Liz Marfia-Ash, President and Founder of GRIN2B Foundation, discusses life as a parent of a GRIN2B patient and resources her foundation offers.
GRIN-related neurodevelopmental disorders are a family of rare genetic disorders caused by pathogenic mutations in the GRIN genes. These disorders are characterized by childhood-onset epilepsy, developmental delay, movement disorders, and features of autism spectrum disorder. The symptoms a child experiences and the severity of the disorder can vary widely. GRIN is not the name of a medical condition but rather is the name of the gene that is affected.
Ms. Marfia-Ash’s daughter was diagnosed with GRIN2B ten years ago, before the disorder even had a name. As a caregiver, she spends her days assisting her daughter in everyday tasks such as dressing, eating, and moving around, on top of her work in the GRIN2B Foundation.
The GRIN2B Foundation was started following the recognition of a need for support, resources, and advocacy in this rare disease space. The organization currently offers resources and programs such as:
- Connection to other families
- Connections to specialists
- Funding of a center of excellence
- Patient assistance grants
- Educational material
- Patient registry information
- Clinical trial and research study information
- Conferences
- Fundraising
For resources and support, visit GRIN2B Foundation.
GRIN-related disorders currently have an ongoing clinical trial, a major breakthrough for this indication. To learn more, click here.
To learn more about rare neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/
