By: Naeem, Parent of Jacob, a 13 year old with a 16p11.2 deletion
What is your child’s relationship like with his/her siblings?
They get along great. They are best friends. Emily always helps Jacob and they have a great time together.
What does your family do for fun?
We travel a great deal. Every year we go somewhere. We’ve done trips to England, France, Italy, Costa Rica, and all over Canada and the US. We ski, cycle, hike, canoe. We also enjoy time at the cottage. Also we all play several instruments.
Tell us about the biggest hardship your family faces.
I am a single dad raising two kids. I’d be lying if I said it was easy. Especially with a son who is on the spectrum. Its a constant battle ensure helping him overcome the challenges. Nevertheless, we persist and persevere till the challenges are overcome. There is always that perception by educators and those around you who don’t believe he will overcome the challenges. My son has and does overcome them.
What about your child puts a smile on your face?
A few things: He is actually very funny. He has a great heart. He works hard to make me proud. I love that smile when he does great on a test or assignment. He comes out of the school running to me with this glow. The pride is so pronounced.
What motivates you to participate in research?
I am an optimist. I believe in my son. Doctors, psychologists, educators all said he wouldn’t keep up academically but he has. He has friends, (although his social skills are currently weak and behind) his speech has improved dramatically, he cognitive skills have jumped 3 grade levels (last year). He hasn’t been tested this year but feel there is another jump. I’d love to understand the neuro. psychological dynamic that is allowing this. I’m not an expert but believe in neuro plasticity. I really believe that the brain can overcome the challenges . The approach to reduce expectations at school is wrong. The opposite is required teach them more, increase expectations… add a second language, music, ramp up the math, art classes, read and read and read. Audiobooks, to me reading books on history, biographies, etc. My son at 12 now reads Hemingway, Salinger, etc. His reading scores went from grade 3 when in grade 5 to grade 11 in grade 8.
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 believe my son started with some serious issues. He had Pyloric Stenosis at 1 month. Then didn’t talk for many years. He overcame many of the challenges. I think his experience and the approach I took with him might help others.
What have you learned about your child’s condition from other families?
I’ve learned that they all share common learning challenges, and many have GI issues.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
What is one question you wish researchers could answer about your child’s genetic change?
What is the cause of the deletion? My sons is de novo. When do they develop it? Why are some children’s symptoms more severe or less severe?