By: Donna, Parent of James, an 8 year old with a 16p11.2 duplication
“Now we know he CAN grow out of them WITH THE PROPER SUPPORT, and he’ll always be affected by autism, but we can put supports into place so he can succeed. And YOU can too!”
What is your child’s relationship like with his/her siblings?
Loving, since James is a very sweet, uber loving kind of guy. However, he’s 8, and his little sister is 3 and she has trouble following the black and white rules that James sets forth. There is a lot of grey area for her, and not so much for him. Rules he would be expected to follow at 8, he doesn’t understand why his 3 year old sister doesn’t have the ability to follow. They can be as simple as rules of manners that he knows to be proper, that she wouldn’t possibly know at 3, to keeping shoes off the furniture, to chores and how they’re completed. To the outsider, this looks a lot like relentless pestering between each other, more so than regular sister/brother pestering. With his older step sibling who is 17, he practices a lot of attachment anxiety, but adores her.
What does your family do for fun?
Movies, church activities, James takes MMA classes 4 days a week, and we play online video games as a family together. We love video games anyway, but playing together helps us to meet him where he is at.
Tell us about the biggest hardship your family faces.
James’s social misunderstanding is a big problem. We pushed learning language as early as 6 months and so, by the time he was a year he had an extensive vocabulary, so that when the 18-36 month sensory regression happened, afterwards he is able to communicate very well. Also we pushed things like eye contact very early, not knowing that he had autism. However, his social problems at school are extensive as well as at home. To adults, he looks like a sweet, quirky 8 year old boy. But the kids, they know he is different. Only a little. He arm flaps when excited and gets attached easily to adults and to anyone who will show him attention, frequently misunderstands things that are said sarcastically as literal. Social misunderstanding is the biggest problem we face today.
What about your child puts a smile on your face?
In making my list of quirks that I thought made him autistic, I realized that these were all the things that I loved about my son. The uber sweetness of him in general. There isn’t a mean bone on his body!
What motivates you to participate in research?
I would do anything that can help others 10-20 years from now to learn more about these genetic anomalies and not have to deal with the lack of information that we have been faced with since our diagnosis.
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)?
Seeing as James is able to communicate so well, given his problems and explain his very complex brain (he thinks in pictures like temple grandin talks about in her movie and in her book Thinking in Pictures) and he’s high functioning, so his ability to bring you into his world is really amazing and I feel like he could be invaluable in helping the neurotypical community to understand autistic people! I hope to participate in any that will have us. James is on board as well. I think speaking to him could be amazing because there really is no barrier to understanding his mind.
What have you learned about your child’s condition from other families?
The community mothers are amazing. Almost every other mother has been helpful. I’ve connected with a few on a personal level and compared and contrasted our children with the same or similar changes. I’ve been able to learn from what they have signed up for. Like I learned about unique from one mother, and unique sent me to Simons Searchlight and a plethora of other places. I’m beginning to compile an excel sheet of contacts for myself and to help other mothers like me!
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Join unique, see a geneticist and don’t worry! I went through a lot of grieving for a month or so. Kind of mourning the future my son would never have. We regarded him as a normal boy with quirks he would grow out of. Now we know he CAN, grow out of them WITH THE PROPER SUPPORT, and he’ll always be affected by autism, but we can put supports into place so he can succeed. And YOU can too!
What is one question you wish researchers could answer about your child’s genetic change?
I don’t have a question, because I’m able to communicate so well with my son. However, I know that is a HUGE gift within the autistic community. But what I have learned about how his brain works and what he is able to understand and how quickly and effortlessly he is able to learn could be beneficial to other mothers with children with autism! I do wish there were more options to treat the genetic disorder rather than the symptoms of it. ie: James has autism, but that is only a very small part of his abnormality.
Is there anything else you would like to share with other families?
Unique and Simons Searchlight are amazing, but there are a LOT of sites willing to help you! If you’d like help from me specifically please feel free to contact me at firstname.lastname@example.org