Ashlynn Jones: 2025 Double Helix Dash Childhood Champion

By Lillie Mermoud

Ashlynn Jones is a true champion. At 11 years old, she has overcome 

incredible challenges in her life, including a diagnosis of CHAMP1 disorder. Patients with this rare genetic disorder are lovingly called “CHAMP1ONS”, and she truly embodies the name. Ashlynn is a champion for children facing adversity, especially those navigating the complexities of genetic disorders. 

Ashlynn is HudsonAlpha Institute for Biotechnology’s 2025 Double Helix Dash Childhood Champion. The Double Helix Dash is an annual 5K and 1-mile run hosted on HudsonAlpha’s campus to help raise funds for childhood genetic disorder research and the Smith Family Clinic for Genome Medicine, HudsonAlpha’s nonprofit genetic diagnostic clinic that diagnosed Ashlynn with CHAMP1.

“Not having a diagnosis leaves you in the dark,” said Ashlyn’s adoptive mother, Brittanie. “Once you get a diagnosis, that’s your portal to understanding your child in a better way and finding better ways to support them. You learn how to advocate for yourself and your child and how to care for them. Ashlynn being a Childhood Champion will help people realize how much more there is to learn about CHAMP1 and other conditions like it, and raise support for HudsonAlpha’s important work in that space.”

Get to know Ashlynn, learn more about the role the Smith Family Clinic played in giving her a life-changing diagnosis, and see how you can get involved through HudsonAlpha’s 2025 Double Helix Dash.

Navigating differences

At 11, Ashlynn is an outgoing, social child who loves school, playing with friends, and channeling her energy through cheerleading.

From the time Ashlynn was little, Brittanie noticed Ashlynn’s differences—Ashlynn had a small head and mouth, vision issues, and delayed milestones. She didn’t walk until two and a half and later needed speech therapy due to her enlarged mouth. Despite her challenges, Ashlynn struggled for years to get proper support.

Brittanie has known her since she was born. In 2020, after Ashlynn’s parents passed away, Brittanie welcomed the then-6-year-old into her home in Scottsboro, AL. 

“I’ve known Ashlynn all her life,” said Brittanie. “At first, it was hard to tell there were differences when she was very little, but as she grew up, I noticed her physical differences and how her toddler behaviors weren’t changing. It was like she was on pause.”

Searching for a diagnosis

When Brittanie took over Ashlynn’s care, she discovered Ashlynn had not seen a doctor since she was two years old. Before searching for answers to her differences, she had to catch up on years of missed medical care.

After more than a year of catching up on appointments, Brittanie took Ashlynn to specialists in Birmingham. She was concerned about Ashlynn’s symptoms and the possibility of inherited conditions, stemming from her biological mother’s experience with a rare blood disorder and breast cancer.

Balancing frequent trips to Birmingham with caring for her sons was challenging, so Brittanie started looking for help closer to home. In 2024, Ashlynn’s new pediatrician in Scottsboro recommended another round of genetic testing, leading them to Dr. Anna Hurst, the medical geneticist at Smith Family Clinic for Genomic Medicine in Huntsville and the University of Alabama at Birmingham. 

“I was at my wit’s end because I knew there had to be some genetic cause underneath it all, and I didn’t know what it was, but I wanted to give it another try and find an answer,” said Brittanie.

A rare diagnosis paves the way for the road ahead

After meeting with Dr. Hurst and genetic counselor Tanner Coleman, Ashlynn underwent another round of genetic testing. Testing revealed Ashlynn has a rare CHAMP1 gene mutation that explains all her symptoms. The diagnosis was a first for the Smith Family Clinic, as CHAMP1 had only been discovered a few years earlier, explaining why her earlier tests had been inconclusive.

“When they called me to come in for a diagnosis, I felt anxious,” said Brittanie. “I didn’t know what to expect, but the CHAMP1 diagnosis explained everything I never could before and helped me feel like I could take better care of Ashlynn. I wish we could have had this information sooner.”

With a diagnosis in hand, Brittanie felt better empowered to advocate for Ashlynn’s care. While Ashlynn continues to see an endocrinologist for the hormonal effects of CHAMP1, her speech therapy is no longer needed. Brittanie also connected with other CHAMP1 families online, and just three weeks after Ashlynn’s diagnosis, she and Ashlynn attended the CHAMP1 Family & Scientific Engagement Conference in Orlando, FL, hosted by the CHAMP1 Research Foundation.

At the conference, Brittanie learned CHAMP1 disorders often cause more severe symptoms, such as mobility issues and nonverbal communication, but Ashlynn is thriving in many ways other CHAMP1 children are not. Researchers at the conference took an interest in Ashlynn’s case, seeing an opportunity to better understand the disorder. This opportunity to get involved and help others gave Brittanie and Ashlynn hope.

“Ashlynn is aware of her diagnosis and thinks it’s cool because it makes her rare,” said Brittanie. “She can be a voice for a lot of children who don’t have voices and is excited to be the pathway to new discoveries.”

As Brittanie looks ahead to her family’s future, she feels as if they are moving in the right direction thanks to Ashlynn’s diagnosis. “Ashlynn has overcome every obstacle that’s been put in front of her,” said Brittanie. “Her progress may not be moving fast compared to other children, but she’s moving forward. Her diagnosis gives us a new set of expectations because those typical milestones don’t count for her anymore. I know she’s doing everything she should be doing for someone with her diagnosis, and it gives me hope.”