By: Nevin, Parent of Nia, a 2 year old with an SCN2A genetic change
“Keep searching and believing. Don’t ever give up.”
What is your child’s relationship like with his/her siblings?
Nia is an only child.
What does your family do for fun?
Nia loves being outside. The water is one of her favorite things. This summer swimming and playing outside was one of our favorite past times. Nia loves going on walks, (loves momma to push her in the stroller), being around other children and our family. We love to sing and dance. Bubble guppies is Nia’s TV love. Nia loves to wrestle…not momma’s favorite thing to do but I will give her a good dose of tickles to suffice.
Tell us about the biggest hardship your family faces.
Nia is 2 and non verbal. You can tell she wants to talk so bad, not being able to talk is a challenge. We have been working on sign language, however, with some of Nia’s sensory issues with her fingers, she has not been interested, although we have been doing ST and OT and started seeing huge gains…This was very exciting. Nia had her first cluster of seizures and this has been a set back. Finding the balance in medication to be seizure free and to keep Nia feeling herself has been touch and go.
What about your child puts a smile on your face?
I love seeing the joy Nia has. She has the biggest smile and the best laugh. She is one determined little girl.
What motivates you to participate in research?
I have been looking for answers persistently always onto the next step. Once we received the news that Nia has SCN2A…it has answered many questions but still yet so many questions I have. Nia was tested for a genetic test but her father nor I was. I want us all to have the big genetic test and be able to learn more about her condition.
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 feel like I have been proactive from the moment I found out about Nia’s disorder.
What have you learned about your child’s condition from other families?
The vast variances in each child is so large.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
To keep the hope, don’t give up. Keep looking and searching for answers.
What is one question you wish researchers could answer about your child’s genetic change?
Exactly where did her change occur. Was it inherited or spontaneous. Is there any way that they can tell from where Nias change occurred what to look for..or better yet the best therapy and help we can give her.
Is there anything else you would like to share with other families?
Keep searching and believing. Don’t ever give up.