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.
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 associated disorders.
Help us today:
To get treatments, we need to know patients.
If you are a patient or primary caregiver, register your family on our Patient Contact Registry and start or update your profile on Simon’s Searchlight.
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.
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.