Patients with rare diseases and their families encounter a multitude of challenges in diagnosis, treatment, and care, across all countries. Consequently, various nations have developed national strategic action plans for rare diseases. The Australian Government launched the country’s first National Strategic Action Plan for Rare Diseases in February 2020 [8]. Similarly, Japan, despite its rare disease policies dating back to the 1970s, only enacted new laws to aid these patients in 2014 [9]. In our country, the “2023–2027 Rare Diseases Health Strategy Document and Action Plan” was published in 2022 to address this pressing issue [6].

Approximately 72% of all rare diseases are attributable to genetic causes [5]. Our study, when querying departments about the rare diseases they most frequently encounter, revealed that the majority were genetic diseases (Table 2). Departments frequently encountering rare diseases in daily practice (81–100%) include medical genetics, inborn metabolic diseases, and pediatric hematology, primarily dealing with genetically induced diseases and cancers. In November–December 2019, the Economist Intelligence Unit conducted a survey among 503 healthcare workers across five Asia–Pacific countries to assess their understanding of rare diseases and identify challenges within national healthcare systems [10]. Remarkably, 14% of healthcare professionals surveyed (including 10% of specialists) reported never having seen a patient with a rare disease in their careers. Contrastingly, all participants in our survey had encountered a patient with a rare disease, though it should be noted that our sample size was smaller and all participants were affiliated with a university hospital.

In our study, all participants acknowledged the difficulty of diagnosing rare diseases, with 90% indicating that this challenge significantly impacted their daily practice. This finding aligns with the Economist Intelligence Unit survey, where participants also identified diagnostic difficulty as the primary issue in rare diseases [10].

In Europe, registration systems for rare diseases have been established for various purposes, including defining the natural history and phenotypic diversity of rare diseases, improving treatment indications, devising risk stratification strategies, and developing disease-specific guidelines [1]. Consistently, 85% of our participants advocated for a distinct registration system for rare diseases.

The importance of a multidisciplinary approach in the diagnosis and management of rare diseases is well-recognized. In 2015, UD-PrOZA (Program for Undiagnosed Rare Diseases) was founded at the Ghent University Hospital in Belgium to facilitate the diagnostic process for adult patients with undiagnosed rare diseases [11]. This multidisciplinary initiative resulted in definitive diagnoses for 18% of patients. In various countries, similar single-center or multi-center multidisciplinary teams have been established, achieving a definitive diagnosis rate of up to 67% [12]. Our survey results align with these findings, with all participants advocating for a multidisciplinary approach in the management of rare diseases. However, the majority acknowledged significant challenges in translating this approach into routine clinical practice. Key criteria for the successful implementation of multidisciplinary teams include the formal establishment of the team, regular joint meetings, and the integration of joint outpatient clinic services.

Diagnosing rare diseases presents major challenges due to their low prevalence, heterogeneous clinical manifestations, and often limited awareness within the medical community. A multidisciplinary approach significantly improves diagnostic accuracy by harnessing a wide array of specialized expertise and advanced diagnostic methodologies. This model facilitates comprehensive patient evaluation through holistic assessments and regular interdisciplinary case discussions, enabling the development of personalized treatment plans tailored to the specific needs of each patient. Moreover, early and precise diagnoses, supported by continuous monitoring, contribute to better patient outcomes. In addition to improving clinical care, a multidisciplinary approach fosters advancements in medical knowledge through collaborations with research institutions and enhances education and awareness, within the medical community. It also provides critical support to patients and their families by offering genetic counseling and comprehensive psychosocial services. This collaborative framework ensures that patients with rare diseases receive optimal care while deepening the overall understanding and management of these complex conditions.

Beyond the absence of a multidisciplinary approach, other substantial challenges in diagnosing rare diseases include limited awareness and a shortage of experienced, specialized healthcare professionals. These interconnected issues highlight the critical need for a comprehensive strategy aimed at improving the diagnosis and management of rare diseases. Such a strategy should encompass raising awareness among both healthcare providers and the general public, strengthening infrastructure, to support rare disease diagnosis and care, enhancing the training and expertise of medical professionals, and establishing robust support systems for patients and families. Awareness training was among the solutions proposed by participants to improve rare disease diagnosis and treatment. For example, at the Necker-Cochin Faculty of Medicine in Paris, all third-year medical students are offered an optional 30-h training course in rare diseases, supplementing routine genetics training [13]. Elliot et al. suggested that similar courses could be implemented in Australia to aid general practitioners and other clinicians in the early diagnosis and management of rare diseases [14].

The capability of our clinic to accurately diagnose rare diseases and administer appropriate treatment was evaluated positively, with 50% rating it as good and 50% as very good, attributable to the clinic’s inherent advantages (Table 3). However, it is acknowledged that patients with rare diseases in rural areas of our country have a much lower chance of receiving timely diagnosis and treatment.

This study aimed to highlight the challenges and solutions experienced by experts dealing with rare diseases at a university hospital in Türkiye. Our study is the first of its kind conducted in Türkiye, and the expert opinions on the problems and potential solutions for rare disease patients in our country will contribute to the literature and inspire further studies with larger participant groups.

In conclusion, this study highlights significant challenges and potential solutions for the diagnosis and treatment of rare diseases in the clinical practice. It is the first study of its kind in our country, where a wide range of rare diseases are observed. Despite advances in medical technology, the most critical barriers to diagnosing, treating, and monitoring rare diseases remain inadequate laboratory infrastructure and low awareness among healthcare professionals. Addressing these challenges requires a multifaceted approach, including increasing awareness of rare diseases, enhancing medical training, strengthening R&D and production capacities, fostering multidisciplinary collaboration, and implementing preventive healthcare and supportive social policies.