Kellen Hassell found time to think in a thousand miles of asphalt between Miami and Chapel Hill.
He ended the seven-day Wheeling for Wings ride Aug. 8 ready to face the challenges ahead and with more than $18,500 for Angelman syndrome research.
“Cycling is something that I found rather indispensible in order to cope and keep my own emotions in check and also ... it’s somewhat of a challenge to work with Luc sometimes and hold him, so it pays to be physically fit for as long as possible,” Hassell said.
Luc, 4, suffers from Angelman syndrome, a rare neuro-genetic disorder that is caused by a missing or inactive UBE3A gene. While each parent gives their child a copy of the gene, only the one from the mother remains active. Part of the clinic’s research is focused on activating the paternal copy.
A hyperactive UBE3A gene can lead to abnormal brain development or autism, the researchers found.
Children with Angelman syndrome appear happy and laugh frequently, making early diagnosis difficult. Other characteristics can include seizures, an inability to speak, severe intellectual disability, and walking and balance problems. Patients also can have difficulty with eating, swallowing, drooling, scoliosis and crossed eyes. Luc never sleeps more than four hours at a time, and sometimes not at all, his mother Maria Moncayo said.
They would never exchange Luc for someone else’s child, Moncayo and Hassell said, but they do think about how things might be if he did not have the syndrome.
They chose to end Hassell’s ride at the Comprehensive Angelman Syndrome Clinic, part of UNC’s Carolina Institute for Developmental Disabilities, because of the work being done there.
The clinic, the first of three Angelman clinics nationwide, opened in 2012. It immediately had a three-year waiting list and staff has met each month with two families, serving 89 families in the last four years, clinical coordinator Margaret Deramus said. The wait now is two to three months, she said.
UNC researchers Mark Zylka and Ben Philpot – the director and associate director, respectively, of the UNC Neuroscience Center – are among five researchers seeking treatments for Angelman syndrome.
Current efforts include a brain-imaging study and research into drugs or other therapies that can activate the dormant gene without affecting other genes. They also are talking with pharmaceutical companies about clinical trials, Deramus said.
The family toured the lab, Hassell said, and “were absolutely floored by what we found there.”
“One of the things that we were drawn to was the level of somewhat realistic expectations, but also being very hopeful for what the future could bring, maybe not necessarily for Luc, but if we’re to reduce his sleep problems by 50 percent, that would be magnificient,” Hassell said. “In the future, if we’re really able to help families and Angels lead a dramatically different life because of the work that they do, then that’s exceptionally worth it.”
They have caregivers and therapists now who work with Luc during the day, Moncayo said. But they worry about his future when they are gone and hope their children Leila, 7, and Adrian, 2, will care for him.
“It’s not because I don’t know that he is happy and he is healthy and he’s well taken care of and he is a joy – all of those things are still true – but when you know that someone else is going to have to take care of your child once you’re gone, that’s something you live with,” she said.
“I love him, but it’s hard, and if I had a magic wand and I could make disabilities go away, I would.”