Ella-Rose’s Story

By: Samantha, Parent of Ella-Rose, a 3 year old with a 16p11.2 Deletion

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

It can be quite hard as most of the time as she screams in frustration most of the time as she hits them quite a lot in anger so it’s world war 3 in our house most of the time

What does your family do for fun?

We try to go on days out but most of the time Ella get frustrated most of the time so it comes to a end.

Tell us about the biggest hardship your family faces.

Ella with her scream’s frustration, anger as she will hit her self and other’s around her as she dose not quite under stand situations and she dose not no danger and you have to watch her 24/7

What about your child puts a smile on your face?

It’s her big blue eyes and her smile she has got and when she achieves her big mile stones

What motivates you to participate in research?

Knowing what lies ahead in her future and when she is older for her to understand what she has

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)?

Well there is a lot more information and details about it on here more then what the doctors gave us as we were told she had 16p11.2 and was told to see a different consultant as she did not now much about it, we were not given any leaflets about it, so in here is a bit more understanding on it

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

Nothing yet as I am new to all this as it quite a lot to take in, but I will get around to doing it when I have 10 minutes

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

Go online and research and find company researchers that would help with your condition and give you advice and also look on Facebook as they may have support groups available for you

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

A cure, and supports groups available in our location on where people live.