I was in grad school, listening to my teacher describe connective tissue disorders, a set of genetic conditions that affect the tissues that connect and support the body, when my heart sank. My mouth went dry and I started to panic. He explained symptoms like pectus excavatum (a dip in the chest), sudden death, mitral valve prolapse, and crowded teeth. These were terms I was starting to understand on a professional level but I was already familiar with on a personal level.
My boyfriend has mitral valve prolapse (MVP), a common heart condition. While he likes to think this makes him the Most Valuable Player, it actually means that valves in his heart don’t close properly, making them ‘leak’ and flow backwards when they shouldn’t. In class that day, I learned that my boyfriend and his family were at risk. But if MVP is common, why were they at risk, and what were they at risk for?
Being a genetic counselor, I have a unique job. I understand complex genetic principles, am familiar with genetic syndromes, and am responsible for translating this information to patients and their doctors. A key tool that aids me in understanding medical history that may be relevant for patients and their families is a pedigree. A pedigree analysis involves documenting a family history in the way some may imagine a family tree. The pedigree allows me to see if there are any patterns in the family history that could increase risk for certain conditions to both future and present generations.
When I go through a family history with my patients, I ask about their own medical history, as well as that of their children, siblings, nieces and nephews, parents, aunts and uncles, first cousins, and grandparents. I think of all of these people as part of a puzzle. For example, if I didn’t know about my boyfriend’s sister having a stroke at 17 or his maternal uncle dying suddenly in his 40s, my boyfriend’s MVP might not look so concerning. That’s the thing about family histories –if you look at each person as a separate entity, you might never put the puzzle together.
Sometimes I reflect on the day I learned about connective tissue disorders. I was previously aware of my boyfriend’s family history, but while I thought it sad, I didn’t understand that it could also be useful. You see, if I never learned about connective tissue disorders, I wouldn’t be able to discuss the risk for these disorders with his family. I certainly wouldn’t be able to advise them on the professionals they should have an evaluation with. I wouldn’t be able to explain why their family history is a powerful medical tool, one that is at the fingertips of most of my patients.