By: Jeanine, parent of Maddox, an 8 year old with a 16p11.2 Duplication
“…we’re all united in our drive and determination to understand the 16th chromosome and the complexities, and our children and ourselves better that have the genetic disorder.”
What is your child’s relationship like with his/her siblings?
There’s a 4.5 year age gap between them so they annoy each other like typical siblings. Yet they’re fiercely protective of each other and their connection is strong.
What does your family do for fun?
We love hockey so we spend a lot time from fall to spring in hockey arenas; cheering on our favorite hockey player-our oldest son.
Tell us about the biggest hardship your family faces.
The biggest hardship is working with our youngest son and preparing him for transitions that he finds difficult. It ends up making his older brother feel upset and neglected as his little brothers complex needs require more of attention.
What about your child puts a smile on your face?
What puts a smile on my face about my youngest son is how loving, supportive, and funny he is. His sense of humor is stellar.
What motivates you to participate in research?
What motivates me to be a parent partner in research is giving mine and my family’s lived experience meaning and to help other families on a similar journey.
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 feel that mine and my youngest son’s lived experience is making an impact by being involved in genetic research.
What have you learned about your child’s condition from other families?
I’ve learned that we’re not alone and 16p11.2 duplication/deletion affects individuals differently. Yet we’re all united in our drive and determination to understand the 16th chromosome and the complexities, and our children and ourselves better that have the genetic disorder.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
One piece of advice would be to breathe, follow up with your genetic counselling, and research. Also get yourself involved in genetic research studies as it help resolve any feelings of remorse and guilt from hearing the diagnosis.
What is one question you wish researchers could answer about your child’s genetic change?
One thing I wish researchers knew is that 16p11.2 (Duplication) is not a static disorder. My son has grown, matured, and made phenomenal progress in his gross, fine, motor skills since his diagnosis.
Is there anything else you would like to share with other families?
I’m a freelance writer and I advocate for 16th chromosome, autism, and rare disease awareness. I can be found on my blog https://jsackblog.wordpress.com