Jordan’s Story

By: Marla, Parent of Jordan, an 18 year old with a rare genetic change

“Please don’t worry about the label your gene change, you have a child that is going to be diagnosed with many different things, and you need to take each diagnosis and do your best to treat it. With all of the things that our kids are plagued with that make up our kid’s diagnosis, you need to tackle each one as it appears”

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

The typical love hate sibling relationship. My older son watches or parents his younger brother

What does your family do for fun?

Spend time together is always fun. We don’t have to be doing anything to laugh.

Tell us about the biggest hardship your family faces.

Money for all of the health problems that have inflicted us. The not knowing what is next regarding health

What about your child puts a smile on your face?

He is happy and seems oblivious to all of the things that he has had to face

What motivates you to participate in research?

To help my son as much as possible and future parents to have an easier time than I did

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 hope a lot!

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

Not a ton. We were diagnosed early so what I learned is that I am not alone or crazy

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

Please don’t worry about the label your gene change, you have a child that is going to be diagnosed with many different things, and you need to take each diagnosis and do your best to treat it. With all of the things that our kids are plagued with that make up our kid’s diagnosis, you need to tackle each one as it appears

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

What can we expect for the future?

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

Please accept your child and don’t worry so much about the diagnosis work with each individual diagnosis as they come.