Rare Diseases
Rare diseases are medical conditions that affect a small percentage of the population. While each rare disease may impact only a limited number of individuals, collectively, rare diseases affect millions of people worldwide. Here are some key aspects of rare diseases:
Definition & Prevalence
A disease is considered rare when it affects a small portion of the population. The definition varies by country:
USA: Fewer than 200,000 people per disease.
Europe: Less than 1 in 2,000 people.
Pakistan & Many Countries: No specific definition, but rare diseases are often undiagnosed and untreated.
Causes & Types
Most rare diseases are genetic (inherited mutations).
Some result from infections, environmental factors, or autoimmune disorders.
Examples:
Genetic Disorders: Limb-Girdle Muscular Dystrophy (LGMD), Duchenne Muscular Dystrophy, Spinal Muscular Atrophy (SMA).
Rare Cancers: Retinoblastoma, certain leukemias.
Neurological & Autoimmune Diseases: Huntington’s disease, Myasthenia Gravis.
Challenges Faced by Patients
1. Delayed Diagnosis: Many remain undiagnosed for years due to lack of awareness and testing facilities.
2. Limited Treatment Options: Few rare diseases have cures; treatment is often expensive.
3. High Medical Costs: Lack of insurance coverage and costly genetic tests make management difficult.
4. Social & Psychological Impact: Isolation, lack of understanding, and stigma are common issues.
Efforts & Awareness
Rare Disease Day (Last Day of February): A global movement to spread awareness and advocate for better policies.
Patient Organizations: Groups like Muscular Dystrophy Pakistan support research, advocacy, and patient care.
Genetic Research & Advances: Ongoing studies aim to find new therapies, including gene therapy and precision medicine.
