Advocacy Initiatives

In January of 2023, Fabry disease was presented to the Newborn Screening Committee. The decision is in subcommittee awaiting NBSAC members to approve the stakeholder’s survey to collect the data from the healthcare community to present to the DOH in 2024. 2025 Update: Waiting on subcommittee.

In May of 2025, letters of support from patients and physicians were obtained. Fabry disease will be presented to the Newborn Screening Advisory Board in June 2025.

In March of 2022, Fabry disease was presented to the GA Newborn Screening Advisory Board. A review board has been formed to discuss the possible implementation of a Fabry NBS pilot. 2025 update: Waiting on subcommittee.

In April of 2023, a MA legislative initiative introduced Fabry disease via Bill HD 314. It is now awaiting committee approval in the 2024 legislative session.

In April of 2025, an updated presentation was presented to the committee. Patient and provider support letters were also submitted and the nomination was moved to the next meeting later in the year.

In June 2023, Fabry disease was presented to the Newborn Screening Committee and now needs a voting physician member to submit the condition for consideration to the NBSAC.

Bill SC S0525 introduced February 9, 2023 by Senator Turner. Bill was passed in 2024 and will be implemented in Fall 2025.

In January 2023, Fabry disease was accepted into the subcommittee. The meeting has been completed and moving forward to evidence review for potential pilot study.

The presentation is in process and will need a local physician to co-sign the nomination form.