“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.
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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 Genetic and Rare Diseases Information Center
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Funding Reanalysis and Research |
The TGen Center for Rare Childhood Disorders applies the most current tools in genomic medicine to help diagnose children with conditions whose genetic causes are unknown. You can help other TGen patients and their families have another opportunity for a diagnosis. Please see Alex’s page.
The Stand by Eli Foundation funds several US research studies searching for treatment and cure for this devasting disorder. You can help Alex and all children with NEDAMSS/IRF2BPL related disorder. Please see Alex’s page for more information.
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Natural History Study and Patient Registries |
A Natural History study is being conducted by Dr Loren Pena from Cincinnati Children’s Hospital Medical Center. Data from this study is crucial for all researchers working towards a therapy and cure. Additional details about the study can be found here.
To speed up the science, research and development of treatments for NEDAMSS/IRF2BPL disorder, we encourage all families to register with and researchers to reach out to the following registries:
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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. You can either send a friend request or contact the administrator Satoshi Enoue at irf2bpl@gmail.com.
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