By: Amy, Parent of Lorna, a 19 year old with a DYRK1A genetic change
“Just take it one day at a time, hear from families about the varying ways it affect their children but remember it is a range and your child may be affected at a different level.”
What is your child’s relationship like with his/her siblings?
Lorna (19) is the oldest of our 3 children. Her brother, Jadon is four years younger than her and tends to be a protector and makes sure she isn’t wondering when we are out and about. Her sister, Cloey is 8 years younger than her and tends to be a helper. She likes to help with her homework and help her take a shower. They do have a normal sibling relationship of getting on each other nerves too.
What does your family do for fun?
We like to spend time outside on our property that is located on Lorna Ln. We walk through our woods on trails, Jadon’s Way. We spend time roasting over the camp fire at our private camp, Camp Cloey. We swim in our pond, Payton’s Pond and hangout in our playhouse, Logan’s Light house.
Tell us about the biggest hardship your family faces.
One of our biggest challenges is Lorna’s difficulties with people and her strict view on what category people are in relating to stranger and friend.
What about your child puts a smile on your face?
Her great memory and how she shows us just how smart she by adding to certain conversations.
What motivates you to participate in research?
Adding to the knowledge that medical science can use to better understand conditions and ways to treat them.
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 think we are impacting it a little as is anyone else participating. The more that participate the better the understanding can be. So I can have more impact by sharing my experience with participating in hopes of getting others to do the same.
What have you learned about your child’s condition from other families?
I learned that seizures are more prevalent than I thought and how lucky we have been in that area. I learned there are many things in common between the children affected.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Just take it one day at a time, hear from families about the varying ways it affect their children but remember it is a range and your child may be affected at a different level.
What is one question you wish researchers could answer about your child’s genetic change?
The lack of appetite and how a past medical article could provide clues on ways to help that part of the condition. The article was a study on affected mice and how neuropeptide could play a roll in it.
Is there anything else you would like to share with other families?
Your not alone!