Rare diseases, despite their name, impact millions of lives globally. The complexity and uniqueness of these diseases demand focused attention and specialized care. This blog post explores the landscape of rare diseases, with a particular focus on initiatives in the United States and the prevalence of certain diseases in Nepal.
Rare Diseases: An Overview
Genetic and Rare Diseases (GARD) Program in the USA
The National Institute of Health (NIH) in the United States runs the Genetic and Rare Diseases (GARD) program, which plays a crucial role in providing comprehensive information about rare diseases. This initiative focuses on:
- Diagnosis and Clinical Information: Simplified and accessible information on various rare diseases.
- Support Systems: Technical, emotional, and social support for individuals and families affected by rare diseases.
- Guidance on Management: Resources and guidance for managing and handling rare diseases.
A disease is classified as rare in the USA if it affects fewer than 200,000 people. There are an estimated 7,000 different rare diseases affecting approximately 30 million Americans. These diseases are not only rare due to the number of people affected but also because of their genetic and pathological intricacies. Many rare diseases stem from unexplained genetic or chromosomal changes. Interestingly, some infectious diseases, particularly those of tropical origin, are also classified as rare in the USA due to their limited prevalence, despite having well-understood mechanisms and management protocols.
Prevalence of Tropical Diseases in Nepal
Many tropical diseases of significant public health concern in Nepal are listed as rare diseases in international registries in Europe and the USA. Marginalized communities in Nepal continue to struggle with diseases that have been eradicated in many other countries. Examples of such diseases include leprosy, lymphatic filariasis, kala-azar, dengue, rabies, and snakebite envenoming.
Nepal has recently faced a significant surge in dengue fever cases, particularly during the rainy season. Despite widespread awareness and treatment facilities, the disease has spread extensively from the Terai region to the hilly and mountainous parts of the country.
In 2018/19, Nepal conducted its first National TB Prevalence Survey, revealing alarming data:
- Prevalence: 416 per 100,000 people, with about 117,000 individuals living with TB.
- Incidence: 245 per 100,000 people, with an estimated 69,000 new cases.
- Mortality: 3.1 times higher than previous estimates.
The high infectivity of TB, combined with increased public movement, poses a significant challenge to eliminating TB in Nepal. Besides TB, diseases like malaria, dengue, rabies, and snakebites are significant public health concerns in Nepal. These are classified as neglected tropical diseases and are often registered under rare diseases.
Solutions and Way Forward
Tackling Infective Rare Diseases
- New Medicines and Active Surveillance: The availability of new medications and active case surveillance are critical in controlling infectious diseases.
- Technology and Education: Utilizing technology and spreading awareness to reduce disease spread are essential strategies.
- Involving Communities: Adopting an integrated approach involving multiple stakeholders and engaging various communities is crucial. For example, sickle cell disease affects multiple generations of specific ethnic groups in the Terai region of Nepal. To combat this disease, the Ministry of Health and central government should implement a national surveillance and prevention program, while local governments should run awareness campaigns. Communities should also promote genetic testing for sickle cell disease before marriage and childbearing.
Addressing Genetic Rare Diseases
- Advanced Genetic Research: High-end genetic research labs and molecular research are crucial for understanding and managing genetic rare diseases.
- Institutional Collaboration: Given Nepal's limited resources, collaboration at the institutional level is necessary to tackle these challenges.
Importance of Disease Registry
- Rapid Development of Disease Registry: Tracking and reporting cases to the national registry is vital for early diagnosis and management.
- Implementation of Treatment Options: Immediate application of the best available treatment options is crucial.
- National Policies: Specific national policies need to be formulated and implemented swiftly. For instance, a malaria control program should start by identifying high numbers of malaria cases, followed by targeted interventions. Similarly, rabies control can be managed through vaccination campaigns and zoonotic spread awareness.
Conclusion
Addressing rare diseases requires a multifaceted approach, combining advanced research, public health initiatives, and international collaboration. By developing robust disease registries and implementing effective national policies, we can make significant strides in managing and potentially eradicating these conditions.
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