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One Family’s Story of Genetic Cardiomyopathy – Awareness is Key

Lea and her daughter

Lea Geli’s story is one that spans three generations and it epitomizes how important it is for doctors and patients alike to be aware of the genetic risks of cardiomyopathy.

Lea knew heart failure caused her father’s passing, but didn’t know the details. He was relatively private in his own life and didn’t share many details of his affliction.

Lea herself started noticing heart troubles as early as 9. Her doctor was confident the arrhythmias and palpitations she experienced weren’t connected to her father’s cause of death so she learned to live with them over the years. She stated that she “just kinda got used to it for a while.”

As an adult, Lea had four children while living with manageable symptoms. However, after her last pregnancy, her symptoms became more severe, which lead to more testing and more rigorous treatment for her heart. She received an EKG and echocardiogram that revealed an unexpected ejection fraction of only 30%. Lea was put on medications for six months in an attempt to correct her arrhythmia and improve her EF. The treatment mostly worked and returned her EF to normal, so again, she learned to accept the treatment indefinitely and live with the symptoms. Still, there was no familial diagnosis and no genetic testing done despite her family’s health history.

That remained true until Lea’s then 16-year-old daughter started reporting heart issues and Lea immediately had her seen by a pediatric cardiologist. It was her daughter’s cardiologist who then recommended genetic testing. This was a first for the family, despite this being the third generation of family members with heart issues. Lea noted, “on a brighter note, the process for testing was really easy, and we also got set up with a genetic counselor to review and discuss the results.”

Thanks to genetic testing, Lea and her daughter were identified to have the DSP gene and were ultimately diagnosed with a form of ARVC: arrhythmogenic right ventricular cardiomyopathy. The DSP gene is known to cause both ARVC and DCM in patients with this genetic mutation. It can manifest as ARVC or DCM or both. 

Following these findings, Lea quickly had genetic testing done for her other three children and her mother. Fortunately, nobody else had the DSP gene. 

With their new knowledge, Lea and her daughter have made adjustments to their lives. The diagnosis came at a critical time for her daughter so she could phase out high cardio activities and learn to avoid stimulants and other drugs before becoming an adult. Due to the gene discovered through testing, they also received insurance approval to purchase an AED for Lea’s daughter to have in case of emergencies.

After Diagnosis

After her diagnosis and DSP gene discovery, Lea herself had an ICD implanted and takes medications to preserve her heart function as preventative measures. Lea and her daughter are both monitoring their symptoms and minding their own limits. They feel very fortunate to be mostly asymptomatic and have the ability to remain healthy.

Despite opportunities to recognize the genetic risks of heart disease earlier in Lea’s life, her family’s story also inspires us to dream about where we will be in three more generations, hopefully with advanced therapies and maybe one day a cure for cardiomyopathies. To achieve this, we need to come together to spread awareness for genetic cardiomyopathy. When asked why she’s sharing her story, Lea said, “I would like this to create awareness. Cardiomyopathy is a very real thing for many people and it’s getting more attention. These diseases exist and the sooner they are identified, the more opportunity to treat them before they become serious.” 

Lea is near and dear to the DCM Foundation’s heart as she is employed part-time with us, helping with administrative and marketing tasks. When asked what she would tell other cardiomyopathy patients she replied, “There is hope. Don’t focus on the fear. The more information you have, the more you know about the disease, the better off you are.” She also wanted to remind everyone not to ignore symptoms. “If something doesn’t feel right, pay attention. Listen to your body when it whispers so you don’t have to hear it scream.”

And finally, “You’re not alone. Other people are experiencing the same symptoms. There is hope for being treated.”

Thank you to Lea for sharing her story. If you would like to learn more about genetic testing for cardiomyopathy, please visit: https://www.geneticcardiomyopathy.org

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