By: Jessica, Austin, a 5 year old with a 16p11.2 Duplication
“Keep a sense of humor and an open mind. Your special person is going to take you on a very special journey.”
What is your child’s relationship like with his/her siblings?
Austin has a twin brother Jack and they get on very well despite being very different characters. Jack supports Austin in everything he does. The twins have a younger sister Robyn aged 2. Austin has some problems understanding that his sister is only little and often fights with her or tries to avoid her. However,they have similar interests and I do catch them playing together nicely on the odd occasion!
What does your family do for fun?
We go to the park, the beach, soft play, have movie and takeaway nights. We like to have craft afternoons and dance and generally be silly together.
Tell us about the biggest hardship your family faces.
The biggest hardship is dealing with Austins increasingly challenging behavior. It can be difficult to know how to best respond to it and help him. This affects his siblings too. It becomes a matter of trial and error and if I get it wrong I feel terrible.
What about your child puts a smile on your face?
Austin has an off the wall sense of humor and always makes me laugh. He’s also very creative and loves to draw and make things. He likes to tell stories with his pictures. He’s very loving and is always asking for cuddles.
What motivates you to participate in research?
When Austin was diagnosed there was very little information out there apart from difficult to decipher medical papers which offer little or no comfort when you’re desperate for answers and some reassurance. There are a few more popping up now like this one and after my experience I feel a sense of duty to share our story in the hope it will answer some questions and give a bit of comfort to those newly diagnosed.
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)?
There’s so little known about some of these genetic changes that every case counts. The more people that participate and share their experiences the more chance the people affected have of getting the right support put in place.
What have you learned about your child’s condition from other families?
I haven’t met or spoken to any other families yet. Although I hope to.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Research, research, research but keep in mind that a diagnosis does not change who they are it just helps you understand why they are who they are.
What is one question you wish researchers could answer about your child’s genetic change?
I just want to know what tools I need to make sure he reaches his potential and has a good quality of life.
Is there anything else you would like to share with other families?
Keep a sense of humor and an open mind. Your special person is going to take you on a very special journey.