Today is Rare Disease Day. Rare diseases are defined by most organizations as those diseases that have a low prevalence. While EDS-HT is considered a rare disease, there are many recent studies that suggest a higher prevalence of this condition and possibility of a spectrum of severity leading to heterogeneous presentation making diagnosis difficult. It is possible that the disease process underlying the joint hypermobility syndrome and EDS-HT are same or related. Unless there is more awareness about this disease among people and the medical community, diagnosis and research into pathogenesis and management will not attract attention or funding. This ignorance hides underneath considerable morbidity – undiagnosed and untreated.
To me, the list of rare diseases is not important, the mind-set is. The willingness and humility to accept that our finite knowledge is limited, and there are diseases and anomalous presentations that result in lack of diagnosis or delayed diagnosis. Medical help is a part of social justice and like legal justice, a diagnosis delayed is a diagnosis denied. “It is all in your mind” must not be a default response or even a thought not spoken out aloud.
Please visit http://ift.tt/wjKoMz for more information on Rare Disease Day.
Rare Diseases umbrella organizations in India are:
Indian Organization for Rare Diseases (IORD)
Plot 397, #22b
Jubilee Hills, Hyderabad 500033, India
Organization for Rare Diseases India (ORDI)
Phone: +91 8892 555 000 – Rare Disease Care Center
Foundation for Research on Rare Diseases and Disorders
C252 Kandasamy Salai
Periyar Nagar, Chennai 600 082, India
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