Poppy’s Story
(Image: Poppy at age 12)
By: Kerryn, parent of Poppy who has a CTNNB1 genetic variant
“We live and breathe it every day so I’m grateful we can share this information to research to learn more.”
What is your family like?
We have a 23 year old girl, Poppy (who is) 12, and her brother (who is) 11.
What do you do for fun?
We love to go to our shack in summer and spend family time swimming, walking on the beach, and spending time with extended family. We also go camping in winter, sports, and having family get togethers.
Tell us about the biggest hardship you face.
When Poppy was the age of 5-7 years old we struggled with her aggressive behavior due to medications and we just couldn’t go anywhere because of Poppy’s unpredictable behavior.
What motivates you to participate in research? How has participating research been helpful for you?
I feel the more parents that participate, researchers are given more insight to the functions of our children. Science today has come along in leaps and bounds I feel our children have way more opportunities than any born say 20 years ago.
How do you feel you are helping Simons Searchlight learn more about rare genetic variants?
Giving them an ” in house ” look at what life is actually like for our children and families . We live and breathe it every day so I’m grateful we can share this information to research to learn more.
What is one question you wish researchers could answer about this genetic variant?
How the genetic change occurred when two parents are healthy and have no abnormalities?
What have you learned about your or your child’s genetic condition from other families?
Without the Facebook page I’m pretty sure I would have many unanswered questions. It’s nice to connect with other parents who have the same as us and we can ask some questions we really can’t ask our friends, because they just don’t understand unfortunately.
If you could give one piece of advice to someone recently diagnosed with this genetic variant, what would it be?
I have found having Poppy in our family has given her siblings and those close around us patience, consideration, love, understanding and respect. All of these things out weigh the hard times we go through and there is light at the end of the tunnel!