometimes takes unexpected turns. For Ashley Zambelli, that journey led to a life-changing discovery at age 23—one that finally explained years of unexplained health challenges and gave new meaning to her role as a mother.
Zambelli’s story began to unfold in 2019 when she experienced a pregnancy loss. The devastating news came with an additional piece of information: the fetus had tested positive for Down Syndrome. At the time, this seemed like an isolated occurrence—something she processed as part of her grief without considering deeper implications.
Life moved forward, and in 2020, Zambelli welcomed her daughter Lillian into the world. The joy of new motherhood came with another revelation: Lillian had trisomy 21, commonly known as Down Syndrome. When her second daughter, Evelyn, arrived as a neurotypical child, it seemed like a return to what many would consider “normal.” However, when her third daughter, Kathryn, also received a Down Syndrome diagnosis, patterns began to emerge that couldn’t be ignored.
“Discovering I was expecting another child with trisomy 21 caught everyone off guard,” Zambelli shared with People magazine. “While it’s not impossible to have one or two children with Down Syndrome—since it typically results from random chromosomal separation errors during cell division—having more than that suggests something beyond coincidence.”
The pattern didn’t escape her obstetrician’s attention either. Recognizing that multiple pregnancies with the same genetic variation warranted investigation, her doctor recommended comprehensive genetic testing to explore whether Zambelli herself carried chromosomal differences.
After thorough testing, February 2023 brought answers that were both surprising and oddly comforting. Zambelli received a diagnosis of Mosaic Down Syndrome, also known as trisomy 21 mosaicism. Rather than devastation, she felt a sense of relief and understanding.
This diagnosis illuminated a lifetime of puzzling health challenges that had previously remained unexplained. While Zambelli didn’t display the typical physical characteristics associated with Down Syndrome, she had experienced recurring knee dislocations since age twelve, jaw dysfunction, an elevated heart rate, and ears positioned slightly lower than average.
“People often tell me, ‘You don’t appear to have it.’ I experienced plenty of doubt myself,” she explained to The Independent UK. “Many people think of it primarily as affecting facial features. With a mosaic condition, the signs aren’t always apparent to observers.”
The medical explanation helps clarify this phenomenon. According to Massachusetts General Hospital, Mosaic Down Syndrome occurs when an additional copy of chromosome 21 exists in some—but not all—of the body’s cells. Stanford Children’s Hospital elaborates that individuals with this condition have two different types of cells: some containing the standard 46 chromosomes and others with 47. This cellular mixture means that people with Mosaic Down Syndrome may exhibit some, few, or subtle characteristics compared to those with complete trisomy 21.
The response from Zambelli’s support network has been overwhelmingly positive. “My friends and family expressed surprise at my diagnosis, but everyone responded with happiness and support,” she reflected.
Since her diagnosis, Zambelli has become an advocate for genetic testing awareness. She views testing not as something to fear, but as a valuable preparation tool. “People shouldn’t view genetic testing negatively,” she emphasized to The Independent UK.
Her openness extends to social media, where she’s shared her test results on Instagram to address skeptics and educate others. Beyond advocacy, her posts celebrate family life—sharing beautiful moments with her children and creating content that explains her enthusiasm for motherhood. She’s particularly excited about watching her daughters develop their unique paths.
“We’re especially eager to see how Evelyn develops, considering there’s something remarkable about siblings who share the Down Syndrome experience,” she told People.
The family’s story continues to evolve. Zambelli is currently expecting her fourth child—a son who does not carry trisomy 21. This addition promises to bring new dimensions to their already rich family dynamic.
Zambelli’s experience highlights the importance of genetic awareness and challenges common perceptions about Down Syndrome. Her story demonstrates that understanding our genetic makeup can provide crucial insights into our health histories while opening doors to better support and preparation for the future.
What aspects of Ashley Zambelli’s experience resonate with you? Were you previously familiar with Mosaic Down Syndrome? Share your thoughts and consider passing this story along to others who might benefit from learning about genetic diversity and family acceptance.
