Anonymous Story #4

By: the parent of a 17 year old with a rare genetic change

“Get all the help and support you can”

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


What does your family do for fun?


Tell us about the biggest hardship your family faces.

Worrying about our son’s future

What about your child puts a smile on your face?

His sense of humor and honesty

What motivates you to participate in research?

To know more

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

Common Symptoms

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

Get all the help and support you can

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

Future problems

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

He has bladder issues