By: Sarah, Parent of Cecilia, an 11 month old with a 1q21.1 Deletion
“Each kiddo is different, and though they may have similarities, it’s truly a one of a kind thing.”
What is your child’s relationship like with his/her siblings?
Our kids love each other so much. There relationship is such a blessing. Of course, the older siblings are very typical and like to aggravate each other, but can’t survive without each other. Our daughter with the known 1q21.1 deletion adores her older siblings. She’s very sensitive to sounds and visual stimuli and has a lot of fears already, but her big brother can be loud in her face and she absolutely loves him. It used to be the dog would bark and she’d lose her mind, but her big brother could roar like a lion and she’d laugh. All three of our kiddos have their own specific challenges in social/emotion/behavioral/medical areas but they all love each other like nothing is different.
What does your family do for fun?
We go to parks, usually parks with few people to avoid germs, play outside at home, play video games with the older kiddos, go for walks, jump on our neighbors trampoline with the big kids, have campfires and star gaze, read books, and camp in our camper.
Tell us about the biggest hardship your family faces.
We’ve gone through various stages of hardship. Our older son was an amazingly happy baby despite sensory issues, but one day woke up as a child with a multitude of behavior issues that isolated us entirely. He also had a huge surgery to correct GI issues and a feeding tube for awhile. Then, our middle daughter was born and had severe pancreatic insufficiency and we were constantly traveling to appointments and desperately trying to figure out how to get her to be able to eat. Then once that was more stable, our youngest was born and she’s our first that has hypotonia, hyperflexibility, gross motor delays, and even more severe GI issues. She was FTT, and arched and vomited the first 7 months of her life. Then she had a fundoplication and Gtube and the Gtube was a complete failure. She cannot tolerate anything at all in her stomach so now she is fed only J feeds via GJ 24 hours a day since we are unable to increase her rate either. Hospital stays for months and weeks are our toughest challenge, but also balancing the therapies and appointments between all three children each week is incredibly difficult. Also our youngest with the genetic change has some really intense fears already at 11 months of things like certain stuffed animals or things that vibrate.
What about your child puts a smile on your face?
So much. She is an absolute joy and social butterfly as long as she’s in my arms. She loves Sesame Street so much and it calms and soothes her as she tries to dance along. Her smile is HUGE and absolutely beautiful. Each of her distinct facial features makes her so, so adorable. She give the best hugs and kisses and loves to laugh. There are so many things about her each day that make me smile and my heart overflow.
What motivates you to participate in research?
The hope of helping others not have to walk through quite as much someday or even for our children’s children to have a hope of having their own children that may not have to cope with the effects of this genetic change.
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)?
Letting others learn how to help and interact and cope with children affected by these gene changes is such a positive thing because even I wasn’t as exposed to children with extra needs when I was younger, but not they can be and instead of being afraid, we can embrace it and help each other out.
What have you learned about your child’s condition from other families?
There’s a wide variation of symptoms and strengths and weaknesses for each child.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Each kiddo is different, and though they may have similarities, it’s truly a one of a kind thing. Take it one day at a time and when something new arises, breathe, and ask around to other parents and therapists to come up with a good solution that works for your child. Remember it’s not one size fits all. Don’t try to take on the “what-if’s”. Understand what could come, but then face each day with what you’re experiencing, not worrying about what may come tomorrow.
What is one question you wish researchers could answer about your child’s genetic change?
Can we expect her to remain relatively stable making the type of progress she is, or will there be stalls in progression and will her symptoms increase overtime?
Is there anything else you would like to share with other families?
You are not alone.