By: the parent of Jasey, a 10 year old with a PACS1 genetic change
“It is Such a relief to be able to connect with other parents that totally understand where you are coming from.”
What does your family do for fun?
In the summer, we spend a lot of time at the pool.
Tell us about the biggest hardship your family faces.
We are very blessed with extended family that helps us with her when needed, but our biggest struggle is toilet training. It feels like we are constantly taking 1 step forward and 3 steps back.
What about your child puts a smile on your face?
She loves people. She cares for people and is always wanting people to be happy. She is always smiling. Her smile is so contagious. Everyone loves being around her and we are told all the time, they can’t explain it, but she just makes me smile.
What motivates you to participate in research?
When Jasey was diagnosed, she was the first female in the world, 3rd overall case in the world, and 1st person in the US. Just in a few short years, we have grown in number to 60 families. With such a quick growth, we are going to increase in numbers quickly. We know God has a bigger purpose for Jasey than we could ever imagine; but if we can help families find answers they have been searching for, then I feel like she is living out that purpose.
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)?
Being as transparent as possible about Jasey. I love sharing about her and will willingly share about her when asked.
What have you learned about your child’s condition from other families?
The PACS1 Facebook group and the meet and greet has been so important to our family. We can pose a question and either another family is going through the same thing or has already travelled that path. Such a relief to be able to connect with other parents that totally understand where you are coming from.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Connect with the PACS1 family Facebook group, attend as many meet and greets as possible, and early intervention and therapies are key.
What is one question you wish researchers could answer about your child’s genetic change?
What does her future look like?