New Mexico’s Hidden Health Crisis: Genetic Brain Condition Affects Families

A rare genetic mutation linked to cerebral cavernous malformations (CCM) is significantly more prevalent in New Mexico than in other regions, impacting numerous families. This condition can lead to serious neurological issues, including seizures and brain bleeds. The situation came to light through the experience of a young girl named Sakura Tafoya, who suffered a traumatic incident during a soccer game that resulted in a critical health crisis.

On a fall day in 2021, Sakura, then just four years old, attempted a soccer move she had observed. Shortly after heading the ball, she became disoriented, fell, and could not regain her footing. Her father, Jared Tafoya, recognized that something was seriously wrong. An emergency call was made, and an ambulance transported Sakura to a hospital in Santa Fe, where scans revealed a pool of blood on her brain due to a pre-existing condition known as CCM.

Cerebral cavernous malformations are clusters of blood vessels that can leak and cause various neurological symptoms. Estimates from the Alliance to Cure Cavernous Malformation suggest that about 1 in 500 people carry at least one malformation, though most remain asymptomatic. Of those affected, approximately 20% inherit their condition, including Sakura, who has the inherited form of CCM.

In New Mexico, the prevalence of the CCM1 variant, often referred to as the Common Hispanic Mutation, is notably high. Genealogical studies indicate that this mutation can be traced back to early Spanish settlers in the area. According to neurologist Dr. Tarun Girotra at the University of New Mexico Health Sciences Center, the state is seeing a disproportionate number of CCM cases, particularly among patients of Hispanic heritage. “For us, it’s not a rare disease,” he stated, emphasizing the frequency of cases in his practice.

Upon arrival at Christus St. Vincent Regional Medical Center, Sakura experienced seizures, prompting her transfer to the University of New Mexico Hospital. Kristina Tafoya, Sakura’s mother, described the experience as surreal, recalling the intensive care unit as a blur of worry and uncertainty. Scans revealed that a cluster of blood vessels had begun leaking near the surface of her brain.

The malformations result from abnormal clusters of capillaries which can lead to significant complications, including seizures, severe headaches, and even strokes. Dr. Leslie Morrison, a retired pediatric neurologist, highlighted the serious implications of these lesions, stating that they can cause profound changes in a patient’s neurological function.

In the Tafoya family, the history of CCM is not new. Jared Tafoya had previously sought medical attention for recurring headaches, which led to imaging that revealed multiple anomalies in his brain. It was only later that he learned he had CCM when a relative underwent surgery for a brain fissure. According to Dr. Morrison, about 80% of CCM cases are sporadic, but the remaining 20% are genetic and can be passed down through families, particularly those with the CCM1 mutation.

As Sakura’s condition was monitored, the medical team faced challenges regarding treatment options. Surgical intervention was risky due to the location of the bleed, leading doctors to hope her body would naturally stop the bleeding. Fortunately, Sakura’s condition stabilized over the following 24 hours.

While there is currently no cure for CCM, researchers are exploring potential treatments. A recent study at UNM identified links between vitamin D depletion and the severity of CCM lesions. Patients are encouraged to adopt lifestyle changes that may mitigate symptoms, such as maintaining healthy blood pressure and avoiding certain food additives.

The New Mexico Legislature has recognized the need for further research into CCM. Funding has been allocated to support studies aimed at understanding the condition better, especially given its higher incidence in the state. In recent budget sessions, over $600,000 has been appropriated for research and outreach related to CCM.

As Sakura continues to manage her condition, she undergoes regular MRI scans and medication reviews. Despite her health challenges, she leads a vibrant life as a third grader, enjoying reading and expressing her creativity through art. Her mother shares plans for a tattoo inspired by Sakura’s brain imaging, signifying a unique connection to her daughter’s journey.

The Tafoya family navigates the complexities of managing cerebral cavernous malformations while also facing the broader healthcare challenges prevalent in rural New Mexico. Access to specialists can be limited, with many families spending considerable time and resources to seek necessary care.

As the Tafoyas reflect on their experiences, they remain vigilant about Sakura’s health. “It’ll always be in the back of our heads: Is this another rupture?” Kristina Tafoya admitted, highlighting the ongoing anxiety that accompanies living with such a condition. The family’s story underscores the critical need for awareness and research into cerebral cavernous malformations, particularly within communities disproportionately affected by this genetic disorder.