There are 7,000+ identified rare diseases, altogether impacting over 25 million Americans. These individuals face many challenges, from difficulty getting a diagnosis, to lack of information and treatment options. Fewer than 5% of rare diseases have an FDA approved therapy. That’s why GeneticaLens, in partnership with New York University’s Tisch School of the Arts and Clinical & Translational Science Institute, is developing the Clinical Picture Maker (CPM). The CPM uses the power of video to show what a rare disease and its symptoms look like. Video captures symptoms as they occur, and can show individuals in their natural settings, such as at home, school, or work. Videos can provide a deeper understanding of how the symptoms impact daily life, leading to improved patient care and research that is more in-tune with the needs and lived experiences of individuals with rare diseases. 

If you have a child who has been diagnosed with an SCN2A-related disorder, we invite you to participate in the development of this platform. Key to the platform is the DAYTool, an online application that guides families on how to record and upload videos documenting their rare disorder. The DAYTool will help accelerate the collection of videos, and expand opportunities for video documentation of rare disorders so that more and more clinicians and researchers can see what these disorders look like and their impact on children and families.

If you choose to participate, you will be asked to sign onto the DAYTool. You will be prompted to provide basic information including your email, your child’s name, gender, and date of birth. You will then be able to begin using the DAYTool.

The DAYTool will provide user-friendly instructions on how to record videos of your child using your smartphone, digital camera, or webcam. No worries, you need no experience! It’s easy because it's a topic you know all about. You will record various activities that are part of your child’s everyday life, such as their morning routine, any therapies they receive, how they interact with others, how they move around your home, and more. Which activities you record is ultimately your choice.

Then, you will upload the videos you record to the DAYTool website. These videos will be reviewed by experts, and added to a database of videos called the See System Rare Disorder Video Database. Clinicians, medical students, researchers, pharmaceutical developers, and other families will be able to view the videos in the database to learn about SCN2A, and other rare disorders. Additionally, your video may be included in the creation of short documentaries and tools focused on specific topics related to SCN2A. 

You will also be asked to provide feedback on your experience using the DAYTool. This feedback will help us improve the tool, and expand the use of video to document rare disorders. You will also be able to share the videos you record with your clinicians, therapists, or other caregivers.