Patient Stories
Shauna Planck

Mapping Out a Family Tree: Shauna Planck’s Story of Understanding Genetic Cardiomyopathy

We’d like to introduce you to Shauna Planck! Shauna is both a member of the cardiomyopathy community and a cherished member of the DCM Foundation team. She does outreach to clinicians, manages our relationships with biotech companies, and helps oversee the patient registry. She’s a true rock star!

Shauna’s personal story illustrates how genetic cardiomyopathy can impact a family and how important getting specialized care can be.

Shauna’s dad was diagnosed with congestive heart failure in the early 2000s and received a heart transplant in 2012. Shauna’s grandmother and great grandmother both died of heart failure. Despite this, the doctors were adamant that there was no genetic component to her dad’s heart failure. In fact, she wasn’t even aware of the term “cardiomyopathy”.

Around the same time, Shauna started having heart palpitations. She was in college and generally healthy and active. Nobody connected the dots between her symptoms and her family health history, so she carried on and gave up caffeine.

In 2016, thanks to her employer, she participated in a full genome sequencing event that identified a mutation in the LMNA gene. Tragically, she also experienced a late pregnancy loss this year. An exome sequencing conducted on the baby found the LMNA gene as well. As a result of the sequencing, Shauna was connected with a genetic counselor whom she praised as “amazing”. She credits counselor Jean Jirikowic’s expertise and specialization as she mapped out her family tree as it related to cardiomyopathy. Jean even coordinated testing for out-of-state family members so they could be more informed of their own genetic reality.

Empowered by knowledge and the support of her counselor, she was able to get new treatments and manage her next pregnancy proactively. But, once again, her community supported her when she needed it most.

While working at the University of Colorado Hospital, Shauna participated in a mock health simulation. During the simulation, a friend noticed disturbances in her heart rhythm. She printed out the rhythm and encouraged Shauna to take it to her heart failure cardiologist, Dr, Prateeti Khazanie. She started new medication and was referred to a specialist obstetrician whom Shauna also described as “wonderful.” She was in good hands when she was admitted to the High Risk OB floor and then into the Cardiac ICU after she experienced multiple episodes of non-sustained ventricular tachycardia. 

After a week of tumultuous and admittedly terrifying days, she had her baby safely and they both recovered in the hospital.

Shauna states that she has gone through “ups and downs” but “feels so much better” overall. She’s received a variety of treatments and different medications over the years, still working with the same cardiologist and electrophysiologist.

The stress of working full time and caring for her son with autism was not good for her heart, so she moved to part time work in 2024. While she does feel like she’s lost out on some of the physical activities she used to love, she feels fortunate to be able to work less and spend more time with her family. She uses her experiences to advocate for her own family to get genetic testing and be proactive with their heart health.

She knows she will likely need a heart transplant but has the personal experience and medical team to keep her as healthy as possible and set up for success when the time comes.

When asked what she would like to share with other members of the cardiomyopathy community she said, “Prioritize finding a trusted, capable team that sees you as a true partner. Surrounding yourself with competence is key.” ” 

Thank you for sharing your story, Shauna!