As Healthy As Possible

We strive to ensure that Scientific Research that benefits those with a POLR2A gene mutation is visible within academia by forming alliances with these institutions. Discussions surround means of supporting a natural history study began in 2024 with some members of our organization also helping to take part in beta testing of the survey delivery for the genetic registry that would be setup as a part of this survey. The $30 web hosting expenses are attributed to this program service.

We are ambitious about being able to reach out to those affected by mutations of POLR2A gene, help them find the information they need, and to advocate for resources on their behalf. In 2024 our organization became a NORD platinum member, the National Organization for Rare Disorders, and started working on a potential first publication of the POLR2A mutation. This publication morphed into what would become a disease description for the NORD organization. NORD Membership fees of $37.50 contribute to this accomplishment. Also in 2024 one of our officers, Johanna ODonnell was nominated by our board to attend the NORD summit in Washington DC. She was able to gain exposure for our organization as well as make contacts for potential benefits we might be able to offer in the future. For example, she was able to have discussions with and gain information on a free flight service for special needs patients. Additional revenue saved from this area has the potential to be applied to future support of other items such as the natural history study, medical equipment, or travel expenses for other families.