Estimated read time: 4-5 minutes
- Skylar Hubbard, 4, battles a rare disorder called beta-mannosidosis, known to affect only 50 people globally.
- Skylar recently underwent a bone marrow transplant at Primary Children's Hospital to slow progression.
- Her family is working to raise $521,000 for enzyme therapy, potentially aiding rare disease treatment.
SALT LAKE CITY — Skylar Hubbard has been fighting since she was born prematurely. Placed into foster care as an infant, Skylar was officially adopted by the Hubbard family at age 2.
"Skylar has already defied the odds," said Skylar's mother, Erin Hubbard.
Now, at 4 years old, Skylar is once again proving she is a warrior. As she battles an ultra-rare metabolic disorder, her family is working to raise money for research to find effective treatments for rare disorders to help her and other children around the world.
Before her first birthday, Skylar was diagnosed with beta-mannosidosis, a metabolic disorder caused by a mutation in the MANBA gene that leads to toxic material buildup in cells. Affecting about 50 individuals globally, the degenerative disorder slowly removes an individual's physical and cognitive abilities. Currently, it has no effective treatment.
The disorder varies widely in severity and can appear from infancy to adulthood. Common symptoms include intellectual disability, motor delays, speech and swallowing difficulties, vision and hearing loss, recurrent infections, seizures, scoliosis and behavioral challenges, according to Hubbard.
"A lot of these conditions are underdiagnosed," she explained. "It's a genetic condition that is very progressive. The more that we look for these patients and reach out to doctors, the more and more we find."
Skylar has lost her hearing, eyesight, and ability to eat; she is also experiencing changes in behavior. The symptoms will only worsen with time.
To help slow the disease's progression, Skylar is undergoing a bone marrow transplant at Primary Children's Hospital. The intense procedure requires every visitor to gown up and Skylar to quarantine in her room at all times. Originally from Phoenix, Hubbard and Skylar made the journey to Primary Children's to receive the treatment.
"It's been really nice interacting with the staff here. They have a lot of compassion for Skylar. She is not the easiest child to help. She sees someone come in with scrubs and she covers her head and avoids her bed," Hubbard explained. "They have been so good with her."
The Hubbard family has been separated since Skylar's hospitalization, which began over a month ago. With her husband away for work, four sons in South Carolina with her parents, and Skylar in the hospital, being split up has been yet another challenge for Hubbard and her family.
"We have been fighting for Skylar since the beginning. I think it's been really good for our boys to rally around her. They have developed a lot of empathy," Hubbard said. "It's definitely brought us closer as a family."
Skylar's days are anything but easy. The morning starts with vitals, oral care four times a day, visits from nurses and a trip to the swingset in her lobby area. Her "energetic" nature is infectious, regardless of the pain she is in. Skylar is constantly looking at a book with pictures of herself doing her favorite activities, such as jumping on a trampoline and going to get a treat with her brothers.
"She's a fighter," Hubbard said. "She is so strong."
With her hearing loss, the Hubbards have used sign language to communicate with Skylar for years. Her sign name means "brave," indicating her drive long before her diagnosis.
Still, bone marrow replacement is only a temporary fix. While no cure is currently known, an enzyme replacement therapy being developed at UC Irvine could potentially stop the progression of beta-mannosidosis. With only five families with young children affected by the disorder nationwide, the funding for the treatment has been left entirely up to the families.
To fund the therapy, the Hubbards have paired with organizations and the other families to form the Lost Enzyme Project. The organization hopes to raise $521,000 by August to fund treatment and raise awareness for the disease.
"We have to get her past that finish line and raise that money. We want them to participate in the trial and receive the treatment that will save their lives," Hubbard said.
The therapy would benefit individuals with any rare disease, not just beta-mannosidosis.
"This is groundbreaking. Once it's developed, it's going to be a game changer for a lot of rare diseases," Hubbard said. "This enzyme crosses the blood-brain barrier, whereas a lot of other enzymes don't."
For more information about beta-mannosidosis, visit the Lost Enzyme Project website.
