Neurodiversity: From Awareness to Action
Jacalyn Lee is a mom, an advocate and a force of nature. On the latest episode of All Access DNA Jacalyn shares her journey as a parent of a child with an ultra-rare condition known as DEAF1 Associated Neurodevelopmental Disorder or DAND. We talk about her daughter’s initial diagnosis of autism and how genetic testing led to founding a non-profit and writing an advocacy newsletter, The Atypical Advocate.
What struck me most about this conversation is how vulnerable and open Jacalyn is about her experience including her grief and her resilience. There is a grief in realizing parts of life you pictured have changed and the vision you had is now altered. And there is resilience in finding the joy in getting to know your child as well as taking on the fight to help other children. The power of parents never ceases to amaze me and the love and hope they possess is limitless.
Additional information on DAND from Jacalyn’s non-profit, The DAND Alliance:
DEAF1-Associated Neurodevelopmental Disorders (DAND) is a group of ultra-rare genetic disorders resulting from the mutation in the DEAF1 gene. DEAF1 (deformed epidermal autoregulatory factor 1 homolog) plays a critical role in early brain development and regulates the functionality of other genes and proteins in the brain and central nervous system.
Common traits associated with DAND include autism, developmental delays/intellectual disability, impacted speech, seizures, abnormal gait, movement disorders, sleep disturbances, anxiety, and a high pain tolerance.
The FDA considers ultra-rare genetic conditions as diseases that affect less than 1 in 50,000 individuals in the U.S. There are approximately 200 known DAND cases identified in the world to-date. However, we believe there are likely thousands—if not tens of thousands—undiagnosed cases. Due to this small population, accelerating understanding, developing clinical trials—and, ultimately, treatment—presents an increased challenge for this ultra-rare genetic condition.
DEAF1-Associated Neurodevelopmental Disorders (DAND) comprises two distinct disorders with different modes of inheritance and slightly varying symptoms (and associated severity):
