The Talbotts’ Journey With 1q21.1 Duplication Syndrome

What is your family like?

We have a large family. I have 5 children, 3 of whom have the duplication.

What do you do for fun?

We play outside, go on vacation, parks, swimming, etc.

Tell us about the biggest hardship you face.

Having three children with the duplication and being unsure about what the future holds because of the lack of information about the duplication.

What impacts your to participate or not to participate in research? How has participating in research been helpful for you?

I have not found any research studies for the duplication yet, if I did I would definitely be willing to participate.

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

What does the future hold for children and adults with the duplication?

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

I have learned there is many complications that can be present from the duplication.

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

Hang in there, search for groups with others experiencing the same.

How has Simons Searchlight served as a resource for you and your family?

I have just found Simons Searchlight!