Toddler Diagnosed with Rare Disease at 2. After Years of Life-Changing Therapy, His Progress Could Be Stripped Away

After facing the unimaginable when their young son was diagnosed with a rare neurodegenerative disease, Emma and Dylan Jobsis are once again fighting for Cade’s future.

The Alaska-based couple’s son was just 2½ years old when he was diagnosed with spastic paraplegia type 50, or SPG50. According to the National Organization for Rare Disorders, the disorder typically presents with global developmental delays, moderate to severe intellectual disability, seizures, and progressive motor symptoms.

“We started noticing things around four to five months,” Emma tells PEOPLE. “Cade wasn’t hitting milestones, and we knew in our gut something was wrong. But doctors didn’t listen at first.”

“By 9 months, he was already in physical therapy. Even then, it took until he was 2½ years old to get answers through whole genome sequencing, which revealed his rare genetic disease,” she explains.

When Cade’s diagnosis was finally confirmed, Emma learned just how rare SPG50 is.

“Only about 100 children worldwide have been diagnosed, and Cade is one of them,” she says. “It causes progressive loss of both motor and cognitive function. Over time, children lose skills they’ve worked so hard to gain — walking, talking, and even basic independence.”

Since his diagnosis, Cade, now 4, has been receiving physical, occupational, and speech therapy, essential for keeping him strong. But Emma and Dylan know these therapies don’t stop the progression of the disease. Fortunately, a new treatment offers hope.

“The only real hope is a gene therapy that has already been developed specifically for SPG50,” Emma says.

However, the program behind the clinical trials couldn’t secure all the necessary funding for the therapy. So the Jobsises have taken matters into their own hands.

“There was a grant we thought would carry the program forward, but it was denied,” Emma says. “The reality is that there’s little interest in funding treatments for ultra-rare diseases because they affect so few patients. The system simply isn’t designed to develop drugs for children like Cade. That’s why families have been the ones raising millions to get this far. We’re hopeful that through advocacy and awareness, this can start to change.”

Over the past year, families have raised $3 million to manufacture the therapy. Now, they’re working to secure the remaining $1.15 million needed for hospital and regulatory costs to treat the next group of children, which they hope will include Cade. Without this funding, the program cannot move forward.

Currently, Emma says Cade is “full of light” and communicates in his “own unique ways.”

“He uses a walker to get around, works hard in therapy, and loves school and being with his friends,” she says. “He doesn’t speak, but he communicates in his own unique ways and has a smile that lights up the room. A typical day for him includes therapy sessions, playtime, and school — everything just takes more effort. Right now, he can still walk with support, and we treasure every step.”

But if Cade cannot access the gene therapy, he will begin to lose the skills he has worked so hard to achieve.

“Without treatment, SPG50 will continue to progress. Cade will lose the skills he has today and face more severe physical and cognitive challenges as he gets older,” Emma explains. “Symptoms vary patient to patient, but in most cases, we see loss of function starting at the hands and feet and creeping inward as they age. Some patients lose the ability to use the bathroom or even swallow food. Decreased life expectancy is also expected, and the quality of life is bleak. That’s why this moment is so urgent. With treatment, there is real hope — hope that he can keep the abilities he’s fought so hard to learn and live a longer, fuller life.”

For Emma, the outpouring of community support has been one of the most inspiring parts of their journey.

“What makes this journey remarkable is how much of it has been powered by families and communities,” she says. “Neighbors, small businesses, and even strangers have come together to fundraise for Cade and other children. It’s humbling, and it gives us strength. By sharing Cade’s story, we hope not only to raise the funds he needs but also to shine a light on rare diseases and the children who deserve a chance at a future.”