Nellie’s Story

By: Serena, Parent of Nellie, a 10 year old with a 4q21 Deletion

“Your child is always your child first, and you are the expert on them! Before their diagnosis, or any labels. “

What is your child’s relationship like with his/her siblings?

Nellie is the middle child of our 5, she gets along well but has lots of typical sibling issues, and extra challenges due to her severe special-needs. She has two older sisters (oldest is 20!), a younger brother, and baby (3 yr. old) sister. We have a busy house! We go out and do many things together as a family, Nellie is always included!

What does your family do for fun?

We have a program called Botany for Kids, and Nellie helps us take care of the garden in front of the Balboa Park Lily Pond. She is very proud of our work there! We do lots of other garden projects around San Diego, and are going to build a big garden for the San Diego County Fair. We go to many community events, also!

Tell us about the biggest hardship your family faces.

Not getting the help and services we need for Nellie, and everything being a fight or running into walls due to funding issues are hopefully problems that someday have solutions. The finances, time, and energy needed to take care of a special-needs child are more than ever possible!

What about your child puts a smile on your face?

Nellie loves everyone, usually has a big welcoming smile, and says “Hi!” or waves at everyone. She lights up a room!

What motivates you to participate in research?

We want to know more! We have been so limited by insurance in getting a diagnosis, besides finding the function of her missing genes and what it means, maybe more pieces of her puzzle will click? We may find out more about the whole family, as well?

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)?

There will hopefully be information gathered that will streamline and simplify diagnosis and better treatments for others, as they are diagnosed!

What have you learned about your child’s condition from other families?

EVERYTHING!!! And she is just one of a handful, maybe 6 similar in genes and age on FB? AND THEY ARE ALL VERY SIMILAR!!! And quirky! Autism diagnoses are all atypical in similar ways as they are social, flexible, severe expressive communication issues may complicate it!

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Your child is always your child first, and you are the expert on them! Before their diagnosis, or any labels. Nellie will always be Nellie first!

What is one question you wish researchers could answer about your child’s genetic change?

What specifically the affected genes mean? Do we need tests, interventions, supplements or medications to help? (As parents, we are helping find these answers!)

Is there anything else you would like to share with other families?

Find a group of other families to help solve problems and bring awareness of special issues with! They can truly understand and be your best support!