What is your family like?

We are adventurous introverts: a family of mom, dad, three boys, 2 dogs, and a cat. We love the company of each other but carefully schedule events within the community during low-traffic days and times to have a more relaxing experience. This arrangement allows us to have the lowest sensory experience for our family.

What do you do for fun?

We love camping, hiking, water parks, and playing games together at home. We enjoy building hideouts within our own home and having family movie nights.

Tell us about the biggest hardship you face.

Handling the general public’s judgements and sometimes hurtful comments towards our son’s neurodiverse behaviors. When he flapped his arms and made joyous noises after seeing an airplane flying overhead, a community member sneered and asked, “what’s wrong with him?”

Our son is nonverbal outside the home yet can appear neurotypical at a glance, so every outing requires some explanation to a stranger that he cannot answer questions.

What motivates you to participate in research? 

We want to provide more information to future families with the diagnosis. Participating in research has been fun for all our boys. We got a real case of the giggles when submitting a urine sample.

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

We love participating and are happy to contribute to science.

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

How does the deletion hinder expressive language?

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

We have connected with many families online and recognize that many of us experience medical issues not yet in the literature like accelerated tooth decay and weakened immune system.

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

The age of 1-2.5 was the hardest for us. Our son’s self-harming actions were at their highest, and he could not communicate. I highly recommend implementing sign language with children with this diagnosis. Our child picked up signing quicker than we could teach it. As soon as he could communicate through sign he stopped harming himself.