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If you are a parent of a child who has recently been diagnosed with BPAN, please know that YOU ARE NOT ALONE. We, have been exactly where you are today, filled with questions, overwhelmed by fear of the unknown, feeling the urgency to "do" something, anything. Each BPAN family has their own unique story. Receiving a formal BPAN diagnosis for many has been a medical odyssey, a diagnosis which for some has taken years, sometimes decades to receive. Today, through our shared experience and our shared stories, we hope that you know that you never have to do this alone.

Sophia’s iHope Story: Diagnosing a Rare De Novo Mutation

Sophia’s iHope Story: Diagnosing a Rare De Novo Mutation

Sophia and her family spent years in search of a diagnosis for her condition. Finally, a de novo mutation was discovered through a clinical whole genome sequencing (cWGS) test she received from the Illumina iHope Network. Hear her parents, her geneticist Dr Christian Schaaf of Baylor College of Medicine, and Illumina Senior Medical Scientist Dr John Belmont discuss what it means to have a diagnosis after a long journey. Learn more about the iHope Network, which donates cWGS tests to help find answers for children facing rare and undiagnosed diseases: Subscribe to the Illumina video channel A global genomics leader, Illumina provides comprehensive next-generation sequencing solutions to the research, clinical, and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science, and beyond. *Data calculations on file. Illumina, Inc., 2015. View customer spotlight videos View Illumina webinars View Illumina product videos View Illumina support videos


To help spread awareness of BPAN, it is important for our BPAN community to share patient stories through a variety of methods. This includes bringing a face to the disease through photos and videos on our website, social media, brochures and other promotional materials. If you are interested in sharing your child’s photo(s), video(s), and/or story with us, please complete the form below. Any questions on photo and video usage may be directed BPAN Warriors Executive Director, Sarah Chisholm.

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