DESCRIPTION
A mutation is a change in a gene that causes it to not work properly. Mutations in the IRF2BPL gene can affect the brain and nervous system. The function of IRF2BPL is not yet known. Experts believe IRF2BPL is important for developing and maintaining healthy brain cells.
Symptoms usually begin in early childhood and can get worse over time. This disorder is a lifelong condition.
CAUSES
IRF2BPL–related disorder is caused by a mutation in the IRF2BPL gene. Although it is a genetic condition, it is not usually inherited from parents. It is typically a “de novo,” or new, mutation. The child has the newly mutated gene, and the child’s parents do not.
- Blood, urine, or saliva tests. These tests are used to screen for genetic conditions.
- Magnetic resonance imaging (MRI). MRI can create images of the brain and other parts of the nervous system. An MRI may find important signs of this disorder. These signs include a smaller cerebrum and cerebellum, which are parts of the brain.
- Electroencephalogram (EEG). An EEG creates a recording of the electrical activity of the brain. This can help look for seizures. It can also help detect a tendency to develop seizures.
The final diagnosis of IRF2BPL–related disorder is reached with genetic testing.
Resources
Alex’s Odyssey aims to raise awareness and encouragement for other brave children who have been diagnosed with NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) or IRF2BPL related disorder. Learn about the symptoms and the latest in research on the About IRF2BPL page.
The mission of AllStripes is to unlock new treatments for people affected by rare disease. Serving as a research platform dedicated to rare diseases, AllStripes makes it easy for patients to contribute to new treatment research from home. There is no cost for patients, families, or advocacy organizations to participate, join research programs, or use the platform. AllStripes does the work to collect and analyze de-identified medical records to help power faster, better drug development. By bringing patients, doctors, and researchers together everyone learns from each other’s experiences to effectively push for better treatments across all rare conditions. They have over 40 active rare disease programs, which includes IRF2BPL/NEDAMSS, and they are adding more every month.
AllStripes partners with rare disease patient advocacy organizations and key opinion leaders to build the programs. Expert researchers produce original research insights and publications, as well as partner with academic institutions and pharmaceutical companies to make progress towards new treatments.
Disclaimer: AllStripes is a Public Benefit Corporation funded by private investors. Child Neurology Foundation does not specifically endorse products provided by AllStripes.
The mission of iDREAM For a Cure (formerly STAND BY ELI Foundation) is to raise funds for research on IRF2BPL related disorders. This charity is a project of the Giving Back Fund, a non-profit organization. iDREAM is working with Texas Children’s Hospital and Nationwide Children’s Hospital to find answers, treatment, and possibly a cure for children affected by this gene mutation.
IRF2BPL Foundation supports individuals and the families impacted by NEDAMSS and other IRF2BPL related disorders caused by mutation of IRF2BPL gene. Their mission is to:
- Elevate public awareness, educate physicians, and to unite with other rare patient organizations to facilitate timely diagnosis.
- Accelerate research to further push the discovery and development of treatments and therapies.
- Build a community network of patients, caregivers, clinicians, researchers, advocates, and volunteers dedicated to finding and bringing specialized care, treatments, and improved quality of life to all those affected by the disorder.
The IRF2BPL Foundation hosts the IRF2BPL Parent Support Group, a private Facebook group where parents support each other and share their experiences and knowledge.
Simons Searchlight is an ambitious research program that is creating an ever-growing database and resource network. They aim to further the understanding of over 150 genes that cause rare genetic neurodevelopmental disorders, including IRF2BPL. Families share valuable information and experiences that leading geneticists and scientists around the world can use to improve the lives of people living with rare genetic neurodevelopmental disorders. These researchers can also invite families to participate in their research studies in the future. People with genetic diagnoses, their families, and scientists play equal parts in this journey. The study is international, and families can participate in several languages.
Simons Searchlight hosts private Facebook communities for each genetic condition. Connect with the IRF2BPL: Simons Searchlight Community.
PUBLICATIONS
Podcast from CoRDS Cast, a rare disease podcast series created by the team at Sanford Research. On this episode of CoRDS Cast, Alyssa sits down with Caroline Yiu. Caroline’s son Alex, was diagnosed with a very rare neurodegenerative disorder called NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures.)