Brandon Wilson was just 7 years old when his father died of a heart attack. It marked the beginning of a sorrowful pattern, with almost all the men in his family dying of heart attacks before reaching the age of 40. Most recently, his older brother Teddy passed away after having five heart attacks.
Since childhood, Brandon, now 38, has known that he too carries the hereditary high cholesterol condition called familial hypercholesterolemia, which significantly increases the risk for early-onset heart disease, heart attacks and stroke.
The weight of his diagnosis and his family's health history has gripped him with fear and anxiety throughout most of his life, and understandably so.
"I had my first heart attack at age 29 and my second at age 30. And I was 35 when I had my third heart attack, which led to quadruple bypass surgery," Brandon says. "And later that same year I had my fourth heart attack. I had basically given up on myself and accepted that this was going to be my fate. But then I found the Family Heart Foundation, which helped me navigate my healthcare.”
“That led me to Mayo Clinic, and now I have hope,” Brandon says.
At Mayo Clinic in Florida, Brandon receives comprehensive and personalized care from a multidisciplinary healthcare team. This includes a specialized group of cardiologists who deliver interventions, medications, and procedures to reduce the risk of heart-related events. Additionally, his neurologist assesses and manages his risk of strokes, while a vascular surgeon monitors for any potential blockages or narrowing of blood vessels.
Brandon considers his cardiologist, Dilip Pillai, M.D., his hero, recognizing the crucial role Dr. Pillai plays in his healthcare journey.
“We have been able to establish good blood flow in most of his occluded coronary vessels with complex coronary interventions, which continue to show a positive outcome,” says Dr. Pillai, who specializes in managing complex coronary artery disease.
Equally important to the integrated care he receives, Brandon says his optimism is also centered on the cutting-edge research underway at the Mayo Clinic Center for Individualized Medicine. There, scientists are working to accelerate discoveries in familial hypercholesterolemia, cancers and other diseases to tailor prevention, diagnosis and treatment to a patient's unique genetic makeup.
Brandon recently joined the Center's DNA sequencing research study, called Tapestry, in hopes that his biological data will be valuable to scientists and potentially help lead to the discovery of treatments that could benefit him, his 3-year-old daughter who also carries the hereditary gene mutation, and countless other families.
"This, to me, is the most important thing I can think of doing," Brandon says.
Familial Hypercholesterolemia affects the way the body regulates and removes cholesterol from the blood. The disorder is primarily caused by a mutation in a receptor gene for low-density lipoprotein (LDL) cholesterol, sometimes called “bad cholesterol.” These mutations hinder the body's ability to remove the LDL cholesterol from the bloodstream, resulting in high cholesterol levels. This leads to early-onset cardiovascular disease, including conditions like heart attacks and strokes.
Through the Tapestry study, Mayo Clinic researchers have sequenced the exomes of more than 100,000 people from diverse backgrounds. They are investigating large-scale patterns of distinctive mutations that fuel diseases in pursuit of translational discoveries.
Meanwhile, research participants have learned if they carry disease-causing mutations for three specific conditions, including familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome — a form of hereditary colorectal cancer.
Exome sequencing analyzes nearly 20,000 genes that provide instructions for making proteins, which play many critical roles in the body. This is where most known disease-causing mutations occur, including those linked to familial hypercholesterolemia.
"Exome sequencing is a transformative tool in our quest to unravel the genetic characteristics of certain diseases, including familial hypercholesterolemia," says Konstantinos Lazaridis, M.D., the Carlson and Nelson Endowed Executive Director for Mayo Clinic's Center for Individualized Medicine.
"Moreover, the contributions of Tapestry will extend beyond individual cases, enriching population-level studies and propelling us toward a new era of precision healthcare," Dr. Lazaridis says.
Dr. Lazaridis plans to lead his team in 2024 in elevating their efforts and broadening their scope of Tapestry to include a much deeper scientific analysis through "omics" research.
Omics is an emerging multidisciplinary field of biological sciences that includes methylomics, the study of the mechanisms of gene regulation; proteomics, the study of the roles, interactions, and modifications of proteins; metabolomics, the study of small molecules, or metabolites in the body; microbiomics, the study of diverse communities of bacteria, fungi and viruses living in and on the body; and exposomics, the study of the effect of environmental exposures to human biology.
"This unique approach will help us advance knowledge of why a specific disease or disorder occurs and how it progresses over time, ultimately paving the way for more personalized and effective healthcare approaches," Dr. Lazaridis explains.
Brandon, who for years was unable to walk more than a few feet because of heart disease complications, is now training for a 5K. He recently treated his family to a trip to Disneyland to celebrate his remarkable progress.
"My hope is that in 30 years from now, or maybe sooner, my daughter and other children with this disorder will say, 'Heart disease used to run in my family, but not anymore.'"
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