Rare diseases, also known as orphan diseases, are medical ailments that impact fewer people in the community compared to other prevalent illnesses that often encountered in the population.
Due to rare occurrences rare diseases are defined with respect to the prevalence found in the population and varies in the various geographic areas. In the United States, a condition is considered rare if it affects fewer than 200,000 people whereas in Europe the rare disease status is given provided the disease affects less than 1 in 2,000 people. In India, a condition is considered rare if it affects fewer than 1 in 5,000 individuals.
Some uncommon diseases, at times, are more prevalent in certain demographics or geographic regions. Due to their low prevalence, rare diseases are frequently challenging to identify and cure. They may result from a mix of environmental causes, genetic alterations, or both. Numerous uncommon diseases are genetic disorders, meaning that abnormalities in a person’s DNA are the cause of them. As of today, more than 7000 orphan diseases are known to exist. Few of the rare diseases are diagnosed at birth such as certain viral illnesses, birth defects, and malignancies. Few of the other rare illnesses that are screened during infancy are Huntington’s disease, Duchenne muscular dystrophy, Ehlers-Danlos syndrome, amyotrophic lateral sclerosis (ALS), Progeria, cystic fibrosis.
Rare or orphan diseases are difficult to diagnose due to their low prevalence and lack of awareness among healthcare practitioners. Advances in medical research, technology, and genetic testing, have enhanced the ability to identify and diagnose rare diseases.
Few steps can help diagnose rare diseases in the community. These include documenting complete health history and physical assessment, patient’s symptom checklist, background information, and other pertinent aspects and consultation with specialists such as geneticists, neurologists, immunologists, or other relevant experts. Genetic screening, including DNA sequencing, gene panels, and whole exome or genome sequencing, are frequently used. Other laboratory and biochemical investigations are as important. Medical imaging such as X-rays, CT scans, MRIs, and ultrasounds can aid in the visualization of structural abnormalities or afflicted organs linked with the rare illness. Tissue sampling or biopsy to investigate afflicted tissues or organs at a microscopic level; collaboration on research; or sending patients to specialized centres or research organisations for additional examination are beneficial.
The following are some of the major difficulties in treating rare diseases:
1. Limited Scientific knowledge: Many rare diseases are poorly understood, and scientific information about their underlying origins, prognosis, and effective treatment options is scarce. This knowledge gap makes developing targeted medicines for rare diseases difficult.
2. Diagnostic lags and misdiagnosis: Due to their rarity and a lack of awareness among healthcare practitioners, rare diseases are frequently difficult to appropriately identify and diagnose. Patients may face multiple misdiagnoses and delays in accessing proper therapy, resulting in disease progression and poorer results.
3. Less patient population: Due to the small number of people affected by any rare disease, it is difficult to conduct clinical studies and collect enough data to evaluate the safety and efficacy of possible treatments. It also impedes the creation of meaningful statistical analysis and makes attracting financing for research and development of orphan drugs to treat rare diseases more difficult.
4. Expensive treatment: Developing orphan drugs to treat rare diseases is expensive and not economically viable for pharmaceutical drug manufacturers. This is the reason, the regulatory authorities provide certain incentives and schemes to the drug manufacturers to develop orphan drugs to treat rare diseases.
Preventing and controlling rare diseases necessitates a multifaceted approach including a wide range of stakeholders, including healthcare professionals, researchers, pharmaceutical manufacturers, legislators, and patient advocacy organisations.
Here are some methods for preventing and controlling rare diseases:
1. Improving understanding and education: Raising awareness about rare diseases among healthcare professionals, the general public, and policymakers is critical. It should be accompanied by early symptom recognition, accurate diagnosis, and appropriate referral to specialized centres for further examination and treatment.
2. Enhanced diagnostic capacities: Using sophisticated technologies such as genetic testing and biomarker identification to improve diagnostic capacities can aid in the early and accurate diagnosis of rare diseases. This necessitates investments in research, healthcare professional training, and the establishment of specialized diagnostic centres.
3. Research and Development: Increased funding and support for rare disease research is critical for expanding scientific understanding, identifying novel therapeutic targets, and developing successful medicines. Governments, philanthropic organisations, and commercial companies can all play an important role in funding rare disease research and providing incentives for developing orphan drugs for rare diseases.
4. Orphan drug development and regulatory incentives: To encourage the development of orphan drugs for rare diseases, governments can provide quicker approval processes to entice pharmaceutical corporations to participate in rare disease research and medication development.
5. Patient advocacy and support: Collaboration with patient advocacy organisations are critical in campaigning for the needs of people with rare diseases, promoting awareness, and offering support networks.
The methods for preventing and treating rare diseases shall differ based on its prevalence, geographic areas and its underlying causes. Political will is an important aspect as it frames the state health policy, incentives and taxation structures for the healthcare industry as well as drug prices. Therefore, to address the special difficulties presented by each rare disease, a customized and multifaceted approach is necessary.
