Amanda Jungkuntz, 42, always knew she was different, but she didn’t know why. Her tall, lanky build, combined with hypermobile joints, made it difficult for her to play sports without risking an injury. Her grandparents pointed out her slender fingers and told her she could be a pianist someday. It wasn’t until Amanda was 17 years old that she found out she had Marfan syndrome.
Marfan syndrome is a rare disorder. According to the Marfan Foundation, only 1 in 5,000 people have it, and the disorder is usually genetic. Amanda’s case was rarer than most. Her disorder was not passed down through her parents’ genes — it was caused by a spontaneous mutation.
“I am that 1 in 10,000,” Amanda said. “No one in my family has Marfan syndrome, so I couldn’t inherit it. It was just tough luck.”
Marfan syndrome is caused by a mutation in the gene that tells the body how to make the protein fibrillin-1. Because connective tissue is made up of proteins, the mutation causes people with Marfan syndrome to have weak connective tissue. This typically affects the heart, eyes, blood vessels, skeleton and neurological system. Common physical features of people who have Marfan syndrome are long limbs, a curved spine, flexible joints, flat feet and crowded teeth, but these features are not present in everyone. The disorder manifests differently in each person, and symptoms can change over time.
“I’ve had so many procedures all over my body,” Amanda said. “I’ve been in and out of the hospital my whole adult life. Marfan syndrome is a disorder that takes over you. It impacts your physical capabilities, and that can take a toll on your mental ability to cope with the disorder. For me, thriving despite it is all about staying dedicated to maintaining my strength.”
It is important for a person with Marfan syndrome to stay as physically fit and strong as possible. Any exercise should be gentle because loose joints and weak connective tissue make them susceptible to falls and other musculoskeletal injuries. Part of Amanda’s routine has been to attend physical therapy at the Froedtert & MCW Sports Medicine Center once a week. Twice a week, Amanda also works with a licensed athletic trainer in the Performance Enhancement Program (PEP). The PEP Program helps people ages 12 and up improve their sports performance abilities through customized training programs. A client may want to train for a specific event, rehabilitate an injury, or, in Amanda’s case, stay as healthy and strong as possible.
“PEP is a way for me to supplement what I’m working on in physical therapy, build on it and stay active and engaged,” Amanda said. “But it’s also such a motivating moment in my day. I appreciate the support from the team at the Sports Medicine Center, and I love training alongside some serious athletes.”
Amanda’s physical therapy appointments focus on a specific injury, ailment, area of pain or area of weakness, but PEP sessions are more flexible and adaptable to what she would like to work on. The exercises emphasize full-body movement and balance. For PEP, Amanda works with different athletic trainers, tapping into the expertise of the group. Her physical therapist and licensed athletic trainers are in close communication between sessions to make sure she’s getting the most out of her appointments.
“Two heads are always better than one,” said Kay Chmielewski, DPT, “especially for a patient with a case as complicated as Amanda’s. Our focus is on maintaining or improving Amanda’s quality of life and function through exercises targeted at increasing her strength, balance and overall stability.”
“We spend a lot of time working on stability and balance, as well as hip and core strength,” said Kahla Hendricks, LAT. “As licensed athletic trainers, we have the medical knowledge and the injury background to work with a person with Marfan syndrome in the safest way possible.”
Because Amanda’s condition requires the care of so many different kinds of specialists, she decided to live near the Froedtert Hospital campus. Amanda has a history of cardiac issues related to Marfan syndrome and receives heart care from Michael Earing, MD, program director of the Herma Heart Institute Adult Congenital Heart Program at Children’s Hospital of Wisconsin. The Herma Heart Institute’s adult program is the largest in the state, and its Marfan Syndrome Program is nationally recognized for caring for children and adults with this rare genetic disorder.
Amanda says longevity is in her genes — her great-aunt is 97 years old. She firmly believes that, with the right expertise and support, she can live a fulfilling life despite Marfan syndrome.
“There was a point in time when I didn’t think I had a future,” Amanda said. “I knew I needed to invest in myself to survive and that’s why I moved so close to the hospital. It’s also why I am in the PEP program. For me, training at the Sports Medicine Center is about self-care. I’m investing in myself because I want to be fit, capable and able-bodied.”
Learn more about Performance Enhancement Programs.
PEP
