Faye’s Story

By: Andrea, Parent of Faye, an 8 year old with an ASXL3 genetic change

“Join a group be it social media or other and just find out that you are not alone and just remember special children come to special people and families.”

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

Faye knows and loves them but on her terms and interacts when she wants. She is mostly happy and active. Faye likes to sit alongside her siblings and do what they do but in Faye’s own way.

Faye, her brother Adam, and sister Emma

What does your family do for fun?

We all go to a lot of ice and ball Hockey as Faye’s brother Adam plays. We like outdoors and Faye’s in her element in water.

Faye’s grandparents

Tell us about the biggest hardship your family faces.

The understanding why Faye and wanting to know what she thinks and feels. My son once said if Faye only says one thing I want it to be “I love you” as he loves her and wants to know she loves him too. Her little sister Emma wants to know why Faye has a special brain and does it make her more special than her. This is due to the phrase special needs and a 5 year olds understanding of this.

What about your child puts a smile on your face?

Everything. She laughs and smiles (often at the wrong times) but she loves to watch people and gets excited. I am most proud of her ability at 8 years old to independently be able to do 1000 piece jigsaws.

Faye and her older sister, Laurenne

What motivates you to participate in research?

I want to know more. I want others to learn more and know what we can do to help Faye. We have special children whose conditions need to be explored and if we don’t partake then how will we ever know more.

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)?

Just helping add to the research or giving others the opportunity to learn more too.

Faye and her sister, Emma

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

I have not met another family but have joined the Bainbridge Ropers Syndrome Facebook group which is wonderful to see all of the children. From this and reading I have learned that Faye’s love of water is a quality of children with BRS. I think in water Faye has an increased sense of feeling on par with others. She swims with arm bands and can join in the fun and the buoyancy in the water I think helps Faye physically as well.

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

Join a group be it social media or other and just find out that you are not alone and just remember special children come to special people and families.

Faye’s mother, Andrea

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

Will Faye ever talk? Will I ever hear the sound of her voice in words? Will she ever call for me as her Mummy?

Faye’s sister, Emma

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

Faye is amazing and captivates people’s attention. She is bright and understand what you are saying so do not assume that absent speech means absent understanding as it so does not!