Research Brings Life-Changing Therapy to Cristofer Research Brings Life-Changing Therapy to Cristofer
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University of Utah Health
Sep 01, 2026
At first, they thought it was just a cold.
Months-old Cristofer Reyes was clearly sick. His regular pediatrician was out of the office, but at multiple appointments, his family was told he would get better soon. But as the days went on, Cristofer started to lose weight. He was sleeping all day. He stopped responding to his parents. Finally, his mother, Aracely, was able to connect with Cristofer’s pediatrician in Idaho Falls.
Why it Matters: When months-old Cristofer was diagnosed with a rare, severe neurodegenerative disease, world-class research and clinical trials at U of U Health gave him and his family new hope for the future.
She sent them to the hospital immediately. “This is not normal,” Aracely recalls her saying. “You need to go to the emergency room, now.”
It would be one of the worst weeks of Aracely’s life. Cristofer was hooked up to an IV and had countless tests done. An MRI revealed severe inflammation in Cristofer’s brain. He was transported on an emergency medical flight to Intermountain Primary Children’s Hospital, three hours’ drive south.
The final diagnosis was vanishing white matter disease (VWM), a severe neurodegenerative condition. The severity of VWM varies, but for infants as young as Cristofer, life expectancy is often only a few months. Existing treatments focus on symptom management. There is no cure.
But Cristofer was at one of the only places in the world where there might be hope for a better outcome.
Research gives hope
Next door to the children’s hospital, University of Utah Health operates one of the top research labs that studies this rare disease, among other related neurodegenerative conditions. And the lab’s leader, Josh Bonkowsky, MD, PhD, a pediatric neurologist at U of U Health and Intermountain Primary Children’s Hospital, was running a clinical trial for a new medication for VWM. The new medication, the first of its kind, was designed to put the brakes on the out-of-control stress response that kills brain cells in VWM, allowing the brain to recover.
For patients like Cristofer, this intersection between research and clinical care is crucial. Clinical trials offer patients the chance to try promising new medicines for conditions that are difficult to treat, though success is not guaranteed. Health systems like U of U Health and Intermountain Primary Children’s Hospital have the specialized expertise and resources to run clinical trials safely and effectively, bringing hope to people with rare diseases.
Initially, Bonkowsky’s clinical trial was only focused on whether the new medication was safe, not whether it was effective, because the medication was so novel. But the trial’s preliminary results raised the hope, even if slim, to help Cristofer. “We knew how well the clinical trial was going, which has been transformative,” Bonkowsky says.
“Other specialists around the world felt that for Cristofer or other young children like him it was too late, but I felt—this kid is really affected, but it’s still worth the chance for him.”
Cristofer was too sick to be eligible for the trial, so Bonkowsky prescribed him the medication on a compassionate use basis.
The first dose
Cristofer Reyes playing at home. Image credit: Aracely Reyes.
Aracely remembers giving Cristofer his first dose in the hospital while her three other children were at a hotel nearby.
“That was the best day. He hadn’t been able to cry like a normal kid. No words,” she recalls. “But the next day I walked into the hospital, and I was going out to his room and I heard him yell ‘Mom!’ in Spanish. That brought me to tears.”
Since then, Cristofer has improved dramatically. Over the course of less than a year on the new treatment, he’s started to crawl, talk, and is eating more. The treatment is still being tested, and it isn’t known if it’ll work for other kids with VWM. But for him, Aracely says, it’s made all the difference.
“He is a sassy little boy, which I love,” she says. “To this day, he is a menace. Oh my gosh, this kid. But I will not tell him anything because we are happy to see him be able to do the things he couldn’t do before. That is so amazing.”
Bonkowsky describes the treatment in clinical trials as “totally game-changing.” But he’s not done yet. While preliminary results suggest that the new drug may be more effective than anything before, patients need to keep taking it for their whole lives. Meanwhile, Bonkowsky’s lab is working to develop a permanent cure for VWM by targeting the genetic change that causes the disease. He says, “Right now this is the treatment, but we hope in a few years we’ll have a gene therapy to cure the disease.”
For patients and families, hope now rests on what research can deliver next.
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