The medical journey for Marissa's baby, Everett, began with a premature birth at 31 weeks followed by a 143-day stay in the NICU. When he was eight weeks old, genetic testing delivered a life-altering diagnosis for their family. Everett was born with a hexokinase 1 mutation (HK1) — an ultra-rare neurodegenerative genetic condition found in less than 50 people across the world.
Everett's hexokinase enzyme has a broken "off switch" that forces the body to break down sugar continuously. Like a car engine locked in high gear with its accelerator jammed, Everett's cells run at a hyperactive pace, creating toxic byproducts that build up, cause damage, and leave vital blood and brain cells unable to handle their normal functions.
As a result, Everett is developmentally delayed and experiences frequent seizures and respiratory challenges. He relies on a feeding tube to eat, constant pulse oximeter monitoring, and frequent oxygen support and suctioning to breathe. Because there is no cure, Marissa provides round-the-clock care for Everett, managing daily seizures and recurrent trips to the emergency room.
Expert pediatric care for a complex case
"Everett needed a skilled pediatrician who could handle a medically complex case," said Marissa.
Before giving birth to Everett, Marissa strategically selected Carla Thompson, MD, FAAP, Pediatrics at ARC Bee Cave, as Everett's future pediatrician with Austin Regional Clinic (ARC).
Coupling advanced medical expertise with compassionate service, Marissa says Dr. Thompson has been the perfect match for Everett. Her comfortability providing coordinated, comprehensive health care for Everett has given her a sense of ease amid the uncertainty of his health, she says.
Dr. Thompson can conveniently message Marissa in ARC's MyChart patient portal and host virtual appointments, ensuring Everett receives the care he needs without having to leave home. ARC's highly accessible care is available to all Central Texas families with Same-Day and After Hours appointments during nights, weekends, and holidays.
"We're very accessible, so they always have access to a pediatrician," said Dr. Thompson.
The path to a cure: A family's journey of hope
Doctors told Marissa that only half of children with Everett's specific HK1 mutation survive to age eight, but Marissa is determined to ensure Everett, who is now 23 months old, defies the odds.
Last fall, Marissa learned about AlphaRose Theraptuics' RareLabs in Austin and the possibility of developing a personalized drug for Everett. This year, that possibility became a reality as the team began working toward a treatment designed specifically for his genetic condition. Bringing this potentially life-changing treatment to Everett is estimated to require $3 million.
Now, Marissa is fundraising with confident hope that she will find a cure for Everett's disease. Fueled by a mother's love for her son, Marissa is determined to save Everett's life and overcome any barriers standing in the way.
"We can potentially change the trajectory of Everett's life," Marissa says.
Visit ACureforEverett.org to learn more.
Schedule your appointment with ARC Pediatrics today
Dr. Thompson is accepting new appointments for patients ages 18 and under. To make an appointment with Dr. Thompson, call 512-272-4636 (512-ARC-INFO), book online, or in the ARC MyChart patient portal.