January 27, 2023
Koolen-de Vries Syndrome, KDVS, is a rare genetic condition associated with developmental delays and health concerns. Patients require several doctors and ongoing tests, but being a rare, relatively “new” syndrome, there isn’t much research to help families. Therefore, it’s more important than ever for families to connect, share information and support one another.
To raise awareness, Cox worked with families of children with KDVS to film “Not Alone”, a story about families living with KDVS. Get to know Lily and Joe, the kids behind the story, in this Q&A.
Meet Lily
11 years old
Diagnosed at 22 months
How would you describe yourself in three words?
I am amazing. I am caring. I am friendly.
What do you want to be when you grow up?
I want to be a teacher just because I want to help kids learn. And I also want to work at a restaurant where I can get a lot of cake and candy.
What’s it like to live with KDVS?
It makes me special.
What is school like for you?
Good. My favorite is rotations—PE, Instrumental and Spanish. I play the xylophone. And I love sports. Soccer is my favorite. I never want to miss school because I love to be with my friends.
How do you use technology to help you?
I have a touch screen [laptop] for school. I use voice-to-text. I use a calendar on my [laptop]. I love to read books on my computer. And most of all, I love to use my [tablet] to write messages to my friends.
We hear you have friends from the KDVS Foundation. What does it mean to you to have friends who also have KDVS?
I like to talk to Joe, Katie, Marissa, Alyssa, Mirabel, Sam and Daniel. We love to have birthday calls. And we sing Happy Birthday! My big-girl friends can teach me things.
How often do you see these friends in person? How do you keep in touch with them?
Most of my friends live far away so we talk on [video chat]. But some friends live in Chicago and we go there to visit a lot because that’s where I was born! Joe is my best buddy and our families all really like to see each other. Joe likes my brothers a lot.
Just last week, though, we got to meet a new Koolen-de Vries friend who was just recently diagnosed. He lives about a half hour away. He’s only 2. I was the first KDVS friend that he’s ever met.
What’s your favorite thing to do with them?
Play soccer, go swimming, ride bikes and go sledding. I just love to be with friends!
What do you want other people to know about living with KDVS?
I can do anything if I try!
Meet Joe
14 years old
Diagnosed at 18 months
How would you describe yourself in three words?
I am friendly, happy and great!
What do you want to be when you grow up?
I want to be a bus driver.
Do you ever get asked about your condition? How do you describe it?
My doctors and teachers talk to me about having Koolen-de Vries Syndrome. It makes me very special.
What’s it like to live with KDVS?
I like having KDVS! I’m proud of me! I am good with remembering people and places and things that happen. I have to go to a lot of doctor appointments—my doctors and nurses are my friends, too, so I like seeing them. I don’t like having surgeries or getting blood draws or getting sick. Some things are hard for me with KDVS.
What is school like for you?
I love going to school because I get to see all of my friends in the Buddies Club and I get to ride the bus. Some things are hard for me at school, but my teachers help me find ways to help me. I love high school because there are more people to meet every day.
How do you use technology to help you?
I have a hard time hearing and I use an app to do live captioning in my class. I read what the teacher says on my device. I type my answers on a keyboard when it is too difficult to say them and send them to my teachers. I use the internet to send my teacher pictures for my weekend update. I take photography class and my teacher taught me to use the computer to make my pictures better.
We hear you have friends from the KDVS Foundation. What does it mean to you to have friends who also have KDVS? How has it changed things for you?
I like having friends with KDVS. It makes me feel proud and special and happy when I see them. I have always had friends with KDVS. I notice that my friends are like me and have hearing aids and scoliosis braces and remember a lot of names of people too.
How often do you see these friends in person? How do you keep in touch with them?
I do [video calls] with my friends. I like to record videos and pictures and send them to my KDVS friends like Lily, Ella and Sam. When a KDVS friend sends me a video, I watch it over and over a lot. I see them sometimes in person at the gatherings. I sometimes visit my friends where I live.
What’s your favorite thing to do with them?
When I see my friends in person, I like to play on the [tablet] together. I listen to music and do karaoke with them. We had a talent show at the gathering and I liked that very much.
What do you want other people to know about living with KDVS?
It is very nice to have KDVS. I like it very much.
If you're interested in getting involved and supporting the KDVS community, visit KDVSfoundation.org/donate for local opportunities to make an impact.
