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Deadly Brain Disease May Be Traced Back To Early N.M. Settlers

By Olivier Uyttebrouck
Copyright © 2009 Albuquerque Journal Of the Journal
          Connie Saiz was 3 years old when her grandmother noticed one day that the girl couldn't stand on her own or control the movement of her eyes.
        The Rio Rancho girl's condition became worse in the months that followed as bleeding in her brain further damaged her brain stem, which is packed with nerves that control motor and sensory functions.
        Connie, now 5, has a defective gene she shares with an estimated 10,000 or more New Mexicans who descend from some of the state's oldest Hispanic families.
        The illness, called cerebral cavernous malformation, or CCM, is a potentially deadly brain disease that is more prevalent in New Mexico than anywhere else.
        "We have the highest density in the world of the familial form" of CCM, said Dr. Leslie Morrison, a University of New Mexico professor of neurology and pediatrics and Connie's physician.
        The gene that causes the illness in New Mexico, designated CCM1, contains a harmful defect called the common Hispanic mutation.
        "There aren't any other large populations like this in the world," Morrison said. And because CCM is rare elsewhere, she said, researchers here have difficulty obtaining federal funds to study the disease.
        Morrison said she gives public lectures and distributes literature to help educate New Mexicans about the disease.
        "Every time we do an educational piece in the media or
        I do a talk, I get a batch of new referrals," she said.
        Connie still struggles with the effects of the crisis that nearly took her life in 2007. Her mother, Patsy Gallegos, rattles off a long list of her daughter's physical challenges.
        "She can stand on her own if you're holding her arm," Gallegos said. But Connie has a poor sense of balance and cannot walk. She has learned to crawl but relies on a wheelchair in public.
        Connie has difficulty swallowing. Her eyes are crossed. She has lost her blink reflex and needs drops to keep her eyes moist.
        Facial paralysis prevents her from smiling or showing emotions. But Connie is bright and resourceful. On a recent trip to Morrison's clinic at UNM, the girl pushed up the corners of her mouth to simulate a smile.
        Connie also likes to talk.
        "She couldn't talk for a long time," Gallegos said. "She's very outspoken now. She gets around by crawling and talks a lot."
        Connie's condition appears to have stabilized. She recently completed preschool and will enter kindergarten this fall.
        But an MRI scan of Connie's brain reveals at least 15 lesions, any of which have the potential to bleed and cause further havoc.
        "Sometimes they behave, and sometimes they cause trouble," Morrison said of the brain lesions as she studied Connie's MRI scan.
        CCM lesions, also called cavernous malformations, are raspberry-like clusters that reside in capillary beds in the brain or spinal cord. Magnetic resonance imaging, or MRI, is the best tool available for identifying the lesions, she said.
        People with the CCM1 gene often develop dozens, if not hundreds, of lesions, Morrison said.
        "Almost everybody who has CCM in New Mexico has multiple lesions, and most come from old families in towns in northern New Mexico," she said.
        The most serious problems occur when, for reasons little understood, the malformations leak blood, damaging surrounding brain tissue, Morrison said. "We don't really know what makes these things cause problems."
        No known cure
        Surgery can sometimes be used to remove lesions and limit the damage they cause. Some symptoms can also be treated, but there is no cure.
        CCM is highly individualized. Some New Mexicans with CCM never develop symptoms. Others, like Connie, develop life-threatening symptoms early in life.
        Still others develop their first symptoms in their 30s or 40s. Among them is Joyce Gonzales of Santa Fe, who at 31 began suffering from a burning sensation in her arms.
        "It was very painful," she said. "I went to at least 10 doctors and got a variety of diagnoses."
        Gonzales, 51, learned she had CCM only five years ago after an MRI revealed she had at least 40 cavernous malformations in her brain and spine.
        "It took me almost 15 years to be diagnosed correctly and that was because of my own persistence," said Gonzales, who is the state coordinator of the Angioma Alliance, a national advocacy group for people with brain illnesses similar to CCM.
        Gonzales underwent surgery several years ago to remove a lesion in her spine that might have eventually left her paralyzed. She still has pain in her arms but is doing well otherwise.
        CCM is autosomal dominant, which means that a child has a 50 percent chance of inheriting the defective gene from a parent with CCM.
        Gonzales has researched her own genealogy and that of nine other New Mexicans with CCM. She found that all are descended from Antonio Baca and Monica Duran y Chavez, who married in Albuquerque in 1726.
        "We think it may go back even further than that," Gonzales said. In fact, the CCM1 gene may have entered New Mexico in the 1590s with the first Hispanic settlers.
        The prevalence of CCM in New Mexico is an example of the "founder effect" that occurs when a small number of individuals breaks away from a larger group, resulting in a population that shares a distinct set of genetic traits.
        For Gonzales and her family, the news is good. A simple DNA test, which costs about $200, has determined that neither her brother nor sister, nor her two children, have the CCM1 gene.
        "I feel like I've hit the jackpot," she said.
        But CCM may not be finished with Connie's family, Gallegos said.
        Connie's 31-year-old father, the likely carrier of the CCM1 gene, has recently experienced severe headaches, which could be a symptom of CCM, Gallegos said. Another member of the Saiz family has recently suffered from epileptic symptoms that have required him to take anti-seizure medication.
        "I had never heard anything about (CCM) in my life until my daughter was diagnosed," Gallegos said. "You would think that, from all the people that have it, I would have heard something."
        Cerebral Cavernous Malformation
        • A potentially deadly brain disease more prevalent in New Mexico than anywhere in the world.
        • Defective gene is shared by thousands of New Mexicans descended from old Hispanic families.
        • CCM lesions, also called cavernous malformations, are raspberry-like clusters that reside in capillary beds in the brain or spinal cord often attacking nerves that control motor and sensory functions.
        • An MRI scan of Connie Saiz's brain shows two dark spots that indicate cavernous malformations. Connie has at least 15 such malformations.

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