Suus’ Story

By: Fleur, Parent of Suus, a 5 year old with an SLC6A1 genetic change

“We hope we can help to create a clear picture about SLC6A1.”

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

Suus is our youngest daughter. She is very fond of her sister Lieve and brother Duuk. She often asks both of them for help to participate as much as possible in all kinds of activities. Suus likes to cuddle, sing, socializing and likes to play outside.

What does your family do for fun?

We love walking together, watching Duuk’s football and Lieve’s handball. We live outside, which gives us a lot of space to play outside. We love socializing with friends.

Tell us about the biggest hardship your family faces.

Suus’ SLC6A1 has a significant impact on our family life. Her overall developmental delay means that we always have to provide proximity and guide Suus in her daily life. Sometimes it is very difficult, also because we don’t know what the future will bring.

What about your child puts a smile on your face?

Suus is a cute girl. She can be very sweet and has very beautiful brown eyes. She loves to cuddle both her dogs (cuddly toys in bed).

What motivates you to participate in research?

To create a better future for Suus and for many other children. Let’s hope for a cure for SLC6A1.

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)?

We try to deliver as much as knowledge as possible about Suus medical situation and also about her development. We hope we can help to create a clear picture about SLC6A1.

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

That there are a lot of similar conditions between our children. It is nice to hear about these characteristics and to learn tips and tricks from other parents.

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

Try to begin as early as possible with support at motor development, speech and language development and stimulation of cognitive development. It really helped Suus big time. We started at four months and we are proud about what she has reached at this moment.

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

Is there a significant difference between boys and girls for SLC6A1?