By: Claudia, Parent of Matthew, a 3 year old with a 16p11.2 Deletion
“It’s okay to feel sad at first. Finding out at first we went to somewhat of a mourning period and that was very hard. But it gets better.”
What is your child’s relationship like with his/her siblings?
Our kids are pretty close Emily is non 16P and the oldest they are 13 months apart. Matthew and Emily like to play together a lot and although they can fight like cats and dogs they love each other and she helps a lot when hes trying to communicate and we cant understand him too well.
What does your family do for fun?
We enjoy getting together with family and getting the kids together with their cousins. (There’s a lot of kids in our family under 10 years)
Tell us about the biggest hardship your family faces.
Its hard to go to any kind of event that has too much going on like crowds and lots of noise. Matthew is 3 (almost 4) and he won’t cover his ears or anything but he gets really anxious and wont stop moving when there’s too much going on. He is also a runner so certain places can be very stressful for safety reasons since his speech is very delayed. One other struggle is having my daughter that is neuro-typical and acting out because she feels that the attention that he gets is unfair not just from us but from therapists like OT,PT, and SLP. She doesn’t really understand at this age why he needs the extra help for things. Its been a struggle to balance things between them.
What about your child puts a smile on your face?
He is so loving towards everyone he meets and despite verbal speech limitations he makes friends everywhere he goes.
What motivates you to participate in research?
We want to always be up to date on research concerning his deletion and want to be part of something that helps kids in the future with his condition. get information out there so that others can get early intervention treatments and be part of a community that truly understands some of our daily struggles.
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)?
Shaping information for the future generations of 16p kids and adults.
What have you learned about your child’s condition from other families?
That every child is unique with how they develop and learn with or without 16p. We’ve learned about kids just like him and have been able to get a more accurate possible glimpse of what to expect as he grows up. We have also learned about resources that are available to us that we didn’t know about previously.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
It’s okay to feel sad at first. Finding out at first we went to somewhat of a mourning period and that was very hard. But it gets better. Your child will teach you how to appreciate so much more in this life. Everything might not always be perfectly perfect. But it will all be okay and you CAN do this!
What is one question you wish researchers could answer about your child’s genetic change?
What exactly caused the genetic change in a child that is de novo.
Is there anything else you would like to share with other families?
This Simons Study is the best of the best! If you are feeling alone search “16p11.2 deletion/ duplication We are family xx” on Facebook its an amazing group of families of all ages coming together to share their experiences with 16p11.2 deletion and duplication.