Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.
Could It Be HCM? A Mother-Daughter Duo Raise Hypertrophic Cardiomyopathy Awareness
American Heart Month passed in February—but it is never too late to raise awareness about heart health and potential heart diseases.
For Jessica and Sarah Cothran, a mother-daughter duo, raising awareness is a personal endeavor. In 2018, Jessica was diagnosed with hypertrophic cardiomyopathy (HCM) at 38 years old. After her diagnosis, Sarah underwent genetic testing—and learned that she, too, has the genes associated with cardiomyopathy.
Recently, Jessica and Sarah sat down with Patient Worthy to discuss what hypertrophic cardiomyopathy is, the symptoms to look out for, and why they decided to participate in the Could It Be HCM campaign to raise awareness and educate others on HCM.
The Beginning of the Journey
As a teenager, Jessica occasionally experienced heart palpitations. She was concerned, but since the palpitations came and went, they never seemed like an urgent issue. This symptom continued throughout her teen years and into early adulthood.
In her 30s, Jessica also found herself struggling to climb stairs. As she climbed, she would experience shortness of breath, sometimes having to stop for a break. One day, her husband mentioned that he didn’t think it was normal; maybe Jessica should consider seeing a doctor. But Jessica laughed it off and didn’t think much of it. After all, she lived an active lifestyle and didn’t feel sick.
It wasn’t until she was 38 that her heart palpitations worsened, especially during exercise. At this point, she shares:
“It really scared me. I went to the doctor who detected a heart murmur. While we had known that the murmur existed, this was the first time anybody really looked into it. After further examination and an echocardiogram, the doctor told me that I had hypertrophic cardiomyopathy. I got a lot of information from the doctor, but if you’re unfamiliar with how the heart functions, it can be hard to grasp.”
Jessica was shocked. She had never considered that the shortness of breath and heart palpitations could indicate a lifelong heart disease.
Her doctor then recommended that the rest of her family undergo genetic testing. It was at that point that Sarah, then 15 years old, and her sister learned that they too had the genes associated with HCM. Sarah shares:
“It was anxiety-inducing at first. The entire thing was shocking in general since my mom seemed healthy. But it felt like we adjusted more to it once we spoke with our doctor and he put a plan in place. He was really comforting.”
What is Hypertrophic Cardiomyopathy (HCM)?
Hypertrophic cardiomyopathy, although rare, is considered the most commonly inherited heart condition. In this disease, the Mayo Clinic explains that the heart muscle becomes thickened (hypertrophied), which makes it more difficult for the heart to pump blood.
One of the myths around hypertrophic cardiomyopathy is that it cannot happen in younger individuals. Many people view heart disease as something that impacts older individuals. However, it is important to note that this myth is not accurate. Jessica explains:
“This is a genetic heart condition. It’s easy to think that you can’t get heart disease because you’re young, or that if you have heart disease, you’re the cause. Maybe you need to exercise or get out more. But this has nothing to do with how well you’re taking care of yourself and it has nothing to do with your age, gender, or background. It’s just genetics. If you get diagnosed, don’t blame yourself.”
Some people with HCM may experience no symptoms, while others experience symptoms during exercise or exertion. In others, symptoms may begin mild and worsen over time. Says Sarah:
“If you are having any symptoms—shortness of breath, fainting, heart palpitations, or chest pain—and you have a family history of heart disease or sudden death, please point that out to your doctor. Find a good doctor, someone that you can talk with and who will listen. Follow your treatment and the doctor’s advice. Be aware of how your body feels.”
Fatigue, dizziness, lightheadedness, and swelling in the feet, legs, abdomen, and ankles can also be signs of hypertrophic cardiomyopathy. People with HCM have a higher risk of developing atrial fibrillation and heart failure. This is why it is so crucial to speak with your doctor if you are concerned. There are a variety of treatment options and surgical interventions that can aid in HCM management.
Managing HCM
Since Jessica’s diagnosis, Jessica and Sarah have become better-versed in managing the condition. This includes annual checkups and maintaining a healthy lifestyle. At first, it was frightening for Jessica to know that she and her children at HCM and that they would have to adjust. But, she shares:
“We try not to be as afraid anymore. We’re just cautious, but you can’t live in fear of it. I watch them close if we’re at the gym and make sure they can tell me how they feel in case something sneaks up. When I’m exercising, I pace myself. It’s all about finding balance and not working your heart too hard. I can’t run like I used to, but I can stay active and really just enjoy life the best I can with it. Having knowledge is power.”
Sarah agrees, noting that a healthy lifestyle and annual checkups are just part of their lives now.
Outside of symptom management, Jessica and Sarah are both involved in advocacy and support through groups like the Hypertrophic Cardiomyopathy Association and support groups at the local HCM treatment center. Says Sarah:
“Any form of change is tough and a diagnosis is a big change. I felt like I was too young and too healthy. Being around others who had already gone through this journey really gave me peace of mind.”
Jessica adds:
“I think putting together resources, like support groups or treatment information, that could be given to patients at the time of diagnosis would be really beneficial. It’s hard to navigate through a diagnosis. Managing HCM isn’t just about managing the physical symptoms, but the mental health struggles. Having support has been incredibly important in helping us on this path.”
Could It Be HCM
Could It Be HCM is an initiative from Bristol Myers Squibb that aims to increase awareness about HCM, spread information on symptoms, and provide necessary resources to people in need. Jessica and Sarah joined the campaign because it was both personally and communally important. As Jessica explains:
“HCM is something that you don’t hear about a lot. So many people are undiagnosed. I found community on the Internet and I want to offer that to someone. I want people to know that you can have a good life with HCM.”
For Sarah, her motivations for joining Could It Be HCM involve raising awareness that a rare condition like HCM can occur in younger individuals. She has been posting across her social media platforms and finds it meaningful to encourage people to learn more about HCM.
Joining this campaign has also been incredibly rewarding for Sarah and Jessica, allowing them to strengthen their bond and bring the entire family together. Says Jessica:
“It has been a blessing to advocate with my daughter. Through this journey, we have taken something that really shook us up and we’ve been able to use our experience for something positive. At the end of the day, that makes me really happy.”
Learn more about the Could It Be HCM campaign here.
