Cade Jobsis, 3, usually walks a lap a day around the Mendenhall Mall with the aid of his family and a small walker. On Saturday he covered far more carpeted ground amidst the company of a crowd of supporters participating in a walkathon to raise funds to treat a rare genetic disorder he was born with.
Jobsis has Hereditary Spastic Paraplegia, a degenerative condition that affects perhaps 100 people worldwide, said his mother, Emma, while helping her son make his way down the mall’s main corridor at the event. She said gene therapy treatment is available, but it is costly and needed soon.
“What we know right now is that starting at about age six to 10 they will lose the ability to walk,” she said. “Usually by age 10 they’ll end up in a wheelchair and then the paralysis begins up their body. So they lose the ability to use their hands, their legs, their feet if we don’t do something.”
Emma said the goal is to get treatment in November if the National Institutes of Health, which would administer the care as part of a clinical trial, gives their approval. She said the family doesn’t have to have all the funds to pay for treatment secured, but “they need good faith that all this money is going to be given.”
Providing treatment just for Cade would cost $3 million if the family were paying out of their pockets, Emma said. But a collective effort is underway with others who have the disorder to raise a total of $3 million, with grant funding and other resources expected to assist with research and treatment costs.
Emma said she and her husband, Dylan, noticed their son was having developmental difficulties when he was about five months old while the family was living in the Virgin Islands.
“He wasn’t rolling over, all of his milestones were kind of slow,” she said. “And so doctors constantly told us he was going to catch up, but he just didn’t. And then when he was two and a half we got genome sequencing. They sequenced Dylan’s, mine and Cade’s entire genome…and Dylan and I both have a faulty gene. We have one good gene, one bad gene.”
“So because (Dylan) and I both have the same bad copy and Cade got both copies that’s why he has the symptoms.”
Adding to the stress was Emma was 23 weeks pregnant with the couple’s second child, Cosmo, at the time — and they were told there was a one-in-four chance that child could also have the disorder. However, their second son was born without it.
The family ended up moving back to Emma’s hometown of Juneau in 2022 because of the diagnosis, seeking both short- and long-term treatment. In addition to staying busy keeping Cade physically active — besides mall walking he’s a regular at the Southeast Alaska Gymnastics Academy where his mother is an instructor — his parents have participated in a multitude of fundraising and awareness events for their Cure for Cade campaign.
A total of $15,799 in pledges was raised at the walkathon by 48 kids who walked a total of 584 laps, said Talea Kellar, owner of Bloom Children’s Art Studio at the mall and the organizer of the event. An estimated $23,500 more was raised by sponsors, a silent auction of donated items, a bake sale and other contributions.
Cade’s family has raised nearly $300,000 to date, including the proceeds from the walkathon. Emma said the total nationwide effort with other families has raised a bit more than $500,000.
The gene therapy was developed by a pharmaceutical company founded by Terry Pirovolakis, who was seeking a cure when his son was diagnosed with the disorder, according to a story published in July by The Virgin Islands Daily News.
The treatment itself is simple, involving a single injection into Cade’s spinal fluid to correct the gene disorder, but it will first require a month of hospital immunosuppressants, Emma said. If successful, “he won’t lose any of his abilities.”
“What we want is for him to not degenerate,” she said. “We don’t want him to lose any of the ability for his ankles and his knees and his hips, and his ability to speak and his ability to communicate with us. That’s what we want.”
Kellar said she came up with the idea of the walkathon because Cade is a frequent visitor with his family.
“We have always laughed and called him our littlest mall walker, because he comes into the mall and he works on his mobility with his little walker, especially in the winter,” she said.
Emma said the family prefers the mall as a walking spot because the carpeted floor “is really forgiving” which means Cade won’t suffer an injury or other mishap in a fall.
“It’s really important that he stays on his feet with the disease that he has,” she said. A doctor told her “if he doesn’t spend a lot of time on his feet his femurs will develop on the outside of his pelvis” and prevent his hips from forming correctly.
Cambria Nolan, 12, alternating between brisk walking and an occasional jog, said she arrived sometime after 3 p.m. and within an hour had done 17 laps — more than four miles if the mall circuit is indeed a quarter mile. She said she’s in the same gymnastics program as Cade and showed up for the walkathon after hearing about it and knowing his family needs help.
Participants got a star stamped on their arm each time they completed a lap. Among those with the most stamps was Addy Engen, 8, who said she’d collected pledges for each lap walked rather than a set amount for the event.
“My goal is to make Starre broke,” she said, referring to a family friend who made a pledge.
• Contact Mark Sabbatini at mark.sabbatini@juneauempire.com or (907) 957-2306.
