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World Rare Disease Day 2020, Are they more common than you think?Scripted by CEO Trilok Singh. The 'World Rare Disease Day' is observed every year on the last day of February, It is also known as "Orphan Disease".
The long-term vision of this day over the next decade is increased equity for people living with a rare disease and their families. On this day we call for action for people living with a rare disease to have equal opportunities to realise their potential for participation in family, work and social life.
However, Rare diseases (RDs), an emerging global public health priority, it require an evidence based estimate of the global point prevalence to inform public policy.
According to Indian Society for Clinical Research (ISCR), about 70 million in India and 350 million people around the globe are suffering from rare diseases.
Following the official document, "1 in 20 Indians is affected by a RDs". There are more than 7,000 distinct types of Rare and Genetic diseases and it has impacted more people than Cancer and AIDS combined and most of which are progressive, life-threatening, and chronically debilitating conditions and 80 percent of these rare diseases have a genetic origin.
Equity in practice means meeting people's specific needs and eliminating barriers preventing their full participation in society.
For people living with a rare disease equity means social opportunity, equitable access to health and social care, diagnosis and treatment.
It also presents a countless number of challenges for patients and their family members, including the time it takes to obtain a correct diagnosis.
However, 'Cancer' and 'heart disease' get plenty of several media attention, the impact and reach of rare diseases vary significantly. One of the rare diseases may affect only a handful of patients, while another disease could affect many. At times, 'RDs' are difficult to diagnose because of its nonspecific symptoms and because they're so unusual.
While there is no universal meaning of RDs, the assumption of RDs in the contemporary political and legislative framework is closely linked to a meaning according to point prevalence, and existing definitions are explicitly or implicitly based on a prevalence threshold.
Further, The Council of Ministers of the European Union (EU), has also suggested that between 6 and 8 percent of the European population could be affected by a RDs in the course of their lives.
Although, RDs are numerous, heterogeneous in nature, and geographically disparate.
Few are preventable or curable, most are chronic and many result in early death. Meanwhile, Dr. Mayuri.K.S., Consultant Microbiologist and Infection Control Officer, SPARSH Hospital, Bengaluru shared several types of rare diseases such as Acanthamoeba keratitis, Creutzfeldt-Jakob disease, Cysticercosis, Mucormycosis, Naegleriasis, Nocardiosis, Rat-bite fever and Cat-scratch disease in the following:
Acanthamoeba keratitis
It is a vision-threatening rare disease which causes parasitic infection and can be seen most often in contact lens wearers.
It is found ubiquitously in soil and water and can cause infections of the skin, eyes, and central nervous system. Further, This infection of the cornea is difficult to treat with conventional medications. It may lead to permanent visual impairment and blindness in some cases because of damage to the clear portion of the front of the eye called the cornea or through damage to other structures important to one's vision.
Creutzfeldt-Jakob disease (CJD)
It is also known as "Classic Creutzfeldt-Jakob disease", A fatal degenerative brain disorder which is believed to be caused by a protein known as prions.
The early symptoms include visual disturbances, memory problems, behavioural changes and also poor coordination. The later symptoms include weakness, involuntary movements, blindness, dementia and coma. About 70 percent of people die within a year of diagnosis as there is no specific treatment for CJD.
Cysticercosis
Cysticercosis is also a rare infectious disease. It is a tissue infection which is caused by the tapeworm present in the pork. It is known to cause neurocysticercosis which affects the brain and can cause neurological symptoms.
Individuals suffering from this rare disease may have few or no symptoms for years, the report attributed. Moreover, It is usually acquired by eating contaminated food. One of the major sources is said to be uncooked vegetables. Drinking water contaminated by tapeworm eggs from human feces is also one of the main reasons to cause the infection.
Mucormycosis
It is caused by fungi in the order Mucorales.
And they are generally the species in the Mucor, Rhizopus, Absidia and Cunninghamella. The disease is often characterized by hyphae growing in and around blood vessels and can be potentially life-threatening in diabetic or severely immune-compromised individuals.
Mucormycosis and zygomycosis are sometimes used interchangeably.
It frequently infects the sinuses and the brain. While infection of the oral cavity or brain is the most common form of mucormycosis and it enters the body through a cut in the skin.
The fungus can also infect other body areas such as the gastrointestinal tract, other organ systems and in rare cases, the maxilla may be affected by mucormycosis.
Fungal infections are usually prevented by the rich blood vessel supply of maxillofacial areas. Although more virulent fungi responsible for mucormycosis can often overcome this difficulty.
Naegleriasis
It is also known as "Primary Amoebic Meningoencephalitis" (PAM).
This rare disease is an almost invariably fatal infection of the brain by the free-living unicellular eukaryote Naegleria fowleri. Symptoms are meningitis which includes headache, fever, nausea, vomiting, a stiff neck, confusion, hallucinations and seizures. Symptoms progress rapidly over five days and death usually results within one-to-two weeks of symptoms.
Nocardiosis
Nocardiosis is an infectious disease affecting either systemic nocardiosis which is the whole body or pulmonary nocardiosis which are the human lungs. It is caused due to an infection by a bacterium of the genus Nocardia, most commonly Nocardia asteroides or Nocardia brasiliensis.
It is most commonly seen in adult males, especially those with a weak immune system.
Patients with brain Nocardia infection, mortality exceeds 80%, in other forms, mortality is 50%, even with appropriate therapy.