Annual scientific day of the Luxembourg Marfan Association DEN-I
DEN-I, the Luxembourg Marfan syndrome association, held its annual scientific day in Luxembourg on Saturday, March 23, 2019. ABSM was invited to take part in this event, during which the 101 Genomes Project dedicated to Marfan syndrome was presented to patient members of the Luxembourg association, as well as to the medical staff who follow Marfan syndrome patients in Luxembourg. At the end of the day, DEN-I expressed its willingness to contribute to and support the 101 Genomes Project dedicated to Marfan syndrome..
ELLA
Ella, aged 14, and her parents Denis and Nadine first met at the ABSM during the UCL multidisciplinary days. Then there’s Ella’s reading of the special edition of ” Cœur et la main ” of the ABSM dedicated to the 101 Genomes Project dedicated to Marfan syndrome, which convinced her to ask the Luxembourg association, DEN-I[1], to support this Project. Ella’s support and enthusiasm meant a great deal to Romain and Ludivine, and they were delighted to accept DEN-I’s invitation.
DOUCHKA
The day began with a presentation by Professor Bart Loeys on three connective tissue diseases: Marfan, Loeys-Dietz and Ehlers Danlos. Unfortunately, Professor Bart Loeys was hospitalized the day before the conference, and had to be replaced at short notice by ABSM President Douchka Peyra! Based on the documentation prepared by Professor Loeys, Dushka gave a brilliant presentation drawing on her dual experience as a paediatrician and patient representative. In particular, Douchka drew the audience’s attention to the signs that pediatricians and general practitioners need to be aware of in order to detect Marfan syndrome as early as possible.
ROMAIN
Romain presented the work of the 101 Genomes Foundation and the 101 Genomes Project dedicated to Marfan syndrome. Following the presentation, a lively question-and-answer session took place with a well-informed and inquisitive audience, providing an opportunity to discuss the Project in detail.
KLAUS
Professor Klaus Kallenbach, a German cardio-geneticist (cardiac surgeon at INCCI, Centre Marfan Luxembourg), who has settled in Luxembourg with the aim of setting up a multidisciplinary consultation for patients with Marfan syndrome, spoke about his experience of aortic surgery. Professor Kallenbach’s talk was both highly technical and very human ! The audience was very impressed. He began by outlining the main problems associated with Marfan syndrome in general, and then focused his presentation on the support he provided to one of his young patients with the syndrome, from the announcement of her pregnancy to the birth of her child. The young mother and her baby were both present in the room, which gave rise to some moving exchanges at the end of the presentation.
CLOSING
Dr Jean Beissel (cardiologist at the CHL, vice-president of the den i asbl Marfan syndrome association in Luxembourg) and Dr Fernand Pauly (pediatrician in functional rehabilitation, member of the PNMR Plan National Maladies Rares committee in Luxembourg) closed the scientific discussions.
DECLARATION OF COOPERATION
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 latest show of support for F101G from a patient association is extremely encouraging.
THE CHAIRMEN
The President of the Luxembourg association, Denis Garzaro, then invited the speakers to a convivial lunch with the members of his association.
Stéphanie Delaunay, President of the French Marfan Syndrome Association, was also present at the conference and lunch. She invited Dr Klaus Kallenbach to join VASCERN, the European reference network for rare vascular diseases https://vascern.eu/ and immediately put him in touch with French Professor Guillaume Jondeau, VASCERN coordinator.
The three Presidents of the French, Belgian and Luxembourg associations were delighted with the meeting, and decided to increase the number of meetings and synergies between their respective associations.
