Rare Brain Condition Affects New Mexico Families at Alarming Rates

A rare genetic condition known as cerebral cavernous malformation (CCM) is becoming alarmingly common in New Mexico, affecting families like that of Sakura Tafoya. In the fall of 2021, while playing soccer at just four years old, Sakura attempted a header that led to a life-threatening incident. She experienced slurred speech, difficulty swallowing, and ultimately collapsed. Emergency responders transported her to a local hospital, where scans revealed a pool of blood on one side of her brain.

Cerebral cavernous malformations are clusters of blood vessels that leak and can cause a range of neurological problems, from seizures to paralysis. It is estimated that approximately 1 in 500 individuals have at least one malformation, although many remain asymptomatic. According to the Alliance to Cure Cavernous Malformation, about 20% of cases are inherited, with the CCM1 mutation particularly prevalent in New Mexico, especially among families of Hispanic descent.

Understanding the Genetic Mutation

The CCM1 mutation is believed to trace back to early Spanish settlers in the region. Dr. Tarun Girotra, a neurologist at the University of New Mexico Health Sciences Center, noted that this mutation accounts for at least 90% of familial cases in the state, a stark contrast to the national average where it is responsible for about two-thirds of cases.

In Sakura’s situation, doctors quickly recognized the severity of her condition. After experiencing seizures during her initial treatment, she was airlifted to a specialized hospital for further care. Her mother, Kristina Tafoya, described the experience as surreal, stating, “It almost didn’t feel like it was real life.” Medical scans revealed the source of Sakura’s distress—a cluster of abnormal blood vessels leaking into her brain tissue.

The implications of these malformations are serious. Dr. Leslie Morrison, a retired pediatric neurologist, explained that such lesions can lead to severe headaches, vision changes, and even strokes. The genetic nature of CCM means that it can manifest in various ways, with some patients living in fear of sudden symptoms.

The Challenge of Managing CCM

Sakura’s family was not entirely unfamiliar with the condition. Jared Tafoya, Sakura’s father, had previously sought medical attention for his own recurring headaches, which led to imaging that revealed similar lesions. Despite this family history, the diagnosis of CCM came as a shock.

Most cases of CCM arise sporadically, with only 20% being hereditary. The inherited form is autosomal dominant, meaning each child of an affected parent has a 50% chance of inheriting the condition. The prevalence of the CCM1 mutation in New Mexico creates a unique healthcare challenge for families.

Surgery was not an option for Sakura due to the location of her brain bleed. Instead, doctors monitored her closely, and fortunately, the bleeding ceased within 24 hours. While she left the hospital with medication for her seizures, the underlying condition remained unresolved. There is currently no definitive cure for CCM, and treatment options focus on managing symptoms rather than eliminating the malformations.

Research efforts are underway to better understand CCM. Recent studies funded by the National Institutes of Health have explored the relationship between the CCM1 mutation and vitamin D depletion, as well as the impact of gut bacteria on the severity of lesions. Dr. Morrison noted that certain lifestyle changes, such as taking vitamin D supplements and maintaining healthy blood pressure, could potentially benefit patients.

The New Mexico Legislature has recognized the need for further research into CCM, allocating more than $600,000 over the past two years to support studies at the University of New Mexico. This funding aims to establish a registry for patients and enhance outreach efforts regarding the condition.

For families like the Tafoyas, navigating the healthcare system in New Mexico poses additional challenges. Rural residents often face long travel times to see specialists, creating significant barriers to accessing necessary care. Dr. Morrison expressed concern about these logistical challenges, stating, “Many New Mexico families face serious barriers to accessing care.”

Despite her health challenges, Sakura continues to live an active life. Now in third grade, she enjoys reading and has aspirations of becoming a tattoo artist. Her family is careful to manage her activities, opting for less risky pursuits to prevent potential head injuries.

As they continue to monitor her condition with regular MRIs, the Tafoyas remain vigilant. Kristina Tafoya reflected on their ongoing anxiety, saying, “It’ll always be in the back of our heads: Is this another rupture?” The story of Sakura and her family serves as a poignant reminder of the impact of rare genetic conditions in communities where they are more prevalent.