New Mexico Grapples with High Rates of Rare Brain Disorder

A rare genetic condition known as cerebral cavernous malformation (CCM) has surfaced as a significant health concern in New Mexico, where cases are reported at a rate unusually high compared to other regions. This disorder involves clusters of blood vessels in the brain that are prone to leaking, leading to severe neurological issues. The situation came to light through the case of Sakura Tafoya, a young girl from Santa Fe, who experienced a life-threatening incident during a soccer game in the fall of 2021.

While playing, Sakura attempted a header, a common maneuver in soccer. Shortly after, she began to feel unwell, collapsing and struggling to speak. Her father, Jared Tafoya, recognized the seriousness of the situation and called for emergency assistance. Following an ambulance ride to Christus St. Vincent Regional Medical Center, doctors discovered a pool of blood on one side of her brain, caused by a leak from a cluster of blood vessels associated with CCM.

CCM is estimated to affect about 1 in 500 individuals, yet most do not exhibit symptoms. According to the Alliance to Cure Cavernous Malformation, only around 20% of cases, or approximately 1 in 2,500 people, inherit the condition. In New Mexico, however, the prevalence of the inherited form of CCM is significantly higher, particularly among those of Hispanic descent. Genealogical studies suggest that the CCM1 mutation, a primary cause of familial cases, can be traced back to early Spanish settlers in the region.

Impact of CCM on Families in New Mexico

Dr. Tarun Girotra, a neurologist at the University of New Mexico Health Sciences Center, noted the frequency of CCM cases in the state: “We see it every day. New Mexico sees it every day.” This stark contrast to his experience in other states, where he saw only two or three cases during five years of training, highlights the unique challenges faced by families in New Mexico.

Sakura’s condition escalated quickly, leading to multiple seizures and her intubation and airlift to the University of New Mexico Hospital. Her mother, Kristina Tafoya, described the experience as surreal, spending five days in intensive care with little sleep. Scans revealed that a cluster of abnormal blood vessels had leaked blood into her brain tissue.

Cavernous malformations occur when capillaries, which normally deliver oxygen and nutrients, cluster together with abnormally thin walls, resembling mulberries in the brain. Such lesions can lead to serious complications, including seizures, severe headaches, and even death. Dr. Leslie Morrison, a retired pediatric neurologist and professor emerita at UNM, indicated that the number of lesions can vary drastically among patients, with some having none and others having hundreds.

Challenges in Treatment and Ongoing Research

Sakura’s case was compounded by the complexity of her condition. Surgery was deemed too risky due to the location of her brain bleed, so doctors opted for a conservative approach, allowing time for the bleeding to stop naturally. Fortunately, the bleeding ceased within 24 hours, and Sakura was discharged with medication to manage her seizures.

There is currently no cure for CCM, and existing treatments do not effectively prevent hemorrhages or the growth of lesions. Researchers are actively investigating potential therapies, including lifestyle changes and supplements. A recent study funded by the National Institutes of Health examined the effects of the CCM1 mutation, linking it to vitamin D depletion and the condition of gut bacteria in patients.

The New Mexico Legislature has acknowledged the prevalence of CCM by allocating over $600,000 for research and outreach efforts in recent years. Dr. Girotra emphasized the importance of managing symptoms and improving the quality of life for patients, noting that many families face significant barriers to accessing care in rural areas.

Four years after her initial bleed, Sakura continues to receive regular check-ups, including annual MRI scans. Despite her condition, she enjoys a relatively normal life, attending third grade and pursuing her dream of becoming a tattoo artist. Her family remains vigilant, balancing the desire to let her enjoy childhood activities with the understandable anxiety about potential future complications.

As families like the Tafoyas navigate the complexities of CCM, the ongoing research and support from local institutions offer hope for better management and understanding of this rare but impactful disorder.