By: Rebecca, Parent of Child Felix, a 3 year old with a 16p11.2 microdeletion
“The path of your child’s development isn’t going to be clear or straight or easy. One of my favorite authors said, “Not all who wander are lost,” it’s the road your child is paving for themselves. The road has lots of detours but after a while, you really start to appreciate it the journey for what it is. You’ll be a better parent and person for being there for them.”
What is your child’s relationship like with his/her siblings?
He’s a good big brother. Felix is beginning to understand his role as an example for his younger sister. He’s gentle but generally still prefers to play alone. And his sister respects his space; I think she understands his sensory needs better than anyone.
What does your family do for fun?
Taking nature walks, participating in the Special Olympics Young Athletes Program, spending time with family, and going to the arcade.
Tell us about the biggest hardship your family faces.
Understanding our son and his needs. Felix can not communicate well, and his needs – from sensory to dietary – are difficult to understand. He’s like an intricate jigsaw puzzle. Slowly, we’re putting the pieces together to get an idea of who he is and how we can best help him.
What about your child puts a smile on your face?
His little quirks – his love of all things train and car and as one therapist put it “his interest in everyday patterns”. He gets so excited for these things, and we like to see him happy.
What motivates you to participate in research?
Gaining a better understanding of our son, to benefit future participants, and to benefit genetic studies in general.
How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?
By allowing our family to be followed by the study, we’re hoping that the data will help doctors figure out what’s causing changes to our children’s genome and possibly develop drug or other therapies to assist. Personally, we aren’t looking for a cure. We accept Felix for who he is, but for others more profoundly affected or who suffer, they deserve answers and options. We hope that by participating, we are helping with those things.
What have you learned about your child’s condition from other families?
We’ve learned two really important things: 1) No 16p kid looks the same, so we need to be patient and allow our son to come into his own. 2) Relates back to patience. Nothing comes fast to 16p kids. They open up like little flowers. Petal by petal they reveal themselves and to pushing them to go at anything but their own pace doesn’t work. Persistent presence is what they need, and in time they show you exactly what they need. What’s nice is that the other parents offer their experiences and it helps to slow us down and enjoy our son’s progress.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
The path of your child’s development isn’t going to be clear or straight or easy. One of my favorite authors said, “Not all who wander are lost,” it’s the road your child is paving for themselves. The road has lots of detours but after a while, you really start to appreciate it the journey for what it is. You’ll be a better parent and person for being there for them.
What is one question you wish researchers could answer about your child’s genetic change?
I don’t have one. If you asked me when we first joined the study, I would have asked, “Was it my fault?” “Why did this happen?” “How did this happen?” “Will my son be okay?” Being in the study helped either me answer these questions or be okay not knowing.
Is there anything else you would like to share with other families?
The Simons community along with the other Facebook groups have been huge helps to us. Seek them out and you will be welcome to ask questions, vent, or just make friends with people who understand you and don’t ask questions you’re tired of answering. And find time for yourself and do an activity and re-energizes you. It’s hard when the kids are young, but do what you can and I promise it’s worth it!