Rare Brain Condition Discovered More Common in New Mexico

A rare genetic mutation linked to cerebral cavernous malformations (CCM) has been identified as unusually prevalent in New Mexico. This condition poses significant health risks, including brain bleeding, and has caught the attention of medical professionals and researchers in the region.

In 2021, four-year-old **Sakura Tafoya** experienced alarming symptoms after a soccer game. Following a header, she fell and struggled to regain her footing. Her father, **Jared Tafoya**, recognized the seriousness of the situation and called emergency services. An ambulance rushed Sakura to a local hospital, where scans revealed a pool of blood on the right side of her brain, indicating the presence of CCM.

Cerebral cavernous malformations are clusters of blood vessels that can leak and lead to various neurological issues, ranging from chronic headaches to seizures and even paralysis. While the condition affects approximately **1 in 500** people globally, only about **20%** of those cases are genetic, inherited in a manner known as autosomal dominant. In New Mexico, however, the prevalence of the inherited form of CCM is notably higher, with the **CCM1 mutation** responsible for at least **90%** of cases in the state.

Dr. **Tarun Girotra**, a neurologist at the **University of New Mexico Health Sciences Center**, describes the situation in New Mexico as unique. “We see it every day. For us, it’s not a rare disease,” he remarked. His clinic has become a center of excellence for CCM treatment, primarily serving a population with a significant number of Hispanic patients. Genealogical research suggests that the **CCM1 variant**, also referred to as the Common Hispanic Mutation, can be traced back to early Spanish settlers in the region.

Sakura’s condition deteriorated after she arrived at Christus St. Vincent Regional Medical Center, where she began seizing. She was quickly airlifted to the University of New Mexico Hospital for more intensive care. Her mother, **Kristina Tafoya**, described the experience as surreal, recalling that “it almost didn’t feel like it was real life.” Doctors ultimately discovered that a cluster of blood vessels had leaked blood into Sakura’s brain tissue, causing her symptoms.

Dr. **Leslie Morrison**, a retired pediatric neurologist and professor emerita at UNM, explained that lesions in the brain can lead to severe complications, including seizures, headaches, and potential neurological damage. “Living with the idea that that could happen, it changes their lives,” she noted, emphasizing the profound impact of such a diagnosis.

The Tafoya family had encountered CCM before through relatives who had undergone surgery for similar issues. Jared learned he had the condition during his Navy training when his recurring headaches led to imaging that revealed multiple lesions. The familial nature of CCM means that there is a **50%** chance of passing the genetic mutation to offspring, particularly in cases linked to the CCM1 variant.

Sakura’s treatment options were limited due to the location of the bleed. Doctors decided against surgery, hoping the bleeding would stop on its own, which it did after approximately **24 hours** in the hospital. She was discharged with medication to manage her seizures and a plan for ongoing monitoring through regular MRI scans.

While there is currently no cure for cerebral cavernous malformations, research is ongoing. In recent studies funded by the **National Institutes of Health**, scientists have found connections between the **CCM1 mutation**, vitamin D depletion, and the severity of lesions. These findings suggest that lifestyle changes, such as vitamin D supplementation and maintaining healthy blood pressure, could help manage symptoms.

The New Mexico Legislature has also recognized the need for increased research into CCM. In recent years, lawmakers allocated over **$600,000** to the University of New Mexico Health Sciences Center for research and outreach initiatives.

Despite these efforts, accessing healthcare remains a challenge for many families in rural New Mexico. Dr. Morrison shared her personal experience, stating, “If I need to see a specialist, I have to drive two hours to Santa Fe or three hours to Albuquerque.” This situation often results in significant financial burdens due to transportation costs, lost wages, and childcare expenses.

Four years after Sakura’s initial brain bleed, both she and her family continue to navigate the complexities of living with CCM. Regular check-ups ensure her condition is monitored closely. Sakura, now a third grader, aspires to become a tattoo artist, inspired by her mother. In a unique gesture, Kristina plans to have a tattoo of Sakura’s brain, symbolizing both their journey and resilience.

As the Tafoya family balances normal childhood activities with the realities of Sakura’s condition, they remain vigilant about her health. “We try not to limit her, but at the same time, the fear of her hitting her head definitely makes us hold back,” Kristina said, reflecting the constant anxiety that accompanies living with this rare but significant health issue.