How to Help Rare Disorders Affected Population: Diagnosis and Management

Human beings are the result of a great many complicated procedures that shape their lives from the snapshot of origination until their passing. More often than not these procedures go ahead without a glitch, yet at times they go astray as Human creatures shape their lives from the minute they are conceived until their final gasp (in between they are diagnosed with a lot of diseases) and results into a portion of the rarest and strangest issue that burden the new born babies as well as adults as some genes have a strong command over the life. Some disorders start even before their birth.

The World Health Organization (WHO) defined rare disorder as debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. A birth deformity in which an individual has more than expected number of appendages, or an ailment in which the feet of the individual face in reverse. In India, such individuals are either viewed as a little exemplification of God himself or simply evil. Known about ghost with feet turned in reverse? Indeed, these are only some extremely rarest, deadliest, and most grisly hereditary issue that have ever distressed humankind are Ectrodactyly (lobster claw hand or split hand malformation), Polymelia, Neurofibromatosis, Diprosopus, Anencephaly, Feet facing backwards (well-known case of Chinese woman - Wang Fang), Cutaneous horn, Harlequin ichthyosis, Cyclopia, Fibrodysplasia Ossificans Progressiva (replaces muscles with Bone), Epidermolysis Bullosa (destroys skin), Hydrocephalus (fills skull with fluid), Proteus Syndrome (causes unchecked cell growth), Progeria (early aging), Epidermodysplasia Verruciformis (tree man syndrome), Epidermolysis (Butterfly Disease), Ectopia cordis (heart outside the body – a notable instance of Christopher Wall, who could live and work appropriately with the condition for an inconceivable 33 years),Uner Tan syndrome, Lesch-Nyhan syndrome, Hypohidrotic Ectodermal Dysplasia, Lamellar ichthyosis, fabry disease, Early Infantile Epileptic Encephalopathy, etc. There are around 7,000 diverse uncommon illnesses and disorders disturbing in excess of 300 million people around the world.

A few people with these disorders carry on with a typical life and some kick the bucket inside a half hour of their birth. The real burden of the Rare Disorders is to a great extent difficult to evaluate. However, it has been suggested that 1 per 1000 population is suffering from rare disorder and around 5% Indian population is suffering from rare disorders (1). Country specific information on rare disorders are likewise powerless and distributed information is rare in light of the fact that consideration and assets are engaged to all the more broadly common and obvious vaccine preventable childhood infections, nutrition related deficiencies, and neonatal issues, and so on. Moreover, lack of data about these rare disorders has neglected to perceive the serious circumstance, obstructed strategy making and investment.

Thus, there is a basic need of network based epidemiological investigations for arranging open and suitable need base services. Combined with this, developmental research is the need of hour to know the community insight in regards to rare disorders. Albeit medicinal science is a quick changing field and indeed, the entire idea of diagnosing and treating a patient is altering quickly in any case, the identification of rare disorders is not dictated by routine demonstrative modalities and treatment can be started immediately unlike fabry disease which can be diagnosed through absent or lower level of Alpha – GAL A enzyme assay in the blood and enzyme replacement therapy can be initiated. Rare disorders are gaining attention due to increased awareness and availability of certified clinics (2). Despite great advancement in research for rare disorders, inconsistencies in rare disorders and research capacity, especially in low and middle income societies stay, bringing up the issue of how to empower rare disorder research and joint effort that rewards the developing societies. Aside from some extremely reassuring indications of advancement in this field like researchers have built up an arrangement of computational tools that determine the reason for Early Infantile Epileptic Encephalopathy. Therefore, Public as well as non-profit foundation-sponsored network should also join hands with the Public institutions in facilitating research and access to specialized care for patients with Rare disorders. Nonetheless, volume of patients in certified clinics has increased but many rare disorders patients still do not attend specialty clinics and/or travel a significant distance for care (2).

In any case, still it is essential as a State/Country to see that there are things that Government can do, that parents / guardians can do, and that organizations can do to make quantifiable modifications for the rare disorder affected population. As respects the significance of timings to an activity to battle rare disorders it is noted, "We can pay now else we need to pay vigorously later. Notwithstanding when we run over about some energizing conceivable outcomes in the realm of rare disorders research, finding and management, the situation in Low and middle income nations including India does not look exceptionally reassuring. The reasons might be:

I) Health services experience the ill effects of fundamental issues restricting the proficient utilization of assets,

ii) Government health care delivery is feeble as far as untrained/less prepared staff and

iii) over all support for rare disorders exploration is deficient. It is additionally aggravated by restricted limit with regards to public health research and powerless surveillance frameworks prompt genuine data holes, which hinder strategy and endanger programs and furthermore specialists may not generally get the advantage of equipped analysts and heaps of information can go unpublished for need of sensible measurable skill. The scarcity of funds for rare disorders and if funds are available then not effectively used because of the deficiency of suitably prepared work force for public health delivery. Henceforth there is an earnest need of

I) rare disorders operational research to comprehend the low down of these conditions in our setting,

ii) suitable training of Public Health workforce,

iii) enhanced Health management and data framework,

iv) incorporation of preventive/public health and therapeutic services,

v) framing rare disorders national policy, and

vi) a nation/state savvy registry ought to be produced for rare disorders. In India, rare disorders are universal but diagnostic, care and treatment facilities are not. Hence, still an ounce of prevention is worth a pound of cure. These measures really would help our nation from crippling problem of rare disorders. This requires collective wisdom, intra and inter-sectoral convergence and cross-learning. Civil society organisations (CSOs) and community based Organisations (CBOs) can help Government in diagnosis and management of rare disorders.