New Mexico’s Unique Genetic Mutation Raises Brain Hemorrhage Risk

In March 2021, a 4-year-old girl named Sakura Tafoya experienced a frightening health crisis while playing soccer in Santa Fe, New Mexico. After attempting a move that involved striking the ball with her head, Sakura collapsed and exhibited alarming symptoms, including slurred speech and difficulty swallowing. Her father, Jared Tafoya, quickly recognized the severity of her condition, prompting a call to emergency services. An ambulance transported her to the hospital, where scans revealed a pool of blood on one side of her brain, caused by a rare condition known as cerebral cavernous malformations (CCM).

CCM involves clusters of abnormal blood vessels in the brain that can leak and lead to various neurological problems, such as seizures, chronic headaches, and paralysis. While the condition is uncommon, affecting approximately 1 in 500 people, its impact is particularly pronounced in New Mexico, where genetic factors significantly increase its prevalence. According to the Alliance to Cure Cavernous Malformation, around 20% of affected individuals inherit the condition, with many cases linked to a specific mutation known as the CCM1 variant.

The genetic mutation, often referred to as the Common Hispanic Mutation, is believed to have originated from early Spanish settlers in the region. In New Mexico, it accounts for at least 90% of familial cases of CCM. Dr. Tarun Girotra, a neurologist at the University of New Mexico Health Sciences Center, remarked on the local prevalence of the condition, stating, “For us, it’s not a rare disease.”

By the time Sakura arrived at Christus St. Vincent Regional Medical Center, she had begun seizing, leading to her immediate airlift to the University of New Mexico Hospital. Although the family was aware of CCM due to a relative’s previous surgery for a brain lesion, Sakura’s mother, Kristina Tafoya, described the experience as surreal. “It almost didn’t feel like it was real life. It was like watching a movie,” she recalled.

Doctors discovered that a cluster of blood vessels near the surface of Sakura’s brain was leaking, prompting serious concerns. Dr. Leslie Morrison, a retired pediatric neurologist, explained that such malformations can lead to significant complications, including seizures, severe headaches, and even death. The number of lesions can vary greatly among patients, with some having none and others having hundreds.

Sakura’s situation was particularly precarious because surgical intervention was not viable without risking damage to her motor skills. Fortunately, after about 24 hours in the hospital, the bleeding ceased. Medical professionals prescribed anti-seizure medication and scheduled regular MRIs to monitor her condition. Although the bleeding stopped, the underlying cluster of leaky vessels remained, as there is currently no cure for CCM.

Research into CCM is ongoing, with studies supported by the National Institutes of Health exploring potential treatments and the genetic factors contributing to the condition. Dr. Morrison noted some lifestyle adjustments, such as vitamin D supplementation and maintaining healthy blood pressure, may help manage symptoms.

New Mexico’s unique genetic landscape has led to increased legislative support for CCM research. In recent years, state lawmakers allocated more than $600,000 in budget appropriations to enhance research and outreach efforts regarding the condition.

As Sakura continues to navigate her health, she undergoes annual MRI scans and regular check-ins to manage her seizures. Despite her medical challenges, she enjoys a typical childhood, attending third grade and expressing aspirations of becoming a tattoo artist. Kristina Tafoya plans to honor her daughter’s journey by getting a tattoo of Sakura’s brain imaging results, symbolizing their resilience.

The Tafoya family’s experience highlights the broader challenges faced by many residents in rural New Mexico concerning access to healthcare. Long distances to specialists and limited resources can complicate timely medical attention. Dr. Morrison, who herself resides in a rural area, understands the difficulties firsthand, emphasizing the need for systemic improvements in healthcare accessibility.

As Sakura grows, her parents remain vigilant about the possibility of another brain bleed, balancing their desire to let her explore activities with the inherent risks posed by her condition. “It’ll always be in the back of our heads: Is this another rupture?” Kristina Tafoya expressed, encapsulating the family’s ongoing journey with a condition that has profoundly impacted their lives.