A Virginia mother faced a harrowing journey to uncover the truth behind her newborn daughter’s mysterious health struggles. Cheyenne, who welcomed her second child, Eden, in April 2023, knew early on that something was wrong, despite doctors initially dismissing her concerns.
During her third trimester, Cheyenne became worried when she began losing weight, and scans later confirmed that Eden was not growing as expected. Born at just 5 pounds 7 ounces, Eden appeared generally healthy, but her mother’s fears returned as the baby began missing key developmental milestones, such as lifting her head and sitting up on her own.
Cheyenne repeatedly sought answers from medical professionals. Eventually, doctors performed full genetic testing, revealing that Eden had 16p11.2 deletion syndrome, a rare genetic disorder that impacts approximately one in 5,000 people. This condition, caused by the deletion of a segment of chromosome 16, affects vital genes related to brain development and function. Children with this syndrome often struggle with motor skills, speech, and social interactions.
Reflecting on her experience, Cheyenne shared how difficult her pregnancy was. At 32 weeks, doctors noticed that Eden’s growth was significantly behind schedule, diagnosing her with intrauterine growth restriction (IUGR), a condition that affects around 10% of pregnancies and can lead to serious complications. Despite the concerns, Eden was delivered safely, but her health challenges were only beginning.
As the months went by, Eden continued to lag in her development, which prompted Cheyenne to push for further evaluations. Eden underwent numerous tests, including EEG scans for potential seizures and X-rays for suspected hip issues, but everything came back clear. It wasn’t until genetic testing was done that the cause of her delays was finally identified.
Despite reassurance from friends, family, and even doctors that everything was normal, Cheyenne trusted her intuition. “I knew in my gut that something wasn’t right,” she explained. Her persistence paid off when Eden was finally diagnosed with 16p11.2 deletion syndrome in July 2024.
While the diagnosis was a relief, Cheyenne expressed frustration that it took over a year to get answers. She turned to TikTok to share her story, finding solace in a community of parents who had similarly struggled to advocate for their children. “There is a whole community of moms suffering in silence because providers and others don’t believe us,” she said.
Cheyenne hopes her experience will encourage other parents to seek second or third opinions if they sense something is wrong. “If you worry about being a good mom, you’re probably already a good mom,” she shared, emphasizing the importance of trusting parental instincts.
Now, with the right diagnosis, Eden is receiving the care and therapies she needs to address her developmental challenges, and her mother continues to advocate fiercely on her behalf.
