By: Stacie, Parent of Alyvia, an 11 year old with a 16p11.2 Deletion
“Don’t be afraid to get a second opinion but a diagnosis in hand usually seems to open the door to doctors trusting in your instinct.”
What is your child’s relationship like with his/her siblings?
Pretty normal. They like to pick on each other but also play together and love each other.
What does your family do for fun?
We like to go camping, swimming, and to the park. We like to cook and bake together. We also love just cuddling up on the couch and watching movies.
Tell us about the biggest hardship your family faces.
We have to travel to the specialists that Alyvia needs to see. Luckily our school system provides the therapies but most of her doctors are 5 hours away.
What about your child puts a smile on your face?
Her loving heart and her willingness to work hard so that she can be successful.
What motivates you to participate in research?
I want to learn everything that I can about 16p11.2 and I want to help other families learn too.
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)?
I think every little bit helps.
What have you learned about your child’s condition from other families?
I’ve learned that we share similar stories but still sometimes face our own challenges too.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
To gather lots of information and trust in yourself when you feel like something is not quite right with your child. Don’t be afraid to get a second opinion but a diagnosis in hand usually seems to open the door to doctors trusting in your instinct.
What is one question you wish researchers could answer about your child’s genetic change?
I would like to know what health challenges I should expect to face when Alyvia is an adult.
Is there anything else you would like to share with other families?
Even though Alyvia just had her 9th surgery, she is actually doing really well! School is going really well and behaviorally she is great.