Marfan Conference 2015

Me (left) and my sister, Madeline

Marfan syndrome, a rare connective tissue disorder, has impacted my life in ways that are both challenging and rewarding. Although I do not have Marfan, my father and younger sister were both diagnosed in 1999. Ultimately, growing up learning and teaching others about Marfan syndrome has allowed me to forge meaning from something that might otherwise be considered a misfortune. By my sophomore year of college, I discovered that genetic counseling is a perfect way to combine my personal experiences and love of science into a career. I am grateful to be involved in a career that can help others with genetic conditions live in a way that is meaningful. 

This year, I accompanied my sister to the Marfan Foundation’s annual family conference in Chicago, IL. The conference is an amazing four day event that includes free medical assessments, workshops, presentations from leading medical experts, and panels where participants can get their questions answered. This year’s conference had two special attendees – Isaiah Austin, the Baylor basketball player who was diagnosed with Marfan syndrome prior to his NBA draft in 2014, and Austin Carlisle, lead singer of the band Of Mice and Men, who also has Marfan syndrome. Having celebrities become involved with the Marfan Foundation has been helpful because the media attention has led to increased awareness and diagnoses that can save lives.

My 5'10" sister, Madeline, and her good friend, Andrea

For many attendees, the Marfan conference is an opportunity to connect with others who face the same challenges. My sister enjoys being around others who look like her and has formed many close friendships over the years. She particularly loves “feeling short” – at 5’10”, my sister is usually one of the tallest girls around, but at the Marfan conference she is below average height!

I attended several Marfan conferences as a teen, but this year was my first time experiencing the conference as an adult and also as a genetic counseling student. As a genetic counselor, I saw the conference through different eyes. I was much more focused on the educational aspects than in the past, although I certainly enjoyed catching up with old friends and meeting new people.

I attended several educational workshops during the conference. Topics of those workshops included genetic testing, heart-related care during pregnancy, staying fit with Marfan syndrome, and family planning options. During the sessions, I witnessed conference attendees share their personal stories about their diagnostic journeys and surgeries and listened to their questions and concerns. All of the information I learned and experiences interacting with conference attendees will be incorporated into sessions with future patients.

Attending an educational conference is invaluable way to obtain insight into what it is like to live with a genetic disorder and the wide variation in peoples’ experiences.  It gives you the opportunity to get to know people who live with a genetic disorder as individuals and friends rather than just a patient, an experience which I believe allows me to better empathize with patients. You will witness firsthand the power of support networks for those living with a genetic disorder. Many national support groups for various genetic conditions host annual conferences and I wholeheartedly recommend attendance for other genetic counseling students or practicing genetic counselors. Even more importantly, be sure to tell your patients about any conference that is offered for their diagnosis and encourage them to attend!

--Hannah Balka, second year student