KCUR: Genetic testing for rare diseases is hard to find if you live in rural Kansas, but now there's help
By Bek Shackelford-Nwanganga
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.
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