Finding (or Building) Your Rare Disease Community
When you or your child receives a rare diagnosis, it can be one of the most isolating experiences in the world. As special needs parents, it is already hard enough to find people who truly understand what our daily lives look like. But when your child's condition is so rare that even doctors have to Google it? That is a uniquely heavy kind of lonely.
Connecting with other families going through the exact same thing is a lifeline, but finding those people isn't always easy.
When we first received Josh’s genetic results, the geneticist didn’t even call it Jansen de Vries Syndrome (JdVS). She simply told us he had a PPM1D-related genetic mutation, and at the time, it didn't even have an official name. After hours of desperate late-night research, I finally found a small Facebook group with about 60 other caregivers whose children had the exact same disorder. Reading their posts—seeing my son's unique quirks and struggles reflected in other children across the world—was nothing short of amazing. I finally felt like I could breathe.
But what happens if you search your child's genetic marker and find... nothing?
Not everyone gets the relief of finding a pre-existing group of 60 families. If you find yourself in this situation, holding a piece of paper with a genetic code and feeling entirely alone, I want to encourage you to do something brave: Build the community yourself.
If you are feeling this desperate need for connection, I promise you, someone else out there is searching for it, too. Here is how you can help them find you:
Start Simple: You don't need a fancy website right away. Create a public Facebook group or an Instagram page dedicated to your child's journey.
Use the Medical Keywords: When parents get a rare diagnosis, they type exactly what is on their medical paperwork into Google. Name your page or blog using the specific gene mutation (like PPM1D), the chromosome deletion, or the scientific terms the doctors gave you. This acts as a beacon for other parents searching the web.
Share Your Story: Write about the early signs, the diagnostic process, and the day-to-day realities. You don't have to be an expert; you just have to be honest.
Hold the Space: At first, it might just be you. But one day, a parent sitting in a geneticist's office is going to search that rare gene name, and your page will pop up.
You don't need to have all the answers to start a community. You just need to be the person who turns the porch light on so others know where to go. By sharing your family's story, you not only find your people—you ensure that the next family diagnosed never has to feel alone.