"...sitting silently in the left middle cerebral artery in her brain, like a ticking time bomb, was an aneurysm 5 millimeters in diameter."
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Scientists have long known that genes can play a role in the development of a brain aneurysm, a balloon-like bulge or blister on an artery in the brain.
Lois is not a scientist, but she also knows about the tendency of life-threatening brain aneurysms to run in families. Lois was in grade school when her grandmother died after a brain aneurysm ruptured and caused massive bleeding inside her skull. She was a young woman when her mother, only 55, died of a ruptured aneurysm. In the following years, three other family members died the same way: an aunt and cousin who were in their 50s, and a newly married 23-year-old niece.
“We’ve always seen death,” Lois said.
In July 2004, Lois’s sister became the sixth family member to suffer a ruptured brain aneurysm. Her sister survived, however, and during her sister’s treatment and rehabilitation, Lois discovered a ray of hope for her own future. While visiting her sister at the Indianapolis hospital near her home, she found information in the waiting room about the Familial Intracranial Aneurysm Study, also known as the FIA Study. The federally funded study offers screening to people who have two or more first-degree relatives who have experienced a ruptured aneurysm.
The goal of the FIA Study is to identify genes that may increase the risk of aneurysm development in the brain, and to determine the effect of environmental factors (including cigarette smoking and high blood pressure) on the expression of these genes. Participants complete a family and medical history questionnaire, have their blood pressure taken, and have a small sample of blood drawn. Some family members also are offered the opportunity to undergo magnetic resonance angiography (MRA), a non-invasive diagnostic test that can detect undiagnosed brain aneurysms. The cost of the MRA is covered by the study. One of the study sites, at the University of Cincinnati, was just a few hours’ drive from Lois’s home.
“I started talking to people in my family to see if they wanted to be part of the study,” Lois said. Eventually, Lois and all of her siblings were tested.
Screening involved having an MRA, a test that uses a powerful magnetic field, radio frequency waves, and computers to produce images of the blood’s movement through blood vessels.
Fearful not of the test but of what it might reveal, Lois decided to make some preparations. “Before I had it done, I went out and made out a will,” she said. “I just felt like something was wrong. I was trying to mentally prepare myself just in case.”
Lois had her MRA test at the Indiana University Medical Center in Indianapolis. “It was one of the easiest tests I’d ever had done, period,” Lois said. “There was nothing to it. It took about an hour.”
The test confirmed Lois’s worst fears, however: sitting silently in the left middle cerebral artery in her brain, like a ticking time bomb, was an aneurysm 5 millimeters in diameter.
But there was also good news. The aneurysm could be treated. Lois did not have health insurance, but Dr. Mario Zuccarello, a professor of neurosurgery at UC and a neurosurgeon with the Mayfield Clinic, agreed to operate. “He saw me in his office, showed me how big the aneurysm was and where it was and said he’d be glad to do the surgery,” Lois said. “When he told me he’d take me, I jumped up and hugged him. I think I shocked him.”

The surgery was successfully performed in September 2005. Dr. Zuccarello performed a craniotomy, a procedure in which the skull is opened, and then placed a small clip across the aneurysm at its neck, or base. Deprived of blood flow, the aneurysm was no longer at risk of rupturing and was no longer a threat to Lois.
The FIA Study also revealed aneurysms in two other family members, who also underwent preventive surgery.
Lois, who has been married nearly 40 yeas, is enjoying her life without the chronic worry that can plague individuals with a family history of brain aneurysms. She helps care for her seven grandchildren, plays on the computer, volunteers at her church, and reads.
“I really hope they extend the study so that it can include our children,” Lois said. “I’ve been more than blessed.”
Participation in the Familial Intracranial Aneurysm (FIA) Study is voluntary and is limited to families with affected siblings or three affected family members. To request additional information or to enroll in this study, please contact Laura Sauerbeck at the University of Cincinnati, Department of Neurology at 513-558-1742 or toll-free at 1-800-503-3427. Information about the study also can be obtained via email at laura.sauerbeck@uc.edu or by visiting http://www.med.uc.edu/neurology/fia.
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Please bear in mind that because every patient is unique,
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