Together with RARE Science, a family looks for answers and raises awareness for a rare disease called ADCY5.org.

ADCY5.org supports and provides resources to the ADCY5.org community. The organization whose goal is to connect affected families with research and clinician communities to accelerate the alleviation of ADCY5-related dyskinesia.

RARE Science and ADCY5.org are working together to find other children like Lilly.   Lilly’s parents, Gay and Steve Grossman, started ADCY5.org to support other families like theirs that have a child with an ADCY5.org mutation.  The organization whose goal is to connect affected families with research and clinician communities to accelerate the alleviation of ADCY5 – related dyskinesia, is working with RARE Science to implement strategies for patient outreach.  The goal is to unite a patient community to understand the biology of the disease.   Please click here to download information about the ADCY5.org patient registry.

What is the ADCY5 Gene Mutation?


A mutation in the ADCY5 gene, results in ADCY5-related dyskinesia, a motion disorder that causes involuntary muscle movement such as tics and spasms. With the small group of patients identified there is broad variation of how individuals are affected. The disorder’s onset ranges from infant to late adolescent age. Infants with severe cases may experience a delay in motor milestones.

ADCY5-related dyskinesia is likely under-recognized or misdiagnosed as another motion disorder such as Cerebral Palsy. At this point, because of the low number of patients that have been identified, it is challenging for researchers and clinicians to characterize the disease. Currently diagnosis can only be achieved through genetic testing and there are inadequate medicines available to treat or cure patients. As more individuals are gathered through a registry, faster ways toward diagnosis and treatments may be determined.

Lilly is 19

She is affected by ADCY5

Read Her Story

If you are a caregiver or know of a patient like Lilly or are a clinician or researcher working on ADCY5, please contact RARE Science at info@rarescience.org. Additionally, you can contact ADCY5.org at sjg@san.rr.com. Every patient, researcher, and clinician moves the patient community closer to new treatments.