Our goal is to provide support, promote research and champion hope for those affected by 16P11.2 Deletion Syndrome
16p11.2 Genetic Foundation
Our Mission
To provide up to date, practical and digestible information and guidance for families to promote children and individuals with 16p11.2 deletion to reach their full potential while celebrating the joys of individual variation.
A Word from Dr. Nika Akid
It's a lot
If you, your child or someone you know has been diagnosed with 16p11.2 deletion, it may feel overwhelming or unclear. That’s how it felt for my husband and I when our 3 year old son was diagnosed in 2014. We created this website and foundation to support you in your journey and provide for you everything we wish we had. There is a lot of information on this website. We have purposefully tried to make the website calm and the information easy to digest. Take your time slowly reading the sections and then digging in deeper in areas that may apply to you or your family. It will all still be here. If your instinct is to turn off the computer and never look at this again, check out the Why Intervene Early section before logging off. Should you want to support this work, please make a tax deductible donation. And if you want to be involved, please contact us. We are here for you.
A good place to start
Fun and
Informational Books
We have created The Curious Kid Series! to help anyone understand the concept of genes and DNA and how they affect us. It is authored by a medical professional and mother to a child with 16p11.2 deletion and illustrated by an engineer and artist as well as a mother to a child with 16p11.2 deletion. It is a labor of love created by the collaboration of an Iranian doctor in California and a Brazilian engineer in Germany who have never met in person but brought together through the Simons Searchlight Foundation for their own children shared with you to aid in your journey. The books are available on Amazon and all proceeds go to fund the 16p Genetic Foundation who created this website.
we use universally known analogies and beautiful imagery to explain what DNA and genes are and how they instruct our body within the context of a conversation between a child and his mother.
what are my genes?
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we continue the conversation between mother and child to explore what mutations and variations are and the necessary and natural process of variation in nature and our lives.
What is variation?
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we explore the psychosocial impact of a genetic diagnosis on the family structure. This book is told from the point of view of the older sibling and aims to also describe the specific possible associations with 16p11.2 deletion and some possible treatments. Book 3 anticipated to be available for purchase in early 2024.
Just Breathe!
Information For Your Primary Care Doctor
This Condition Is Rare:
When my son was diagnosed, I was shocked to discover how little the medical community knew and understood about 16p11.2 deletion. He was not tested for a genetic condition at 2 months when he presented with breath holding episodes nor when his speech was significantly delayed at age 3. It was upon my suspicion that “something is not right” that I took him to see a private psychologist and she recommended genetic testing as an afterthought. And once we had the diagnosis, I realized how little I knew about it and looked forward to seeing our network’s geneticist and neurologist. I was shocked to find out that there was no standard of care for those with 16p11.2 deletion and so much existed on the research plane. In order to find out what I needed to do for my son, I had to go to the few people in the world who specialize in this condition, and they practiced amongst researchers and lived scattered across the globe. The foremost knowledge and expertise came from Dr. Wendy Chung. This led to a natural collaboration for best care practices. Health supervision for children and adolescents with 16p11.2 deletion syndrome serves as a standard of care for those with 16p11.2 deletion and compiles the most up to date science to aid your primary care doctor to provide appropriate care and advice. It was funded by the 16p11.2 Genetic Foundation and published by Cold Spring Harbor’s Molecular Case Studies Journal.