The only patient association for rare disease cutis laxa held its first truly international meeting in May, a triple-pronged event that allowed for the exchange between patients from all over the world, as well as an interchange between experts of this extremely rare disorder, and, finally, the meeting of patients and professionals, which included medical consultation sessions.
The third Paris Information Day for Cutis Laxa, held 9-10 May, for the first time included patients from some far-flung corners of the world, including Argentina, Lebanon, and Australia. Three volunteer interpreters were on hand to help smooth communication, allowing for a true exchange of experiences between patients of this rare disease, which is characterised by degenerative changes in elastic fibres resulting in loose, pendulous skin, and possible anomalies in the vocal cords, bones, cartilage, blood vessels, bladder, kidney, digestive system, heart and lungs. Organised by patient group Cutis Laxa Internationale in collaboration with the French Reference Centre for Rare Diseases with Skin Symptoms (MAGEC), located at Necker Children’s Hospital in Paris, the reference centre team of experts conducted individual consultations for every sufferer, whether from France or abroad. Medical files were evaluated and the professional staff was able to assess whether patient care was appropriate and relevant. Consultations with other specialists, such as cardiologists or geneticists were organised the same afternoon. The accompanying conference, open to both professionals and patients, included the sessions, The Centre of Reference for Genetic Disorders with Cutaneous Expression ; Tribology, an experimental device: A new approach for Cutis Laxa ; and Rights and ethics in the specific context of rare disorders . The sessions included time for questions from the audience. A parallel event was hosted in Saint Louis, Missouri, for patients in the USA who were unable to attend the Paris-based conference. It was the very first information meeting for cutis laxa patients held in the USA and included genetic testing for the eight patients present.
Cutis Laxa Internationale currently counts 142 members. It is estimated that there are 500-1000 patients worldwide. No official registry exists, but the website serves as a base for recording the profile and statistics of patients.
Source : OphaNews Europe, 27 August 2008
Ichthyosis Awareness Month 2019 : more than ever needed