New Mexico’s Colonial History Offers Clues To A Rare Genetic Disease
"This is my time bomb picture," said Dr. Leslie Morrison. "This is the cavernous angioma, and this is after its bled."
Dr. Leslie Morrison
July 12, 2013

Jenae Jasmine Gallegos liked playing on the trampoline with her two brothers, biking, skating and cheerleading. She was 9 years old when she died.

“She had a cheeseburger at lunch, on the last day of school, and just came home feeling flu-ish and having a headache,” said Tim Gallegos, Jenae’s father. “It just seemed like a bad cheeseburger.”

“She had had headaches before and they seemed pretty bad, but when we would give her Tylenol, her headaches would go away,” said Sandra Gallegos, Jenae’s mother. “In the morning, when Tim got up, she wasn’t responding to us, and we knew something was really wrong.”

Jenae had a blood clot in her brain stem, the end result of the Common Hispanic Mutation, or Cerebral Cavernous Malformation, or CCM1 for short. The disease affects the way the body forms blood vessels in the brain and spinal cord. For many people, the disease never manifests, but for some, it is fatal. It’s also often misdiagnosed.

“People used to call them brain tumors, so we get way too many brain tumors in the family histories of the patients that have this disease,” said Dr. Leslie Morrison, director for the Cavernous Malformation Clinic at the University of New Mexico.“Or they might say they were in a wheelchair and we never knew what caused it.”

CCM1 was first recognized in the 1960s by University of New Mexico researchers who found a familial connection, primarily in the state's Hispanic population. That familial connection has been documented in such places as the New England Journal of Medicine, and the American Journal of Neuroradiology.

“Probably more than 95 percent of our patients who have the familial form have a single gene mutation identical in every one called the common Hispanic mutation,” Morrison said.

New Mexico’s Hispanic population is unique. Their bloodlines aren’t traced to Mexico, instead they descend from Spain’s Hispanic conquistadors that colonized the region. Morrison suspects there are thousands of people in state that have the disease, many of which are undiagnosed. And since the Southwest has the only known large cluster of this disease, Morrison says the likely reason is that CCM originated in the New World as a result one Hispanic couple.

“We have Juan Perez De Bustillo, and he was born in approximately 1558 and then his wife was Maria De La Cruz, and she was born in about 1560,” said Joyce Gonzales, an amateur genealogist.

Gonzales, working with Morrison at UNM, began tracking CCM1 after she was diagnosed. Gonzales said it’s unknown whether Juan Perez De Bustillo or his wife had the mutation, and it’s unclear if one of their parents had it, however, she says one thing is certain.

“Which ever one of them had it, was the first grandparent to bring it to New Mexico, and all of us here in New Mexico, southern Colorado, and eastern Arizona, with the CCM1, all descend from that set pair of grandparents,” Gonzales said.

CCM1 doesn't skip generations, only one parent can have it and descendants have only a 50-50 chance of being born with it. So to map the disease, researchers navigate a sea of Spanish names, and build some very complicated family trees. In Gonzales’ case, she can trace her lineage from Juan Perez De Bustillo’s daughters.

“One of them is Anna Perez De Bustillo, one is Beatrice Perez De Bustillo,” said Gonzalez. “If you take it all the way down, you’ll come to me.”

In the New Mexican Hispanic population, most can trace their ancestry back to just a few couples who helped colonize the Southwest. And by identifying descendants and relatives who may have the disease, researchers like Morrison can gather patients to diagnose the disease and develop treatments.

Researchers in New Mexico have begun human trials of cholesterol drugs that could block the effects of the gene mutation, and New Mexico’s Congressional Delegation has introduced legislation to expand research, education and treatment efforts related to CCM.

But Morrison said for truly effective studies of the disease, more patients will need to be identified.

For the Gallegos family in Santa Fe, this is very important. After losing their daughter Jenae,  they now feel like they are racing to find help for their 11-year-old son Joel, who has also been diagnosed with CCM.

“The more people we can get involved, the sooner we can find a cure, possibly,” said Tim Gallegos. “It’s just very hard living your life with a big question mark hanging over your head all the time.”