Christine Portillo: A Matter of Genetics
Christine Portillo’s story has the power to save lives. It begins in 1998, the year her mother suffered a stroke as the result of two ruptured intracranial aneurysms. “She recovered quickly and went back to work two weeks later, but we don’t remember anyone telling the family that aneurysms can be hereditary,” Portillo says. “And no one told her that she should be checked annually for a recurrence.”
Twelve years later, near the end of 2010, Portillo’s mother was diagnosed with normal pressure hydrocephalus (NPH), an abnormal increase of cerebrospinal fluid (CSF) in the brain’s ventricles that occurs when the normal flow of CSF is in some way blocked. As the ventricles enlarge, pressure on the brain increases. She was admitted to Memorial Hermann-Texas Medical Center under the care of Dong H. Kim, M.D., director of the Mischer Neuroscience Institute and professor and chair of the Vivian L. Smith Department of Neurosurgery at The University of Texas Health Science Center at Houston (UTHealth) Medical School. He placed a ventricular shunt in the fluid-filled chamber to relieve pressure on the brain.
“Our entire family was by her side to help her through the surgery,” Portillo says. “We came in for a follow-up with Dr. Kim about her progress and near the end of the consultation, he said, ‘I’d really like you to see our geneticist.’ So we sat around the table with the geneticist – my mom and dad, my sister and I. My two brothers weren’t with us at the time. They told us we should be checked for aneurysm, and they gave us a letter to give to our family members recommending that they be screened as well.”
Portillo, who is 51, was the first of her family members to undergo screening. The results of a magnetic resonance arteriogram (MRA) and subsequent cerebral arteriogram revealed the presence of five aneurysms, four of which were around the brain and could have caused serious hemorrhage. “Based on her family history and the fact that she presented with multiple aneurysms, she was at higher risk of rupture than patients in the general population, so I recommended surgery,” Dr. Kim says.
Portillo underwent two procedures. On March 21, 2011, Dr. Kim performed a left frontal craniotomy and clipped the aneurysms in the left ophthalmic segment and left posterior communicating artery. At a two-week follow-up visit he noted that she was healing well, with no neurological deficits as a result of the surgery.
“My recovery was actually surprisingly rapid,” she recalls. “Three weeks to the day after the surgery, I was back on my regular workout schedule at the Y.” Between the two surgeries, she helped nurse her husband through a prostatectomy, helped plan her eldest daughter’s wedding, continued her job search online and accepted a position at a Houston-based design and marketing communications firm.
Portillo’s second surgery took place on May 2, 2011. Dr. Kim performed a right frontal craniotomy and successfully clipped two additional intracranial aneurysms – in the right posterior communicating artery and the right anterior choroidal artery.
“During these months of interacting with Dr. Kim and MNI staff, I learned about my risk factors, particularly genetics and smoking,” she says. “I was a light smoker in the past – off and on – and I’m so proud of myself for quitting for good. I’m borderline high blood pressure. Other than that, I think my case was mostly a matter of genetics. I want people to know that if someone in their family was diagnosed with either a ruptured or unruptured aneurysm – whether they’re a child, a sibling or a grandchild – they should be screened. I consider myself so fortunate that mine were discovered, and so grateful to have been operated on by someone of Dr. Kim’s caliber.”
In follow-up, Portillo will be screened every year. She has also encouraged her two daughters to be screened according to the current guidelines – every five years, starting at age 30. Twenty-one-year-old Veronica Portillo is a recent graduate of The University of Texas at Austin, and 24-year-old Elyse Portillo is pursuing a medical degree at Baylor College of Medicine. Portillo’s older sister, who was screened in early 2011, is free of aneurysm.
After consenting to participate, Portillo and her family became part of the more than 500 families affected by intracranial aneurysms that have been described to date in research conducted by Dr. Kim and Teresa Santiago-Sim, Ph.D., an assistant professor in the Vivian L. Smith Department of Neurosurgery. The study was funded by the National Institutes of Health and by the American Heart Association/Burgher Foundation.
“Our long-term goals are to identify causative mutations in intracranial aneurysms and altered molecular pathways that lead to disease,” Dr. Kim says. Working with DNA samples stored in the department’s Neuroscience Research Repository, Dr. Santiago-Sim has used linkage analysis of a large family with a history of hereditary intracranial aneurysms to identify a novel region in the genome. “In the process of characterizing the gene, we think we’ve identified a possible mutation,” she says.
“Standardized electronic health data and samples are collected in a uniform manner, which makes the
information in the database very consistent,” she adds. “It’s also very extensive, describing the type and shape of the aneurysm, whether it was ruptured or remained intact at the time of diagnosis, whether the patient has a positive or negative family history for aneurysms and other possible related inherited diseases such as polycystic kidney disease or stroke. This information will help us identify genotype-phenotype correlations that will ultimately improve the way we manage patient care.”
Portillo’s strongest impression of her experience at MNI is the care she received. “It was phenomenal. We can’t believe how lucky we are to live in a city with such amazing medical resources,” she says. “We felt like we’ve made friends. Because of the compassion of my caregivers, being a brain surgery patient seemed less frightening. Before my surgery, Dr. Kim took my hands in his and said, ‘Don’t be afraid. I want you to live a long and happy life.’ He calmed and reassured me, and I remember being fascinated with his hands. Those are the hands that cured me.”