David’s Story

By: Loli, Parent of David, a 15 year old with a PACS1 genetic change

“There are more people with this syndrome, and that via internet, Facebook, whatsaap group there is information and there are people willing to help us.“

What does your family do for fun?

Biking, Walking, Trecking.

Tell us about the biggest hardship your family faces.

His routine aggressive behavior, his immune status is low since he frequently has infections, his intellectual disability is low and he has to be helped in almost everything.

What motivates you to participate in research?

To obtain more information about PACS1 Syndrome.

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)?

It is very important; the discovery and the later study of the genetic alterations that in these last years are taking place, I personally begin to understand things that happen to my son.

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

We have shared feelings, we give our opinion about common experiences, we exchange information.

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

I would inform you that there are more people with this syndrome, and that via internet, Facebook, whatsaap group there is information and there are people willing to help us.

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

I would like to know how the PACS1 syndrome may affect you in the future. I really want to know how my son affects this syndrome: his cells, if there is a risk in the future of diabetes for example (he was born with hypothyroidism), when growing up with his bones (he seems to have a longer leg that the other) its low immunological status (recurrent infections and several allergies) if it is true that these children from adolescence can start to make a type of regression such as losing ability to walk, having episodes of epilepsy again.

Is there anything else you would like to share with other families?

Information and experience, since David is 15 years old and has been diagnosed recently and we did not understand many things but from knowing what syndrome he suffers we now understand many things that we have gone through.