Isla’s Story

By: Sara, Parent of Isla, a 9 year old with a MBD5 genetic change

“Take one day at a time, be proactive with therapy, you can encourage but can’t rush progress.”

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

Isla’s older sisters are carers, therapists and keep things real!

What does your family do for fun?

We go on bush walks, trips to the beach, the playground, the mall and out for meals.

Tell us about the biggest hardship your family faces.

We tend to live a separate life with Isla and our other girls. We are there to support our older girls with sporting events for example but Isla would not cope with most activities for too long. We can’t be that spontaneous and always need to prepared when going out.

What about your child puts a smile on your face?

Her outlook on the world and her way with words makes us smile each day. Seeing her accomplish new things or participate in activities that are hard for her brings us lots of happiness.

What motivates you to participate in research?

So other families in the future will have more knowledge and know what therapies may help.

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)?

MBD5 is a relatively newly described gene change and there is a growing community of those affected. Our children are all different but share common traits due to MBD5.

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

EVERYTHING! More than any specialist, doctor, neurologist.

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

Take one day at a time, be proactive with therapy, you can encourage but can’t rush progress, join support groups.

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

How it affects the brain and therapies that will help.