Objectives: This policy study aims to identify the gaps alongside the patient journey of rare disease (RD) patients in Egypt, and to build a roadmap for the enhancement of RD management, as well as to maximize the access of RD patients to treatment and support. Methodology: An Expert panel meeting was conducted with RD physicians, Key decision makers, Non-Governmental Organizations, payers, patients and their families. The meeting was moderated by an external facilitator to gather all insights and opinions about the objectives as well as building the roadmap milestones, focusing on 3 RDs: myelofibrosis, cystinosis, and tuberous-sclerosis-complex (TSC). Results: A consensus on the following call to action milestones was established: 1- Create a list of RDs in Egypt estimating their respective prevalence. 2- Create a central hub of data and a research center connecting RD units allover Egypt. 3- Apply unique patient ID in all RD units to avoid duplications. 4- Initiate a national registry program that connects the RD units. 5- Initiate a screening program for patients at risk (focused screening) starting with programs for pregnant mothers / high risk mothers/ mothers with family history. As well as prenatal diagnosis program. 6- Build National Egyptian guidelines for RD with special focus on multidisciplinary management 7- Add the necessary RD drugs to the public-sector formulary. 8- Build a national office for RDs responsible for implementing all the above-mentioned points. Conclusion: Achieving the milestones of the RD roadmap needs more compelling actions from policy makers, public authorities, industry representatives, and health professionals about the seriousness and importance of treating RDs in Egypt. Great efforts are still needed from the governmental sector to alleviate the obstacles across the entire patients’ journey mainly the financial burden aspect, the availability of medications and most importantly the creation of the RD committee.