Inherited metabolic diseases:Rare but United in Arms!

Description

The challenges facing patients with inherited metabolic diseases (IMDs) in Greece are many and formidable and are highlighted due to the impact of Covid-19. More than 20% of inherited rare diseases are due to IMDs which are individually rare but in total 1350(!) and unknown to most including health professionals . The problems of delayed or incorrect diagnosis due to lack of awareness of these disorders and inadequate specialized services for diagnosis and follow up are accentuated by the limited number of metabolic specialists in Greece. Educational seminars are thus a priority of KRIKOS ZOIS for increasing awareness of these disorders as well as providing specific information, advice and support to affected individuals and their families and facilitating networking of families with similar disorders. This year’s Rare Disease Day event “Inherited Metabolic Diseases:Rare but United in Arms!» was due to take place on 13th March 2020 but had to be cancelled because of the Covid-19 pandemic. Our 2021 RARE DISEASE DAY event will be a virtual two day event ( 6-7 March) focusing on the pivotal therapeutic role of diet in several categories of IMD’s, promising clinical trials in progress including gene therapies for a number of IMDs giving hope for eventual cures, enzyme replacement therapy for PKU patients now also in Greece, disruption in care due to Covid-19 with difficulties in securing Orphan drugs, everyday challenges for the IMD patient requiring expert guidance, the journey of an adult patient with Gaucher disease, the journey of a sibling of a patient with tyrosinemia I, the psychological impact of Covid -19 and adapting to the new reality, current status quo of policies for rare disorders in Greece and the rest of Europe, the recent disability laws for rare disorders and social approaches to patients with chronic diseases via volunteerism and solidarity. 

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