Kiri needs a matching bone marrow donor before Sept. 8 and the hunt is on.
Kiri Duke-Rosati is laughing uproariously as he bounces an orange balloon at the ceiling, his high, sweet voice tickling the ears of the adults who talk around him. He's 3½ and unconcerned by their serious faces and voices.
His mom and dad, Jazmynn Pok and Anthony Duke-Rosati, are talking about death.
Kiri, whose name means "mountain" in Khmer because it hints at power and strength, has a tough road ahead unless a stranger intervenes.
When he was born, Utah's newborn screening test found he has adrenoleukodystrophy -- ALD for short -- a rare disease that's unfamiliar to most people unless they saw the movie "Lorenzo's Oil." ALD is an inherited metabolic disorder that primarily affects young males.
Once symptoms appear, ALD follows a strange and frightening path.
While the condition is rare -- an estimated 1 case in 17,000 live births -- the most recent of his twice-a-year MRIs showed that 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. Now that brain changes have shown up on a scan, it could be just days or weeks before symptoms appear, his parents were told.
And CALD, untreated, is nearly always fatal.
Typically, symptoms start with behavior changes, which doctors sometimes misdiagnose initially as attention deficit hyperactivity disorder if no genetic test was done, according to Healthline. After that, the order that symptoms appear varies, but a child with CALD has some combination of hearing and vision loss, a tough time walking, inability to control bladder or bowel, seizures, and trouble chewing or swallowing or talking. Many children with CALD over time need a feeding tube, become blind, lose their ability to move on their own and eventually suffer complete paralysis, before their bodies shut down entirely.
This Holladay, Utah, husband and wife are racing to save their middle child before symptoms show up, as nothing will reverse whatever damage the disease does. They need to find a bone marrow donor fast. A stem cell transplant using bone marrow has high potential to stop the disease, but is only used before neurological symptoms begin. In half of children, the disorder is diagnosed too late to benefit from a bone marrow transplant.
Kiri still has time, though not much. Doctors told Pok and Duke-Rosati last week that the deadline to begin treatment is just weeks away, Sept. 8.
Their friends and family members have been tested, but no one matched. The hunt goes on.
A study from France showed that 70% of children with CALD who receive such a stem cell transplant were disability-free five years later. Untreated, children often die before age 10.
Kiri doesn't know any of this right now. The cheerful little boy is playing hard, but pauses long enough to say he's tired before he laughs and scampers after his balloon. Soon, his best friend -- big sister Nora, who's 5-1/2 -- and his little brother Rocco, not quite 2, will be home from day care and playtime will be even more fun.
Nora and Kiri are so close they're like twins, Pok said. They giggle and have little inside jokes and their own language. After naps or a night of rest, the first thing either one asks upon awakening is where the other one is.
Rocco, meanwhile, is "obsessed with Kiri," Pok said. If Kiri wants a certain cereal, that's the one Rocco wants, too. If Kiri brushes his teeth, Rocco's right there to do his, as well, though it's far from his favorite thing. Even his choice of shoes depends on what kind Kiri's wearing.
Because of all the conversations around him that are about him, Pok and Duke-Rosati have told Kiri in very simple terms that he might get sick. "I don't want to get Nora sick," he replied.
Nora's old enough, their mom said, that she has a lot of questions. And worries.
The transplant part should be relatively simple. It takes about two hours -- if they can find someone who matches him on 10 human leukocyte antigen or HLA markers. Testing requires a cheek swab, which is sent in to be processed through the National Marrow Donor Program's universal registry. If a match is found, a small amount of bone marrow can be extracted to be donated to the toddler.
Bone marrow transplant is used with about 25 life-threatening diseases, Duke-Rosati said. There's potential for someone who can't save Kiri to match with and save someone else.
Kiri must have a bone marrow donor between the ages of 18 and 40. In some cases, older is OK, but not for Kiri. If a match is found, the little boy will undergo nine or 10 days of chemotherapy and immunotherapy at Intermountain Primary Children's Hospital, then he'll have a day of rest before the actual transplant.
Kiri will be in the hospital for four to six weeks to make sure his body doesn't reject the transplant. He'll be on immunosuppression drugs for a year, then weaned off.
Doctors believe there's a high-percentage likelihood that the right match could give Kiri a normal lifespan and a normal life.
A number of businesses have swab kits locally so that folks along the Wasatch Front can pick one up and send it in. But distance isn't an issue. The right donor could be thousands of miles away. Information is available at hopeforkiri.org or through the registry online at my.nmdp.org/HopeforKiri. You can also text "HopeForKiri" to 61474.
So far, the family has had an amazing response, but no match. In the quest to save Kiri's life, roughly 1,500 people have completed registration, driven in part by social media efforts from friends and family.
Neither Pok, an attorney, or Duke-Rosati, a paramedic and firefighter, are on social media themselves. But they're glad they know so many people who are.
They also feel blessed that they live in Utah, which added ALD to the conditions for which it screens newborns, so they don't have to wait for the worst irreversible symptoms and possibly find it's too late to change his future. Many states don't screen for it, but Utah started in 2020. Since then, 22 cases of ALD have been found in the screening, according to the Utah Department of Health and Human Services.
Kiri's parents are also grateful to live 15 minutes from the hospital, knowing many other parents must travel long distances to receive care for the disease.
The scans and treatment are stressful and expensive, Pok admitted. But saving Kiri's life? There's no way to put a price tag on that.