SALINA, Kansas — When 3-year-old Sebastian was just a baby, his mom, Cynthia Olguin, could tell he was missing certain developmental milestones.
“I already knew he was special to me anyways, but I kind of noticed things that he wasn't hitting or even babbling or looking at us directly in our eyes,” Olguin said.
Olguin and her husband and two small sons live in a quiet neighborhood in Salina, which sits near the intersection of interstates 70 and 35 in north-central Kansas and is home to about 47,000 people.
Residents of Salina, like people in many more rural areas, have limited access to the most complete genetic testing methods used to detect rare disorders. Many families there face barriers to genetic testing, like long waitlists to see specialists, lengthy drives to providers or high costs. A research program at the Genomic Medicine Center at Children’s Mercy Kansas City is working to close the gap by partnering with physicians in mostly rural parts of Kansas.
Sebastian’s story
When Sebastian was 2, his doctor told his parents he might be autistic. The doctor recommended genetic testing, which is typical when a child is missing developmental milestones.
This is how the family was introduced to Genomic Answers for Kids, a research program at Children’s Mercy. The program partners with primary care physicians in rural areas to broaden access to testing.
The physicians are trained to identify families that may need genetic testing and enroll them into the program. Samples, like blood or saliva, are mailed to Kansas City.
Sebastian was tested in early 2023. Olguin said waiting for results, which took about six months, was stressful.
“It was a lot of waiting, anticipating. And I was already anxious with all the news at him possibly being autistic,” Olguin said.
Sebastian’s test results showed he has Beck-Fahrner Syndrome, a rare genetic disorder that was first identified in 2020. People with the syndrome typically have autistic characteristics, developmental delays, learning difficulties and a host of other health issues.
Olguin said she still has a lot to learn about Beck-Fahrner Syndrome, but it’s a huge relief to have a diagnosis.
“It's nice to have a name to what he has, not just, ‘Hey, he's autistic’ or ‘He has ADHD,” Olguin said.
Olguin’s husband, Jesus Lopez, said the diagnosis initially was difficult to hear.
“At first, I did break down. It was very hard. Heartbreaking,” Lopez said. “But as a father, I hung on.”
Lopez said he worried Sebastian could have inherited Beck-Fahrner Syndrome from him.
Olguin said she worried about this, too. But Sebastian’s results showed neither of the parents passed on the genetic mutation.
Like many other rare diseases, there isn’t a cure for Beck-Fahrner Syndrome. But Olguin said Sebastian started in-home therapy to help manage his behavior. People with the syndrome could be prone to seizures, something Olguin and Lopez know to watch for now.
“That's something we're hoping he never has. But there have been little scares,” Olguin said. “It's something that's important to know because that is very scary.”
Sebastian, who will be 4 in January, is nonverbal. But his parents said he still expresses himself. He vocalizes a lot, and his younger brother mimics him, so the Olguin-Lopez household is full of happy noises.
Olguin has since joined a Facebook group for families of children with Beck-Fahrner Syndrome. She said she’s found a community there, and she gets to see a glimpse of what Sebastian’s future may look like.
“He'll bloom at his time,’” Olguin said. “And it is possible for him eventually, obviously, to talk and express himself.”
Olguin and Lopez said had it not been for the free testing through Genomic Answers for Kids, they likely would’ve moved back to California, where they’re from, so they would be closer to genetic specialists. The couple said they hope in-depth genetic testing becomes easier to access for more families.
How Genomic Answers for Kids works in rural Kansas
Dr. Britton Zuccarelli, a pediatric neurologist at Salina Regional Health Center, serves as the liaison for Children’s Mercy researchers and their rural health outreach. Zuccarelli trained at Children’s Mercy before moving to Salina. Although she doesn’t specialize in genetics, her training in pediatric neurology better positions her to watch for genetic disorders. She also connects primary care physician clinics to the study.
“Then when providers have questions about results that they're receiving, they can come to me and ask,” Zuccarelli said. “I can be a bridge between the researchers with the raw data and then the clinicians who are seeing the patients.”
So far, clinics in Salina, Newton, Hosington and Great Bend are part of the program.
Zuccarelli said her practice orders cursory genetic testing for patients every day that is processed in an off-site lab, which is not part of the Children’s Mercy program.
