Ellie’s Story

By: Fleur, Parent of Ellie, a 17 year old with a PACS1 genetic change

“You will feel as though you are on a giant roller coaster, you will have good days, and days where you wonder if you will ever cope again. But you will. “

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

Ellie has a ‘typical’ teenage love/hate relationship with her brother who is 14 years old.

What does your family do for fun?

Harry and his Dad love to go on fishing trips together. Ellie enjoys meeting her Granny with myself and going to costa coffee for a hot chocolate, Ellie also likes visiting zoos and farms.

Tell us about the biggest hardship your family faces.

We can’t go anywhere without military planning, symbols, photographs, wheelchair, change of clothes. The older Ellie gets the more I am reminded of what ‘should have been’.

What about your child puts a smile on your face?

She has the most infectious laugh, it’s pure innocence. Ellie loves life and sees the joy in going out every day, even if it’s just to her favorite supermarket. She has an amazing sense of humor and uses this to her best ability to get out of tasks she doesn’t want to do!!!!

What motivates you to participate in research?

I wish I had the support of others with the same condition when Ellie was a baby, I don’t want others to feel on their own, therefore if our experiences can help anyone get that initial diagnosis early on I will be happy.

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)?

That’s a hard question!! I hope we are helping in the understanding of this gene change, I know my daughter is one of the eldest in this research.

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

They all have the best smile ever. It’s a wide spectrum, some are verbal, some not so, some are very physically able, some not so.

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 panic, google the name of the genetic change and see if you can connect with other families who have the same change. Remember your child hasn’t changed at all, he/she is still the same gorgeous little person they were before the diagnosis.

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

Why did it happen?

Is there anything else you would like to share with other families?

You will feel as though you are on a giant roller coaster, you will have good days, and days where you wonder if you will ever cope again. But you will. Look after yourself, connect with others, laugh, take time out to breath in the fresh air, and enjoy the miracle that is all yours.