From Friesland to Grand Rapids
United by Heritage, United Against PLN
PLN-R14del is a heartbreaking disease that can be life-threatening. Symptoms such as cardiac arrhythmias, heart failure, and, in extreme cases, sudden cardiac death can manifest without warning.
Because PLN-R14del is a rare disease, many people are still unaware they carry the mutation. This means there are people walking around with a ticking time bomb in their chests.
That’s why awareness and early detection of PLN-R14del are vital. This saves lives. Our mission as the PLN Foundation is to find a safe treatment for the disease so that lives and families are no longer devastated by it.
Grand Rapids' Key Rol in Our Journey
One of our volunteers at the Dutch foundation was looking for ways to raise more awareness for PLN worldwide. Her search led her to Grand Rapids: a city in America with highly engaged residents and distinct Dutch roots. More specifically, Frisian roots, as many Dutch people from around the world have emigrated to this city over the years.
They built their lives in Grand Rapids, possibly unaware that they carry a life-threatening heart muscle disease. Research shows that the PLN mutation originated on the eastern side of Friesland. Many people from this region of Friesland have emigrated to Grand Rapids, resulting in a higher risk of PLN carriers in this region.
There are currently 1,750 known carriers of the mutation in the Netherlands, but it is suspected that there could be as many as 15,000. We believe this is only the tip of the iceberg and that there are many more families carrying this terrible mutation worldwide.
That’s why the PLN Foundation is focusing on raising awareness in Grand Rapids, encouraging early detection and raising awareness about PLN. We hope to work with you, your highly committed residents and business owners, to realize a safe and affordable treatment for PLN-R14del.
The Touching Story of PLN-R14del
Many carriers live with an invisible burden. The PLN mutation isn’t visible, but it’s always present. This can place a significant physical and mental burden on a person’s life. Watch the stories of PLN carriers and the explanation of PLN.
What is PLN-R14del exactly?
PLN, or phospholamban, is a protein that contributes to heart function. A mutation (a change in the DNA) in the PLN gene that codes for this protein causes the production of a incorrect protein. As DNA is double stranded (one side from the father and one side of the mother) 50% of the correct and 50% of the incorrect protein is produced. This can affect the functioning of the heart muscle.
The PLN mutation is scientifically referred to as PLN-R14del because the fourteenth amino acid, arginine, is missing at position 14 of the phospholamban protein. PLN-R14del is hereditary. There is a 50% chance that you will pass the mutation on to your child(ren).
When the effect of the PLN mutation occurs, symptoms such as heart rhythm disturbances, chest pain, and shortness of breath can develop. In extreme situations, the PLN mutation can even lead to sudden death. The development of symptoms is not a given. There are also carriers who have tested positive for the PLN mutation but do not have symptoms but the risk of developing them during their life is more than 50%. This makes the disease uncertain and unpredictable.
This is our Chairman: Pieter Glijnis
Imagine you’re on a business trip in Singapore. The world is at your feet; it feels like you can walk on water. You’ve previously experienced some rumbling around your heart, which prompted a preventative ICD. You’re not too worried about it, until one night in Singapore, you suddenly feel unwell. You walk to the bathroom, touch the sink, and feel an electric shock.
But it doesn’t stop there. That night, you’ll experience shocks no fewer than 40 times, as your heart is defibrillated. Your heart experiences arrhythmias and is kept going thanks to the ICD. In one night, your life changes completely. You go from a renowned businessman to a sick patient whose life can only be saved with a heart transplant.
After seven years of illness, Pieter Glijnis received news that he was eligible for a heart transplant. He received the greatest gift he could receive: another person’s heart. After his recovery, he decided to choose a life with a clear mission: finding an affordable treatment for PLN-R14del.
What Does the PLN Foundation Do?
The PLN Foundation was founded in 2012. Since then, the foundation has grown into a very strong and pioneering player in science. Few patient organizations play such a leading role in scientific research into a disease.
We collaborate with leading scientists worldwide and a treatment for PLN-R14del is on the horizon. But we’re not there yet. Over the next 10 years, we’ll focus on testing various treatments and bringing them to patients. To achieve this, we have the ambitious goal of raising more than 1 million USD every year for the next 10 years.
What Can You Do?
You can help us achieve our goal. We’re focusing on Grand Rapids for a reason. That reason is twofold: firstly, we want to find as many PLN carriers in Grand Rapids as possible, and secondly, we hope to raise as much money as possible with you to finance treatment.
Join Us
It’s incredibly important to join us in our fight against PLN-R14del. There are various ways to do so. If you are touched by our story, but don’t know what to do exactly, we love to get in touch to find ways together.
Early Detection
Do you have heart problems yourself or do you have a family history of heart problems? We work very closely with the DCM Foundation that offers free genetic testing. It’s important to detect PLN early on, because it can (temporarily) alleviate the symptoms of the disease.
Visibility For PLN
Do you know of ways to raise awareness for the PLN Foundation in Grand Rapids? We’d love to hear from you about collaborating. We’re happy to contribute to interviews, articles, and video productions. We have many people involved to share their expertise about science or their own story.
Donations
Donating is very important. 100% of our donations are used for scientific research. This also means nothing is wasted. Donations are possible through creditcard, PayPal and bank transfers. Get in touch with us to discuss the best donation options for you.
Get in Touch With the PLN Foundation
We’re thrilled to collaborate and raise awareness of PLN-R14del in Grand Rapids. You can help us by spreading the word or donating to the PLN Foundation. Marise, Strategy & Policy Coordinator, would be happy to discuss the possibilities with you. If you fill in this form, she will get back to you within 1-2 business days. Let’s get together to fight this disease for good!