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SALT LAKE CITY — For 7-year-old Scarlet Hill and her mother, getting a diagnosis for Scarlet's medical condition changed everything.
Scarlet lives with her family in Eden, Weber County. She has received treatment for developmental delays and seizures since she was an infant, and doctors have been able to help her learn to walk, talk and ride a bike.
Dr. Josh Bonkowsky, medical director for the Center for Personalized Medicine at Primary Children's Hospital, recently encouraged Cassandra Hill to do a second round of DNA testing for her daughter, since there have been so many developments in genetics since she was first tested.
"We got lucky," Hill said about receiving Scarlet's diagnosis.
She said the diagnosis, gene TUBB2B tublinopathies, is pretty new, but they have been able to find a community of people with similar conditions, including one 3-year-old in Salt Lake City.
Now, Primary Children's Hospital is expanding its genetic medicine program, and the Hills want everyone to know about it.
The Center for Personalized Medicine, a partnership with the hospital and the University of Utah Heath, just received a $4.5 million grant from the Warren Alpert Foundation. That grant was matched by donations to Intermountain Health's Primary Promise campaign, and the resulting $9 million will create Primary Children's Gene Kids, a three-year initiative to help children with genetic conditions.
Bonkowsky encouraged doctors not to hesitate to refer someone to the center for genetic testing. He said the program can diagnose through telemedicine now and is available for people who live in rural areas or who don't speak English — it's for anyone.
He said the technology is almost entirely new in the last three years, so many children can be tested again. The goal is to roll out Primary Children's Gene Kids quickly because it makes such a difference for people with genetic conditions.
Since her daughter's recent diagnosis, Hill has been able to connect with other parents through a Facebook group to learn what to expect as Scarlet continues growing and for treatment information. She also said it has been amazing to help others whose children are reaching stages she and Scarlet have already gone through.
"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," she said.
Hill said the diagnosis hasn't changed Scarlet's treatment much since her doctors were already proactively treating for her symptoms.
Scarlet was fitted for a new set of orthoses on Friday at Shriners Salt Lake City and said, "These are perfect," after trying them on and walking around with them for the first time.
Hill said her daughter's physical mobility "is all due to Shriners. We love Shriners." The hospital in Salt Lake City provides pediatric orthopedic care for a wide range of diseases, including some genetic diseases.
Hill hopes more children older than her daughter with the same condition get tested so she can connect with even more parents who have gone through their situation.
"Don't hesitate, and just go do it, because there's a good chance that you'll get some answers," she said.
One of the unique things about Primary Children's Gene Kids, according to Bonkowsky, is that the clinical genetic diagnosis belongs to the child and their family — they can bring it with them wherever they go. He said this is unique because in most places, taking the diagnosis with you is not an option or is expensive.
He said sometimes it is really clear that a child has a genetic disease; other times it is harder to tell, but he encouraged people who think their child may have a genetic disease to talk to their doctor, who can then consult with Primary Children's Hospital.
Over 7,000 genetic diseases have been discovered but cures are only available for a few of those, according to Primary Children's. Primary Children's Gene Kids is hoping to change that as more children are tested and treated.
