Rare Disease Day is an annual worldwide event organised by EURORDIS every last day of February. It brings together patients, families, carers, medical professionals, policy makers and members of the public to raise awareness and solidarity.
The Ministry of Health took this opportunity to organize its annual presentation of the work on the National Plan for Rare Diseases at the da Vinci Forum.
Dr Jos Even, who is chairman of the National Committee for Rare Diseases, but also Vice President of ALAN, introduced the national plan and presented the composition, role and operating mode of the National Committee for Rare Diseases. Then, Francesca Poloni, coordinator of the National Plan for Rare Diseases at the Ministry of Health, provided an update on the ongoing projects and underlined the priorities of the plan, in particular the setting up of the orientation unit and the Helpline, as well as the rare diseases survey.
The work done on the survey was presented by Antoni Montserrat, a member of the ALAN Administrative Board and Guy Weber, Head of the Epidemiology and Statistics Department at the Ministry of Health. The first step of the survey was the creation of an inventory of rare diseases in the country. The working group has identified 804 different diseases in Luxembourg so far, through the questionnaire which they sent to various Luxembourgish institutions.
Then Dr Marguerite Leches presented the development of the orientation guide for people living with a rare disease. The guide aims to improve access to information and steer people in the right direction, without replacing a direct contact person, who will be integrated into the Helpline. The latter was presented by Gwenn Al Hindy-Crohin, Head of ALAN's Socio-Therapeutic Counselling Service. The idea of this first line of support is to ensure continuous support via phone or email for defined time slots and provide concrete information, a place to be heard and guidance towards the right competent services. The job profile for the Helpline has been created, the budget has been programmed for 4 years and a decision tree to guide people has been developed.
The last part of the presentation was dedicated to testimonials. Olivier Lepanto from ALLM
(Association luxembourgoise de lutte contre la mucoviscidose), Jean-Marc Scheer from Wäertvollt Liewen
and Luis Madeira shared their experiences.