By: Neil, Parent of Arianne, a 17 year old with a TBR1 genetic change
What is your child’s relationship like with his/her siblings?
Arianne is now 17, and doesn’t speak or walk, and is not toilet trained. Our older twin daughters are 22, and when home, they play with her and will help looking after her.
What does your family do for fun?
Arianne’s most developed trait is her sense of humor, particularly slapstick.
Tell us about the biggest hardship your family faces.
Physically, the 24/7 care required, and getting respite. Psychologically, comparisons with other children her age (effectively, what she could have been).
What about your child puts a smile on your face?
She will go into giggles with programs like Laurel & Hardy and Home Alone. She sometimes looks deep into your eyes, intensely, as if she knows what you’re thinking.
What motivates you to participate in research?
We have waited 17 years to get a diagnosis; previously she was grouped clinically as Angelman Syndrome.
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 hope its helpful.
What have you learned about your child’s condition from other families?
A lot previously from the Angelman groups, but nothing yet in relation to TBR1.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
The mutation is de novo, not hereditary. If they were as severely affected as Arianne, then advice would not be understood. All you can give is love and attention.
What is one question you wish researchers could answer about your child’s genetic change?
Could it be editable using CRISPR in future, and would it have to happen in the first 18 months to have any effect?
Is there anything else you would like to share with other families?
A lot. From what I’ve read so far, the spectrum of severity with the TBR1 mutation is very wide, depending on whether it is complete or partial. Arianne is a full deletion. It would be good to talk to others who have a TBR1 child.