By: Geneva, Parent of Zane, a 3 year old with a distal 16p11.2 duplication
“Keep your chin up, the unknown maybe scary but with faith and the help of this wonderful group you can get through it.”
What is your child’s relationship like with his/her siblings?
Like most brotherly love they have arguments over toys, but they all look up to each other and help each other out.
What does your family do for fun?
We take walks around our neighborhood as well as playing and enjoying each others attention.
Tell us about the biggest hardship your family faces.
The unknown of how things will end up with our youngest who has the distal duplication 16p11.2 defect
What about your child puts a smile on your face?
His smile, laugh and ways that he tries to play and pick simple toddler fights with everyone
What motivates you to participate in research?
To learn about the possibilities of what could happen with my son in the future, and ways to teach others that not everyone who looks normal on the outside is.
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)?
I believe that each child with the genetic changes show different issues if any at all, and that being in the study is giving more insight on what others can learn to watch for and have others to be able to connect with and learn from.
What have you learned about your child’s condition from other families?
Personally everything I have learned about my sons condition I have learned from the research you have already conducted, in return I have shared what I have learned with my sons dr’s and others who ask about him being so tiny.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Keep your chin up, the unknown maybe scary but with faith and the help of this wonderful group you can get through it. And always keep in mind that most children with the condition do grow up to be perfect adults living full wonderful filled lives.
What is one question you wish researchers could answer about your child’s genetic change?
In truth I don’t have any questions, I just want to take each day one step at a time and learn from my son while he learns from me and his brothers.
Is there anything else you would like to share with other families?
At this time I would only like to say if you ever have a question this group is very quick at getting back with you. They care a lot about our children and finding ways to educate not only us but others.