Zuccarelli said the type of testing she orders generally only looks at a single gene or a small group of genes. If a person’s insurance covers it, it’s generally affordable.
“But sometimes, there's no coverage for genetic testing,” Zuccarelli said. “And that's when things like the Genomic Answers for Kids research program really come in handy because they can get the best genetic testing available at no cost.”
In a town like Salina, it’s rare to have someone like Zuccarelli. Specialists like her generally practice in larger communities. If it weren’t for her practice, Zuccarelli said people would likely have to drive for hours for genetic testing.
“Children's Mercy has some reach out into the Topeka area. But if you go west of here, there are no child neurologists until you get to Denver, Colorado,” she said. “If you go north, there are no child neurologists until you get to either Lincoln or Omaha, Nebraska.”
Zuccarelli, like most other specialists even in big cities, is in high demand. She said new patients generally have to wait at least three to six months to have their first visit, which can add extra time to the diagnosis odyssey for families with kids who have rare diseases.
Genomic Answers for Kids participants don’t need to see a specialist to get genetic testing, so it cuts down wait times.
But Zuccarelli said not everyone who has enrolled in Genomic Answers for Kids has had success. She said some of her patients are stuck in limbo waiting for a diagnosis.
Not all families get answers
Amy, who is using only her first name to protect her daughter’s medical privacy, is one of those frustrated parents.
Amy and her family live in a very rural area about 20 minutes from Salina. Their home is surrounded by vast, open fields and gravel roads.
“The only vehicles that go by are (from) the post office and UPS, so pretty out in the middle of nowhere,” Amy said.
Amy said she started noticing differences in her daughter’s coordination and muscle tone early on. She said her daughter seemed to develop more slowly than other kids. She had tremors, was slow to start talking and struggled to do things like play on the playground.
“I could not let her go on the playground unassisted because she would literally fall off of it,” Amy said. “She still falls all the time.”
Amy said when her daughter was younger, doctors tested her for multiple health issues but never found anything abnormal.
She was introduced to Genomic Answers for Kids by a co-worker whose son took part in the program. She said her co-worker's child, who exhibited symptoms similar to her daughter’s, was diagnosed with a rare genetic disorder by Children’s Mercy researchers. This gave Amy hope.
Amy’s daughter was enrolled in Genomic Answers for Kids and tested more than two years ago. She said she still doesn’t have results and feels the Children’s Mercy team has not kept her updated.
It’s hard to navigate and Amy said she feels like she’s walking in a fog.
“And then every so often, you think that the fog is about to lift,” she said. “If you just keep going, you're going to get some answers. Then you never get that far.”
Amy’s daughter is 11 now. Amy said she is confident and happy. She’s adapted to school settings to match her abilities while loving math and art.
Amy said she’s still hopeful that someday she’ll have a name for what her daughter struggles with and how to help.
“I know there's something going on,” she said. “I just want her to live the best life possible.”
Children’s Mercy experts weigh in
Ana Cohen is a researcher at Children’s Mercy who leads the rural outreach portion of the study. She said they’re working to improve communication with study participants before and after enrollment.
Cohen said in research, they don’t notify families if they haven’t found anything because the person tested may have a genetic disorder that hasn’t been discovered yet.
Cohen said they recently found a diagnosis for a family that was initially tested in 2015.
“So that's a very long time to wait,” she said. “But this is why we don't like to give a negative result back to a family, because we never stop looking.”
Cohen said the type of testing they use is the most advanced on the market. The human genome has thousands of genes, and instead of testing a small number of them like most basic genetic tests do, researchers at Children’s Mercy sequence the entire genome.
“There were at least two, if not three, patients that were recruited to the pilot study that had had previous panel testing that came back negative,” Cohen said. “And then we were able to find a diagnosis because we did a more comprehensive test for them.”
Cohen said the program helps build a more diverse and larger genomic database, which makes it easier to diagnose people with rare diseases. She said the goal is to eventually enroll 30,000 kids, but she hopes to find additional revenue streams to continue rural outreach even after the study is done.
Bek Shackelford-Nwanganga reports on health care disparities and access for the Kansas News Service. You can email her at r.shackelford@kcur.org.
The Kansas News Service is a collaboration of KCUR, Kansas Public Radio, KMUW and High Plains Public Radio focused on health, the social determinants of health and their connection to public policy.
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