This is a tale that I never imagined I would be telling. A tale that involves both of my children being diagnosed with restrictive cardiomyopathy, and both needing heart transplants within three years of each other.
It all started when my daughter, Katie, was 13 years old. She had been having trouble with physical exertion, especially in gym class, and had a difficult time catching her breath, along with dizziness and nausea. We scheduled her for a routine checkup and told her doctor about her symptoms. At the appointment, her primary care doctor said that she should be evaluated by a cardiologist, sooner rather than later.
We went to a pediatric cardiologist in Louisville, KY, then to the closest pediatric specialists to our home in southern Indiana. The doctors there ran many tests on her, the last being a heart catheterization. As they scheduled test after test, I knew something was very wrong. They eventually diagnosed her with restrictive cardiomyopathy and advised us to go to Cincinnati Children’s to speak to their heart transplant team. And they wanted us there within two days.
Avoiding Sudden Cardiac Arrest and Heart Failure
Upon arrival we learned very quickly from their team of heart failure specialists that she would need a transplant because the type of cardiomyopathy she has is progressive, meaning that her heart will continue to deteriorate until she goes into heart failure. While she waited for a heart transplant, they wanted her to have an implantable cardioverter defibrillator or ICD (a battery-powered device that will deliver a shock to her heart if it detects any irregularities) to keep her safe from a possible sudden cardiac arrest.
She had surgery the very next day. She went from having difficulty breathing during exercise to being diagnosed with restrictive cardiomyopathy to receiving an implantable defibrillator and being listed on the heart transplant waiting list – all within three days. It was a lot to take in.
While she waited for a donor heart, the cardiomyopathy team at Cincinnati Children’s recommended genetic testing on Katie, my husband, and me. They were unable to find the gene in my husband or me that they believe caused her condition, so they determined that hers was likely a kind of random mutation.
Katie Receives a Donor Heart
She eventually received a heart transplant on July 6, 2014. Like any major surgery or life event, it was difficult on the whole family, but particularly on my son, Ben, who was 13 years old at the time. While he and Katie are your typical siblings, he said it was hard watching his sister go through it all – and I concurred.
While we had some ups and downs along the way, Katie is doing well now. She’s a senior in high school and is a typical teenager – participating in school clubs, sports, and 4-H.
Which leads me to Ben.
I’ll never forget the day I received a call from school saying that Ben had collapsed. It was May 7, 2015. Katie had just returned to school in January and I thought things might finally return to some normalcy.
Ben, 14 years old at the time, collapsed from sudden cardiac arrest. Thankfully, his heart rhythm was restored by the school nurse with an AED (automated external defibrillator). He was taken to our local hospital and then flown to the closest children’s hospital – the same one that diagnosed Katie’s restrictive cardiomyopathy.
Coincidentally, the same cardiologist that evaluated Katie’s heart catheterization also did Ben’s, which was fortunate. He said that their hearts looked very similar. He received his own ICD while there. Once again, we made the trip back to Cincinnati Children’s for further evaluation.
Another Diagnosis of Cardiomyopathy and More Genetic Testing
We were there within a few days and everything was feeling all too familiar and surreal. I couldn’t believe we were here again, doing the same thing, with another child, and another diagnosis of restrictive cardiomyopathy to boot.
After further analysis with genetics, they discovered that Katie and Ben have the exact same gene mutation. And here’s where it got especially complex. They did a lot of explaining, and we asked a lot questions and did our own researching.
Katie and Ben share an inherited mutation in their somatic (body) cells, most likely arising from germ line mosaicism. This means either my husband or I have the mutation in the germ (reproductive) cells but not our somatic cells. This mutation does not show up on blood testing of the person with germ line mosaicism, which is why our testing was negative.
While Katie and Ben have the same diagnosis, their presentation and symptoms were very different. Looking back, Katie had visual and physical signs. Ben did not. He was very active and involved in sports, even competing in a track meet the week before the SCA.
Ben is Listed for Heart Transplant
Ben was listed for transplant much later following diagnosis because, even after recovering from SCA, his heart was in better shape initially than Katie’s. However, his condition started to deteriorate far quicker than hers. He was listed for transplant in March 2016 and was hospitalized three months later because he was short of breath and dizzy, even when he wasn’t doing anything. That was a really scary time for us.
My kids reversed roles and Katie said that she would go through everything all over again if it meant Ben didn’t have to. My broken heart swelled with both pride and sadness.
Our New Normal
Ben received his donor heart on July 2, 2016 and so far, is doing well. We know that we will continue to have follow up appointments, medications and all kinds of tests, but we’re looking forward to settling into our new normal.
Because we’ve been through this before, I do think we will be better prepared and will know what to expect, at least better than we did before. I know that situations will arise when I will need help – and this time around I won’t hesitate to ask for it.
It never occurred to me that I could be in a situation where both of my children would need a heart transplant, and I wouldn’t wish this situation on anyone else. But at the same time, I believe our family is stronger because of it. Our tale of two heart transplants also includes a whole lot of love for each other.
Ben and Katie, they have each other’s backs. And always will.