New Mexico’s Uncommon Genetic Risk: Brain Bleeding and CCM

A rare genetic mutation linked to brain bleeding, known as cerebral cavernous malformations (CCM), is particularly prevalent in New Mexico. This condition poses significant health risks, including seizures and neurological impairments. The situation gained attention after a serious incident involving a young girl named Sakura Tafoya in 2021.

Sakura, then just four years old, experienced a traumatic episode while playing soccer. After attempting to strike the ball with her head, she fell and struggled to regain her balance. Her father, Jared Tafoya, quickly recognized that something was wrong when she was unable to swallow and her speech became slurred. Emergency services were called, and she was transported to a local hospital, where scans revealed a pool of blood in her brain, attributed to a cluster of leaky blood vessels caused by CCM.

CCM is characterized by abnormal clusters of blood vessels that can leak and lead to various neurological problems. While about 1 in 500 individuals worldwide may carry at least one malformation, the condition has a higher incidence in New Mexico, particularly among families of Hispanic descent. Research indicates that about 90% of familial cases in the state are linked to the CCM1 mutation, which can be traced back to early Spanish settlers.

Dr. Tarun Girotra, a neurologist at the University of New Mexico Health Sciences Center, has observed a striking increase in CCM cases since moving to the state. He stated, “For us, it’s not a rare disease,” emphasizing the frequency with which they encounter it at their clinic.

Upon Sakura’s arrival at Christus St. Vincent Regional Medical Center, she experienced seizures, prompting her transfer to the University of New Mexico Hospital. Her mother, Kristina Tafoya, described their experience in the hospital as surreal, with Sakura spending five days in intensive care. Imaging revealed that a cluster of blood vessels had leaked, causing the bleeding.

Dr. Leslie Morrison, a retired pediatric neurologist, explained that CCM lesions can range widely in number, from zero to hundreds, each serving as a potential risk for future complications. “Living with the idea that that could happen, it changes their lives,” she said, highlighting the psychological burden on families.

Previously, Jared Tafoya had his own health concerns, experiencing recurring headaches during his military training. Imaging revealed multiple spots in his brain and spinal column, later identified as CCM after family members underwent testing. The genetic nature of the condition means that there is a 50% chance of passing it on to offspring.

Surgery is often not an option for those with CCM due to the location of lesions. In Sakura’s case, doctors hoped her body would naturally halt the bleeding, which it did after approximately 24 hours. She was prescribed medication for her seizures, but the underlying condition remains, as there is currently no cure for CCM.

Research efforts are ongoing to better understand and treat CCM. Recent studies funded by the National Institutes of Health have explored connections between vitamin D levels and the severity of the condition. Dr. Morrison noted that lifestyle changes, such as maintaining healthy blood pressure and avoiding certain dietary emulsifiers, may help manage symptoms.

New Mexico’s state legislature has recognized the need for further research into CCM, allocating over $600,000 to support studies and outreach related to this condition. As healthcare providers work to assist patients, they also face challenges common in rural areas, such as limited access to specialists and long wait times.

Four years after her initial bleed, Sakura continues to receive regular check-ups, including annual MRI scans. Kristina remains cautious about her daughter’s activities, opting for less risky pursuits like dance to minimize the chance of head injuries. Despite the complexities of her condition, Sakura’s vibrant personality shines through. She is an active third grader with aspirations of becoming a tattoo artist, inspired by her mother.

As the Tafoya family navigates the challenges of living with CCM, they remain hopeful for advancements in research and treatment that could improve the lives of many affected by this uncommon yet significant genetic condition in New Mexico.