Much like Kathleen did, families have the ability to trace their family health history. The tree can include everything from information on heredity, diet, work, activities and environment.
GENETIC ALLIANCE BY BY CLAIRE MENA
Dr. Kathleen Mimnagh, MD was doing a pediatric genetics rotation in medical school when a geneticist noticed her hand as she inserted an IV. He asked her to do a maneuver that stretched her thumb across her palm. Kathleen’s thumb, unlike most, extended far beyond the edge of her hand.
Kathleen knew that the doctor was alluding to Marfan syndrome, a condition that affects the formation of essential connective tissues located throughout the body. It often manifests itself in visible symptoms such as long arms, legs and fingers, but can also lead to fatal heart problems. Kathleen swiftly responded that she had already received cardiac clearance and ended the conversation.
Spend time during the holidays to speak with your family.
Your relatives can be the best source of information.
Two weeks later she came back to the geneticist and showed him a picture of a family tree she had mapped out. It included her Aunt Kathleen who died at the age of 19. With tall, slender features she was said to be the spitting image of her aunt. She also included her Uncle John, a policeman in Dublin, who died suddenly at the age of 36. Her Uncle Pat and Uncle Peter continued the trend on the family tree with their with lives not spanning past their late 40s. Her father was the last living member of his siblings.
During Kathleen’s third year of medical school, she began noticing symptoms of her own and went to see a top cardiologist at a New York hospital. When she brought the family health history tree to the cardiologist after a series of visits and tests, he dismissed her heart rhythm disturbances, attributing the symptoms to lack of sleep, too much caffeine and high stress.
“I’m really worried; I look just like my Aunt Kathleen. I was named after her,” she told the doctor. “My aunt and my three uncles dropped dead at young ages and my father is the only one left in their generation and looks like them. And I look like him.”
The doctor’s response was to do a stress test.
It was less than two months later when the geneticist noticed her wrist by chance during her pediatric genetics rotation. After denying the symptoms of Marfan syndrome initially, she brought him the family tree.
“That was the beginning of an incredible journey where I got my diagnosis,” said Kathleen.
Soon after, Kathleen began contacting family members. One by one they were soon diagnosed and had the knowledge to receive treatment such as open-heart surgery and proper preventative medications. After that, her family members stopped dying of sudden aortic dissections or of sudden death.
“It was life altering for our whole family,” said Kathleen.
Much like Kathleen did, families have the ability to trace their family health history. The tree can include everything from information on heredity, diet, work, activities and environment.
Having this information on hand enhances family health and genetics knowledge and allows for the identification of trends and patterns. These trends allow families and their physicians to plan a course of action for healthy choices, including preventative care and treatment when necessary.
By the time Kathleen and her husband were ready to start a family, they had enough information to weigh the risks of giving birth and likelihood of passing the condition on to children. A cardiologist monitored her closely during her pregnancy. Kathleen took necessary medications and delivered in the intensive care unit for precaution. While her condition was passed on to her first child, her daughter was able to receive the necessary care from an early age and continues live a healthy life. Her second and third children were born without the condition.
If you have family health concerns, you can create a family health history tree like Kathleen. Spend time during the holidays to speak with your family. Your relatives can be the best source of information. To learn more about creating your family health history tree, click here. •
Dr. Kathleen Mimnagh, MD is an internal medicine doctor in Charleston, West Virginia and serves on the board of directors at the Marfan Foundation. To learn more about Marfan syndrome and the organization, go to www.marfan.org
ABOUT THE AUTHOR:
Claire Mena is an Engagement and Outreach Specialist at Genetic Alliance. She previously worked in breaking news and now focuses on the relationship between health care and enhancing patient-centered information. You can find her @clairemelise
GENETIC ALLIANCE
The world’s leading nonprofit health advocacy organization committed to transforming health through genetics
and promoting an environment of openness centered on the health of individuals, families, and communities.
TREE OF LIFE: Learn how to draw your own family health history tree at www.geneticalliance.org
