Brooke’s Story

By: Jacqueline, Brooke, a 7 year old with a ARID1B genetic change

“Do not be in denial of the situation. Start getting therapy and help for your child immediately.”

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

They’re best friends and love each other. They’re very close.

What does your family do for fun?

Movies, travel, go out to eat, shop, Disneyland, bike rides to the park…..

Tell us about the biggest hardship your family faces.

Brooke has autism with significant speech and intellectual delays.

What about your child puts a smile on your face?

Her sweet disposition…her smile….her friendly attitude.

What motivates you to participate in research?

I’d love to help our daughter be the best version of herself.

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)?

More information can only help to have a better understanding of this syndrome.

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

Not much. I’ve only met one other child and her symptoms were far more severe.

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

Do not be in denial of the situation. Start getting therapy and help for your child immediately.

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

We live in Marin County, California and my daughter Brooke has an “ARID1B duplication”. At 15 months her pediatrician became concerned when she was not meeting certain milestones such as responding to her name and interacting with others. A few months later we went through a series of tests in the pediatric neurology department at UCSF. It was there that they discovered the duplication and diagnosed her with classic autism. She is now 7 years old. We have another daughter who just turned 6 and is neuro-typical. Brooke has significant intellectual developmental delays and speech impediments. She attends a special education k-2 class and is improving more and more each year. She’s being mainstreamed in music and art where she excels. She is also mainstreamed in a “Zumba class” and takes a gymnastics class with “neuro-typical” kids. We believe she might also have ADHD which she just started taking guanfacine for. I have heard the CBD oil is supposed to work wonders however her neurologist cannot recommend it because even though cannabis is now legal in California…UCSF is federally funded and cannabis has not be legalized countrywide. Has anyone had any success with cannabis? Guanfacine? Brooke does not suffer from epilepsy or seizures. She has never suffered from any physical issues in fact she is quite agile and her sense of balance is extraordinary. She taught herself how to ride a bike at age 5 in less than 2 minutes. Brooke is fortunate and has not suffered from any of the medical concerns listed with ARID1B syndrome. She has never had feeding difficulties, hearing or sight issues,heart/kidney problems…etc. She is a very friendly and has never exhibited any aggressive behavior despite being autistic. She has a sweet disposition however she is definitely mischievous and loves getting “a rise out of people.” Any comments or recommendations would be much appreciated…thank you!