DEN-I, the Luxembourg Association of Marfan syndrome, organised on Saturday 23 March 2019 its annual scientific day in Luxembourg. The ABSM was invited to participate in this day during which the project 101 genomes dedicated to Marfan syndrome was presented to patients members of the Luxembourg Association as well as to the medical staff who follow patients with the syndrome of Marfan in Luxembourg. At the end of the day, DEN-I marked its willingness to contribute and support the 101 genomes project dedicated to Marfan syndrome.
At the origin of the participation to this scientific day in Luxembourg, there is first of all the meeting of Ella, 14 years old, and her parents Denis and Nadine during the permanence organized by the ABSM during the multidisciplinary days of the UCL. Then there is Ella's reading of the special edition of the "Le ". Heart and hand » of the ABSM dedicated to the project 101 genomes dedicated to Marfan syndrome which convinced her to ask the Luxembourg Association, DEN-I, to support this project. Ella's support and enthusiasm mean a great deal to Romain and Ludivine and it is with joy that they responded to the invitation of DEN-I.
The day was scheduled to begin with a presentation by Professor Bart Loeys of three connective tissue diseases: Marfan, Loeys-Dietz and Ehlers Danlos. Unfortunately, Professor Bart Loeys had to be hospitalized the day before the conference and he had to be replaced at short notice by the President of the ABSM, Mrs. Dushka Peyra! On the basis of the documentation prepared by Professor Loeys, Dushka gave a brilliant presentation based on her double experience as a paediatrician and patient representative. In particular, Dushka drew the audience's attention to the signs to which paediatricians or general practitioners must pay attention in order to detect Marfan syndrome as early as possible.
Romain had the opportunity to present the action of Fondation 101 Génomes and the 101 Genomes Project dedicated to Marfan syndrome. Following this presentation, a rich and dynamic question-and-answer session took place with an informed and curious audience that allowed for a detailed discussion of the Project.
Professor Klaus Kallenbach, a German cardio-geeneticist (cardiac surgeon at the INCCI, Centre Marfan Luxembourg), based in Luxembourg, in particular with the aim of establishing a multidisciplinary consultation for patients with Marfan syndrome, spoke about his experience in aortic surgery. Professor Kallenbach's presentation was both very technical and very human! This impressed the audience very much. He began by evoking the major issues related to Marfan syndrome in general and then focused his presentation on the description of the accompaniment of one of his young patients suffering from the syndrome from the announcement of her pregnancy to the birth of the child. The young mother and her baby were both present in the room, which gave rise to moving exchanges at the end of the presentation.
Doctors Jean Beissel (cardiologist at the CHL, vice-president of the association den i asbl syndrome de Marfan Luxembourg) and Fernand Pauly (Pediatrician in functional re-education and rehabilitation, member of the committee PNMR Plan National Maladies Rares au Luxembourg) closed the scientific discussions.
At the end of the conference, the President of the Luxembourg association, Denis Garzaro, announced that his association had decided to actively support and participate in the 101 Genomes Project dedicated to Marfan syndrome by joining a "...". Declaration of cooperation "to the project. This new brand of support from a patient Association in favor of F101G is extremely encouraging.
The President of the Luxembourg association, Denis Garzaro, then brought the speakers together for a convivial lunch with the members of his association.
Stéphanie Delaunay, President of the French Association of Marfan syndrome, was also present at the Conference and during lunch. She proposed to Dr. Klaus Kallenbach to join VASCERN, the European reference network on rare vascular diseases https://vascern.eu/ and immediately put him in touch with the French Professor Guillaume Jondeau, Coordinator of VASCERN.
The three Presidents of the French, Belgian and Luxembourg associations were delighted with this meeting and decided to increase the meetings and synergies between their respective associations.