The Role of NF1 Lay Foundations: Future Vision

Abstract

Neurofibromatosis type 1 (NF1) is a rare genetic disorder that can cause a variety of clinical manifestations. These include nerve and brain tumors that may result in physical disfigurement or cancer; bone abnormalities that frequently result in amputation; and learning disabilities, from mild to severe. If a child is diagnosed with NF1, clinicians cannot predict which clinical manifestations will ultimately occur. Although many people with NF1 have long lives, the lack of clinical predictability means NF1 can cause a significant and chronic physical and mental toll for those affected. NF1 lay foundations provide an important resource for the NF1 community, including a social connection to other persons and families affected by NF1, and information on finding NF1 clinical care. NF1 foundations are also emerging as drivers of NF1 scientific advances, through funding research, encouraging NF1 scientists and clinicians to share results and reach consensus on key issues, and brokering the engagement of biotechnology and pharmaceutical companies in the search for NF1 treatments. Looking ahead, NF1 lay foundations must be aware of the changing expectations of the patient population, and harness these changes to advance the identification of NF1 treatments and improved clinical care options. Lay foundations are uniquely placed serve to connect research and patients through such resources such as patient registries, and to serve as a source information as well as cautious optimism about NF1 research and clinical trials.