New Mexico’s Unique Genetic Mutation Linked to Brain Bleeds

In March 2021, a seemingly ordinary soccer game turned into a life-altering event for four-year-old Sakura Tafoya from Santa Fe, New Mexico. While attempting a move she had seen from older kids, Sakura hit the ball with her head, leading to immediate distress. Within minutes, she fell, struggled to stand, and experienced slurred speech. Her father, Jared Tafoya, recognized that something was seriously wrong. An ambulance transported her to a local hospital, where scans revealed a pool of blood on one side of her brain due to a condition known as cerebral cavernous malformations (CCM).

Cerebral cavernous malformations are clusters of blood vessels that can leak, causing a range of neurological issues from mild headaches to severe seizures and paralysis. This condition is rare, affecting approximately 1 in 500 people globally, with about 20% of those cases being hereditary, like Sakura’s. Notably, in New Mexico, the prevalence of CCM is significantly higher due to a genetic mutation traced back to early Spanish settlers in the region.

At the University of New Mexico Health Sciences Center, where Sakura was airlifted, neurologist Dr. Tarun Girotra noted a stark contrast in his experience with CCM cases. During his training in other states, he rarely encountered the condition, but in New Mexico, it is a regular occurrence. “We see it every day,” he stated, highlighting the region’s unique genetic landscape.

By the time Sakura arrived at the hospital, she had already started seizing. Her mother, Kristina Tafoya, recalled the harrowing experience of watching her daughter endure seizures during imaging tests. The scans revealed that a cluster of blood vessels had leaked blood into her brain tissue, a critical issue that can lead to severe complications.

The nature of cavernous malformations can be likened to a malfunctioning plumbing system. Abnormalities in the genetic code result in capillaries that should function independently clustering together, creating leaky vessels. These lesions appear like mulberries within the brain, posing significant risks. According to Dr. Leslie Morrison, a retired pediatric neurologist, the location of such a lesion can lead to seizures, severe headaches, and even life-threatening conditions.

In familial cases, the number of lesions can range from none to hundreds, each representing a potential crisis. This reality profoundly impacts the lives of affected individuals. Sakura’s family was aware of the condition through previous health issues in their family, including Jared’s own struggles with recurring headaches.

Jared Tafoya had previously undergone imaging that revealed multiple spots in his brain, but the connection to CCM was not made until later. He eventually confirmed his diagnosis, highlighting the genetic nature of the condition that affects many in their family.

Most cases of CCM are sporadic, but around 20% are inherited in an autosomal dominant manner. This means that there is a 50% chance a parent with the condition will pass it to their children. The CCM1 mutation, particularly prevalent among Hispanic families in New Mexico, accounts for a significant proportion of cases.

For the Tafoya family, surgery was not an option for Sakura’s brain bleed due to its location, leading doctors to hope that the bleeding would stop naturally. Fortunately, it did within 24 hours, allowing for the implementation of a treatment plan that included medications for seizures and scheduled MRIs to monitor the condition.

Despite the cessation of bleeding, the underlying malformations remain, as there is currently no cure for CCM. Dr. Morrison emphasized the importance of ongoing research into potential treatments, including the possibility of lifestyle changes that could alleviate some symptoms. Recent studies have indicated that maintaining vitamin D levels and managing blood pressure may help mitigate the condition’s effects.

The New Mexico Legislature has recognized the need for further research, allocating over $600,000 to the University of New Mexico Health Sciences Center for studies focused on CCM. This funding aims to support patient outreach and research efforts to better understand and manage the condition.

As Sakura continues to attend regular check-ups and MRIs, her family remains vigilant. They navigate the challenges of living with the condition, while also trying to maintain a sense of normalcy. Kristina Tafoya expressed her hope for Sakura’s future, noting that her daughter is a typical child who enjoys school, art, and dreams of becoming a tattoo artist.

The fear of another brain bleed lingers in the background, influencing family decisions regarding Sakura’s activities. While they encourage her participation in dance, they remain cautious about contact sports that could result in head injuries. “It’ll always be in the back of our heads: Is this another rupture?” Kristina Tafoya said, encapsulating the ongoing anxiety faced by families living with cerebral cavernous malformations in New Mexico.