The Nalleys’ Journey with 16p11.2 Distal Duplication Syndrome

What is your family like?

We are a family of 7. Our 18 year old, Auriana, was diagnosed at birth with Down Syndrome, but she has never fit into the typical Down Syndrome category. She has always been extremely small, has severe speech delays, and other abnormal characteristics. After years of searching for answers, we were finally able to convince genetics to re-run her genetic testing. When we got back the results, which showed 16p11.2 duplication on top of Down Syndrome, the pieces all started falling into place. While the genetics specialist admitted they did not know what this meant, I found Simons Searchlight and realized that there were others who were similar. I had myself tested and learned that I also have the duplication, so I had the rest of my children tested and learned they ALL have 16p11.2 duplication! We are now on a journey of learning and advocating together!

What do you do for fun?

We homeschool all of our children, and in doing so, we enjoy exploring State and National parks, museums, gardens, and roadside attractions!

Tell us about the biggest hardship you face.

Our biggest hardship has been the initial delay in testing and diagnosis and the lack of understanding about this syndrome from doctors and medical personnel. We have even had doctors tell me that this diagnosis is “insignificant” and they refuse to add it to the chart, which is disheartening as I feel it explains so many things that we have experienced.

What motivates you to participate in research? How has participating in research been helpful for you?

I was so happy to find the research opportunity so that we can help find answers and advocate for ourselves and others!

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

I feel like we have a unique opportunity in sharing our experiences since all of us have it to varying degrees and Auri has this on top of another chromosome difference.

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

What to expect for the future. Will there ever be a “name” for this genetic difference? What is it about this gene that seems to cause each person to be affected so differently?

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

Many others face some of the same challenges. No more feeling like we are alone and unheard.

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

Don’t let this diagnosis scare you since it is such a varying degree of what, if any, symptoms you may experience. But, knowledge is power. If I had known about this diagnosis earlier, I feel like we could have been more on top of some symptoms as they began to appear.

How has Simons Searchlight served as a resource for you and your family?

Simons Searchlight has been a true light in the darkness! The counselor from Simons Searchlight was the first medical professional to validate and acknowledge that this diagnosis meant something! Simons Searchlight research has been empowering!

💛 Navigating the transition to adulthood? Explore our Transition to Adulthood Resource Hub for resources for families supporting adults with rare genetic conditions.