By: Jordyn, Parent of Henry, a 1 year old with a rare genetic change
“Take it day by day. Grieve if you need to, don’t hold it in or you’ll end up bitter. Throw the milestone handbook out the window and celebrate every single accomplishment of your sweet child.”
What is your child’s relationship like with his/her siblings?
He’s the baby of the family. He loves his sisters and his sisters adore him!
What does your family do for fun?
We snuggle up and watch movies together and we play games when it’s child outside. We enjoy spending time outdoors during the warmer months going camping, going on walks, working in the garden and grilling out as a family.
Tell us about the biggest hardship your family faces.
I think the hardest part is not knowing what to expect. We don’t know that he’ll ever talk, we don’t know if he’ll have seizures, we don’t know to what degree his disability will challenge him, we don’t know if he’ll be on the Autism Spectrum, we don’t know if he will be able to do the things his peers do. It saddens us, however we are being proactive and starting services as early as possible to help him life the best quality of life.
What about your child puts a smile on your face?
Henry’s smile is contagious, his eyes will light up a room and his laugh will melt your heart. He’s a doll baby!
What motivates you to participate in research?
To help families get the most information as possible, so they can too, help their child live to the best of their ability.
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)?
Every piece of information, big or small, will bring you one step closer to understanding and knowing more about his syndrome.
What have you learned about your child’s condition from other families?
I’ve learned that every person with the diagnosis is different. There is a very wide range to which your child will be affected. I’ve heard of individuals having a mild learning disability to individuals having ASD.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Take it day by day. Grieve if you need to, don’t hold it in or you’ll end up bitter. Throw the milestone handbook out the window and celebrate every single accomplishment of your sweet child.
What is one question you wish researchers could answer about your child’s genetic change?
I have a lot… Whether or not he will suffer from seizures. Whether or not he will be autistic. Whether or not he will be able to speak. Whether or not he will be able to play and make friends with his peers.
Is there anything else you would like to share with other families?
Don’t have expectations, instead wait for tiny miracles to unfold before your eyes.