By: Alessia, Parent of Carlotta, an 8 year old with a CTNNB1 genetic change
“I want you to know that your work not only helps our children with CTNNB1, but also helps the whole family, especially the “healthy” siblings who will have a duty to follow them for life. Thank you for everything you do and will be able to do.”
What is your child’s relationship like with his/her siblings?
What does your family do for fun?
We try to do everything, but many times Carolotta’s opposition attitude prevents us from doing it.
Tell us about the biggest hardship your family faces.
The greatest discomfort is not always being able to satisfy her because many times Carlotta has an opposition attitude and if she doesn’t get what she wants, she is a continuously crying and scratching whoever is next to her. Her intellectual disability always keeps us on alert no matter what we do because she is unpredictable and always risks being in danger. She sleeps without the help of drugs but not always deeply in a sort of awake sleep.
What about your child puts a smile on your face?
My daughter is a very cheerful little girl, and nothing makes her laugh. She’s happy whenever we do what she likes: rides, buy toys, go to the newsstand, go to the bookstore, buy food, go to a nice place…
What motivates you to participate in research?
Because Carlotta is a normal looking child in the sense that she is autonomous in the path, in her daily habits, she understands everything that is said to her but she always lacks the necessary little piece that can give her the autonomy that she needs to not always burden someone who must, at the moment, obligatorily be close to her. Because we believe in research and we hope we can find a remedy to make Carlotta live better that fully reflects the disease.
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 that research can help us to have guidelines on the disease that can be universally valid and that help operators (medical speech therapists, physiotherapists, teachers …) to better relate to our children in a profitable way without wasting time.
What have you learned about your child’s condition from other families?
I owe almost everything I know compared to other parents on Facebook. Our children are more or less all similar in both physical and intellectual characteristics. I’m talking about children with the only genetic mutation CTNNB1.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Certainly to work a lot on autonomies trying to understand what the real needs of the child are, speech therapy, physiotherapy, home autonomies / sc, ABA or other behavioral therapy, attention to eating, and most of all, never give up.
What is one question you wish researchers could answer about your child’s genetic change?
If our children lack b/catenin, how can we supplement it? Is it possible to repair the exome? What are the prospects from the research?
Is there anything else you would like to share with other families?
I want you to know that your work not only helps our children with CTNNB1, but also helps the whole family, especially the “healthy” siblings who will have a duty to follow them for life. Thank you for everything you do and will be able to do.