A rare genetic mutation associated with brain bleeding is alarmingly prevalent in New Mexico, affecting families with ties to early Spanish settlers. The condition, known as cerebral cavernous malformation (CCM), can lead to severe neurological issues and is notably more common in the state than elsewhere in the world.
Sakura Tafoya, a young girl from Santa Fe, experienced the serious implications of this condition firsthand. In the fall of 2021, while playing soccer, she attempted a header that resulted in immediate distress. Following the incident, Sakura fell, struggled to speak, and could not swallow, prompting her family to call for emergency assistance.
Upon arrival at the hospital, initial scans revealed the extent of the damage: a pool of blood on one side of her brain. Sakura’s diagnosis confirmed the presence of CCM, characterized by clusters of blood vessels that can leak and cause various neurological symptoms. According to the Alliance to Cure Cavernous Malformation, approximately 1 in 500 individuals may have at least one malformation, though most remain asymptomatic. An inherited form of CCM affects about 20%, with the CCM1 mutation particularly prevalent among families of Hispanic descent in New Mexico.
Dr. Tarun Girotra, a neurologist at the University of New Mexico Health Sciences Center, explained that the state sees a high incidence of CCM, noting, “For us, it’s not a rare disease.” His experience contrasts sharply with his previous work in other states, where he saw only a few cases throughout five years of training.
By the time Sakura arrived at Christus St. Vincent Regional Medical Center, she had begun seizing, necessitating an airlift to the University of New Mexico Hospital. Her mother, Kristina Tafoya, described the harrowing experience as surreal, saying, “It was like watching a movie.” Medical scans confirmed that a cluster of blood vessels had leaked dangerously close to the surface of her brain.
Cavernous malformations occur when capillaries form clusters with abnormally thin walls, leading to leaks that can result in bleeding into brain tissue. Dr. Leslie Morrison, a retired pediatric neurologist and professor emerita at UNM, highlighted the serious consequences of these lesions, which can lead to seizures, severe headaches, and even paralysis or death.
The Tafoya family’s connection to CCM did not end with Sakura’s diagnosis. Jared Tafoya, Sakura’s father, had previously experienced unexplained headaches that led to imaging revealing multiple spots in his brain and spinal column. Despite initial confusion regarding the condition, he later confirmed his own diagnosis of CCM, linking it to a familial history of neurological issues.
In New Mexico, the CCM1 mutation accounts for at least 90% of cases, often revealing a family history of related neurological conditions. This pattern underscores the significant impact of genetic factors on health in the region. Dr. Morrison elaborated on the familial nature of the disorder, stating that many patients may carry the mutation without realizing it, often learning about their condition only after a relative undergoes diagnosis or treatment.
Surgical intervention for Sakura was deemed impossible due to the location of the bleed. Fortunately, her brain’s natural healing process halted the bleeding within 24 hours. Doctors prescribed medication to manage her seizures and recommended regular monitoring through MRI scans.
There is currently no cure for CCM, and treatment options are limited. Ongoing research aims to explore potential therapies, including lifestyle changes that may mitigate symptoms. Earlier studies have indicated that maintaining healthy vitamin D levels and blood pressure may help manage the condition.
Recent legislative efforts in New Mexico have supported CCM research at UNM, with appropriations exceeding $600,000 allocated for research and outreach on the disorder. Dr. Girotra emphasizes the clinic’s dual focus on finding a cure and helping patients manage their symptoms effectively, providing necessary medications and referrals to specialists when needed.
Despite these advances, patients in rural areas of New Mexico often face significant barriers to accessing care, including long travel distances and provider shortages. Many families, like the Tafoyas, must navigate the challenges of balancing appointments with everyday life, which can lead to financial strains.
As of now, Sakura continues to attend third grade, participating in dance and nurturing her artistic ambitions. Her mother has plans to commemorate Sakura’s journey with a tattoo of her brain’s imaging results, a reminder of their resilience. Yet, the fear of another brain bleed lingers for her family, influencing decisions about her activities and overall well-being.
The Tafoyas’ story sheds light on the complexities of living with CCM, illustrating the intersection of genetics, healthcare access, and family dynamics in New Mexico.
