This post is sponsored by GeneDx, but all of the opinions within are those of The Everymom editorial board.
When Mora East was around eight months old, her parents noticed something that made them pause: she hadn’t started sitting up on her own yet. “Most kiddos master this between six to eight months,” Mora’s mom, Sara Driscoll, recalls. Wanting to make sure Mora had the support she needed, Sara reached out to their state’s early intervention program and started physical therapy. Even though she was told that all kids develop at their own pace and that Mora was still within the typical range, her intuition nudged her to keep asking questions and seeking guidance.
She didn’t want to doubt the doctors, but she also wanted to make sure she was advocating for Mora in the best way possible. That careful attention and persistence ultimately guided the family toward answers, leading them down a path that, while challenging at times, proved deeply rewarding.
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While Mora’s early check-ins with medical providers offered some reassurance, Sara and her husband felt there was more to learn about their daughter’s development. “Even after Mora’s initial microarray genetic testing came back typical, something still didn’t feel quite right,” Sara explains. “She was falling further behind her peers, and we noticed her eyes crossing when she was tired. As two engineers ourselves, we wanted more data—something that could help us better understand what we were seeing.”
It was through this persistent curiosity that the Driscoll/Easts learned about Whole Exome Sequencing (WES), a more comprehensive genetic test that’s better at detecting more subtle genetic alterations, which microarrays may overlook. They decided to pursue WES testing through GeneDx, a genomics company that specializes in exome and genome sequencing and makes gene testing more accessible to families. “Whole Exome Sequencing through GeneDx gave us the chance to search for answers with the same precision and care we brought to everything else we do,” Sara states. Soon after, the results helped them receive the diagnosis that changed everything.
When the results arrived, they finally got the clarity they were looking for: Mora has a de novo pathogenic variant in the SYNGAP1 gene, confirming SYNGAP1-related disorder (SRD). This can lead to a spectrum of neurodevelopmental disorders, including intellectual disabilities, developmental delays, and childhood-onset epilepsy. The news came as a surprise; although Mora’s initial testing didn’t suggest any abnormalities, the more comprehensive genetic results revealed a fuller picture. This information gave the family the understanding they needed to move forward with confidence and take proactive steps in her care.
“The counselor recommended seeing a neurologist due to the prevalence of epilepsy in the SYNGAP1 community. After the two-month waitlist for our local neurologist, we performed Mora’s first EEG and confirmed she has epilepsy.” Amanda Singleton, MPH, ScM, CGC, Medical Affairs Director at GeneDx, shared the importance of Mora’s family receiving these results as they started their diagnosis journey. “Genetic answers can shape care, ease uncertainty, and empower families navigating many conditions. For epilepsy, this can mean earlier detection, tailored treatment, and access to gene-specific resources.”
“The test gave us the chance to search for answers with the same precision and care we brought to everything else we do.”
Singleton also explains why advocating for testing is so crucial. “Genetic testing is often a key step for families with children who have unexplained epilepsy or developmental delays. A genetic diagnosis can guide clinical decisions and medical management, with up to 80 percent of individuals seeing direct implications for treatment and care,” she says. She also notes that telehealth options, like those GeneDx offers through a partnership with Genome Medical, have made testing more accessible. “Families don’t have to leave their homes, and sample collection can even be done via a simple cheek swab,” Singleton adds.
Amanda is a board-certified genetic counselor providing clinical support to both the Biopharma Partnerships team and the Patient Advocacy and Engagement team at GeneDx.
With a confirmed diagnosis, the Driscoll/Easts could finally address Mora’s unique needs. “Because of our genetic counselor’s guidance, we caught her seizures early—subtle eyelid myoclonia that we likely never would have recognized otherwise,” Sara says. Over time, Mora’s seizures evolved, but having a roadmap allowed the family and medical team to respond proactively.
Beyond treatment, the genetic diagnosis opened doors to community and clinical resources. Sara shares, “The CURE SYNGAP1 community has truly become a lifeline. Through that network, we’ve learned what seizure medications work best, which specialists to see, and how to manage the behavioral components often associated with SRD.” Singleton adds that genetic diagnoses have a real clinical impact. “For patients with certain genetic variants, treatment changes informed by genetic results have been shown to reduce seizures, improve cognition and communication, and enhance quality of life.”
In reflecting on her family’s journey, Sara says, “It’s completely natural to feel overwhelmed by the idea of genetic testing—we did too. But knowledge can be incredibly empowering. Understanding genetic risks doesn’t just provide answers; it offers clarity and actionable steps for care, prevention, or early detection.”
She emphasizes the sense of community the diagnosis created. “Most importantly, a genetic diagnosis connects you to families who truly get it. The support, shared experiences, and understanding we’ve found through the SRD community have been invaluable. Genetic testing may feel intimidating at first, but for us, it replaced uncertainty with direction and isolation with connection.”
Singleton encourages other parents to advocate for their children by asking questions and exploring all available options, including telehealth, if they want to learn more about genetic testing. For the Driscoll/Easts, Mora’s diagnosis didn’t just provide answers. It provided a roadmap, a community, and the confidence to navigate her care with hope. Sara sums it up perfectly: “It’s not an easy life, but it is an extremely rewarding one—full of small victories, fierce love, and an ever-deepening appreciation for what truly matters.”
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This post is sponsored by GeneDx, but all of the opinions within are those of The Everymom editorial board.
