Rare #Many #Strong #Proud
There is no precise definition of RARE DISEASE. WHO defines a disease to be rare if it affects 1 or less per 1000 population. However, European definition for rare disease is, when it affects less than 1 in 2000 people. Considering the population of India the suggested threshold for India for a disease to be defined as rare is 1 in 10,000.
There are over 300 million people living with one or more of over 7000 identified rare diseases around the world. Each rare disease may only affect a handful of people, scattered around the world, but they add up to a formidable number. Rare diseases currently affect 3.5% – 5.9% of the population worldwide. 72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative and roughly 70% of those genetic rare diseases start in early childhood.
According to an estimate, about a third of rare diseases are due to some Neutological disorders, eg. Antibody mediated encephalitis, ALS, Ataxia telangiectasia, Ataxia with occulomotor apraxia, Autosomal dominant Leucodystrophies, BMD, Benign essential blepharospasm, Brown Sequard syndrome, CADASIL, Chanelopathies, CMTs, Congenital Myasthenic syndrome, Dermatomyositis, Distal Myopathies, Dopa resrponsive dystonia, Episodic ataxias, Friedreich ataxia, Familial hemiplegic migraine, Fronto-temporal dementia, GBS, Hereditary spastic paraparesis, Huntington’s Disease, Inborn errors of metabolism, Joubert syndrome, Lambert eaton syndrome, Leucodystrophies, LGMDs, Mitochondrial disorders, Myasthenia Graves, Marinesco sjogren Syndrome, Meige Syndrome, Meralgia Paresthetica, Miller-Fischer Syndrome, MSA, Myotonia congenita, Myotonic dystrophy, Narcolepsy, NBIA, Neuroblastoma, Neurofibromatosis, NMOSD, Paroxysmal dyskinesias, Post polio syndrome, SCAs, Spastic paraplegia, Status epilepticus, Wilson Disease etc. to name a few. Hence the role of Neurologists cannot be over emphasised in the precise diagnosis and appropriate management of these conditions.
Rare diseases are characterised by a broad range of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Varied clinical presentation and lack of scientific knowledge often lead to misdiagnosis. Lack of treatment/cure further adds to the woes.
Rare Disease Day takes place on the last day of February each year, a month with rare number of days. Rare Disease Day raises awareness for the 300 million people living with rare diseases around the world and their families and carers. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
The long-term cause of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.
“Let’s be a part of this global noble cause…..”