I’ve lived my whole life with HCM although I wasn’t diagnosed until I was 24. My story of Hypertrophic Cardiomyopathy began with my mother and stories of how three of her brothers had died suddenly of cardiac arrest. Two within only a few months of each other. I also knew that her mother had died of cardiac arrest when my mom was only 18.
My mother also had HCM, but she just seemed normal to me. I don’t ever remember her being “sickly.” She was simply “Mom,” fun and energetic. It wasn’t until I was grown and diagnosed with HCM myself that I realized the other side of HCM. The side that allows those affected to feel absolutely wonderful one moment and then to be so exhausted that you feel as though you want to melt into the floor the next. Being healthy and physically able only to have a chest cold or the flu turn into something far more serious as your lungs fill with fluid that your body can’t get rid of.
I was followed in Boston yearly until I was 18. At that point, I was told that my heart was perfectly healthy and that I had been spared the condition that had taken so many lives in my family. That, of course, was before genetic testing was possible. Several years later I would participate in a study through Baylor University that would pinpoint the gene that my family carried. It took another 4 years for me to be diagnosed and only after I began having problems with dizziness and fainting that led me to the doctor.
My first few years with HCM were marked with memorable energy swings as my medical team tried to find the most appropriate therapeutic balance in my medications and I tried to get comfortable with my inconsistent physical limitations. There was also the emotional roller coaster ride of understanding just how active I could be without needing a 2 hour respite on the couch, and coming to terms with how and when to tell people about my condition. During this time my doctor also told me I should give up on any plans to have children as not only could they be compromised by HCM, but that my life could be put at risk during the pregnancy and birth.
I’m now 47 and actually the oldest member of my extended family to have HCM. All others have either died or been transplanted.
I have two children, ages 10 and 13. Both are gene positive, one is phenotype negative. My daughter was only 7 days old when I received the call that her heart was already significantly thickened or as the doctor put it “Chunky.”
At the age of six my daughter had open heart surgery called a myectomy to help correct the obstruction her thickened septum was causing and to fix a prolapsed valve leaflet. Her surgery was a success but her "chunky" heart will never stop it's abnormal growth. The myectomy could correct but not cure the condition. Both of my children are still followed at Boston Children’s, just as I was. So far, my son, at 13 remains free of any symptoms.
So, in one small family we have seen HCM in 3 separate forms. I’ve followed the most common path, having been diagnosed when I was in my 20’s. My son may be following the same. We hope he isn’t. We hope that he remains free of the condition and simply carries the gene. My daughter follows a path that can be far scarier. Having been diagnosed at birth and having had significant thickening, she is the most likely of any of us to need a heart transplant. She would be the 8th in my family to get one. And although we know from experience that a new heart can mean a new life, the fear of her getting sick enough to need one is a fear we live with every day.
Yet, fear is not what drives me, for I am living a wonderful life and my daughter has only basic limitations. I can do most of what I want to do, although I dream of being able to dance the night away like I could when I was a teen and walk up a hill without getting winded. I’ve been very fortunate to have a doctor who is also a researcher and therefore is able to prescribe me medications that work well and keep me feeling good.
To me this heart condition is like flying a kite. I know I have to keep a constant hold on the line. I need to look up now and then to make sure it’s flying well. I need to be in touch with its physical properties and adjust the line tension as the wind changes. I know, too, that my control is not infinite and it could plummet to the ground at any time. I also know that I can’t only look up or I’ll miss the world in front of me and lose sight of the beauty that surrounds me. In some ways, having HCM has heightened my appreciation and forced me to take stock in the many gifts I've been given.
Passion to help find a cure is what pushes me forward and keeps me welcoming each new day with hope. For I know that research is the only way to find the answers to the many questions HCM poses. And although research takes time, if the right questions are asked the answers can't be far behind.
Update: In December of 2015 my son was diagnosed with HCM. Thankfully, he's adjusted to his diagnosis well and currently has no restrictions. Three weeks after his diagnosis my daughter suffered a commotio cordis cardiac arrest after a strike to the chest. Miraculously her heart returned to normal rhythm on it's own but she continues to be watched closely.