New Mexico Family Faces Rare Genetic Condition After Soccer Incident

In a shocking incident during a soccer game in 2021, Sakura Tafoya, a four-year-old girl from Santa Fe, New Mexico, experienced a severe medical emergency that revealed a rare genetic condition known as cerebral cavernous malformation (CCM). Following a header in the game, Sakura fell to the ground, struggling to get back up, slurring her words, and ultimately requiring emergency medical assistance. Initial scans revealed a pool of blood on one side of her brain, a result of the dangerous malformations that characterize CCM.

Cerebral cavernous malformations are clusters of blood vessels that are prone to leaking, which can lead to various neurological issues, including seizures, chronic headaches, and even paralysis. Although the condition is rare, affecting approximately 1 in 500 people, it is notably more prevalent in New Mexico, particularly among those of Hispanic heritage. According to estimates from the Alliance to Cure Cavernous Malformation, about 20% of people with the condition have an inherited form, as seen in Sakura’s case.

Genetic Links to Early Settlers

Researchers have traced the CCM1 mutation, responsible for a significant portion of familial cases, back to early Spanish settlers in New Mexico. Dr. Tarun Girotra, a neurologist at the University of New Mexico Health Sciences Center, stated, “In New Mexico, we see it every day.” This statement reflects the stark difference in the prevalence of CCM in the region compared to other areas, where he previously observed only a handful of cases during his five years of training.

Upon arrival at Christus St. Vincent Regional Medical Center, Sakura began experiencing seizures, prompting her transfer to UNM Hospital. Her mother, Kristina Tafoya, described the experience as a surreal blur, marked by fear and uncertainty. Scans revealed that a cluster of blood vessels had leaked blood into her brain tissue, creating a critical situation.

The malformations, often likened to clusters of mulberries, occur when capillaries with abnormally thin walls come together, leading to leaks. Dr. Leslie Morrison, a retired pediatric neurologist, emphasized the serious implications of these lesions, stating they can result in seizures, headaches, and, in severe cases, stroke or death. Inherited forms of CCM are particularly concerning, as they can result in numerous lesions within a single patient.

Family History and Ongoing Care

The Tafoya family’s experience with CCM did not begin with Sakura. Jared Tafoya, Sakura’s father, reported having recurring headaches during his Navy training, which led to imaging that revealed multiple spots in his brain and spinal column. Although he was unaware of CCM at the time, further testing later confirmed he also had the condition.

In New Mexico, approximately 80% of CCM cases are sporadic, meaning they appear without a family history. However, the remaining 20% are genetic, with the CCM1 mutation being particularly common in Hispanic families. The condition’s inheritance pattern suggests a 50% chance of transmission from an affected parent to a child.

Surgery to address Sakura’s brain bleed was not an option due to the location of the malformation. Doctors hoped for spontaneous healing, which fortunately occurred within 24 hours. Despite this, the leaky capillaries remain, as there is currently no cure for CCM. Ongoing treatment focuses on managing symptoms, particularly seizures, through regular medication and monitoring.

Research into CCM is ongoing, with recent studies suggesting that lifestyle changes, such as vitamin D supplementation and maintaining healthy blood pressure, may help manage the condition. The New Mexico Legislature has also supported CCM research, contributing over $600,000 to initiatives at the UNM Health Sciences Center in recent years.

As Sakura continues her recovery, she undergoes regular MRIs and medication checks to monitor her condition. Today, she is a typical third grader, enjoying reading and art while expressing aspirations of becoming a tattoo artist. In a poignant gesture, Kristina Tafoya plans to have a tattoo of Sakura’s brain imaging, illustrating their unique journey with the condition.

While the Tafoya family strives to live life to the fullest, concerns about another potential brain bleed linger. Kristina Tafoya noted the delicate balance between encouraging Sakura to engage in activities and the fear of injury. “We try not to limit her,” she explained, “but the fear of her hitting her head definitely makes us hold back.”

As they navigate the complexities of living with CCM, the Tafoyas embody resilience and hope amidst the challenges presented by this rare genetic condition.