Rangely family reflects on the hope and heartbreak of raising a child with a rare genetic disorder
RANGELY | “I have great kids. I couldn’t ask for better,” said Rangely’s Elizabeth Hagin by phone. As little ones squealed in the background and Hagin reminded one of them not to feed the family dog extra treats, joie de vivre (joy of life) is evident in her voice, despite the fact everything in the Hagin household isn’t idyllic.
Beyond the usual chaos of raising four kids — twins James and Jaxon are 7, and Zoe (3-½) and Zara (2-½) are “Irish twins,” siblings born less than a year apart — Zara has an extremely rare genetic disorder known as HIVEP2. According to Hagin, only 48 cases have been identified worldwide.
“Zara was different from the very beginning,” Hagin said. She had genetic testing during her pregnancy, and there were no indications anything was wrong. “When she was born it felt like she wasn’t ready yet, even though she wasn’t premature,” Hagin said.
With four little ones under the age of 5 at that point, daily life was a whirlwind. But before Zara’s first birthday, Hagin knew she wasn’t meeting the usual developmental milestones. “She wasn’t sitting, crawling, not interested in eating at all,” Hagin said. They contacted Horizons for an early intervention evaluation.
The family had already worked with Horizons, a nonprofit organization based in Steamboat Springs that offers services in a multi-county area for infants through adults. In Rio Blanco County, Horizons provides developmental screenings and early intervention for infants and children, supported living services for adults, as well as family support services that help qualifying families with copays and mileage for medical expenses.
“My boys were a little behind in speech,” Hagin said of her now 7-year-old twins. Her mother, a former school nurse, suggested calling Horizons to see about speech services. They “graduated” from Horizons by the time they were 3 years old. “I had no idea the extent [of services] that they offered,” she said of the program.
They started with speech and occupational therapy, and then vision therapy.
“We waited forever for a genetic appointment,” Hagin said. The pandemic further delayed the results. Hagin said she and her husband James, who just finished the flight mechanic program at CNCC and is job-hunting, have both had genetic testing to determine if Zara’s disorder is due to a recessive gene they may carry, but Zara’s condition is all her own.
“She was custom made for us,” Hagin said.
The family travels to Colorado Canyons Pediatric Rehab in Fruita weekly, as “trying to do telehealth OT with a 2-year-old just doesn’t work,” Hagin said, and their connection to Horizons continues.
“They’ve been amazing,” she said. “Sarah [Grimes] is so fantastic. She’s helped me to get connected with different places and made sure that we’re able to stay connected through the family support area of things.” Grimes is the service coordinator for the early intervention program and the family support program. Zara’s vision therapy is still conducted through Horizons.
Hagin said getting her daughter’s diagnosis was more than she expected. “I thought once we got her walking and got her moving, we might be done. It’s a lifelong thing for us.”
HIVEP2 causes varying degrees of developmental delays and intellectual disability. Hagin said the long-term prognosis is unclear, because there are so few cases diagnosed. Horizons has been invaluable, Hagin said.
“I have needed a lot of help and a lot of support. There have been breakdowns. Sarah has been so helpful getting me exactly what I need.”
Zara uses a frog-hop crawl to get around, has orthotics and a compression suit that help her with muscle weakness, and loves to be around her mom, dad, and siblings.
“She’s happiest when everyone’s home,” Hagin said.
Zara gets all her nutrition from a bottle with a specific nipple shape, but Hagin is glad she can take the bottle and doesn’t require a feeding tube.
“She’s starting to get some 2-year-old attitude and is interested in communicating,” Hagin said. “It’s amazing how someone who cannot talk can communicate as well as she does. She pats a lot; she pats everyone. She will put her face right in front of you if she wants your attention.”
A communication device, a kind of table specially set up with words, may help Zara communicate with others, while a specially designed adaptive stroller would give Zara a different perspective on the world around her. Those options are being evaluated. Horizons Family Support has helped with some feeding therapy items, such as a special high chair.
Hagin said Zara is a perfect fit for their family. “You never want anything to be harder for your kids than it has to be. However, honestly, she is such a part of our family I cannot imagine life otherwise. I wouldn’t change her for anything.”
Hagin encourages parents who think their child may have issues to get them checked out. “I don’t think we’d be where we are if we hadn’t started when we did. Any advantage you can help them with is completely worth it. Horizons makes it easy.”
If you have any questions or concerns about your child’s development, please contact Sarah Grimes at [email protected] or 541-670-8415.
You can also make a donation to Horizons on Colorado Gives Day, Dec. 8. Visit coloradogives.org and search for “Horizons”.
