HAMLET — Watching Skyler Macedo, 8, playing at Castlewood Park with her 4-year-old sister, Chloee, one would never guess she lives with a rare and potentially fatal medical condition. But Skyler was born with Chiari malformation — a serious neurological disorder affecting only a few hundred-thousand people in the U.S.
Jenni Macedo, Skyler’s mother, said her first inclination something was wrong arrived late in the pregnancy.
“All the ultrasounds and everything were coming back good,” she said. “Then, in the final trimester, they did the extended testing and it came back that she was going to have Down syndrome.”
Macedo said she felt prepared since she had a diagnosis, but Skyler was born without any of the symptoms of Down syndrome.
“I asked, ‘Well, ok. What’s wrong?’ and they said, ‘Nothing. Take her home and be happy.’”
From birth all the way up until about 6 months old, Macedo said that Skyler “was just always sick with pneumonia, ear infections and stuff like that. She was always grabbing at the back of her head and they would tell me, ‘Oh no, it’s just a baby thing.’”
But Macedo, an experienced mother with two children, said she knew something was not right.
“When she started having uncontrollable seizures, they said, ‘Oh, they’re febrile seizures.’ I said, ‘I’m an EMT. My child’s not sick, she doesn’t have a fever. They’re not febrile.’”
The family was sent home, only to return on a later date. This time, a CT scan was done.
“They found out her brain was herniating down into her spinal cord, and that was causing the seizures,” Macedo said. “It took me over a year to find a neurosurgeon who would operate on her, because they don’t operate on babies. They just don’t do it. So she’s really a miracle.”
Skyler knows the disorder she’s fighting means she has to give up some of the activities she used to enjoy, such as playing sports through Hamlet Parks and Recreation.
“I can’t play soccer anymore because of headaches,” she said.
“She has leg fatigue as well,” Macedo said. “She played for four years. Mitchell Bowman and the city of Hamlet were the best thing that ever happened for her, because it was under doctor’s orders she was not to play. But it was something that she wanted to do and I discussed it with him and we made an agreement that we can do this, but he wanted me to coach, I had to be on the field.”
Macedo explained that Skyler’s final year of soccer was last year, because she can’t play with the bigger kids any longer due to surgery that removed parts of some of the bones in her neck.
“She was able to play down last year, but she can’t play down this year,” Macedo said. “The kids are huge. One hit to the back of her head, and she could be paralyzed.”
Macedo has organized a walk to fund Chiari research — the Conquer Chiari Walk Across America in Aberdeen — which is scheduled for September 17.
“What strikes me is cancer and autism and everything gets so much awareness,” she said. “But this doesn’t. The only reason I feel like I can say that is because my son has autism. I’m not out to attack anybody or anything, but I look at her condition and my son’s condition and hers is life-threatening. I’m not trying to downplay autism at all, but why can we not get awareness for this?”
Macedo said there are things her daughter will not be able to do because of Chiari malformation. Skyler will not be able to join to the military or be a blood or organ donor. She may not be able to have children. She faces a lifetime of periodic brain surgeries.
“They just do a brain surgery to restore fluid, to try to alleviate some of the headaches and pressure,” Macedo said. “She had her first surgery when she was two and another one when she was five.”
This year’s Conquer Chiari walk is the second Macedo has organized. She said her role is to solicit monetary donations or raffle items from businesses.
“We just want people to know about it,” she said. “There is no cure. But maybe there can be a cure.”
Participation in the walk is free. T-shirts will be provided for pre-registered walkers with a minimum donation of $25, and a light lunch will be served. The pre-registration deadline is Aug. 16, and Macedo said the best place to find updates is to visit the “Conquer Chiari Walk Across America Aberdeen, NC” event page on Facebook.
For more information about Chiari malformation, visit www.conquerchiari.org on the Web. For information about the walk, call 619-248-2783 or email [email protected]
Reach reporter Melonie McLaurin at 910-817-2673 and follow her on Twitter @meloniemclaurin.