Paul and Ashlee Higginbotham knew what was and wasn’t normal for their kids. As the parents of six, they had seen a lot of illnesses and tantrums. But they were baffled by the behavior of their youngest daughter, Austyn.
Austyn was “just not happy” and “never content,” Ashlee said. As an infant, she never slept and cried constantly. She was “never smiling, never laughing,” the toddler’s mother recalled. Austyn had mild developmental delays and a tremor.
At 18 months old, genetic testing revealed that Austyn had a genetic condition called Chiari malformation. The condition occurs when the lower part of the brain does not fit inside the skull and bulges out of the opening where the skull joins the spinal cord, explained Dr. David Harter, director of pediatric neurosurgery at NYU Langone.
This malformation puts pressure on both the brain and spinal cord and can cause symptoms like limb weakness, difficulty breathing, scoliosis, headaches, and nerve pain. If left untreated, it can result in lifelong pain and problems such as paralysis and nerve damage. Most Chiari malformation patients are born with it. The rare condition affects about 1 in every 2,000 people and has no clear cause, Dr. Harter said.
Ashlee admitted she had never heard of Chiari malformation before. “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,” she said.
### Trying to Hold It Together
Further tests showed that Austyn had severe compression in her spine and a spinal fluid blockage, meaning she would need brain surgery.
“Life doesn’t stop. We had five other kids, their lives were still moving, and we were trying to hold it together but we’re terrified,” Ashlee said. “We were traveling three and a half hours away for MRIs, bloodwork, and all these different specialists. Now we need brain surgery? Life was chaos.”
The Higginbothams traveled from West Virginia to New York City to seek care from Dr. Jeffrey Greenfield, a pediatric neurosurgeon at NewYork-Presbyterian Hospital.
### The Surgery
In most cases, surgeons delicately decompress the brain by elevating muscle, drilling bone, and expanding the dura—the sac surrounding the brain. For very young patients like Austyn, surgeons may only remove some of the bone. Both procedures aim to give the brain sufficient space and restore the flow of spinal fluid, Dr. Greenfield explained.
Austyn underwent surgery in March 2023. When she woke up a few hours later, she was like a different child, Ashlee said.
“She was ready to go. She was trying to get out of bed, 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,” Ashlee recalled.
“When we did the follow-up with Dr. Greenfield, I told him, ‘You gave me her laugh.’”
### Another Shock
The Higginbothams were relieved to find light at the end of the tunnel. But just days later, their world would be rocked again.
Five days after returning from New York, the family took Austyn to a local follow-up appointment. They also brought along Amelia, then 3, because they feared she was showing symptoms of Lyme disease after a recent tick bite.
Imaging revealed that Amelia also had Chiari malformation, coupled with a tethered spinal cord. A tethered cord occurs when the spinal cord becomes abnormally attached to surrounding tissue, such as bones, muscle, or skin. It is seen in about 5% of Chiari malformation patients, Dr. Greenfield said.
Amelia would need surgery to correct the Chiari malformation as well as a procedure to release the tether. The Higginbothams returned to New York, where Dr. Greenfield completed both surgeries in October 2023.
Sitting in the waiting room was “just as nerve-wracking as the first time,” Paul said. “It feels like days that you’re just sitting there, waiting to see what the outcome is.”
Like Austyn, Amelia recovered quickly. But for the Higginbothams, more challenges lay ahead.
### A Pattern Emerges
Their daughter Aubrey, then 7, was moody and had frequent urinary tract infections. One day, Ashlee realized the symptoms were familiar.
“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.”
Sure enough, Aubrey had both Chiari malformation and a tethered spinal cord.
Less than a month after Amelia’s surgery, the Higginbothams were back in Dr. Greenfield’s office.
### “You’ve Got to Be Kidding”
Aubrey’s operation in November 2023 went well, and soon she returned to the happy child her parents recognized. But the rollercoaster wasn’t over yet.
Adalee, then 11, had complained of leg pain for years, but her parents believed it was growing pains. In sixth grade, the pain became so severe that she spent much of her free time in bed.
As her symptoms escalated, the family sought imaging, which showed the same issues as her younger siblings: 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?”
About 10% of Chiari malformation cases have a genetic link, Dr. Greenfield said, but it’s usually between a parent and child. He admitted feeling “a little bit of disbelief” as the diagnoses kept coming.
The couple’s growing knowledge about Chiari malformations, tethered cords, and their symptoms helped piece things together.
Dr. Greenfield decided to operate on Adalee’s tethered cord, which was causing her pain, but not on the Chiari malformation itself. Dr. Harter said if a Chiari malformation isn’t causing symptoms, doctors prefer to monitor it rather than operate immediately.
Adalee recovered from surgery in March 2025 and later joined her school’s dance team, Ashlee shared.
### The Most Amazing Gift
The Higginbothams screened their eldest two children for Chiari malformations; thankfully, neither has the condition.
Austyn underwent a successful follow-up surgery in February 2025. Ashlee noted that about 20% of children who have the minimal operation will require a second procedure.
Now, the family is enjoying their “new normal,” Ashlee said. The house is full of laughter and smiles. Austyn (4), Amelia (6), Aubrey (9), and Adalee (12) are active and happy.
Some of the girls still experience occasional symptoms or pain, which Dr. Greenfield said is common in older children who require surgery for Chiari malformations. But it is nothing like before, the Higginbothams said.
“It is a relief,” Ashlee shared, “to finally see my children healthy.”
“Dr. Greenfield gave us our family back, and that is the most amazing gift anyone could get,” Ashlee said. “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.”
https://www.cbsnews.com/news/chiari-malformation-brain-condition-rare-diagnosis-new-york-presbyterian/
