Once rare ailment now seen more often
Posted April 11
AUGUSTA, Ga. — Two-year-old Adalyn Dempsey, of Dearing, toddled around a playroom on the fourth floor of the Children's Hospital of Georgia at Augusta University, blissfully unaware she has a serious medical condition that also connects her to a very famous golfer who co-founded Augusta National Golf Club and the Masters Tournament.
Adalyn has Chiari Malformation and the late Bobby Jones had a related condition called syringomyelia that he lived with from 1944 until his death in 1971, according to the Chiari & Syringomyelia Foundation. There is a Bobby Jones Society that supports the work of that foundation and his grandson, Dr. Robert Tyre Jones IV, sits on its board.
The diagnosis actually covers a wide range of conditions and symptoms but is characterized by an inadequate amount of space at the back and base of the skull that can force part of the brain called the cerebellum through an opening for the spinal cord and press on the brain stem, and can sometimes block the normal flow of cerebral spinal fluid.
It was once thought to be fairly rare, perhaps affecting 1 in 1,000 births, but that was before the advent of widespread use of MRIs and some people who do not have symptoms initially may not be diagnosed until they are adults, so it may be more common, according to the National Institute of Neurological Disorders and Stroke.
"This is a very difficult disease to diagnose without the MRIs," said Dr. Ian Heger, chief of pediatric neurosurgery at the children's hospital. "So the initial sense of this being an orphan disease and not very common was really based on that old piece of information because we just didn't see it. People have these symptoms but at that point they were getting CT scans and they didn't really see what the problem was. When we started doing more and more MRIs and we started seeing Chiari malformations, it became apparent that this actually causes more symptoms than we initially thought."
Heger first began researching the condition just after college in the '90s when he went to work for a neurosurgeon who was interested in it and now has come full circle to treating it himself. Yet public awareness, and even awareness among doctors, is still lacking, he said.
"Doctors initially in the '90s didn't know what the condition was and labeled patients with psychiatric disorders," Heger said. "You would think over this much period of time you would see a lot more information getting disseminated but still I see patients who were told by their doctor, even neurologists, that this has nothing to do with your child's symptoms, Chiaris never cause any problems. There is still a lack of awareness out there. A lot of times parents are finding out about this just on their own volition. They get the MRI report and it has this name on it."
That's what Tiffani Dempsey did when Adalyn was diagnosed at age one after a routine MRI found her Chiari malformation. She had been born with hydrocephalus, excess spinal fluid on the brain, that can be caused by the malformation blocking the normal flow of that fluid, according to the NINDS. But when her mother went to look it up on the Internet, she quickly regretted it.
"That was scary," Dempsey said. "That was not a good thing to do."
She ended up calling Heger's office and in January 2016 he performed a decompression surgery to help relieve the pressure in her brain. Surgery is often the only option to help relieve that pressure and ensure there is room. One of the problems with the condition is it can cause a host of neurological symptoms because there are so many vital systems in that area or which pass through that area, Heger said.
"It's really the Grand Central Station of neurologic information," he said. While some do get complete relief from the surgery, many still have lingering symptoms and need ongoing care, Heger said.
In Adalyn's case, it is hard to see any problems with her as she romps around the playroom.
"She's done great, she really has," Dempsey said. "She runs and plays, and she's very smart." While it took her until 23 months to finally walk, Adalyn seems to be making up for lost time now.
And now seems to be a particularly good time to try to raise awareness about the condition, Heger said, during a "week where people are actually paying attention to things related to golf."