We are so glad you found us!
We know that a DYNC1H1 diagnosis can be overwhelming. You may be confused, scared, frustrated, uncertain, or relieved to have an answer. As parents of children with DYNC1H1, we know what it's like to feel overwhelmed and isolated – especially in the days and weeks after the initial diagnosis. We want you to know two important things:
You are not alone. There are over 150 individuals with DYNC1H1 variants documented in scientific studies, with more individuals being diagnosed every day. The scientific and medical communities are also gaining awareness and motivation to help us with every passing month. We have over 300 patients registered with us as of July 2026, with more registering every week.
There is hope. We are in a pivotal moment in medical history, where technology and medicine are coming together to treat and cure rare diseases like DYNC1H1 disorders. Our network of researchers, advocates, clinicians, and other professionals are determined to make a difference for all people with DYNC1H1-related disorders. The DYNC1H1 Association is the only group pushing forward these treatments.
To get treatments, we need to know patients.
If you are a patient or primary caregiver, register your family on our Patient Contact Registry.
Next step: join Simon’s Searchlight and complete all available surveys. We also invite you to Share Your Story, which can bring comfort, motivation, and a feeling of togetherness to others in the community.
The Patient Contact registry will allow us to communicate with you about research opportunities, surveys to determine the organization direction, and put you in contact with scientists who want to help. For information on what we’ve learned so far from this registry, see these blog posts.
Simon’s Searchlight is a type of natural history study - the goal is to create a hub of information on genetic disorders that cause developmental disabilities so that researchers are able to utilize that information to move research forward. To learn more, check out this Podcast Episode on the purpose of Simons Searchlight: Once Upon a Gene, Episode 166 or check out the common questions asked on Simons Searchlight’s website.
We want to see & share your beautiful DYNC1H1 faces!
If you are open to sharing photos of you or your child on social media, the website, and other materials, please submit some images below. We’re also looking for families interesting in sharing their stories. We would love to include you or your child in our weekly patient highlight social media series, in a longer versions of patients’ stories as blog posts, or simply as standalone photos for the website and media.
