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.

KSL 5 TV Live

KSL Give-A-Thon

Ysabelle Cuevas a is a nurse at Intermountain Primary Children’s Hospital and also a also celebra...

Angie Denison and Michael Houck, KSL TV

Pop Star Nurse: Ysabelle Cueva pursues both of her passions

By day, Ysabelle Cuevas is a registered nurse at Intermountain Primary Children’s Hospital. But her other passion is inspiring others with her music.

24 days ago

Khloee’s life took an unexpected turn when she was diagnosed with scoliosis, a condition where th...

Angie Denison

Khloee’s journey: Overcoming scoliosis with courage and cheer

Khloee’s life took an unexpected turn when she was diagnosed with scoliosis, a condition where the spine curves abnormally.

25 days ago


Angie Denison

Whit Bowman: A story of resilience and hope

Facing life-threatening complications before he was born Whit defied the odds and continues to inspire those around him.

26 days ago

Ollie Judy, a 3-year-old boy who suffers from a rare genetic disease called CD-K. Ollie is only the...

Tamara Vaifanua and Mary Culbertson, KSL TV

Idaho family celebrates Primary Children’s Hospital for the care they receive for 3-year-old Ollie

3-year-old Ollie battles a rare genetic disorder called CD-k. His family travels weekly from Idaho to Primary Children's Hospital to get him the care he needs.

8 months ago

Give A Thon...

Madison Swenson

How to donate to Primary Children’s Hospital during KSL’s Give-A-Thon

The annual KSL Give-A-Thon is Wednesday, Nov. 30 in partnership with Intermountain Primary Children's Hospital. Here's how you can donate.

2 years ago


Carole Mikita

Family of boy with rare genetic disorder thankful for care at Primary Children’s

With a big smile and a clap of his hand, anyone can tell that Emmett Bleyle is a lively, happy 5-year-old. His parents will tell you that every day of his life is a gift.

2 years ago

Sponsored Articles

Photo courtesy of Artists of Ballet West...

Ballet West

The rising demand for ballet tickets: why they’re harder to get

Ballet West’s box office is experiencing demand they’ve never seen before, leaving many interested patrons unable to secure tickets they want.

Electrician repairing ceiling fan with lamps indoors...

Lighting Design

Stay cool this summer with ceiling fans

When used correctly, ceiling fans help circulate cool and warm air. They can also help you save on utilities.

Side view at diverse group of children sitting in row at school classroom and using laptops...

PC Laptops

5 internet safety tips for kids

Read these tips about internet safety for kids so that your children can use this tool for learning and discovery in positive ways.

Women hold card for scanning key card to access Photocopier Security system concept...

Les Olson

Why printer security should be top of mind for your business

Connected printers have vulnerable endpoints that are an easy target for cyber thieves. Protect your business with these tips.

Modern chandelier hanging from a white slanted ceiling with windows in the backgruond...

Lighting Design

Light up your home with these top lighting trends for 2024

Check out the latest lighting design trends for 2024 and tips on how you can incorporate them into your home.

Technician woman fixing hardware of desktop computer. Close up....

PC Laptops

Tips for hassle-free computer repairs

Experiencing a glitch in your computer can be frustrating, but with these tips you can have your computer repaired without the stress.

Scarlet’s journey: Unraveling the ribbons of genetic secrets