By: Kristen, Parent of Oliver, a 1 year old with a CTNNB1 genetic change
“We need to work together and push for answers. These kids deserve the best life we can give them!”
What does your family do for fun?
We love to go hiking, swimming, cultural activities, and hang out with our family!
Tell us about the biggest hardship your family faces.
Not getting enough strategies to help our son’s physical needs. We believe there are alternative solutions to help children who have mixed muscle tone.
What about your child puts a smile on your face?
He has the best personality! He is so fun and smart!
What motivates you to participate in research?
Our son was diagnosed with mild CP in April 2018 at 13 months. We went for a second opinion, and they are not sure if it is CP. We were just diagnosed with an abnormal CTNNB1 gene which we are going to Dr. Zadeh at CHOC in Orange, CA for further guidance. I believe there are many children who are misdiagnosed with CP, and there is an opportunity to provide help for all of these kids. Additionally, I have been reading about alternative therapies for children, and I am wondering if there is more we can do for our kids.
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 believe there are many more kids who have this but are undiagnosed based on the cost of the test. Many children on the parent website have children with both CP and CTNNB1. I believe if we could would with CP researchers, make a connection, and perhaps come up with alternative therapies that will make the science community listen.
What have you learned about your child’s condition from other families?
I feel the parents know more than the doctors. I see there are a varying level of skills. Our son cognitively I believe is fine. He is a bit behind in speech, but does talk and totally understands what we are saying. He is 18 months old and can identify 9 body parts. I had his eyes checked in August, and they said they are totally fine. I don’t feel he fits in the total mold. I think what parents have been told are very biased because the children who have been tested are from higher socioeconomic class I imagine which would distort the studies. Additionally, how can an abnormal gene affect hair color? If the parents are blonde, the kid is blonde, then that just makes sense? Also, my kid has lots of hair.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Push for more studies and demand more answers from doctors.
What is one question you wish researchers could answer about your child’s genetic change?
I will support a study in any way that I can. I am going to be writing the UCP organization because I have a contact with the president. I think if we could get their backing with the connection to CP, we could get more money. I think there HAS to be a way to heal the gene or invest in strategies to changes these kids lives.
Is there anything else you would like to share with other families?
We need to work together and push for answers. These kids deserve the best life we can give them!