4 American Sisters Diagnosed With the Same Rare Brain Disorder That Causes Paralysis; All About Chiari Malformation

Parents of four sisters from West Virginia are living through a medical nightmare after all of them were diagnosed with the same rare brain condition that causes paralysis. Paul and Ashlee Higginbotham

– parents to six children say they had seen it all, with a lot of illness and tantrums, when it came to kids’ illnesses. But they were baffled by the behaviour of their youngest daughter, Austyn. The parents say Austyn was never happy and content, never slept, and cried constantly. “She was never smiling, never laughing," Ashlee told CBS News, and suffered from mild developmental delays and a tremor. At 18 months old, genetic testing found she had a genetic condition known as Chiari malformation - a disorder that happens when part of the brain does not fit properly inside the skull and pushes into the spinal canal. According to experts, the condition causes weakness, headaches, scoliosis, nerve pain, and even paralysis if neglected and not treated properly. "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,” said Ashlee. Since Austyn’s symptoms only increased, it was found that her brain was putting pressure on her spine and blocking spinal fluid, which meant she had to undergo brain surgery. The Higginbothams traveled from West Virginia to New York for the procedure, and Austyn had a successful transformation. “She was smiley. It was like the pain she’d always felt was gone," Ashlee recalled.

The relief did not last long

However, it was just the beginning of another nightmare, as just five days later, their three-year-old daughter Amelia was diagnosed with the same condition along with a tethered spinal cord, which again meant surgery. Next was the turn of seven-year-old Aubrey, who started acting differently - she was moody, withdrawn, and suffering recurrent urinary tract infections. By the end of the year, three sisters had endured complex spinal and brain surgeries. However, they were not done yet. Next was the turn of the eldest daughter, 11-year-old Adalee, who was diagnosed after battling years of leg pain. "It was such a blur of, 'you’ve got to be kidding,'" Ashlee said. "You hear of people having one or two kids [with Chiari malformation], but four?"

Doctors say it is unbelievably rare

Doctors who treated the sisters said it’s “unbelievably rare” for four siblings to share the same condition, as only around 10 per cent of Chiari cases are genetic. However, now that all four have had their diagnoses reviewed, both Ashlee and Paul are relieved. “It is a relief to finally see the children healthy. Dr. Greenfield gave us our family back, and that is the most amazing gift anyone could get,” Ashlee said.

What is Chiari malformation?

A Chiari malformation is a growth abnormality where brain tissue in the lower back of your skull extends into your spinal canal - the base of your skull. Doctors say it happens because of a structural problem like a smaller-than-expected skull size. If you do not have enough room in your skull, part of your brain, specifically your cerebellum, will grow downward where there’s extra space in an opening at the base of your skull. Your cerebellum is the part of your brain that helps with your muscle movements, posture, balance, speech, and coordination. It causes symptoms that affect the function of this part of your brain, like loss of balance.