Scarlet’s journey: Unraveling the ribbons of genetic secrets
May 16, 2024, 6:45 PM | Updated: 7:22 pm
SALT LAKE CITY — When Scarlet and her family participated in the 2022 Give-A-Thon, she was an active kindergartner with an undiagnosed genetic disorder that causes developmental delays and seizures.
What a difference two years, diligent caregivers, and scientific advancements have made.
“She had another round of genetic testing and finally has a diagnosis,” her mom, Cassandra Hill, said. “We have more answers now and a small community of kids with the same diagnosis to have support and greater understanding of things to expect. It has been awesome.”
Scarlet has been diagnosed with gene TUBB2B Tublinopathies, a group of conditions caused by variants in six tubulin genes that affect brain development and function and can result in seizures, developmental delays, and issues associated with the eye.
For part of her life, Scarlet was nonverbal and struggled with neurological issues and mobility. Genetic testing at Intermountain Primary Children’s Hospital helped give doctors a roadmap to help Scarlet when she was an infant. But it didn’t yield a precise diagnosis until this year, when Scarlet’s doctor suggested she try genetic testing again through the Primary Children’s Center for Personalized Medicine.
“He was so excited to get a diagnosis, he called me … within a minute of knowing,” Cassandra Hill said.
Scarlet is now 7 years old, and progressing in amazing ways. Treatments have minimized seizures and helped her walk. She likes to ride a tricycle. She’s communicating better verbally. She loves to play with friends and cousins, build things with blocks and magnet tiles, and play on her iPad. Perhaps most of all, she loves school and asks to go even on the weekends.
“The comprehensive care team at Primary Children’s Hospital is key, giving us resources and help, and reassuring me as a parent to be patient,” Cassandra Hill said. “It’s OK if things don’t work out now because we can try again later.”
Scarlet’s family, who lives in Eden, Utah, has connected with a couple hundred other families with kids like Scarlet around the world to share experiences and support one another.
“We are learning so much about the gene. It’s so cool to see, some of the other kids and their similarities to Scarlet — and also differences,” Cassandra Hill said. “It’s great to have an answer and to go forward and know what to expect.”
Money raised from the Give a thon helps fund the research that went into helping Scarlet’s family, and others like her, finally get a diagnosis. We hope you will give generously to support the work being done on behalf of the children. The Give a Thon will be next Thursday on May 23, but you can begin donating now at KSLKIDS.com.
