PRIME TIME
14 March 2012
On the Cutting Edge of Discovery By Maria Elena Alvarez
T
here is a rare genetic mutation lurking in the contemporary bloodline of one of the earliest Spanish colonists to settle in modern New Mexico, one responsible for often times debilitating conditions afflicting his descendants, dozens of generations later. It is difficult to diagnose and there is no cure – but New Mexico enjoys the dubious distinction of having one of the greatest concentration of its victims anywhere in the United States. Last month, New Mexico’s delegation to Congress introduced a bill to increase research and education efforts related to Cerebral Cavernous Malformation (CCM1-CHM), a relatively unknown illness but common among descendants of New Mexico Colonial Hispanics. The bill would authorize a Cavernous Angioma Clinical Care, Awareness, Research and Education (CARE) Center to increase research and awareness about the disease for both
professional and patient education. The problem is not exclusive to New Mexico. Cavernous Angioma affects approximately 1.5 million Americans. Raising awareness is a critical first step because the disease also impacts people of all geographic and ethnic backgrounds – including Olympic track and field superstar Florence Griffith-Joyner. U.S. Senator Tom Udall has worked to raise awareness for CCM1-CHM since he was a member of the House. UNM and New Mexico are the right place for the research because of this state’s high concentration of persons affected by and living with the condition. Creating a Center of Excellence at a southwestern university like UNM would be an important step in developing understanding of the condition. The current legislation has been proposed with support from the University of New Mexico Health Sciences Center community and CCM1-CHM patients. A New Mexico’s Story The Northern New Mexico
Hispanic variant of the condition is the most benign because it originated with a DNA mutation in a single individual that has been passed on for generations. Current thinking is that the founder was either Juan Perez de Bustillo or his wife Maria de la Cruz were members of the Juan de Oñate expedition to New Mexico. Their descendants, Monica Duran y Chavez and her husband Diego Antonio Duran y Chavez are the ancestors of Luis Maria Cabeza de Baca and his wife Margarita Cabeza de Baca, from where my own maternal family descends. I saw epilepsy manifest itself in the first-born son of my older sister and the first-born son of my mother’s sister. Both these males were diagnosed young and suffered from seizures.My cousin was never able to function fully as an adult but my nephew has done better and been seizure-free without medication for more than 10 years. I did not escape this genetic legacy and became symptomatic in 2007. The previous year had been stressful on a number of fronts as I faced the obligations of caregiving my handicapped mother and adult siblings. So, when I woke from a Grand Mal seizure, after months of what turned out to be small seizures, I was convinced it was stress-related and dismissed the diagnosis. My doctors, however guided me to the earnest hands of neurologist Dr. Leslie Morrison, a local expert on the condition and currently leading an NIH study of this condition here. To make me understand she had me wired up for four days and analyzed my seizures over that period with an electroencephalogram (EEG). This procedure maps the electrical impulses triggered by changes in brain activity and is a major tool in diagnosing epilepsy and other such disorders. With the help of the EEG, she made me understand that this was a real disease and not stress. As a result, I was thrust on to the road to discovering the fascinating mystery behind CCM1CHM. As a journalist it is both interesting and disconcerting to be experiencing something on the cutting edge of discovery. Dr. Morrison and her research team are now studying reasons why there are different disease severities in patients. This study will use the
medical history, MRI, and DNA analysis of 500 individuals with CCM1-CHM in order to determine factors that influence CCM severity and variability. This condition is similar only in what it is CCMI1-CHM. The number of cavernous malformations varies from person to person. Whether these malformations (that look like raspberry bubbles containing blood) that are found in both the brain and sometimes the spinal cord, leak or not, and whether they become symptomatic is unique to each person. This varience of symptoms can play crazy games on the minds of those walking around with the condition. I have been lucky in that damage has been minimal and the brain is organic and heals itself over time. However I have made it my business to learn all I can about the brain and practice much of what is known to have positive effects. Mindfulness and a stresscontrolled life are critical. I am convinced meditation and Tai Chi practices have been helpful in my maintaining a calm mind when coping with the natural ebb and flow of stress, which confronts all people. Coming to terms with a peculiar condition like this, late in life, was initially difficult. But fortunately Dr. Morrison puts together an annual gathering for individuals and family members to learn what’s new and what they still don’t know about the condition. At the last event, I remember feeling diminished by the realization that this condition has a life of its own – and then amused to discover that statins, a medication for high cholesterol, might reduce the deadly risk of leakage from the malformations. So far Dr. Morrison has identified 109 participants for her study, but she needs more. If you or someone you know is a descendant of the above-mentioned family lineage and suffer from seizures or severe headaches, you should see your doctor and ask for this blood screening. Other individuals eligible for the study are those who are siblings, parents, or close relative like aunt, cousin or nephew of an individual with the condition. Contact Beth Baca, Dr. Morrison’s clinical research manager at 505-272-3194.