By: Stacey, Parent of Calum, a 12 year old with a CHAMP1 genetic change
“Although this might be difficult to take in at the moment please take comfort that you’re not alone. This is a very rare condition but having the support of other families like yours is a blessing. I only wish I had the support group when my son was younger.”
What is your child’s relationship like with his/her siblings?
My boys fight like cat and dog! But when they’re being sweet they can be so kind to one another. My older son has the rare condition. His brother is seven years younger and doesn’t treat him any different. If anything having had our youngest I’ve seen my eldest son progress so much copying his little brother
What does your family do for fun?
My boys love listening to music. We have lots of Friday night fun after a busy week by listening to music and having fun with family.
Tell us about the biggest hardship your family faces.
The lack of understanding within society. As the years have gone by you grow a thicker skin and don’t let it bother you like it did. It is still difficult though when out and about and you’re stuck in the middle of a meltdown.
What about your child puts a smile on your face?
His determination to overcome things we didn’t think he could. Also he has the most infectious laugh you’ll ever hear.
What motivates you to participate in research?
We were undiagnosed for the first seven years. Now we know we are keen to find out as much as we can to give our son the best life possible. It will also help other families not have to go through what we have. Knowledge is power!
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)?
By having information gathered in a central repository it enables researchers the possibility of finding information in one place.
What have you learned about your child’s condition from other families?
Within our CHAMP1 support group we are all learning from each other. It’s such a fantastic support for everyone.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Although this might be difficult to take in at the moment please take comfort that you’re not alone. This is a very rare condition but having the support of other families like yours is a blessing. I only wish I had the support group when my son was younger.
What is one question you wish researchers could answer about your child’s genetic change?
If supplementing the gene could help my child’s condition.
Is there anything else you would like to share with other families?
My son is the happiest boy I know. He has overcome so much and continues to amaze us by progressing through life and doing things we never thought he would. He is non verbal however he is definitely the most loudest person I know. I wouldn’t change him for the world but I’d change the world for him.