Paul and Ashlee Higginbotham, a couple from West Virginia, thought they had seen it all as parents of six children. They had seen all the illnesses and tantrums. However, nothing prepared them for the odd behaviour of their youngest daughter, Austyn.The child was “just not happy,” and “never content,” her mother told CBS News. Austyn never slept and cried constantly as an infant. As a toddler, she was “never smiling, never laughing,” her mother added. The child had mild developmental delays and a tremor. After months of sleepless nights and growing concern, the family turned to genetic testing. When the results came back, they were shocked. The 18-month-old Austyn was diagnosed with Chiari malformation, a rare brain condition.
What is Chiari malformation?
According to the NHS, a Chiari malformation occurs when the lower part of the brain pushes down into the spinal canal. This is a rare condition. Chiari malformation affects about 1 in 2,000 people, as per Dr. David Harter, director of pediatric neurosurgery at NYU Langone, Most are born with it, and while its exact cause remains unknown.These conditions are caused by problems in the structure of the brain and skull. There are 4 main types, but type 1, called Chiari I, is the most common.In Chiari I, the lowest part of the back of the brain extends into the spinal canal, leading to pressure on the brainstem and spinal cord, and obstructing the flow of fluid.
Symptoms of Chiari malformation
In many people, Chiari I malformation will not have any symptoms. It is often found after an MRI scan of the brain. As per the NHS, in those who develop symptoms include:
- headaches – mostly at the back of the head and may be brought on or made worse by coughing, straining, sneezing or bending over
- neck pain
- dizziness and balance problems
- muscle weakness
- numbness or tingling in the arms or legs
- blurred vision, double vision, and sensitivity to light
- swallowing problems
- hearing loss and tinnitus
- feeling and being sick
- difficulty sleeping (insomnia) and clinical depression
Those who develop syringomyelia may also experience problems using their hands, difficulty walking, pain, and problems with bladder or bowel control.
Sisters diagnosed with the same condition
Pic courtesy: Facebook/ Ashlee Taylor Higginbotham
Upon the diagnosis, the family traveled from West Virginia to New York City. Further tests revealed that Austyn’s spinal cord was under severe compression, blocking the flow of spinal fluid. She needed brain surgery. Dr. Jeffrey Greenfield performed a decompression surgery in March 2023.After the surgery, Austyn woke up different. “She was ready to go. She was trying to get out of bed, and she was trying to walk. She was smiley. It was like the pain she’d always felt was gone, and the pain of surgery didn’t match what she’d always felt. She was just ready to run laps around the ICU,” the mother recalled. “When we did the follow-up with Dr. Greenfield, I told him, ‘You gave me her laugh.'” When the family thought their challenging days were behind, 3-year-old Amelia fell sick. This was just five days after returning home. They thought it was Lyme disease and took her to the hospital, only to find that Amelia also had Chiari malformation, along with a tethered spinal cord, which, according to the NIH, is a condition in which the spinal cord attaches abnormally to surrounding tissue.Amelia underwent two surgeries in October 2023, both performed by Dr. Greenfield. She recovered quickly, but the family’s ordeal was far from over.
Not long after, the couple noticed their 7-year-old daughter, Aubrey, was being unusually moody and suffered frequent urinary infections. Recognizing the pattern, the mother pushed for an MRI, and her instincts were right. Aubrey, too, had both Chiari malformation and a tethered spinal cord. The child underwent surgery in November 2023. “She was our happy kid, and it was like one day we were losing her,” Ashlee said. “After surgery, we got her back.”Then came the next. 11-year-old Adalee, who had long complained of leg pain, was diagnosed with the same conditions. Adalee underwent surgery in March 2025 and made a strong recovery, even joining her school’s dance team.The doctor explained that 10% of Chiari malformation cases have a genetic link; however, it’s rare for multiple siblings to share the diagnosis.The eldest two children tested negative for the condition. 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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