For Sakura Tafoya, it started with a header.
The Santa Fe girl and her family were playing soccer on a fall day in 2021. Sakura, then 4, tried out a move she’d seen other kids do: hitting the ball with her head.
Minutes after trying the trick, however, she was out of sorts. She fell down and struggled to get back to her feet. She couldn’t swallow. Her words slurred.
Her father, Jared Tafoya, remembers thinking, “OK, this isn’t right.”
Someone in the family called 911. An ambulance rushed Sakura to the hospital, where initial scans showed the damage brought on by the header: a pool of blood on one side of her brain.
Sakura’s brain is home to cerebral cavernous malformations, or clusters of blood vessels prone to leaking that can cause mild to debilitating neurological issues like seizures, chronic headaches and paralysis.
The condition is rare. About 1 in 500 people have at least one malformation in their brain, though most experience no symptoms, according to estimates from the Alliance to Cure Cavernous Malformation. Of those, about 20%, or 1 in 2,500 people — including Sakura — have an inherited form of CCM.
Sakura Tafoya, 8, helps her father, Jared Tafoya, with office work last month at Tina’s Tattoos. Sakura has been diagnosed with cerebral cavernous malformation, a condition that causes bleeding in the brain and can result in headaches, strokes and other brain conditions, which she inherited from her father.
Michael G. Seamans/The New Mexican
CCM is more common in New Mexico than elsewhere in the world. Doctors often see the condition in local patients, especially those with Hispanic heritage.
Genealogists believe a genetic mutation causing one variation of the disorder — known as the CCM1 variant, or the Common Hispanic Mutation — can be traced back generations to early Spanish settlers in the state. About two-thirds of all familial cases of CCM can be traced back to the CCM1 mutation. In New Mexico, however, the CCM1 mutation is responsible for at least 90% of cases.
During his five years of training in other states, neurologist Dr. Tarun Girotra estimated he saw two or three cases of the condition. Now at the University of New Mexico Health Sciences Center — which operates as a center of excellence for CCM treatment and hosts a clinic to treat the condition — he said, “We see it every day. New Mexico sees it every day.”
“For us, it’s not a rare disease,” Girotra said.
‘Bleeding into the brain tissue’
By the time Sakura arrived at Christus St. Vincent Regional Medical Center, she’d already started seizing, recounted her mother, Kristina Tafoya. She had another seizure during a CT scan, so doctors decided to intubate and airlift the young patient to University of New Mexico Hospital.
The family had heard of CCM before, after a relative underwent surgery for a lesion in the brain. But Kristina Tafoya nonetheless described her daughter’s time in the Albuquerque hospital — five days in intensive care — as a sleepless and surreal blur.
“It almost didn’t feel like it was real life. It was like watching a movie,” she said.
Scans revealed the cause of Sakura’s symptoms: About an inch from the surface of her brain, a cluster of blood vessels leaked blood into her brain tissue.
A scan shows the extent of Sakura Tafoya’s brain bleed in November 2021.
Courtesy photo
The vessels that circulate blood throughout the body typically function as a “well-designed plumbing system,” Girotra said. Major blood vessels divide into smaller ones, which divide into even smaller ones. The smallest of those are capillaries, fine blood vessels that deliver oxygen and nutrients to tissue while taking away waste like carbon dioxide.
Cavernous malformations, also called cavernomas or lesions, occur when capillaries with abnormally thin walls cluster together, resulting in leaky blood vessels. Each clump of malformed capillaries looks like a mulberry in the brain, Girotra said.
“Because of an abnormal code in the genes, instead of having that very systematic, beautiful design, the capillaries kind of start blending together,” he said.
Lesions in the nervous system — either in the brain or along the spinal cord — are a “big deal,” said Dr. Leslie Morrison, a retired pediatric neurologist and a professor emerita at UNM.
“That’s bleeding into the brain tissue,” Morrison said. “So depending on the location of where that happens, it might be in an area that causes seizures. It might cause enough of a hemorrhage to cause a severe headache.”
In addition to seizures and severe headaches, the brain bleeds can cause changes in hearing and vision, trouble thinking and remembering, paralysis, stroke and death.
In the inherited form of CCM, Morrison said the number of lesions in a single patient’s brain can range from zero — which is especially rare — to hundreds, with each serving as a kind of “time bomb.”
“Living with the idea that that could happen, it changes their lives,” she said.
One mistake in string of beads
Sakura’s brain bleed wasn’t the first time the Tafoyas had heard about lesions in the brain.
While in basic and technical training for the Navy, Jared Tafoya said he sought medical attention for recurring headaches. After imaging his brain, he said, doctors asked if he’d ever been shot, noting they found “a bunch of different spots” in his brain and spinal column.
The findings indicated a problem, but Jared Tafoya said neither he nor the doctors treating him were familiar with CCM at the time.
The condition popped up again when a relative on his side of the family underwent surgery for a “fissure” on the brain, Kristina Tafoya remembered.
Doctors at the time recommended Jared Tafoya undergo testing for CCM, which confirmed he had the condition.
Four in five cases of cerebral cavernous malformations are sporadic, in which a lesion just appears in the brain or spinal cord, Morrison noted. The remaining 20% of cases are genetic and autosomal dominant, meaning there’s a 50-50 chance of a parent with the condition passing it on to their child.
And some of those familial cases stem from CCM1, an error in a specific gene that has been passed down primarily in Hispanic families.
