Christopher’s Story Living with a 16p11.2 Distal Deletion

Advocate, advocate, advocate! Also, do not be afraid to ask questions.

Lea, parent of Christopher, a 5-year-old with a 16p11.2 distal deletion

What is your family like?

Our family is a loving, active family. We enjoy spending time together and exploring new places.

What do you do for fun?

Two of our family’s favorite things to do are to play board games and have dance parties together. We also enjoy going to local festivals, going out to eat, and riding rides at a local theme park.

Christopher is a very happy kid who loves playing soccer and emergency vehicles, especially fire trucks! He enjoys family days and eating chocolate ice cream at his favorite ice cream shop.

Tell us about the biggest hardship you face.

Our biggest hardship is ensuring Christopher has access to the resources and support he needs to live his best life. We have been very fortunate and have access to many therapies and counselors through his school and our local area. Christopher has made great progress since beginning many different therapies and we hope the accessibility and affordability of these services continue as he gets older.

Also outside of therapies, it has been challenging to find inclusive places to go with Christopher. He does well adapting when he goes somewhere new but we have found many places do not have special accommodations for children with special needs. I believe better education on autism and special needs for businesses would help them to become more inclusive.

What motivates you to participate in research? 

We enjoy participating in research. Our hope is that our participation now will allow others in the future to have more answers and access to more resources.

Our participation from research has helped us to better understand Christopher’s disability and genetic condition. Access to the information and resources provided to us from research studies we have participated in have helped us to better help him navigate his world.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

Simons Searchlight has opened the door to a network of other people that have the same genetic change as Christopher. We have learned about other medical conditions to look out for as Christopher gets older as well as explanations for current medical conditions.

What is one question you wish researchers could answer about this genetic change?

I would like to know how the genetic change occurred and why.

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

We have learned that a successful, happy, bright future is possible for Christopher.

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

Advocate, advocate, advocate! Also, do not be afraid to ask questions.

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