By Maureen Gilmer, IU Health senior writer, email@example.com
Khloe Hilton is a familiar presence at Riley Hospital for Children. The 12-year-old sees more than a dozen specialists currently – 18 in all since she was a baby, by her mom’s count.
When she was born in Noblesville, she seemed pretty typical, Megan Hilton said of her daughter. But things began to change when she was a toddler.
That’s when she suffered her first seizure.
“We were at a park, and she was spinning on a ride when she dropped to the side, stiffened up and started convulsing,” Hilton recalled.
The episode lasted about two minutes, and Hilton called her pediatrician and took Khloe to IU Health North Hospital to be checked out.
That would be the first of many seizures, gastrointestinal issues and countless trips to Riley Hospital for Children at IU Health North and Downtown Indianapolis.
First diagnosed with generalized convulsive epilepsy, Khloe was under the care of Dr. Mandy Harris before the Riley neurologist passed away in 2017 from complications of type 1 diabetes.
Joining her in caring for Khloe was Dr. Laurence Walsh, a Riley neurologist and geneticist.
It was Riley geneticist Dr. Molly McPheron who would ultimately diagnose Khloe last year with a rare disorder called SCN8A that has only been recognized for the past decade.
SCN8A is known to affect fewer than 1,000 people worldwide. It can cause severe epilepsy, autism, developmental delays and other medical challenges. The gene SCN8A was isolated in humans by Dr. Michael Hammer, a geneticist who found the gene in his own daughter, Shay, soon after her death in 2011.
For Hilton and her husband, Scott, it was an answer at least. Before the diagnosis, they didn’t know what was causing Khloe’s issues. Now, they feel a sense of community with other parents of special-needs children, specifically those with SCN8A.
“When Khloe was 2, this test wasn’t out there. We had never heard of this,” Hilton said. “A lot of doctors hadn’t either. We know what we’re fighting now, so we do have hope.”
In the United States, a disease is considered rare if it affects fewer than 200,000 people, according to the Broad Institute. More than 7,000 diseases fit that bill, with about 25 million Americans living with a rare disease. The majority of these are genetic.
Rare Disease Day (Feb. 28) is an international event to raise awareness about the impact of rare diseases on patients’ lives and to emphasize the need for research.
Hilton and other parents like her have found support and education through the International SCN8A Alliance (https://scn8aalliance.org)and the Cute Syndrome Foundation, a name that has become synonymous with SCN8A. The Cute Syndrome is how one parent referred to her child’s disorder when there was no official name.
In the decade since the genetic disorder was identified, the Cute Syndrome Foundation has worked to advance awareness and research. In fact, Dr. Harris was honored with one of the first CUTIE Awards (Champions for Understanding, Treating, Investigating and Empowering those with SCN8A) in 2016.
Joining the group’s Facebook page gives parents like the Hiltons a “safe place” to ask questions and to vent when they’re having a bad day.
“It’s helpful to have people who understand what you’re going through,” Hilton said. “Unless you live the life of special needs or medically fragile children, it’s hard to understand or empathize.”
Unlike some people diagnosed with SCN8A, Khloe can walk (though she tires easily), and she is verbal to a point.
“She has speech delays, but she can let you know what she wants and doesn’t want. That’s a good and bad thing,” Hilton said with a laugh.
She goes to school three days a week, for about an hour each day, her mom said, though they are working toward longer periods in school.
Dr. Shamaila Waseem follows Khloe for gastroenterology, and Khloe is also followed by cardiology, urology, psychology, genetics, orthopedics, endocrinology, ophthalmology, developmental peds and dermatology, among others.
Needless to say, Khloe, who at 12 is already 5 feet, 5 inches tall, spends quite a bit of time at Riley. She tolerates the appointments fairly well, though she can be moody at times, her mom said.
“The doctors are great at working with her and being patient.”
But what she loves most is hanging out with the Child Life team, who keep her busy with videos, crafts, games and activities.
“She is deep in Riley,” Hilton said. “We bought our house four years ago to be closer to Riley, closer to the team that takes great care of her.”
Photos submitted and by Mike Dickbernd, IU Health visual journalist, firstname.lastname@example.org