Abstract Background Rare diseases affect small populations but present unique challenges in access to healthcare and social support. The needs of patients and their caregivers extend beyond medical treatments, impacting various aspects of their lives. This study provides a narrative overview of these diverse needs experienced by patients and caregivers. Methods A rapid literature review was conducted in PubMed and Embase, including studies assessing needs in rare diseases. Following Cochrane guidelines, two researchers screened 1.419 articles (74%) double-blinded, followed by a single researcher screening the remaining 509 articles (26%). Two researchers collaboratively extracted data into an extraction table. To validate and complement these findings, two stakeholder consultations were held with representatives from patient organisations, healthcare providers, the pharmaceutical industry, and policymakers. Results A total of 272 articles were included in the review, and respectively 25 and 33 participants participated in the consultations. The identified needs were categorized into two levels: (i) patient needs, and (ii) caregiver needs, along with one overarching transversal need: (iii) information needs. Patient needs spanned health, healthcare, and social dimensions. Psychological, mental, and emotional health were frequently highlighted, but also autonomy emerged as a significant need. Healthcare needs included gaps in timely and accurate diagnoses, underscoring the need for more awareness among healthcare providers and appropriate diagnostic tools. Coordinated multidisciplinary care and accessibility to care and treatments were also identified as essential, yet lacking. Socially, patients experienced unmet needs in support networks, workplace inclusion, education, and financial stability. Caregivers’ needs were related to physical and mental health, social connection, and financial support. Information needs, affecting both levels and even extending to healthcare providers, underscored the demand for more comprehensive, accessible information on rare diseases, treatment options, healthcare services, and available social support. Conclusion This study underscores the complex needs of persons living with rare diseases and their caregivers, advocating for a holistic approach in healthcare policy. Beyond medical interventions, addressing timely diagnosis, coordinated care, and psychological support are essential. Policymakers must consider these multifaceted needs to enhance patient outcomes and foster an inclusive, patient-centred healthcare framework.