For Sakura Tafoya, it started with a header.<\/p>\n
The Santa Fe girl and her family were playing soccer on a fall day in 2021. Sakura, then 4, tried out a move she\u2019d seen other kids do: hitting the ball with her head.<\/p>\n
Minutes after trying the trick, however, she was out of sorts. She fell down and struggled to get back to her feet. She couldn\u2019t swallow. Her words slurred.<\/p>\n
Her father, Jared Tafoya, remembers thinking, \u201cOK, this isn\u2019t right.\u201d<\/p>\n
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.<\/p>\n
Sakura\u2019s 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.<\/p>\n
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 \u2014 including Sakura \u2014 have an inherited form of CCM. <\/p>\n
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Sakura Tafoya, 8, helps her father, Jared Tafoya, with office work last month at Tina\u2019s 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.<\/p>\n
Michael G. Seamans\/The New Mexican<\/a><\/p>\n 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.<\/p>\n Genealogists believe a genetic mutation causing one variation of the disorder \u2014 known as the CCM1 variant, or the Common Hispanic Mutation \u2014 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.<\/p>\n 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 \u2014 which operates as a center of excellence for CCM treatment and hosts a clinic to treat the condition \u2014 he said, \u201cWe see it every day. New Mexico sees it every day.\u201d<\/p>\n \u201cFor us, it\u2019s not a rare disease,\u201d Girotra said.<\/p>\n \u2018Bleeding into the brain tissue\u2019<\/p>\n By the time Sakura arrived at Christus St. Vincent Regional Medical Center, she\u2019d 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.<\/p>\n 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\u2019s time in the Albuquerque hospital \u2014 five days in intensive care \u2014 as a sleepless and surreal blur.<\/p>\n \u201cIt almost didn\u2019t feel like it was real life. It was like watching a movie,\u201d she said.<\/p>\n Scans revealed the cause of Sakura\u2019s symptoms: About an inch from the surface of her brain, a cluster of blood vessels leaked blood into her brain tissue. <\/p>\n A scan shows the extent of Sakura Tafoya’s brain bleed in November 2021.\u00a0<\/p>\n Courtesy photo<\/p>\n The vessels that circulate blood throughout the body typically function as a \u201cwell-designed plumbing system,\u201d 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.<\/p>\n 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.<\/p>\n \u201cBecause of an abnormal code in the genes, instead of having that very systematic, beautiful design, the capillaries kind of start blending together,\u201d he said.<\/p>\n Lesions in the nervous system \u2014 either in the brain or along the spinal cord \u2014 are a \u201cbig deal,\u201d said Dr. Leslie Morrison, a retired pediatric neurologist and a professor emerita at UNM.<\/p>\n \u201cThat\u2019s bleeding into the brain tissue,\u201d Morrison said. \u201cSo 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.\u201d<\/p>\n 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.<\/p>\n In the inherited form of CCM, Morrison said the number of lesions in a single patient\u2019s brain can range from zero \u2014 which is especially rare \u2014 to hundreds, with each serving as a kind of \u201ctime bomb.\u201d<\/p>\n \u201cLiving with the idea that that could happen, it changes their lives,\u201d she said.<\/p>\n One mistake in string of beads<\/p>\n Sakura\u2019s brain bleed wasn\u2019t the first time the Tafoyas had heard about lesions in the brain.<\/p>\n 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\u2019d ever been shot, noting they found \u201ca bunch of different spots\u201d in his brain and spinal column.<\/p>\n The findings indicated a problem, but Jared Tafoya said neither he nor the doctors treating him were familiar with CCM at the time.<\/p>\n The condition popped up again when a relative on his side of the family underwent surgery for a \u201cfissure\u201d on the brain, Kristina Tafoya remembered.<\/p>\n Doctors at the time recommended Jared Tafoya undergo testing for CCM, which confirmed he had the condition.<\/p>\n 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\u2019s a 50-50 chance of a parent with the condition passing it on to their child.<\/p>\n And some of those familial cases stem from CCM1, an error in a specific gene that has been passed down primarily in Hispanic families.<\/p>\n If you think about a strand of DNA as a string of beads, Morrison said, \u201cone of the beads has a mistake on it.\u201d<\/p>\n 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.<\/p>\n 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.<\/p>\n It\u2019s a common story in New Mexico, Girotra said.<\/p>\n \u201cWe end up seeing a lot of those families who, in hindsight, have always had \u2026 one of the CCM1 mutations \u2014 just because of the way that the gene kind of is clustered in our state of New Mexico,\u201d he said.<\/p>\n \u2018Controlling the symptoms\u2019<\/p>\n Operating on Sakura\u2019s brain bleed would have required passing through a part of the brain responsible for her motor skills, rendering surgery impossible, Kristina Tafoya recounted.<\/p>\n That meant the family had to hope Sakura\u2019s brain would stop the bleeding on its own.<\/p>\n Luckily, it did just that over the course of about 24 hours in the hospital. Doctors prescribed medication for Sakura\u2019s seizures and planned to keep an eye on the issue with regular MRIs.<\/p>\n While the bleeding in Sakura\u2019s brain stopped, however, the cluster of leaky capillaries didn\u2019t disappear.<\/p>\n There is no cure for cerebral cavernous malformation, Morrison said, and there\u2019s no drug that can effectively treat it by preventing hemorrhages or limiting the number and growth of lesions.<\/p>\n Researchers are working on it, though. So far, a few randomized controlled trials \u2014 considered the \u201cgold standard\u201d for scientific research, Morrison said \u2014 have tested drugs to treat CCM, without striking results. Other medications are awaiting testing on humans and animal models, too, she added.<\/p>\n 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\u2019 gut bacteria and the severity of their lesions and bleeds.<\/p>\n Morrison said research has shown making some changes, like taking vitamin D supplements, maintaining a healthy blood pressure, and avoiding emulsifiers \u2014 ingredients that help liquids combine in certain naturally separating foods \u2014 can help with CCM.<\/p>\n \u201cThose are all things that we think will make a difference,\u201d she said. \u201cSo there\u2019s some … lifestyle and health things that can be done, short of a cure for the disease or a medical treatment.\u201d<\/p>\n Morrison added researchers are also looking to develop a registry of patients with confirmed CCM cases.<\/p>\n 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 \u201cmore common in New Mexico than elsewhere because of a genetic mutation passed down from the earliest Hispanic settlers.\u201d<\/p>\n Sakura Tafoya, 8, wipes the sleepiness from her eyes as she watches Peter Pan at Tina\u2019s Tattoos.\u00a0<\/p>\n<\/p>\n
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