INHERITED METABOLIC DISEASE:RARE BUT UNITED IN ARMS!
14 March 2020
Hosted by KRIKOS ZOIS (LIFE-LINK) SOCIETY FOR PATIENTS AND FRIENDS OF PATIENTS WITH INHERITED METABOLIC DISEASE
KRIKOS ZOIS seminar is dedicated to Rare Disease Day. Inherited metabolic diseases (IMDs) are individually rare but altogether comprise nearly 20% of rare diseases. IMDs besides being rare, are unknown to most, physicians included. The metabolic community in Greece has to contend with a variety of problems which have been highlighted due to the ongoing economic crisis. The problems of delayed diagnosis or incorrect diagnosis due to lack of awareness of these disorders are accentuated by the limited number of metabolic specialists in Greece.
The transition of patients to adult metabolic specialists is an added challenge. Thus, a priority of KRIKOS ZOIS is the organizing and hosting of educational seminars for affected families and for health professionals and the public sector in order to increase awareness of problems facing these patients and to update with information pertaining to the tremendous breakthroughs in diagnosis and therapies.
The seminar program includes sessions highlighting the unique therapeutic role of diet in some categories of IMDs e.g. PKU with specific guidelines, the effectiveness of the ketogenic diet in some IMDs, problems with dietary transition from childhood to adulthood, bone sequelae in IMDs, progress in the treatment of IMDs and ongoing clinical trials, access to Orphan drugs in times of economic duress, the challenges facing patients with IMDs and the need for specialized support , the current status of the Greek Institute of Child Health, the journey of a patient with Gaucher’s disease, the journey of a parent of a patient with Tyrosinemia type 1, exculpation of the chronic disease, Rare disease and Greek disability laws and finally, volunteerism as a means of dealing with social aspects of individuals with chronic disease.
The event will be covered by live streaming with the possibility of on line questions to speakers. Presentations will be available on our site www.krikoszois.gr in you tube form.