“What you do makes a difference, and you have to decide what kind of difference you want to make."
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS)is a rare neurodegenerative dominant disorder, discovered in 2018. The disorder is caused by a change in the interferon regulatory factor 2 binding protein like (IRF2BPL) gene. Diagnosis can be confirmed by comprehensive molecular genetic testing such as whole exome and or whole genome sequencing.
|
Symptoms |
Children with IRF2BPL disorder commonly experience normal initial development early in life followed by the following symptoms which vary from mild to severe, appearing between the ages of 6 months and 10 years:
Learn more at Child Neurology Foundation Disorder Directory
|
Natural History Study and Patient Registries |
A Natural History Study was conducted by Dr. Loren Pena at Cincinnati Children's Hospital Medical Center. Data from this study is crucial to all researchers working towards a treatment and cure. Publication on the study can be found here.
To speed up the science, research and development for treatments for NEDAMSS/IRF2BPL disorder, we encourage all families to register with and researchers to reach out to Simons Searchlight and Combined Brain.
|
Parent Support |
Raising a child with NEDAMSS/ IRF2BPL related disorder can be overwhelming as it affects multiple aspects of their life. The IRF2BPL Parent Support Group on Facebook is where parents support each other and share their experiences and knowledge.
|