If you think about a strand of DNA as a string of beads, Morrison said, “one of the beads has a mistake on it.”
Research shows between 53% and 65% of overall CCM cases are the result of the CCM1 mutation. In New Mexico, however, CCM1 is responsible for at least nine in 10 cases, Morrison said.
Often, the mutation manifests in a family history of neurological issues, Morrison added: One relative suffers from chronic headaches, for instance. Another has epilepsy or another seizure disorder. A third died of a stroke.
It’s a common story in New Mexico, Girotra said.
“We end up seeing a lot of those families who, in hindsight, have always had … one of the CCM1 mutations — just because of the way that the gene kind of is clustered in our state of New Mexico,” he said.
‘Controlling the symptoms’
Operating on Sakura’s brain bleed would have required passing through a part of the brain responsible for her motor skills, rendering surgery impossible, Kristina Tafoya recounted.
That meant the family had to hope Sakura’s brain would stop the bleeding on its own.
Luckily, it did just that over the course of about 24 hours in the hospital. Doctors prescribed medication for Sakura’s seizures and planned to keep an eye on the issue with regular MRIs.
While the bleeding in Sakura’s brain stopped, however, the cluster of leaky capillaries didn’t disappear.
There is no cure for cerebral cavernous malformation, Morrison said, and there’s no drug that can effectively treat it by preventing hemorrhages or limiting the number and growth of lesions.
Researchers are working on it, though. So far, a few randomized controlled trials — considered the “gold standard” for scientific research, Morrison said — have tested drugs to treat CCM, without striking results. Other medications are awaiting testing on humans and animal models, too, she added.
Earlier this year, scientists at UNM wrapped up a 15-year study of CCM funded by the National Institutes of Health, which found CCM1 depletes vitamin D over time and made connections between patients’ gut bacteria and the severity of their lesions and bleeds.
Morrison said research has shown making some changes, like taking vitamin D supplements, maintaining a healthy blood pressure, and avoiding emulsifiers — ingredients that help liquids combine in certain naturally separating foods — can help with CCM.
“Those are all things that we think will make a difference,” she said. “So there’s some … lifestyle and health things that can be done, short of a cure for the disease or a medical treatment.”
Morrison added researchers are also looking to develop a registry of patients with confirmed CCM cases.
The New Mexico Legislature has contributed to CCM research at UNM a few times in the past decade. Lawmakers passed a joint memorial in 2019 to convene a committee to study support for researching cerebral cavernous malformation, with the memorial noting the condition is “more common in New Mexico than elsewhere because of a genetic mutation passed down from the earliest Hispanic settlers.”
Sakura Tafoya, 8, wipes the sleepiness from her eyes as she watches Peter Pan at Tina’s Tattoos.
Michael G. Seamans/The New Mexican
In 2023 and 2024, the state’s budget bills included appropriations totaling more than $600,000 to the University of New Mexico Health Sciences Center for research and outreach on the subject.
When he’s seeing patients at UNM’s cerebral cavernous malformation clinic, Girotra said he’s focused not just on finding a cure, but on helping patients manage the condition.
“We also spend a lot of time dealing with controlling the symptoms and the problems these patients are having,” he said, adding the clinic prescribes appropriate medications for headaches and seizures and connects patients to neurosurgery and rehabilitation options available through UNM.
But Morrison and Girotra acknowledged patients with cerebral cavernous malformations are subject to the same challenges other rural New Mexicans face in accessing health care: a shortage of providers, long wait times, delays in care. They estimated about a third of their patients came from small New Mexico towns.
Morrison, who lives in an unincorporated village in Mora County, knows the challenge firsthand.
“As a patient now, I have to drive an hour to see my doctor, which isn’t bad,” she said. “But if I need to see a specialist, I have to drive two hours to Santa Fe or three hours to Albuquerque — and that’s a whole day.”
For many New Mexico families, losing a whole day is a costly endeavor, between gas money, lost wages and the price of child care — all of which create “serious barriers” to accessing care, she said.
“We have to figure out … what it is that patients need and want and what the health care system in this state needs and wants, so that we can all do a better job to take care of patients with CCM,” Morrison said.
‘Is this another rupture?’
Four years after the big bleed, doctors continue to keep a close eye on Sakura’s brain through a regular rhythm of appointments.
Sakura Tafoya, 8, plays with her sister, Ume, 5, at Tina’s Tattoos last month.
Michael G. Seamans/The New Mexican
Once a year, she goes in for an MRI scan, which produces clear images of any lesions in her brain. Six months later, doctors double check the medication she takes to control her seizures.
In many ways, though, Sakura is a regular kid. She attends third grade at a Santa Fe elementary school. She likes to read and feel the wind against her skin. An artist, she said her dream is to one day become a tattoo artist, like her mom.
At her daughter’s request, Kristina Tafoya is planning to get a picture of Sakura’s brain tattooed on her body. She has already started mocking up drawings from Sakura’s medical imaging results.
“Eventually, I will have her brain sitting right here,” Kristina Tafoya said, pointing to a spot on her left forearm.
Bringing on another bleed is a point of intense anxiety for her parents. Sakura participates in dance, rather than activities like basketball, with a higher likelihood of something like a ball hitting her head.
“We try not to limit her, but at the same time, I think the fear of her hitting her head definitely makes us hold back,” Kristina Tafoya said.
She added, “It’ll always be in the back of our heads: Is this another rupture?”