This report shares powerful testimonials from patients living with one or more rare diseases that underscore the magnitude and complexity of the true needs in the rare disease community in Pennsylvania. Their individual stories illustrate perseverance, strength and resolve. Notably, the life stories of these individuals reveal common challenges, often monumental, associated with inadequate availability of critical resources, programs and support. In order to understand these needs, the Council has developed and will administer a rare disease community needs assessment survey – the first of its kind in the nation.
The Council is prepared to delve much deeper into analysis to generate greater confidence in the identification of the incidence and prevalence of rare diseases in Pennsylvania. The preliminary data provides a snapshot based on diagnoses present upon discharge after hospitalization in a given year and rare disease claims filed on behalf of state Medicaid beneficiaries.
The Council’s resolve to work toward making Pennsylvania a national leader in transforming the lives of those affected by rare diseases has been reflected by numerous states modeling the efforts of this Council in Pennsylvania. This Council’s members are proudly representing themselves across the Commonwealth and across the nation.