NRXN1-Related Disorder Resources (2p16.3 deletion)
Listed below are potentially helpful handouts and informational booklets for navigating a rare genetic diagnosis, as well as support groups for those with a NRXN1/2p16.3 deletion. These resources are not meant to take the place of medical advice.
2p16.3 (NRXN1) Deletions Guide – Understand Rare Chromosome and Gene Disorders (Unique)
See here for Unique’s free and informative guide on 2p16.3 deletions / NRXN1.
- English: https://rarechromo.org/media/information/Chromosome%20%202/2p16.3%20(NRXN1)%20deletions%20FTNW.pdf
- Spanish: https://rarechromo.org/media/translations/Espanol/2p16%203%20Delecion%202p16%203%20(NRXN1)%20Spanish%20FTNW.pdf
- Additional language translations: https://rarechromo.org/disorder-guides/
NRXN1 Network
Developed by ASPE Advisory Board Memeber Marissa Mitchel, the NRXN1 Network’s mission is to build a collaborative network of families, clinicians, and scientists in order to support individuals affected by NRXN1-related disorder. Marissa is the mother of a child with NRXN1 disorder as well as a speech-language pathologist and researcher at a neurodevelopmental pediatric clinic. The NRXN1 Network Support Group also provides support, information, and advocacy for individuals and families with NRXN1-related disorder, including 2p16.3 deletion.
- See here for more on the NRXN1 Network: https://www.nrxn1network.org/
- Link to Facebook Support Group: https://www.facebook.com/groups/1358941484882332/
Simons Searchlight NRXN1-Related Syndrome Gene Guides
Simons Searchlight provides general guides for those interested in better understanding NRXN1-related syndrome.
The Ultimate Rare Disease and Disability Resource Guide
Developed by Sierra Phillips, this guide is a wonderful breakdown of resources for those diagnosed with or caring for someone with rare disease, undiagnosed disease, chronic illness, medical complexities, and disabilities.
Simons Searchlight – A Family Guide Navigating Life After a Rare Genetic Diagnosis
This guide from Simons Searchlight covers the steps from genetic diagnosis to finding resources and potential treatments for rare genetic neurodevelopmental disorders. It is designed to help caregivers and families navigate the complicated world of rare diseases.
Unique Tales – A Comic Book for Understanding Rare Chromosome and Gene Disorders
Unique Tales is a fun cartoon-style booklet aimed to help explain chromosomes and chromosome disorders to children.
- English: https://www.rarechromo.org/cms/wp-content/uploads/2017/07/UniqueTales.pdf
- Italian: https://www.rarechromo.org/cms/wp-content/uploads/2017/07/UniqueTalesItalian.pdf
- German: https://www.rarechromo.org/cms/wp-content/uploads/2017/07/UniqueTalesGerman.pdf
- Russian: https://www.rarechromo.org/cms/wp-content/uploads/2019/06/UniqueTalesRussian.pdf
Ned and Nelly’s NRXN1 Deletion Story
A storybook to help families to read and learn about NRXN1 deletions together. Created by Ciara Molloy and Louise Gallagher Illustrated by Isabel Hernandez.
Unique – Rare Chromosome Disorder Support Group
Unique also has a Facebook Support Group for Rare Chromosome Disorders – a place for support, networking, and information to help those with rare chromosome and gene disorders, as well as their families and caregivers.
Simons Searchlight – NRXN1 Support Group
The Simons Searchlight NRXN1 Support Groups provide platforms to share progress and to stay connected with you, patient advocacy organizations, and other rare disease groups.
NRXN1 / 2p16.3 family groups are available on social media platforms that could provide peer support. Please note that the views expressed on such platforms do not necessarily directly reflect those of the Autism Spectrum Program of Excellence nor the Perelman School of Medicine at the University of Pennsylvania.