By: Susan, Parent of Ava, a 7 year old with a 16p11.2 Deletion
“Reach out to the community that exists with this variation. It can be so overwhelming, and that community can really help during the hard times.”
What is your child’s relationship like with his/her siblings?
She has a very good relationship with her brother.
What does your family do for fun?
We like to camp, bike ride and travel. We also enjoy day trips and going on picnics, or having a back yard barbeque.
Tell us about the biggest hardship your family faces.
It has been difficult to access services that our daughter needs, and we have had to pay for many of these ourselves. It is also very stressful and hard on all of us to always be dealing with the unknown, and not sure if we are doing enough or the right things to help our daughter.
What about your child puts a smile on your face?
Our daughter is incredibly loving and outgoing. She has a wonderful strength of character that gives her a spark, and also has a gentle loving way to her that makes her special to us all.
What motivates you to participate in research?
We are always searching for information that may help our daughter, while also wanting to contribute in anyway to finding answers, and helping others that will be coming behind us.
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)?
We hope that we are one of many that will contribute information that when compiled, will help to come up with ways to best handle the challenges that 16p children face.
What have you learned about your child’s condition from other families?
I have relied on other families to share there stories in regards to what has worked, when the experts simply don’t know what we should do. For example, I reached out to the parent community regarding teaching our daughter how to read. I received great tips and suggestions from other parents. I also appreciated hearing that others are struggling with this as well.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Reach out to the community that exists with this variation. It can be so overwhelming, and that community can really help during the hard times.
What is one question you wish researchers could answer about your child’s genetic change?
This is such a hard question, because I never have just one question. I guess at this stage it would be around learning and academics. I wish I had more information about ways to best teach her, specifically the academics.
Is there anything else you would like to share with other families?
I am very thankful to Simons, and other families. It is so nice to know there are others out there that are facing similar challenges and also have many of the same questions.