By: Cindy, Parent of Celina, an 11 year old with a 16p11.2 duplication
“Don’t give up. No matter how hard the path becomes, no matter how many stones you have in the way, together you can create everything.”
What does your family do for fun?
We love nature, go for walks and practice walking independently with Celina. In summer we have a lot of fun in the pool.
Tell us about the biggest hardship your family faces.
Not knowing what the duplication and the other syndromes are doing to Celina. Where will the road lead us? Sometimes I cry quietly because I’m angry, desperate and helpless and can’t help this charming little girl. I hold her hand and wish that I don’t have to suffer so much… she does not have to be sad and I am always at her side.
What about your child puts a smile on your face?
Celina loves horses and loves to ride on her therapy horse “Elli”. She likes music very much and dances like a little dance queen – absolutely sweet.
What motivates you to participate in research?
We would like to know more about the duplication 16p11.2. Learn more about it. And above all, we want to make it better known. It must not be forgotten.
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)?
Celina’s diagnoses don’t match according to human genetics. The corpus callosum agenesis does not duplicate and the epilepsy neither. We hope that there will be more causes. We would like to make the duplication 16p11.2 better known. Hardly anyone knows this genetic defect and the doctors don’t know much about it.
What have you learned about your child’s condition from other families?
I myself suffer from underweight and have been searching for a cause for years. After more than 30 years, I was able to tell my doctor that duplication was the cause. Nobody wanted to believe me. The suspicion of bulimia was always expressed. I am happy to be able to share fears and concerns with others.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
That he will see life from a different angle and that he will go a very special way. He can be proud and happy to go that way. His focus will be on little things that he learns to appreciate. Not the big whole is important – the small special will warm his heart.
What is one question you wish researchers could answer about your child’s genetic change?
Why can a small genetic defect cause so much “damage”?
Is there anything else you would like to share with other families?
Don’t give up. No matter how hard the path becomes, no matter how many stones you have in the way, together you can create everything. Don’t let a small genetic defect destroy something great – your family. After bad times, good times come again. The bad times will show you that they can strengthen and consolidate your path. Cohesion = Strength = Love https://www.celinaseinzigartigerlebensweg.de/