By: Jeslene, Parent of Jaylene, a 6 month old with an STXBP1 genetic change
“Don’t let it consume you! There’s still a child that needs you and needs you to be her or his advocate! Learn to be his or her voice and do what’s best for them.”
What is your child’s relationship like with his/her siblings?
They are very close my oldest loves her little sister so much and is very protective.
What does your family do for fun?
We love six flags and getting wet both my daughters love the pool. We love doing new things so every chance we get we go somewhere new.
Tell us about the biggest hardship your family faces.
The most is Jaylene’s inability to do things on her own and is very dependent. Also having multiple appointments and therapy sessions during the week. Jaylene sees her pediatrician often as well as her neurologist and is now about to have a GI dr as well as physical and occupational therapy along with speech therapy. My oldest daughter sometimes feels we don’t give her the attention she deserves due to always having to go see drs.
What about your child puts a smile on your face?
Everything! Jaylene is such a happy baby she smiles at everything and everyone. She never cries unless she’s hungry. She looks at you with such love and admiration it’s impossible not to look at her and smile.
What motivates you to participate in research?
I want to know everything I can about her diagnosis that way I can prepare myself and give her the best chance at a happy and healthy life so anything I can read or do to help and receive help I’m willing to do. Like I said before she’s such a happy baby and that motivates me to help her continue to be happy.
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 this is so important for our kiddos and family and support Simons Searchlight 100% since there is not much out there about stxbp1 I’m glad his company has taking it upon themselves to do research on this.
What have you learned about your child’s condition from other families?
A lot! If it wasn’t for the support group I don’t know what I would do. The group has allowed to get a glimpse into what my life might be like as well as I have a support group to ask questions about concerns I have. Everyday is a different day and Jaylene shows different signs of stxbp1 and sometimes I don’t know if it’s normal or if I should be concerned so having a group to to help me with any questions or concerns helps a lot as well as emotional support when I’m having a bad day.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Find support ASAP! There are a few support groups that are amazing for emotional support and are there to answer any questions. Also reading the book by Areva Martin called being the best advocate for you child with autism and other disabilities. That changed my whole outlook in life. Also it’s ok to go through the grief and feel hopeless and feel like it’s your fault. Cry! Cry cry all you want as hard as you want, go through the stages of grief… but Don’t let it consume you! There’s still a child that needs you and needs you to be her or his advocate! Learn to be his or her voice and do what’s best for them.
What is one question you wish researchers could answer about your child’s genetic change?
is it possible to have stxbp1 and still be able to function like a regular child, toddler, young child, teen, adult!
Is there anything else you would like to share with other families?
Here are 2 groups in Facebook with amazing parents who are going through this as well here’s their name look for them on Facebook it will help. Stxbp1 parents alliance and parents with children who have stxbp1