Paul and Ashlee Higginbotham, a resilient couple from West Virginia, believed they had encountered every challenge as parents of six children. From managing illnesses to navigating tantrums, they thought they were well-prepared for parenthood. However, nothing could have prepared them for the peculiar behavior of their youngest daughter, Austyn.
Her mother, Ashlee, described Austyn as a child who was perpetually unhappy and never content. "Austyn never slept and cried constantly as an infant," she shared with CBS News. As a toddler, she rarely smiled or laughed, raising significant concern for the family. Additionally, Austyn exhibited mild developmental delays and a noticeable tremor, prompting the family to seek answers through genetic testing.
After months filled with sleepless nights and growing worry, the results of Austyn's genetic tests revealed a shocking diagnosis: the 18-month-old was suffering from Chiari malformation, a rare and serious brain condition. Chiari malformation is characterized by a structural defect where the lower part of the brain extends into the spinal canal, a condition that affects approximately 1 in 2,000 individuals, as noted by Dr. David Harter, director of pediatric neurosurgery at NYU Langone.
This condition is thought to be congenital, although its exact causes remain largely unknown. Chiari malformations are categorized into four main types, with Type I, or Chiari I malformation, being the most prevalent. In Chiari I, the cerebellum extends into the spinal canal, leading to potential pressure on the brainstem and spinal cord, which can obstruct the flow of cerebrospinal fluid.
Many individuals with Chiari I malformation may not exhibit symptoms, and the condition is often discovered incidentally during MRI scans. However, for those who do experience symptoms, they can include:
Severe headaches, particularly at the back of the head, exacerbated by coughing or straining Neck pain and dizziness Balance issues and muscle weakness Numbness or tingling in the limbs Blurred or double vision, along with light sensitivity Swallowing difficulties and hearing loss Insomnia and clinical depressionAdditionally, individuals who develop syringomyelia—a condition where a cyst forms within the spinal cord—may face further complications, including mobility issues and problems with bladder or bowel control.
Upon receiving the diagnosis, the Higginbotham family traveled from West Virginia to New York City for further evaluations. Subsequent tests revealed that Austyn's spinal cord was severely compressed, necessitating immediate surgical intervention. In March 2023, Dr. Jeffrey Greenfield performed a decompression surgery on Austyn.
Following the surgery, Ashlee noted a dramatic transformation in her daughter. "She was ready to go. She was trying to get out of bed and walk. It was as if the pain she'd always felt was gone," she recalled, stating that Austyn's joyful demeanor was restored, leaving the family hopeful for the future.
Just when the Higginbothams thought their challenging days were behind them, tragedy struck again. Their 3-year-old daughter, Amelia, fell ill shortly after returning home. Initially suspected to have Lyme disease, further testing revealed that Amelia also had Chiari malformation along with a tethered spinal cord, a condition where the spinal cord is abnormally attached to surrounding tissue.
Amelia underwent two surgeries in October 2023, both successfully performed by Dr. Greenfield. While she made a swift recovery, the family's ordeal was far from over.
In the following months, the couple noticed concerning behaviors in their 7-year-old daughter, Aubrey, who displayed unusual moodiness and suffered frequent urinary infections. Suspecting a pattern, Ashlee pushed for an MRI, which confirmed that Aubrey also had both Chiari malformation and a tethered spinal cord. She underwent surgery in November 2023, with Ashlee expressing relief that they "got her back."
The situation escalated when 11-year-old Adalee, who had been complaining of leg pain, was diagnosed with the same conditions. Adalee's surgery took place in March 2025, and she experienced a strong recovery, even joining her school's dance team shortly thereafter.
Dr. Greenfield explained that roughly 10% of Chiari malformation cases have a genetic component; however, it is quite rare for multiple siblings within the same family to share this diagnosis. Fortunately, the couple's eldest two children tested negative for the condition, providing some solace amidst the family's struggles.
The Higginbotham family's story highlights the remarkable resilience of parents navigating the complex world of genetic health issues. Their experience with Chiari malformation serves as a reminder of the importance of advocating for one's health, especially when faced with unusual symptoms.
Note: The information provided in this article is for educational purposes only and is not intended as medical advice. Always consult with a healthcare professional before starting any new medication or treatment.
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