By: Krista, Parent of Dylan, a 22 year old with a TRIP12 genetic change
“…take it slow one day at a time and take deep breaths.”
What is your child’s relationship like with his/her siblings?
My boys are 8 years apart and due to the autism related symptoms and a significant communication barrier it’s been a constant struggle to forge a strong bond between the two of them. Regardless of those barriers they are true brothers. The oldest is very protective and supportive of his younger brother.
What does your family do for fun?
We love to explore and visit new places as much as possible . Colorado has a lot to offer and it’s never ending .
Tell us about the biggest hardship your family faces.
It sometimes feels like we are starting over everyday to accomplish even the smallest tasks. This has created some significant gaps in our social, personal and community related identities.
What about your child puts a smile on your face?
Everything. He’s just filled with pure joy. He’s quite a jokester and is a delight to be near.
What motivates you to participate in research?
I want to be a part of giving back to anyone who needs our knowledge, experiences and strengths in this area. Also it gives us a place to belong. A path, finally that has a destination . And more importantly a beginning point. A lot of the symptoms related to our son with TRIP12 have made our world very isolated. The sensory issues have been so extreme that going anywhere with more than a few people indoors was impossible until just a few years ago.. just knowing there’s a common understanding of how this gene malfunction affects everyone in a family affected by it would be nice. I feel like getting involved could provide much needed support and understanding for us as much as we could do the same for other families. Learning as much as possible to help further research is important for future breakthroughs in navigating this for future generations as well.
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’m not sure yet. This is very new. But my own personal experience over the past few weeks since we found out is the data that we know about the others involved has provided some comfort for us as a family as far as what’s gonna happen in the future or what could happen so that’s a good thing. As far as the rest of it goes I am not at all sure yet about the scientific part of it and what it will provide as far as information we give I mean really it’s just statistical data being gathered about each individual and then compile to see what they have in common I’m not sure how that helps scientifically but it definitely helps me emotionally and to feel a little bit more confident about the future which is very important.
What have you learned about your child’s condition from other families?
I have not had a chance to interact with the other families yet. I just signed up for the Facebook groups and asked to become a member of the group. We have not been excepted yet it’s very new still I am looking forward to interacting with some of the families in providing them with information and also asking questions to get information.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
I would say that early intervention and therapies are key from very young age surrounding the intellectual disability. I would tell them to just take it slow one day at a time and take deep breaths. There were long periods of time where we didn’t see any results at all from our child as far as any type of interaction speaking independence I mean years went by at times. But now there have been significant successes in his independent abilities and I would say don’t give up. I would point out that in my experience with my son it was like dealing with the purest form of the human soul that cannot be corrupted changed or negotiated in anyway because it is so pure and beautiful.
Is there anything else you would like to share with other families?
Just that I am looking forward to learning about the experiences they face . I am open to any and all questions. My son is 22 so we have been through it.