When Melissa was getting ready to start a family, she wanted to know whether her child would carry the same genetic variant that she had – for a heart condition known as Long QT Syndrome. Thanks to a test called fetal magnetocardiography, Melissa was able to learn crucial information about her baby’s heart before she was even born.
A Family's Genetic Journey from Tragedy to Awareness
Melissa was diagnosed with Long QT Syndrome, a genetic heart rhythm condition, after her sister, Christie, passed away suddenly in her sleep at just 24 years old. Christie was a seemingly healthy and active young woman who planned to return to school to pursue human services or education. Christie didn’t get to fulfill her dream of helping students – but she did help her very own family in a big way.
“After Christie passed unexpectedly, my brother and I were both given a full check-up and genetically tested because there was nothing that explained why she passed away, and doctors didn’t know if it was genetic,” says Melissa. “What they found was that I have Long QT Syndrome, and Christie had it too.”
Melissa’s family is protected now that they’ve been diagnosed and treated for potentially dangerous heart rhythms with medications and devices. “My sister was not diagnosed, she was not treated, nor was she careful. Why would she be?” she says. “But, we are.”
Innovations in Prenatal Care: Detecting Long QT Syndrome Before Birth
Melissa first heard that it was possible to know whether a baby has a heart condition like Long QT Syndrome while still in utero during a SADS Foundation Family Conference. She knew she was planning to start a family soon and took note of the speakers’ names: Dr. Janette Strasburger and Dr. Bettina Cuneo.
After she became pregnant and met with lots of medical professionals, Melissa was feeling uncomfortable with the uncertainty around whether her condition would be passed down to her unborn child: offspring of individuals with Long QT Syndrome each have a 50% chance of inheriting the condition.
Melissa worked with her care team to discuss her options to find out more information. “This was a great group of doctors and professionals, but I often felt like the most knowledgeable person in the room when it came to Long QT and pregnancy,” she says. “Dr. Cuneo connected me to a study in Wisconsin that could detect Long QT in the baby.”
The Power of Genetic Knowledge
At the study in Wisconsin, Dr. Strasburger discovered a prolonged QT interval in Melissa’s soon-to-be-born baby. She discussed the implications of the results and things to look out for with Melissa and her husband. Dr Strasburger also shared the information with Melissa’s care team at home so everyone knew what to expect. With this information about her child on hand, Melissa and her care team were ready to welcome her new baby to the world.
“Years later, when I saw Dr. Strasburger at another SADS conference, I teared up a bit as I hugged her and introduced her to my parents,” she says. “I am forever grateful to her and Dr. Cuneo – my lifelines while pregnant.”
How Genetic Counseling Can Help
“Melissa’s story is a testament to the power of genetic testing and knowing your family history, both things genetic counselors stress as being imperative to heart health. Individuals with a family history of sudden cardiac arrest and/or death can seek genetic counseling to learn whether genetic testing can help discover an underlying genetic cause, which can have major impacts for other at-risk relatives, and generations of children to come”, said Amy Sturm, MS, CGC, genetic counselor, and NSGC’s cardiovascular genetics expert.
Understanding family history with the aid of genetic counseling can help you and your family determine genetic risk for a number of inherited heart conditions, including Long QT Syndrome, congestive heart failure and atrial fibrillation. If you are wondering how a genetic counselor can help or are interested in scheduling a genetic counseling session, you can find one in your area using this tool: https://findageneticcounselor.nsgc.org
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