Sometimes I catch myself wondering, “What if it happened to me?” What if I was the mother who was told that my child, my baby, only had a few short years to live? How would I react to the news, and how would our lives change? This is the story from the perspective of a survivor’s mother and her inspirational fight for the life of her son, Joe, who wasn’t born with a heart defect but developed one later in life.
In late spring of 7th grade, Joe was ready for summer football camp. His older brothers played and now it was his turn. All he had left to do was get a physical from his pediatrician and get an “all clear” to play. But when Joe’s pediatrician listened to his heart, he said something didn’t sound right. Beth pushed back a little, inquiring, “Can he still attend football camp? I’m sure he’s fine.” Joe’s doctor replied, “No, Beth. We have to figure this out.” Joe nor Beth knew it then, but in that moment, his pediatrician saved his life.
Joe’s doctors ordered an EKG and Echocardiogram at Wolfson’s Children’s Hospital, and Joe was instructed not to participate in any physical activity until the tests were completed the following day. Approximately an hour after the tests were done, the cardiologist from Wolfson’s called Beth and told her to immediately come back because they found a problem with Joe’s heart. It just so happened that on that day, all four of Beth and Ron’s kids were home, and they were all going to go out for dinner that night. So, the family went together, alongside their little brother and youngest son, figuring there was no big deal. As Beth looks back, she thinks it was Heaven sent that they were all together on that day.
The doctors put Joe on the treadmill for a stress test. Beth knew by the look on the doctor’s face that something was wrong. The doctor told the family that the results were “a life changer, a deal beaker.” Joe was diagnosed with Hypertrophic Obstructive Cardiomyopathy, and the family needed to have further genetic testing to see if anyone else was affected by this. The family sat in shock and silence. He continued on, telling them that Joe can’t play sports and can’t have children due to the probability of passing the trait on, maybe even needing a heart transplant to live.
Beth felt like she had been punched in the gut. How could her son have this happen to him? Beth started thinking back to times she pushed him to mow the lawn, and how he’d come back in red in the face, saying he was tired. She thought he was just being a lazy 14-year-old, but now worried she had pushed too hard and felt guilty. Still in shock, Beth was in full “Mommy Mode” and began her own research. She had a notebook and would make notes with questions she wanted answers to. Beth took time off of work to be with Joe and get him to as many doctors — and get as a many answers — as possible.
Then, Joe was diagnosed with Danon’s Disease. With this condition, there were no male survivors who haven’t had a heart transplant, and the average life expectancy was 16-19 years old. She reached out to other mothers with kids diagnosed with Danon’s Disease via Facebook groups and the American Heart Association for help. AHA was moving barriers for her and helped connect Joe with new doctors. Trying to find out more about his diagnosis, doctors did another test to confirm if Joe had Danon’s Disease, and it came back “of unknown significance.” So now what? Does he have it or not, and why is it coming back “of unknown significance,” instead of a surefire negative or positive?
So, they set out to do more testing. During a visit with a different doctor, they both had their blood taken to find out if they were carriers of Danon’s Disease. It would take up to six weeks for results, and Beth knew that if she was a carrier of the disease, then her daughter would have it, and she’d be a carrier as well. Beth called every week during that six weeks. Approximately six months later, she demanded a call from the president of the hospital. She was told repeatedly that labs were taking longer. Sadly, it turned out the blood work was still sitting in the office lab, eight months after they initially gave the blood. Let that sink in. I just love Beth even more for what she did next. Beth told that office that they are to trash that blood work and not use his or her blood for any testing. She didn’t want her son going to a doctor’s office that couldn’t handle submitting labs, but had no problem telling a teen boy he was going to die. Beth told that doctor, “YOU’RE FIRED.”
Beth then turned to the Cleveland Clinic in Ohio. They both had their blood work done for genetic testing to look at the certain strands of DNA affected by Danon’s Disease. The results showed that Beth had the exact same “of unknown significance” result as Joe, and there was a problem, but it wasn’t Danon’s Disease. This was great news, but Joe still had to deal with Hypertrophic Obstructive Cardiomyopathy — some nights his heart was beat as if he had just run 10 miles. Beth, Ron and their other three children rallied around Joe. The kids each left their jobs, their lives and moved back home to be with him while he continued high school. He had some collapses and would be taken to the hospital. During his junior year, he had emergency open-heart surgery and due to his Cardiomyopathy progressing, he had a Septal myectomy. It bought Joe time, but the time will eventually come where he may need a transplant.
Beth believes the American Heart Association helped Joe’s mental health more than anyone else could. Joe had direct communication with AHA so they could help him grow and tell his story to inspire others. Today, Joe attends college and works for the American Heart Association as my husband’s assistant for the year. Joe has been over to our house a few times, and my kids adore him. He kicks off Jump Rope for Heart at elementary schools around Jacksonville, implements a heart-healthy life style and is a true Heart Hero.
Beth continues to be an advocate for Joe and the AHA. During the one-and-a-half years Joe was misdiagnosed, Beth was in a living hell. Beth told me, “As a mother, it is terrifying. You don’t know what is going on. You need a ‘manager’ with something like this to help with what to do next. A new game plan for every wall you hit. You have to advocate for yourself and your child.” She says the American Heart Association kept her sane. And Joe’s involvement with them has given him the confidence and strength he needed. She has been an inspiration to me and a role model for strength, courage and a mother’s will to stop at nothing to be there for your children.
You can find out more about the American Heart Association at heart.org. Every year, the first Friday of February is National Wear Red Day. Wear red to show awareness for heart disease, the no. 1 killer of Americans, and donate to help continue the research, education and emergency care for the millions of Americans living with heart disease, stroke or a cardiovascular condition.
