We had two patients speaking – Francisco Albiol who is a Fabry patient from Spain and Wojciech Nadolski – a Fabry patient from Poland. Francisco told us his personal story of Fabry disease and what he had to experience during his journey to diagnosis and treatment. Wojciech guided us through the difficulties they face in Poland where reimbursement for treatment is not provided and this leads many people to develop severe symptoms. He also told us about very interesting initiatives they do to raise awareness about the disease among the government officials.
Doctor Nadia Ali told us about the psychological impact of Fabry disease and about Fabry fog. She also gave us a glimpse to the cognitive function examination procedures and informed that she is coordinating a 12 hour-long cognitive testing for Fabry patients.
Professor Dominique Germain gave a really clear and understandable description of X chromosome inactivation so to say the scientific basis of the Fabry woman. He also gave a presentation about family planning when one of the partners have Fabry Disease.
A representative from the Japanese association presented the results of their survey related to Fabry disease. We were also updated on kidney, heart, pain issues and other interesting topics.
This year’s Fabry Expert Meeting also had a new initiative – a day dedicated to workshops. We had topics such as “Understanding the psychological needs of Fabry disease“, “Symptom management“, “Let‘s talk Fabry men“ and “Let‘s talk Fabry women“. All the patients and their caregivers were divided in to smaller groups to discuss one particular topic and each participant could choose three workshops to participate in. FIN is working on a summary report based on the outcome of the workshops and will share this in the next newsletter. Participant feedback highlighted the desire for continuing the workshop program at future meetings.
As during all past meetings, the annual general meeting of the membership was held to discuss Fabry International Network matters and also re-elected 3 directors of the board for the three-year term. Of course the FIN board and pharmacy companies meetings prior to the Fabry Expert Meeting are to be mentioned. During these we received updates concerning what is happening in the area of treatment and discussed how the industry partners could help us accomplish FIN’s mission – “a world where every single person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment and cure“. We will share that information among the membership through our newsletter, website and future meetings.