Rare diseases are defined as conditions affecting fewer than 1 in 2000 individuals in any region as defined by the World Health Organization. Globally, these diseases impact approximately 300 million people, with around 50% of those affected being children. Notably, rare diseases account for 35% of deaths within the first year of life, and 30% of children with a rare disease do not survive beyond their fifth birthday.
In the Middle East and North Africa (MENA) region, an estimated 25 million individuals are affected by rare diseases, although official statistics do not exist. Cultural factors, such as high rates of consanguinity, contribute significantly to the prevalence of genetic disorders in this region. In 2021, the United Nations adopted its first resolution addressing the challenges faced by individuals living with rare diseases and their families, urging Member States to ensure access to safe and affordable health services, particularly at the primary care level. As we observe the Rare Disease Day in February, what is the current landscape for individuals living with rare diseases in the MENA region?
Globally, the journey to a diagnosis for rare disease patients is often prolonged and fraught with challenges. Delayed diagnosis is common, with patients frequently undergoing multiple consultations with specialists before receiving an accurate diagnosis. Access to treatment is further complicated by disparities between rural and urban areas, the necessity of traveling long distances, and the lack of approved medical treatments for certain rare diseases. In the MENA region, the availability of orphan drugs is a significant challenge due to their high cost, lengthy approval processes, logistical issues, and complex situations in some countries. However, patient access programs in some countries aim to alleviate these burdens. For instance, the United Arab Emirates (UAE) implemented a fast-track registration system in 2018 to expedite drug approvals for innovative and orphan drugs. Additionally, the mandatory health insurance scheme “Thiqa” covers all indicated therapies, including expensive orphan drugs, for UAE nationals.
Research on the impact of rare diseases on the quality of life for patients and their families in the MENA region is limited. Studies from other regions indicate that both patients and caregivers often face mental health issues, social isolation, and financial burdens due to out-of-pocket expenses for treatments and caregiving responsibilities. The limited knowledge about rare diseases and inadequate support further affect the psychological and emotional well-being of patients and caregivers. The rare disease patient advocacy community in the MENA region is often under-resourced, hindering its ability to effectively shape discussions, educate policymakers, and drive the successful implementation of rare disease programs. Organizations such as The MENA Organization for Rare Diseases aim to support and advocate for rare disease patients by educating and connecting healthcare providers and patients.
Research in the field of rare diseases faces several challenges due to the small, heterogeneous, and dispersed patient population, making enrollment in studies difficult. Human genomic studies are also limited by the under-representation of ethnically diverse populations, affecting the interpretability of results. Notable initiatives in Saudi Arabia include significant investments in the education sector, with the establishment of numerous universities focused on biotechnology. The MENA region is also increasingly involved in national-scale genomic data collection, which is expected to enhance representation in public genetic databases. Ensuring ethical and regulated genomic initiatives is crucial for advancing personalized medicine treatments, ultimately improving patient prognosis and quality of life for those with rare diseases.
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Addressing the challenges of rare diseases requires a multifaceted approach, including improved diagnosis and treatment, better support for patients and families, comprehensive policies, and increased research and development efforts. By raising awareness and fostering collaboration, it is possible to ensure that individuals with rare diseases receive the care and support they need, both globally and in the MENA region.
