
By Lillie Mermoud
Reagan was diagnosed with autism spectrum disorder when she was 18 months old, a diagnosis that never sat quite right with Reagan’s mother, Kristi, who was a nurse at the time. Kristi knew there were more complexities to what Reagan faced but did not realize until much later that genetic testing could be the key to learning more about her daughter.
Almost 16 years later, Reagan received a diagnosis from the Smith Family Clinic for Genomic Medicine, a genetic diagnostics clinic on the campus of HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. Her diagnosis revealed a rare genetic neurological disorder that explains the range of symptoms she has faced over the years, including autism.
Reagan’s journey with autism
At 18 years old, Reagan’s personality is as bright as the clothes she likes to wear. She radiates confidence, loves to sing and dance, and takes the term “dopamine dressing” to a whole new level with her playful, colorful outfits. Like most people with autism, Reagan feels more comfortable with a routine and structure, and even though she does not talk with others much, she is known by friends and family for her sense of humor.
Kristi knew Reagan was different from other children her age since she was little. As an infant, Reagan did not respond to her own name and did not make eye contact with others. She also struggled to sit up and had low muscle tone.
With her medical background, Kristi knew something must be different but could not pinpoint a root cause until one day, her husband David mentioned he thought Reagan might be autistic. “As soon as he said it, I knew it must be right,” said Kristi.
Reagan was diagnosed shortly after with classic autism. Kristi knew there was more to what her daughter struggled with than autism, but she was not sure how to dig deeper and learn more.
Reagan as the driving force behind the founding of Reagan’s Clinic
In the years that followed Reagan’s diagnosis, Kristi focused on giving Reagan access to the resources she needed to thrive, such as speech and occupational therapy during school hours.
As she poured into Reagan’s care, Kristi’s experience as a nurse practitioner and the mother of a child with special healthcare needs helped her realize that children like Reagan often had limited access to the resources, evaluations, and overall medical support they needed.
In the summer of 2024, Kristi co-founded Reagan’s Clinic with Dr. Marc Hultquist out of a desire to help families like hers. The fully staffed clinic offers general pediatric medicine as well as services for complex medical and special healthcare needs.
“Reagan inspired the mission of our clinic,” said Kristi. “I feel empowered by the fact I’ve gone through this before and feel like I have a lot of knowledge, as a parent and a practitioner, that I can offer to help other families who face similar challenges. Our goal is to give families easier access to what they need.”
The path to a genetic diagnosis
Shortly after Kristi and Dr. Hultquist opened Reagan’s Clinic, they received a visit from Meagan Cochran, Director of the Smith Family Clinic, and Tanner Coleman, a genetic counselor at the Smith Family Clinic. Meagan and Tanner were interested in learning more about the practice’s services and shared about the services the Smith Family Clinic could offer to help Reagan’s Clinic patients.
As Kristi learned more about the Smith Family Clinic, she realized Reagan could benefit from genetic testing. “I didn’t realize the kind of information we could get from doing a genetic test,” said Kristi. “The team at Smith Family Clinic called me to get an appointment set up that same day, and I was so excited.”
Testing revealed Reagan has a genetic change in her TNPO2 gene, which is associated with developmental delays, neurological disorders, and some physical differences. Autism is often a symptom of this disorder, explaining Reagan’s range of symptoms and confirming Kristi’s instinct that Reagan struggled with more than classic autism.
“The team at the Smith Family Clinic did an amazing job making us feel comfortable and ensuring we understood everything,” said Kristi. “We learned that if we had done genetic testing five years ago, we would not have received a diagnosis because this gene was only discovered in 2021.”

Genetic testing provided more than a diagnosis for Reagan and her family
Most patients affected by TNPO2 disorders are usually much younger than Reagan, so Reagan is one of the oldest known patients to be diagnosed. Having a diagnosis enabled Kristi to look for support groups and other families who could relate to their experience. After connecting with a family support group on Facebook as well as the TNPO2 Foundation, Kristi was quickly contacted by other families who were interested in learning about Reagan’s story.
“A few parents have reached out asking what it was like going through Reagan’s development stages, and they were excited to know things could change and get better in time,” said Kristi. “It’s nice to feel like I’m helping people find that sense of connection and support.”
Reagan’s diagnosis provided Kristi a sense of relief – she finally had clarity about what Reagan faces. Reagan’s genetic tests also revealed she did not inherit her genetic condition from her parents, which meant Reagan’s sister is unlikely to have or pass on the same genetic condition to her own children.
“It’s awesome to have this information,” said Kristi. “Reagan’s diagnosis explains many of her symptoms and helps us set new expectations for what normal looks like for her. Reagan has autism, but now we know that’s not a complete picture of who she is. I feel like we know her even better than before and are better able to support her.”
Navigating the unknown with new resources
Kristi’s firsthand experience with the Smith Family Clinic has added value to her and Reagan’s life, as well as her patients’. Reagan’s Clinic refers many patients to Smith Family Clinic, and the two practices have become trusted partners.
“The Smith Family Clinic is an awesome resource in our community,” said Kristi. “The information we received about Reagan was helpful from a parent’s perspective as well as from a provider’s. We know what to expect and have a better idea of who Reagan is. I’m excited our Reagan’s Clinic families have the opportunity to receive the same kinds of answers about their children when we refer them to the Smith Family Clinic.”
As Reagan’s Clinic grows its patient base, Kristi is excited for the future, even if it remains uncertain for Reagan. With Reagan being one of the oldest people to be diagnosed, it is difficult for medical practitioners and scientists to know if this gene causes more complications as time goes on since there are no studies on patients past age 20. However, Reagan’s happy spirit, ease in life, and the incredible support she’s receiving from her family and her new TNPO2 community ensure she’s prepared to walk through life with all the resources she needs to thrive.