By: Angela, Parent of Andrik, a 5 year old with a CTBP1 genetic change
“The brain is a powerful thing, positive thinking and encouragement will take you and your family further in a happy life together.”
What does your family do for fun?
Travel, biking, fishing, animal parks, horseback riding. reading books.
Tell us about the biggest hardship your family faces.
Andrik is getting bigger and it is becoming more difficult to help him move from A to B. Seeing that he wants to do things alone and him not being able to, is the hardest.
What about your child puts a smile on your face?
Andrik is the most optimist child I have ever met. He is always happy and always wants to try. His smile makes me smile.
What motivates you to participate in research?
The more we share what we know the better off this world will be.
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 that my son can add another level of information about the different spectrums of his diagnosis.
What have you learned about your child’s condition from other families?
I have learned that his diagnosis is not regressive. That all the therapies I have him participate in are helping and that his level of cognitive progression will continue.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
The brain is a powerful thing, positive thinking and encouragement will take you and your family further in a happy life together.
What is one question you wish researchers could answer about your child’s genetic change?
What is the highest level of developed gross and fine motor skills? Has a child with CTBP1 ever walked?
Is there anything else you would like to share with other families?
Out of the four cases in the study for CTBP1 all of the children needed tube feeding. My son doesn’t. We give him high calorie/ protein drink supplements (3xs a day) to compensate for additional nutrition intake.