Paul and Ashlee Higginbotham, from West Virginia, believed they had experienced just about everything as parents of six. They navigated various illnesses and tantrums, but nothing could prepare them for the unusual behavior of their youngest daughter, Austyn. According to her mother, Austyn was “just not happy” and “never content.” As an infant, she didn’t sleep much and cried frequently. As she grew, she was often described as “never smiling, never laughing.” Along with mild developmental delays, she had a tremor that concerned her parents. After months of sleepless nights, they decided to pursue genetic testing, only to discover that Austyn, at just 18 months old, had been diagnosed with Chiari malformation—a rare brain condition.
What is Chiari malformation?
Chiari malformation, as defined by the NHS, occurs when the lower part of the brain descends into the spinal canal. This condition affects approximately 1 in 2,000 individuals, according to Dr. David Harter, a pediatric neurosurgeon at NYU Langone. While most cases are congenital, the specific cause remains unclear. There are four recognized types, with Chiari I being the most prevalent.
Symptoms of Chiari malformation
Interestingly, many people with Chiari I malformation exhibit no symptoms. It’s often discovered incidentally during an MRI. However, those who do experience symptoms might have:
- Headaches, particularly at the back of the head, which may worsen with actions like coughing or bending
- Neck pain
- Dizziness and issues with balance
- Muscle weakness
- Numbness or tingling sensations in the arms and legs
- Blurred or double vision
- Swallowing difficulties
- Hearing loss or ringing in the ears
- Nausea and vomiting
- Insomnia and clinical depression
Furthermore, individuals with conditions like syringomyelia may face hand coordination challenges, walking difficulties, as well as bladder or bowel control issues.
Sisters diagnosed with the same condition
After Austyn’s diagnosis, her family went to New York City, where additional tests indicated severe compression of her spinal cord, necessitating brain surgery. Dr. Jeffrey Greenfield performed the decompression surgery in March 2023.
Post-surgery, Austyn seemed transformed. Her mother recalled how eager she was to get out of bed—she appeared ready to run laps around the ICU. “You gave me her laugh,” her mother told Dr. Greenfield during a follow-up visit.
Just days after returning home, however, their 3-year-old daughter Amelia became ill. Initially suspected to be Lyme disease, it was later confirmed that Amelia too had Chiari malformation along with a tethered spinal cord. Amelia had two surgeries in October 2023, again performed by Dr. Greenfield, and fortunately, she recovered well.
Not long after, Ashlee noticed unusual mood changes and frequent urinary infections in their 7-year-old daughter, Aubrey. Trusting her instincts, she advocated for an MRI, which revealed Aubrey also had Chiari malformation and a tethered spinal cord. Following surgery in November 2023, Aubrey’s joyful nature returned.
Then came the diagnosis for their 11-year-old daughter, Adalee. After enduring leg pain, she was found to have the same conditions. Adalee underwent surgery in March 2025 and recovered remarkably, even earning a spot on her school’s dance team.
Dr. Greenfield noted that about 10% of Chiari malformation cases have a genetic link, but it’s uncommon for siblings to share the same diagnosis. Interestingly, their eldest two children tested negative for the condition.
