The Rabideaus’ Journey with 2p16.3 Deletion Syndrome

Tell us about the biggest hardship you face.

Leland was diagnosed with ASD and ADHD in December 2022, when he was 5. It was suggested we get genetic testing done because some tests have shown that some genetic variations can cause autism.

Throughout Leland’s life, there were signs and symptoms of things, particularly ASD. I was not prepared for the final diagnosis, which was kind of anticlimactic and answered so many questions but gave way to more unanswered questions.

In July 2023 we were told that he had NRXN1 Related Disorder where he had a deletion in the region of 2p16.3. It made so much sense! However, there were more questions we had which I think we’ve all had after a conversation like that. After some testing, it was found that Leland’s father had the same deletion, everything made even more sense! But it also shows how having a similar deletion can vastly affect people differently was eye-opening. We are just going to take it day by day and be happy with the information we do know while participating in research to help more people understand in the future.

He is amazing despite everything that has happened in almost 7 years of life. His favorite holiday of the year is Valentine’s Day because he can “spread his love to everyone”. He always has the best hugs and cuddles waiting for anyone who needs them, and that’s what everyone in life needs. He is aware he has a “missing” piece of a chromosome that gives him different abilities and that it causes his ASD, and his ability to love everyone and want love for everyone in the world is one of his “superpowers” that comes along with this ability. He also feels that everyone needs to love rainbows because it makes everyone smile to see one, so he wears rainbow glasses to be happy and make everyone else happy as well.

What motivates you to participate in research? 

As a parent, I would never want another parent to sit through a diagnosis appointment and have the doctor say “We do not know anything about this condition, so you will have to reach out to other parents to ask questions, we only know the basic gist of it from the Simons Searchlight website”

How do you feel you are helping Simons Searchlight learn more about rare genetic changes? 

Participating in research. I know it can take years to see any research on the how and why’s of things. I can be patient, and when I think about our journey, I hope more people will learn about this.

What is one question you wish researchers could answer about this genetic change?

We know where in the brain the NRXN1 gene plays a role. I want to know exactly where the changes on the gene affect what for individuals.

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

It is expected that more people will test for this gene variant with the ability to test becoming more common.

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

It’s okay. Everything will be okay.