“PLN is still very unknown. My own family doctor didn’t even know what it was.” Annette has the hereditary heart muscle disease PLN. In people with this disease, severe cardiac arrhythmias can occur.
“I think it’s important that people know about PLN,” Annette says. “In the Netherlands there are currently a thousand known patients with a mutation in the PLN gene. Especially in Friesland and North Holland it occurs. There must be many more families who do not know they are carriers of the gene. The gene is 50% transmissible. A heredity test can reveal this. I myself come from a family of four, three of whom have it. My sister’s children also both have it. Thanks to the test, we can avoid serious consequences for them.”
“PLN usually does not manifest until middle age, but I have also heard examples of young people falling down on the soccer field, while jogging or just at the table. Playing intense sports is not good if you have this disease. My cousin wanted to be a professional boxer. He knew he was gene carrier, yet he continued to play sports. Then you trigger the disease somehow, doctors don’t quite know how yet. That left him with serious consequences, including an ICD (a device that intervenes in dangerous cardiac arrhythmias) and heavy medication. My father once skated the Elfstedentocht and at seventy-five had no problems at all with his heart, despite the disease. So that’s possible too, very bizarre.”
“I myself had an active life until the age of forty-five with a good job, I was president of the golf association and always very sporty. Until I was riding my bike in 2007 and my heart gave out for a moment. I received an ICD. Many patients develop heart failure within ten years of a heart attack. Then, like me, you end up with an emergency device like a support heart. As a bridge to a heart transplant. That can take up to five years; there are few suitable donor hearts available each year. Unfortunately, it’s a nasty disease. If you get tested, you can get ahead of such serious consequences.”
“If people have heart disease in the family, combined with Frisian ancestry, they should be extra vigilant. So look at your family history and get a heredity test done. Many people don’t do that for fear of the consequences. I can understand that, because if your children are diagnosed at 15, it has consequences for the rest of their lives. But if you get tested, the doctors can at least start medication at an early age, which can get ahead of serious forms. Through the PLN foundation, I know many mothers who have had their children tested. Despite the diagnosis, they are so happy about it, they really feel that their child is being watched closely. If you don’t get tested and you know these things run in your family, there is always a sword of Damocles hanging over your head.”
“In December 2017, I received a donor heart at UMC Utrecht. That was totally unexpected. I was functioning pretty well with my support heart, wasn’t sick from it. The thing just got in the way. Not ideal, but manageable. You just have to accept that such a thing is there to save your life. Until in the middle of the night the phone rang. “How soon can you be here? The next morning I was driven to the operating room for a heart transplant. I was in the hospital until mid-January. In the weeks after surgery, I was always afraid of an arrhythmia. Then I thought with relief, “I have another heart, so that won’t happen again. I’m doing very well now. The only thing I struggle with is my condition. That has completely disappeared. I am so incredibly grateful for the donor heart. It has done a lot with me, including my family and friends. Something like that gives hope and perspective.”
“Sports are really the common thread in my life. As a child I did gymnastics, handball, horseback riding. I love long stretches of walking or cycling. And the sport of golf, which you play with a stick and a ball. Like billiards or golf, it involves concentration and good aiming. I think it’s the most beautiful sport there is, a combination of sociability along the side and rivalry in the lane. I was president of the golf association and became Dutch champion once. With support heart it was difficult, because of the batteries and the bag on the back. Then I wasn’t able to perform well, but the sport helped me rehabilitate. Now I am slowly starting again. My goal is to become a champion again. As a symbol of my recovery and new life. I hope everyone reading this gets tested, to prevent serious consequences like mine. That way your children can have a future again. In any sport.”
