Copyright dailymail
A family in West Virginia were left baffled after four sisters were diagnosed with the same rare brain condition one after the other. Paul and Ashlee Higginbotham were shocked after their youngest daughter was diagnosed with Chiari malformation, a rare brain condition, at just 18 months old. But their nightmare was only just beginning as four of their six children would receive the same diagnosis. Chiari malformation occurs when the lower part of the brain doesn't fit inside the skull, and instead bulges out of the opening between the skull and the spinal cord. Most patients are born with the malformation, which occurs in one in every 2,000 people, while its cause currently remains unclear. Dr David Harter, director of pediatric neurosurgery at NYU Langone, told CBS News that it puts pressure on the brain and spinal cord and can cause symptoms such as weakness of the limbs, difficulty breathing, scoliosis, headaches and nerve pain. The condition, if left untreated, can result in lifelong pain as well as paralysis and nerve damage. The Higginbotham's youngest daughter, Austyn, was diagnosed with the condition after her behavior struck the parents as odd. Her mother, Ashlee, said Austyn was 'never content... never smiling, never laughing' and had mild developmental delays and a tremor. Through genetic testing, Austyn was diagnosed with the rare condition where she was found to have had severe compression in her spine and a spinal fluid blockage. 'That moment when Austyn's MRI results came up on my screen and we read the diagnosis of Chiari malformation - that was the moment our world was flipped upside down,' Ashlee told the outlet. The family travelled from West Virginia to New York City and Austyn underwent brain surgery. Dr Jeffrey Greenfield, a pediatric neurosurgeon at New York-Presbyterian Hospital, told the outlet that in cases involving young patients, like Austyn, surgeons can only remove some of the bone. The procedure is intended to allow the brain more space and restore flow of spinal fluid, Greenfield told CBS News. The surgery in March 2023 changed Austyn, as Ashlee said that her daughter woke up 'ready to go.' 'She was trying to get out of bed, 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,' Ashlee continued. 'She was just ready to run laps around the ICU. When we did the follow-up with Dr Greenfield, I told him, "You gave me her laugh."' But their joy was quickly dimmed after Austyn's follow up appointment ended in another diagnosis of Chiari malformation in their three-year-old daughter Amelia. Imaging revealed that Amelia was also suffering from a tethered spinal cord, which is seen in about five percent of patients diagnosed with Chiari malformation, and occurs when the spinal cord attaches to surrounding tissue. In October 2023, Amelia underwent the Chiari malformation surgery as well as a procedure to snip her tethered spinal cord. Paul told CBS News that sitting in the waiting room was 'just as nerve wracking as the first time.' 'It feels like days that you're just sitting there, waiting to see what the outcome is,' he added. Their second daughter who was diagnosed with Chiari malformation also recovered quickly, but it was then seven-year-old Aubrey who was struck by the condition. The Higginbothams said Aubrey became moody and began getting frequent urinary tract infections before they pieced together what was happening. 'I remember driving down the road, and it just clicked in my head. I was like "Oh my gosh, I need to get an order for an MRI. She needs to be checked for a tethered cord,"' Ashlee said. 'She was our happy kid, and it was like one day she woke up and was different, like a flip of a switch, and we were losing her. I wish I would have thought of it sooner.' Aubrey, like Amelia, was diagnosed with Chiari malformation and a tethered spinal cord and underwent surgery in November 2023. The seven-year-old recovered quickly like her younger sisters, but then 11-year-old Adalee began experiencing severe leg pain that had been worsening for years. Adalee, like her sisters, was subsequently diagnosed with Chiari malformation and a tethered spinal cord. 'It was such a blur of "You've got to be kidding,"' Ashlee said. 'You hear of people having one or two kids, but four?' Greenfield told the outlet that only about ten percent of Chiari cases are linked genetically. He said he felt 'a little bit of disbelief' as the Higginbotham daughters were diagnosed one after the other. Adalee received surgery for her tethered spinal cord, but not the Chiari malformation which wasn't presenting symptoms. Harter told the outlet that doctors typically won't operate unless necessary, but will continue to monitor the patient. After four cases in their family, the Higginbotham's two eldest children were screened for the malformation but did not have the condition. Austyn, now older, underwent a second successful surgery in February 2025. Ashlee said their big family is now enjoying the 'new normal' with their house full of happy, smiling children free from constant chronic pain. '[Dr Greenfield] gave us our family back, and that is the most amazing gift anyone could get,' Ashlee told the outlet. 'Some days we weren't sure how things would ever get better for our girls... It's been a whirlwind, but we're thankful we are where we are today.
