Central Pa. native Emma Will is an active college student who has lived with Marfan syndrome for more than 10 years.
At the age of 11, Emma’s parents noticed that her ribs flared outward and her breastbone was sunken into her chest. This is a condition called pectus excavatum. The issue raised concerns, leading Emma’s parents to schedule an appointment with a doctor.
“At the appointment, the doctor determined that I had a heart murmur caused by mitral valve prolapse,” says Emma.
In mitral valve prolapse, the mitral valve of the heart doesn’t close properly. This causes the valve leaflets to bulge backward into the left atrium.
This improper closing can cause blood leakage and arrhythmia or irregular heartbeat. The condition is present in 60% of people with Marfan syndrome.
“Due to this diagnosis and my abnormal sternum and rib development, I was told Marfan syndrome was a possibility, and I would need genetic testing,” she says.
Emma underwent genetic testing and got diagnosed with Marfan syndrome at the age of 12. Marfan syndrome is a rare genetic disorder that affects the body’s connective tissue and can cause serious issues in the aorta and heart valves.
“I received care from a local PCP and pediatric cardiologist to manage my condition,” says Emma. “I underwent regular heart monitoring and testing.”
As Emma went through puberty and matured, doctors prescribed medication to prevent her aorta from dilating further.
“As a senior in high school, I got into Grove City College. Since the school is outside of Pittsburgh, I needed to find a cardiologist closer to me. That’s when I learned about UPMC and Dr. Hoskoppal,” says Emma.
Emma scheduled an appointment with cardiologist Arvind Hoskoppal, MD, who specializes in adult congenital heart disease and serves as co-director of the UPMC Center for Aortic Disease.
“When I first met Dr. Hoskoppal, I was impressed by his familiarity with Marfan syndrome,” says Emma. “He works with a lot of Marfan patients, which made me even more comfortable and assured in the care I was receiving.”
Since seeing Dr. Hoskoppal, Emma has remained on the same medication to manage her condition and was recently diagnosed with a slight arrhythmia.
“I’ve been able to undergo more testing at UPMC and learn how to better live with Marfan syndrome. With Dr. Hoskoppal, I had a stress test, lung capacity test, and multiple MRIs,” says Emma. “MRIs are super important to get a comprehensive evaluation of the heart and aorta.”
In addition to medical management, Emma has learned about important lifestyle changes and activity guidelines to reduce her risk of complications.
“The individualized care at UPMC has made me better understand my specific case of Marfan syndrome. Through discussions with Dr. Hoskoppal and the care team, I have learned how to best take care of myself,” says Emma.
“With Marfan syndrome, I can’t lift heavy objects or do some strenuous exercises. I know it’s important to stay hydrated and get good sleep.”
What’s most important to Emma is her ability to continue dancing, acting, and singing in musicals. With great care and management of her condition, Emma is an active participant in the theater program at Grove City College.
“My time is split between theater and my major, molecular biology. My experience living with Marfan syndrome has led me to pursue a career as a genetic counselor after I graduate,” says Emma. “Dr. Hoskoppal was able to connect me with genetic counselors at UPMC to shadow.”
In addition to her future career aspirations, Emma’s condition and care at UPMC have linked her to providers and fellow Marfan syndrome patients. She first attended a patient symposium in fall 2023 hosted by the UPMC Heart and Vascular Institute for people living with Marfan syndrome and other genetic connective tissue disorders.
“The patient symposium was very interesting. I had the opportunity to hear from many specialists and connect with other people with Marfan syndrome for the first time,” says Emma. “I got the impression that all the UPMC providers really care about their patients.”
Emma was able to reconnect with providers and fellow patients at the Marfan Walk for Victory in May 2024.
“I have been to two events for Marfan patients hosted by UPMC so far, and I’m hoping to continue connecting with people and becoming more involved in the community,” says Emma.
Emma is excited to graduate from college this spring and start her master’s degree in genetic counseling at the University of Cincinnati this fall. She follows up with Dr. Hoskoppal annually to monitor her heart and aorta.
Emma's treatment and results may not be representative of all similar cases.
