Buried in bundles of white, wrinkled matter are 50 to 70 blotches. Some are barely visible specks, while others stretch oddly over large areas. This was the image of Tammy Jonas' brain at 2 years old. She hit her head on a concrete floor and the emergency room administered standard testing for swelling in the brain. Doctors also found an unrelated case of Cerebral Cavernous Malformation (CCM). There is no known cure.
“My dad always told me, Don’t tell your friends,” says Jonas. Her childhood was “very restraining." Her family was ashamed of the disease that triggered seizures lasting 15 seconds to one minute about three to four times a week. Jonas tried several medications, some experimental, but none completely controlled the spasms that caused blurred vision, nonsensical speech and comprehension problems. Because it was hard for her to function, she was taken out of school at age 13.
Jonas' specialist, Dr. Leslie Morrison, a pediatric neurologist at the University of New Mexico School of Medicine, holds a CCM clinic the first Monday of every month to provide care and track patients through a registry. She started by treating children with the disease and expanded to their relatives. With 100 cases—15 percent of which were new—Morrison says, "The story just got bigger and bigger."
Cerebral cavernous malformations affect about 0.5 percent of the population worldwide, according to an article published on May 30 by Genetics Home Reference, the National Library of Medicine's website. However, Morrison confirms New Mexico has the highest population density of the illness in the world, with as many as 30,000 Hispanics affected in the state. The precise number of occurrences is unavailable due to the lack of correct diagnosis, but Morrison says nearly every county has an affected family.
Collecting samples from New Mexican families was instrumental in finding the genes, says Morrison. She collaborated on a study that identified a mutation found in three genes linked to the hereditary form of the disorder. The introduction of the disease is traced to Spanish settlers from the 1590s, and it spread through several generations. By studying family histories, she says, New Mexicans realize relatives remembered for having spells or attacks most likely died from CCM. Still, a majority of people that have CCM may never develop symptoms or have complications from the disease.
In the familial form, one parent can pass the illness to a child, and the infant has a 50 percent chance of testing positive for CCM. Jonas' mother had brain surgery in the ’80s, resulting in extreme memory loss of anything before the procedure and decreased mobility, especially balance. Undergoing genetic testing is also a personal decision, so Morrison suggests counseling because of the guilt parents can sometimes feel about passing the disease to their children.
Rep. Tom Udall says more awareness is needed to address the disease. "When it comes to CCM, ignorance can be deadly,” says Udall, who speaks of patients who were misdiagnosed for years, sometimes resulting in death. "In this day and age, that is just wrong."
Udall introduced a bill on May 13 that, among other initiatives, proposes to expand a clinical database documenting DNA samples and family histories for researchers. "Because of underfunding, the database has had to turn down tissue samples," Udall says. “Given how much we need to learn about CCM, this is unacceptable."
He plans to work with the Hispanic caucus to get the legislation passed, Udall adds, but just getting CCM on the national agenda will make a difference. "Because [the disorder] is so often ignored, we as a country do not feel a sense of urgency in learning about it."
Morrison says UNM is "a high-level resource" but hopes further funding would make it a model for other areas with specific genetic diseases. Her goal is to find a more defined treatment that will stop a lesion from growing or hemorrhaging. Due to the high density of people with CCM in New Mexico, Morrison says, "this is the perfect place to conduct studies."
CCM produces abnormal blood vessels that form pockets filled with blood. A special layer of cells lines the pockets and keeps the blood contained. These lesions resemble bubble clusters and are called cavernous angiomas. They range in size from microscopic to inches in diameter. If the clusters on the brain or spinal cord grow, the pressure can cause seizures. If the blood leaks through the cell lining, the hemorrhage can be fatal.
"In a sensitive location, even a little bit of bleeding can be devastating," Morrison says. Lesions can form over time and are also found under the skin, she adds. CCM's symptoms include weakness in the arms or legs and headaches. The malformations are detected through specific scans, such as MRIs or a new technology, Susceptibility Weighted Imaging. These examinations only reveal areas that are inflicted at the time of testing, and lesions grow or change. CCM patients need to get regular checkups, advises Morrison.
"We know so little about what to tell people," she admits. She puzzles over how cholesterol or blood pressure play a role, if common medications like aspirin cause more harm and why certain patients have more lesions or are severely disabled. "These are all answerable questions that can be found by collecting data."
Surgery is advocated for patients with recent hemorrhages, but Morrison stresses it isn’t possible to know with certainty what lesion causes seizures. Jonas had brain surgery in October 2006, and it took two months to recover. But she was finally freed from the seizures she’d been having two to three times a week, complicating her adult life. She hasn’t had one since. "It was the best decision that I have ever made in my life. I have no regrets at all,” Jonas says. "I sort of feel like I have been reborn.”
After being diagnosed, Joyce Gonzales began searching the Internet about the illness, which led her to the nonprofit organization Angioma Alliance. As the group's New Mexico Coordinator, she says CCM is an issue affecting a wonderful culture, and people with power should recognize how significant this illness is and “do what is necessary to make a difference."
As part of a yearly conference in Santa Fe, the Angioma Alliance provides networking and education to medical professionals and the public. Morrison, who is on the Science Advisory Board, says as information in the state spread, she received more referrals. "My last few clinics have been overbooked, and I think that trend will continue," Morrison predicts.
“I would never have been able to get through that time in my life if it wasn’t for the Angioma Alliance,” Jonas says. Group members help in preparing for surgery, recommending doctors and discussing medications. Jonas, who is now 25 years old, adds that talking about fears and concerns alleviated the isolation she felt as a child.
Gonzales, who had emergency spinal cord surgery three years ago, says she is happiest that her two children do not have the gene mutation. That means in her immediate family, the illness will end with herself, because CCM cannot skip a generation. Jonas has one lesion that is bleeding in the center of her brain and admits, “It is scary. Every day it is on my mind.”