16p11.2 Deletion Story #2

By: The parent of a 9 month old with a 16p11.2 Deletion

“It is not bad news. It is a journey.”

What is your child’s relationship like with his/her siblings?

Our daughter is 5 years younger than her brother but she absolutely adores him! He is one person that I can always count on to make her smile. She will crawl her way around the house just to follow him.

What does your family do for fun?

Our family enjoys being outdoors, camping, walks with the family dog, and most importantly being together. We like to be busy so we do a lot of traveling within the area and across Wisconsin to see family and friends.

Tell us about the biggest hardship your family faces.

I believe the biggest hardship we have at this time is not getting enough family time together. My fiance and I work opposite shifts. He spends time with the children while I work first shift and I have them while he works second. He literally drops the kids off at my work when I get out then he’s off to his work. I don’t believe her condition has caused any hardships. We were told by a great Neurologist that her condition is not “bad news” it is a journey. Life is a journey and we always try to stay optimistic about our journey together.

What about your child puts a smile on your face?

Their smiles when they look at me. It is the absolute best heartwarming feeling. It never fails to put a smile on my face, or anyone else’s.

What motivates you to participate in research?

I am really excited to learn more about these conditions and what conclusions will be drawn up. I was most motivated by the thought of helping others when their journey begins down the same road.

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 feel each of us that are voluntarily participating in this research have a common goal of wanting a better understanding of the conditions and what we can do to help others. I think each participant is valuable, unique in their own way, which gives variation yet some commonality within the study.

What have you learned about your child’s condition from other families?

I have yet to speak with other families, but I am excited to do so!

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

The same advice I was given, “It is not bad news. It is a journey.”

What is one question you wish researchers could answer about your child’s genetic change?

Being that my daughter is still under one year old, I wish I knew what to expect in the future. I would like to prepare myself and guard myself and my family with the best tools to help her succeed.