By: Susan, Parent of Lucy, an 11 year old with an ADNP genetic change
“Don’t be upset. We are who we are. and nothing can change that.”
What is your child’s relationship like with his/her siblings?
They get on sometimes and sometimes not, like all siblings i think.
What does your family do for fun?
We love going away on summer holidays together. But at the moment Lucy has another rare bone disease called perthes disease. So at the moment we cant do these little trips.
Tell us about the biggest hardship your family faces.
My biggest hardship is the not knowing what will happen next. Lucy is the only child in Ireland who has this condition so there is no one else to talk to about whats going on. I haven’t heard from a doctor since she was diagnosed and when I was there last April they just said it was so new they new nothing about it. It’s just hard not knowing what is going to pop up. About two months after the ADNP syndrome diagnosis she got another rare diagnosis of perthes disease and they know nothing about that either. Because it is so rear and Lucy is at the worse age to get it. She is 11 years old. They just seem not to know what to do. It just seems with both conditions neither doctor knows much at all. Nothing of any help anyway.
What about your child puts a smile on your face?
When she is happy makes me smile. When she hugs me and tells me she loves me makes me smile. It really doesn’t take much for Lucy to be happy it can be the smallest thing like sharing a chocolate bar with her and she would beam from ear to ear.
What motivates you to participate in research?
So that I can find out about more information about Lucy conditions and hopefully more treatments and therapies.
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)?
Without studies like this we would be all left in limbo. We need all the people we can to help us figure out how to best help our children.
What have you learned about your child’s condition from other families?
I joined a Facebook group page for parents with Lucy’s conditions. Without this page, I’d be lost. It is one mother in America who started the page. It is the only place I have somewhere who knows what struggles we face daily. She has joined so many of us together.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Don’t be upset. We are who we are and nothing can change that.
What is one question you wish researchers could answer about your child’s genetic change?
Why did it happen?