By: Jennifer, Parent of Marcos, a 4 year old with an SCN2A genetic change
“Every case is unique, some families have truly gone wrong, it is best to love in the present and help your child to make their day to day the best possible!”
What is your child’s relationship like with his/her siblings?
Despite the typical quarrels between brothers and sisters, the relationship is good, they love each other and they protect.
What does your family do for fun?
Go to the beach or hike … they love to explore and do fun activities at home.
Tell us about the biggest hardship your family faces.
Not being able to control all the crises Marcos has, and his behavior, sometimes we do not know how to act, what to do.
What about your child puts a smile on your face?
When he talks to me and tells me stories … when he sings and plays the imaginary drummer, when he dances with disco music, when he says I love you I want to marry you when I’m a dad … when he prays to God asking for today .
What motivates you to participate in research?
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)?
As far as I know, most cases with variation in the Scn2a gene that tend to epilepsy begin at early ages, sometimes are days, and in our case, Marcos had the first epileptic seizure at 2 years and 10 months. Perhaps the range of possibilities can be opened.
What have you learned about your child’s condition from other families?
Every case is unique, some families have truly gone wrong, it is best to love in the present and help your child to make their day to day the best possible!
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Read, comment, seek support, pray to God, cry! Help others. Among all we can give way to researchers to study our cases and see if there is anything else that can be done. And of course he loves unconditionally the treasure you have for a son. A true gift from God, a special child for Special Parens with understanding, loving, strongs, tenacious, able to overlap and look together to a tomorrow, sometimes uncertain, but with the strength of family, friends, and God everything is possible !
What is one question you wish researchers could answer about your child’s genetic change?
What can I do to facilitate Marcos’ day to day life? Sometimes he is rejected at school, he has no friends, we ourselves do not know how to treat him sometimes, what to do … My question would be that, what can I do to help him?
Is there anything else you would like to share with other families?