Can a 3-year-old’s dilemma save a stranger’s life?

More than anything in the world, 3-year-old Kiri Duke-Rosati has been hoping this month that Santa Claus would bring him Spider Man stuff. He loves the super hero character in any and every form, from pajamas to toys.

What his parents, Jazmynn Pok and Anthony Duke-Rosati yearn for is quite a bit more sobering. They long for someone to match their son’s stem cells so he lives. The toddler has a lethal inherited metabolic disorder affecting young males called cerebral adrenoleukodystrophy. A match will cure him. Without it, he will lose the ground a toddler makes — the speech, the motion, the personality. And eventually he will die.

Deseret News profiled his dilemma in August with a story headlined “When only a stranger can save your 3-year-old.” The follow-up could be “When only your 3-year-old can save a stranger.”

Through efforts to find a match for Kiri, including the Deseret News story, 13,000 people have had their cheeks swabbed to see if they are a suitable stem cell match. And through that effort, a dozen people with situations that may be as dire as the little boy’s have found potential matches that could offer them the hope of treatment or a cure for their own life-altering and in some cases potentially life-ending conditions.

Kiri does not yet have the longed-for close match, but his story has opened the door for matches for others.

The NMDP, formerly called the National Marrow Donor Program, which manages the registry, has been calling those potential matches back to see if they’ll do further testing. Their willingness could change everything for someone else.

That potential’s a very bright spot for Pok, an attorney, and Duke-Rosati, a firefighter and paramedic, who live in Holladay, Utah.

“Thinking about Kiri’s legacy with this is very cool,” Pok told Deseret News. “I wish I could bottle up what this last few months have been and what it means. I know what a potential match would mean for us.”

That his illness and the search for a donor have opened the door to saving other lives leaves her almost speechless. It’s “very Kiri. He’s the sweetest kid,” his mom said, “always wanting to make people feel better. He’s always talking about how he loves everyone. So that couldn’t be more him.”

Kiri doesn’t understand any of this. The boisterous little boy is too busy playing with big sister and dearest friend Nora, 6, and little brother Rocco, 2. Rocco likes nothing more than to be around Kiri, emulating everything from what he does to what he has for breakfast. And Kiri and Nora are nearly inseparable.

Routine screening, shocking result

The disease was discovered during Utah’s routine newborn screening test, this disease one of the more recent additions. The disease, called ALD for short, is so rare that most people have never heard of it unless they have watched the movie “Lorenzo’s Oil.”

It occurs in about 1 case in 17,000 live births. Kiri has the most severe form, cerebral adrenoleukodystrophy (CALD), which occurs in about 1 in 42,500 or 1 in 48,500 live births, according to Adrenoleukodystrophy.info. With brain changes visible on a scan, it’s just a matter of time before symptoms appear, his parents were told. Without treatment, CALD is usually fatal.

But first it will rob him. Possible losses include hearing and vision, the ability to walk and control his bladder and bowels and even speak. He may have seizures and trouble chewing or swallowing.

Racing to save Kiri

Pok and Duke-Rosati and extended family members have been very proactive, launching a campaign they call “Hope for Kiri” online and across social media platforms. They’ve responded to any and all media requests in hopes of getting the word out. They’ve held events where people can get a simple cheek swab. They even had a country music night at a local venue, with food and silent auction items, all to raise awareness and cover costs.

If the efforts seem a bit frantic, they are. Time is slipping away.

Right now, though the disease can be seen on scans, Kiri is a typical toddler, full of joy and wonder. Once symptoms begin, damage cannot be reversed. With a stem cell transplant using bone marrow, the disease will likely disappear. It hinges on finding a suitable match.

A plea to follow through

Erica Sevilla of NMDP said some folks could be called right away because they match someone and others may receive a call in the future. There are some who will never get a call.

She said about half of people contacted about being a match to someone in the registry — who may have one of about 75 very serious, sometimes fatal diseases — change their minds about donating, worried about the process itself. So she takes great pains to explain how simple it is. It’s like donating platelets or plasma in most cases, she said. Blood is taken from one arm and returned to the other, minus enough stem cells to be an effective transplant. And it doesn’t take much.

The list of disorders that can be treated or cured with a bone marrow transplant include rare immune disorders, blood disorders, aplastic anemia, sickle cell disease, leukemia, lymphoma and so many more. But a match is needed.

It takes about two hours — if they can find someone who matches Kiri on human leukocyte antigen or HLA markers. Right now, Pok said they have a potential partial match, but a closer match would be a safer option for him if they can find one.

Sevilla said that younger donors — and Kiri needs a donor under age 40 — have more unique HLA markers compared to previous generations. Sevilla said in 2024, about half of all new registry members ages 18-35 added new HLA types to the NMDP registry because younger generations are more diverse.

“Because of this, we have focused our efforts on our Donor for All research to help ensure that patients without fully matched donors can still receive the cell therapy they need,” she said. Even without a perfect match, they’re hopeful Kiri can get a “good enough” match to change his trajectory. Sevilla noted younger donors lead to better outcomes.

While with a stem cell transplant there is a risk for the patient, there’s little risk for the donor. But Hollywood depictions have scared some potential donors away by “grossly dramatizing” the process, per Sevilla. Medication can help produce more stem cells that spill over into the blood, so that taking it directly from bone marrow isn’t usually needed. And in cases where it is, it’s taken under anesthesia, the aftermath pain akin to the kind of bruising and soreness you’d feel if you fell down, she said.

Ninety percent of people who would be called on to donate would provide peripheral blood stem cells, akin to the blood donation.

Donating costs nothing. The costs — even travel if it is needed — do not fall on the donor.

“We can even reimburse lost wages, day care, pet care, travel if they have to travel anywhere,” said Sevilla. “We want to make this as easy as possible.”

When Deseret News wrote about Kiri, 1,500 people had been swabbed. Sevilla calls the rise to almost 13,000 an “absolutely incredible response.”

But Kiri still hasn’t found the perfect match, although there is a potential donor, his mother said. Because of the nature of his disease, they’d like to hold out for a match to more HLA markers. The more markers the greater the likelihood of an effective cure. But any matched markers are better than not trying if the little boy runs out of time.

New techniques have broadened the pool of potential donors, but they aren’t without some challenges. A medication can be administered post-transplant to temper rejection, but its toxicity has to be closely managed. A great HLA match is the goal.

Counting blessings

Pok is counting two blessings. Kiri’s disease, while it has reached his brain, is progressing at the moment more slowly than predicted, which buys him some time. And the partial match is certainly far more than they had when the process started.

Pok and Duke-Rosati are navigating a world that was very strange to them at first. They don’t intend to leave it once their child is safe. Pok said they will hang onto the energy created by the push to save Kiri’s life. There are a lot of rare diseases and they hope that “once we have Kiri situated, we can do something else with this energy to drive awareness of the other diseases.”

Pok recently was invited to the lab of Dr. Joshua Bonkowski, a neurologist who treats Kiri. She was struck by all the people working there who are trying so hard to save people like Kiri from terrible disease.

She admits that it’s hard to just hope everything goes perfectly and Kiri gets the match he needs and to not feel anxious. But they’re well aware of their blessings and all the love and effort directed toward their child. How many people can say 13,000 folks care about them in a personal, do-something way?