Shining a light on silent disease
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10/9/2008 - 10/9/08
When a burning pain in her forearms first doubled her over 15 years ago, Joyce Gonzales had no idea what was happening to her.Neither did her doctors throughout the three months of torture that flared whenever anything touched her arms.
But it went away, for more than a year, and so she shrugged it off and went on with her life — until it came back again, and again, over the years.
"From my pinkie to my elbow, I just felt like I had pins and needles, burning, sticking in my arms," Gonzales said. "I took ibuprofen for the pain, which it turns out was the wrong thing to do, and I took lots of medical tests, but nobody knew what was going on."
The trend of mysterious pain and remission continued until about four years ago, when Gonzales finally learned she had a rare genetic disease called cavernous angioma, an ailment that is oddly common in Hispanics from Northern New Mexico.
And when she found out what the problem was, it was almost too late — a pocket of blood in her spinal cord caused by the disease started
to bleed and nearly left her paralyzed, she said.
"They got me in surgery and got it just barely in time," Gonzales said. "To this day, though, my left arm still has that same feeling of pins and needles stuck in it, and it's constant now. That won't go away, but I consider myself fortunate compared to what could have happened."
About six months ago, the City Council passed a resolution to establish Oct. 5-10 as the first Cavernous Angioma Week in Santa Fe.
The goal is to inform the public about the dangers of the disease, which could unknowingly affect between 10,000 and 30,000 Hispanics in Northern New Mexico.
"It's sort of a silent disease," said Leslie Morrison, a professor and neurosurgeon at University Hospital in Albuquerque. "It's genetic, but sometimes it appears to skip generations. It appears to be inherited from one founder who came to New Mexico perhaps as early as 1598 with (Don Juan de) Oñate."
That founder appears to have been Spanish, but the New Mexican form of the disease has never been found in Spain, she said.
Cavernous angioma is caused by a faulty gene that creates a weakness in some parts of vein walls in the blood system. Those weakened areas expand and fill with blood, growing into raspberry-shaped clusters, Morrison said.
Sometimes those clusters do nothing, but problems occur when those clusters burst, especially if they occur in the brain or spinal cord. In the brain and spine, bleeding clusters can cause epilepsy, severe headaches, strokelike symptoms and chronic pain, among other things.
And other than watching them and removing one in its entirety after it starts leaking, there's not much medically doctors can do to treat patients, Gonzales said. She still has about 20 of them in her spine, but operating to take them out is too dangerous, she said.
"People are treated on an individual basis, but it's good to know what the problem is," Gonzales said. "If you know, at least you can avoid taking things like aspirin, which is a blood thinner and can make things worse."
Gonzales' mother had arthritis, and she used to take aspirin. She also ended up having cavernous angioma, but died of complications before she was diagnosed.
The disease also killed Gonzales' 9-year-old cousin a few years ago, she added.
Cavernous angioma occurs all over the world and is caused when any one of three different genes are defective. It's rare, but in Northern New Mexico, because the population has generally remained together in the same place, the disease has spread throughout the community over generations, Morrison said.
"There's also a large cluster of people who have this in Chihuahua, we're finding, but it seems they're also descended from this same founder in some way," Morrison said.
Because of its prevalence in New Mexico, The University of New Mexico has taken an interest in cavernous angioma. Neurologists at University Hospital are working on several projects related to the disease, Morrison said.
"One thing we're trying to find out is if there's a correlation between the size and number of lesions, and how that relates to the severity of symptoms," Morrison said. "We're also looking at women and the delivery of babies. There's some fear that if a woman with the disease pushes, there will be more hemorrhaging. But we want proof of that so that if it's not true, women don't have to have needless C-sections."
Another project is focused on finding the genealogy of that original founder and tracing his descendants to the modern-day population. And the university is trying to get a five-year grant from the National Institutes of Health for a group of other cavernous angioma-related research, she said.
"On the medical side, we also have a monthly clinic," Morrison said, where people can get genetic testing and counseling at UNM's monthly clinics in Albuquerque.
The test is only about $200, and most insurance covers it, Gonzales added.
"It's certainly worth getting tested," Gonzales said. "Knowing what it is, even when many doctors don't, can save your life."