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Get to Know CTNNB1 Connect and Cure (CCC)

About CTNNB1 syndrome

CTNNB1 syndrome is a rare neurodevelopmental disorder caused by variants in the CTNNB1 gene, located at 3p21. As of 2023, there are 430 known patients in the world with CTNNB1 syndrome today with an incidence rate predicted to be at 3 : 100K. CTNNB1 syndrome was first discovered in 2012 and is also referred to as Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV).

CTNNB1 Clinical Features

CTNNB1 syndrome can cause a variety of symptoms. Some common symptoms include varying degrees of intellectual disability (cognitive impairment), delays in reaching developmental milestones (developmental delays), speech delays, abnormal muscle tone, vision impairments, distinct facial features, and behavioral problems. Other symptoms may include epilepsy, feeding difficulties, growth abnormalities, movement disorders, and sleep issues.

Get to Know Connect and Cure

CTNNB1 Connect and Cure (CCC) was the result of the merging of Advancing CTNNB1 Cures and Treatments (ACCT) and CTNNB1 Syndrome Awareness Worldwide (CSAW) in 2022. We are the U.S. nonprofit for CTNNB1 and our mission is to fund research to find safe and effective treatments and a cure for CTNNB1 while also raising awareness and connecting families.

I am Especially Proud of...

Our community is our heartbeat. We are extremely proud of the level of support that our families provide one another and the level of dedication they have for helping all of our affected individuals. This was profoundly evidenced by the merging of the two U.S. organizations in 2022 and by the continued growth and progress towards our goals.

Excited to REN Because...

We are honored to be part of this supportive space for patient organizations and look forward to learning from one another as we continue along this rare journey.

My Journey and Motivation...

My amazing daughter, Savannah, was diagnosed with epilepsy in March of 2022, right in the middle of our 4 month wait for genetic testing results. Upon receiving her CTNNB1 syndrome diagnosis, my husband and I were given very minimal information about the disorder, and I vividly remember frantically rummaging through google for any pieces we could gather about this new life we were being teleported into. We eventually came across the CTNNB1 parent facebook group, where we were instantly welcomed, validated, and loved. We learned about the incredible CTNNB1 community and research progress. A few months later, I pounced at the opportunity to direct the energy I felt surrounding the diagnosis into a meaningful place, CTNNB1 Connect and Cure's board. This deeper involvement has been my personal antidote to the not so pleasant parts of parenting a child with a rare disease. Savannah's epilepsy manifests in very subtle ways. It is often hard to differentiate between seizure movements and her dystonia movements. Because of this, it's really important to me to promote awareness of this symptom that may otherwise be missed in our community and other similar rare diseases.

By: Emily Amerson, Board Member

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