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Shedding light on rare diseases: understanding treatment
26 Feb 2024 | Words by Star People

Rare diseases encompass a wide array of disorders, affecting fewer than 1 in 2,000 people – amounting to roughly 300 million globally, which is 3.5-5.9% of the population.

72% of rare diseases are genetic, and despite their rarity individually, collectively, they impact a significant portion of the population. From genetic anomalies to autoimmune disorders, the spectrum is vast and complex, often posing challenges in diagnosis and treatment.

Diagnosis may be delayed due to a lack of scientific knowledge and quality information, and challenges around access to appropriate quality healthcare can make access to treatment and care difficult in some parts of the world.

Misdiagnosis is common, owing to the diversity of disorders and symptoms which may initially be attributed to a more common condition. These symptoms may also differ from disease to disease, as well as from patient to patient.

Diagnosis of a rare disease typically involves a multidisciplinary approach, with specialists collaborating to pinpoint the condition accurately. Genetic testing, imaging studies, and comprehensive medical histories are often employed to reach a conclusive diagnosis.

Once diagnosed, treatment plans are tailored to each patient’s unique needs. This personalised approach acknowledges the diverse nature of rare diseases and the variability in symptoms and severity among individuals.

Depending on the condition, treatment may involve medication to manage symptoms, physical therapy to improve mobility, or specialised interventions such as gene therapy or enzyme replacement therapy.

Access to treatment is facilitated through specialised centres of expertise, where clinicians with specific knowledge of rare diseases work closely with patients to optimise care. These centres serve as hubs for research, clinical trials, and the dissemination of best practices, ensuring that patients receive the most advanced and effective treatments available.

Despite the strides made in recent years, challenges persist in the treatment of rare diseases. Limited awareness, financial constraints, and regulatory hurdles can hinder access to care for those in need. Advocacy efforts by patient organisations and policymakers aim to address these barriers, campaigning for increased funding, improved access to innovative therapies, and greater collaboration among stakeholders.

In addition to medical interventions, holistic support is essential for individuals and families navigating life with a rare disease. Psychosocial support, education, and community resources play a vital role in enhancing quality of life and fostering resilience in the face of adversity.

Rare Disease Day serves as a crucial reminder of the millions worldwide battling conditions with fewer treatment options than more common conditions.  

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