Navigating Life with Koolen-de Vries Syndrome (KdVS)
My rare disease story began on the day I was born; August 26, 1997. For many years, my family and I went through life with one question: What is it that causes my difficulties? Every doctor I’d seen in the past didn’t have an explanation for what caused my low muscle tone, learning difficulties, seizures, and general delays; they called it dyspraxia. In my teens, out of nowhere, I started having problems with my right knee every step I took. It was very stressful because I would be walking perfectly fine and then the next thing you know, I would collapse. My knee would continue to give out, so my mom took me to an orthopedic doctor who noticed my kneecap didn’t look quite right, but it still did not seem to explain the collapse. This was a challenging time for me since I was trying to fit in with my peers, which became stressful. It resulted in the embarrassment of not being able to walk properly and caused mild anxiety.
I went through many months of physical therapy to strengthen it back up. The first thought that popped into my head was that I might not be able to walk normally again, but I never gave up. I kept pushing myself to overcome the obstacle that was before me with a lot of determination and courage. I overcame the obstacle and I was finally able to walk again. In addition to this great accomplishment, I was taught coping mechanisms for my anxiety which helped tremendously.
But my journey continued when, in the absence of a diagnosis for the knee problems from the orthopedic specialist, we were referred to a neurologist, who also was unable to find a physical cause for the knee problem. On examination, he noticed some physical differences that made him question my mom and me about genetic testing. When he learned that I had never had genetic testing done, he referred us to a geneticist at Munroe Meyer Institute in Omaha, Nebraska. After going through genetic testing, I was officially diagnosed with Koolen-de Vries Syndrome (KdVS) in 2014. KdVS is such a rare syndrome that the geneticist had only ever heard of it, but had never actually seen a patient with it. Though the diagnosis didn’t change many of the therapies I received or the learning difficulties, it was the answer to our prayers. We finally had an explanation for the challenges I went through when I was little. My mom and I felt a sense of relief because it gave us new insight into what the future could potentially hold. It was the confirmation we needed and gave me the answers I needed.
The diagnosis was only the beginning of our journey. After learning about KdVS, my mom and dad did some research to learn more about it and in that process, we found a support group on Facebook of others going through the same experience. After connecting with others in the community, we decided to go to our first KdVS gathering in the summer of 2015. It took place in Asheville, North Carolina and it was amazing! We met so many families that have kids and adults with the same genetic disorder as me. I finally felt part of a community where I could connect with others who understand what I am going through. I felt a sense of acceptance since we shared a similar life experience with KdVS. I was even able to meet the doctors who discovered my genetic disorder. I can say that 2017 was a great year in my life.
Although I live with KdVS, it has given me a strength of persistence by overcoming the challenges of the condition. I know this condition doesn’t define me and it’s great knowing that whenever I go out in our community, people take the time to say hello and talk to me. It means the world to me that I know I have so many friends that care about me. In addition to my friends and family, I would like to give thanks to my Lord and Savior for all of the blessings he has given me and for being with me every step all of the way as I go through life.
Ethan Deremer is a 23-year-old young adult living with KdVS. He lives in a small town in Nebraska where he works at Fareway Grocery store. Ethan is thankful for his brother Evan who was instrumental in helping him get the job. Ethan’s very dear friend Branden who also worked at Fareway was his mentor. In his spare time, you can find him playing with his Chocolate Lab Rebel or driving his RC cars. He is also an avid Texas Longhorn’s fan, but don’t tell a Nebraska Husker fan that! You can follow Ethan on Facebook @EthanDeremer.