A Virginia mother, Cheyenne, has shared her harrowing experience of navigating the healthcare system after suspecting something was wrong with her newborn daughter, Eden. What began as a mother’s instinct led to months of tests and finally a life-changing diagnosis: 16p11.2 deletion syndrome, a rare genetic disorder.
Early Concerns During Pregnancy
Cheyenne’s concerns for her unborn child began during her third trimester when she experienced unexplained weight loss. Medical professionals noted that Eden was not growing at a normal pace, prompting further investigation.
During a routine checkup at 32 weeks of pregnancy, Cheyenne learned that her baby’s fundal height—an important measurement used to assess fetal growth—was smaller than expected. At 35 weeks, a growth scan revealed that the baby was only measuring 28 weeks, leading to a diagnosis of intrauterine growth restriction (IUGR).
IUGR, which affects approximately 10 percent of pregnancies, can lead to complications such as low birth weight and developmental delays. The diagnosis was alarming, and Cheyenne received steroid injections to accelerate the development of her baby’s lungs in preparation for delivery.
A Challenging Birth Experience
Eden was born in April 2023, weighing five pounds and seven ounces—smaller than the average baby girl in the U.S., who weighs around seven pounds and two ounces. However, doctors initially deemed her overall health satisfactory.
As the months passed, Cheyenne began to notice concerning delays in Eden’s development. The baby struggled to meet critical milestones, such as holding her head up and pushing down on her legs—abilities typically achieved by infants at two to four months of age.
Ignored Instincts and Frustration
Despite her growing concerns, Cheyenne faced dismissive attitudes from friends, family, and medical professionals who assured her that every child develops at their own pace. Nevertheless, Cheyenne felt strongly that something was amiss.
“I knew in my gut that something wasn’t normal,” Cheyenne recounted. At Eden’s four-month checkup, she sought help from physical therapy, where her daughter was diagnosed with hypotonia, or muscle weakness.
In search of answers, Cheyenne pursued additional tests, including a CT scan and an EEG, both of which came back normal. However, her instinctive concerns continued to linger.
Seeking Specialized Care
As 2024 approached, Eden’s motor skills began to regress, prompting Cheyenne to consult a new pediatrician and neurologist. An evaluation using the Alberta Infant Motor Scale revealed alarming results: Eden was not meeting developmental milestones and was no longer on the growth charts.
Despite a normal MRI, Cheyenne’s persistence led to a comprehensive panel of genetic testing. In July, she received the diagnosis that would explain Eden’s challenges: 16p11.2 deletion syndrome. This genetic disorder arises from the deletion of a small segment of chromosome 16, impacting genes vital for brain development and function.
Understanding 16p11.2 Deletion Syndrome
Children with 16p11.2 deletion syndrome typically face significant challenges in learning to walk, talk, and socialize. The disorder is characterized by difficulties in expressive language skills, making it hard for affected children to use words effectively, although they often understand spoken language.
Cheyenne learned that around one in 5,000 individuals are affected by this chromosomal abnormality, with approximately 24 percent experiencing seizures. Fortunately, Eden has not shown any signs of seizure activity.
The Road Ahead
The diagnosis of 16p11.2 deletion syndrome has brought clarity to Cheyenne’s concerns, but it also marks the beginning of a new chapter filled with challenges. She is now working closely with healthcare professionals to support Eden’s development through therapy and early intervention programs.
Cheyenne emphasizes the importance of advocating for one’s child within the healthcare system. Her journey highlights the necessity for parents to trust their instincts and seek specialized care when they sense that something is wrong.
Conclusion
Cheyenne’s experience serves as a powerful reminder of the complexities of parenting and the critical role of advocacy in healthcare. As she navigates the challenges associated with Eden’s diagnosis, she remains hopeful and committed to ensuring that her daughter receives the support she needs to thrive. The path forward may be fraught with obstacles, but with determination and resilience, Cheyenne is dedicated to giving Eden the best possible future.
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