By: Lena, Parent of Jadon, a child with a MED13L genetic change
“Stay patient and strong for your child. Never give up on him/her and do not allow him/her to give up on their self.”
What is your child’s relationship like with his/her siblings?
Acquaintance-like. His siblings are much older.
What does your family do for fun?
Family gatherings, movies, vacation
Tell us about the biggest hardship your family faces.
We need resources for my child with MED13L. We are from a relatively small town with limited resources regarding education, therapy, medical, and financial. We struggle everyday trying to figure out how to get our son the services he needs and pray that he can one day become self-sufficient and successful contributing member of his society.
What about your child puts a smile on your face?
Everything!!! He is has the most amazing personality. He always has a smile on his face and it is infectious! He is such a sweet, loving, goofy little child.
What motivates you to participate in research?
I want to learn more about his diagnosis. See what others are going through. Hopefully gain some insight on ways to help him. Perhaps get some direction on resources needed.
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)?
Perhaps through our sons diagnosis, more will be learned on these rare changes and others may not have to struggle to find the answers they need as much as we have.
What have you learned about your child’s condition from other families?
They all seem to be very similar, yet somehow very different. They share traits such as global delays and speech issues. Some ASD, hearing issues, physical defects, while others do not.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Having the diagnosis does not change anything other than giving you peace of mind that there is a cause for the issues your child is having. The only thing we can do is treat the symptoms and issues as they present themselves. Stay patient and strong for your child. Never give up on him/her and do not allow him/her to give up on their self. Laugh often, love much, and above all, know that your child is special and he/she is exactly the person God has created him/her to be!! You will learn as much from him/her as he/she will learn from you. Be blessed.
What is one question you wish researchers could answer about your child’s genetic change?
Will my child be self-sufficient and be able to care for himself as an adult?
Is there anything else you would like to share with other families?
Our children will learn more from our example than anything we will ever say to them. Be a positive role model and an advocate for your child – always!