Insight to Diagnosis The Stauffer Family

“It was a relief that the Clinic for Special Children was able to provide us with a diagnosis and save us from going for more testing,” explains Karen Stauffer. When she and her husband, Glenn, first noticed that their daughter, Veanne, was delayed in starting to walk, they became concerned.

“Our family recommended that we reach out to the Clinic to get genetic testing done,” says Karen. At their first appointment at the Clinic, Glenn and Karen opted to get carrier testing done through the Clinic’s Plain Insight Panel™ (PIP) test, to find out what genetic conditions they were both carriers for.

For Veanne, a specific genetic variant for which her parents matched proved to be her answer: METTL23. METTL23 is a gene important for brain function. Misspellings in METTL23 change how the brain understands, which leads to intellectual disability and developmental delays.

“After we knew what Veanne’s parents matched for from the PIP results, our laboratory did a targeted genetic test on Veanne to confirm her METTL23 diagnosis. The PIP results helped us narrow our focus to find the answer for Veanne’s condition and reduce unnecessary testing to get a diagnosis,” explains Dr. Laura Poskitt, Medical Director at the Clinic and Veanne’s provider.

For Glenn and Karen, the diagnosis helped explain what they were experiencing with Veanne and her behaviors, but they weren’t surprised. “I have an extended family member with the same diagnosis, and they reminded me a lot of Veanne. The PIP testing was very interesting and we were able to also test some of our other children for other things we were shown as carriers for. Dr. Poskitt is very thorough with information and helps us understand METTL23. We feel very comfortable visiting with her and find her very helpful,” shares Karen.

When asked about what it’s like to parent a child with developmental delays or intellectual disabilities, Karen explains, “You have to be patient and still be hopeful that they will keep on learning. Sometimes Veanne will get frustrated when she’s not understood, and we work through that with her.”

“We continuously work with her on communication. It’s getting easier to understand her talking as she ages, and it’s something that is just taking her longer,” she says.

Veanne is now a four-year-old and she loves to make food in her toy kitchen, be a helper for her family, and rock her doll to sleep. Next year, she will start school.