On the first day Dr Aquilino Sanchez’ presentation about Fabry was very informative. He mentioned the psychological problems that Fabry patients are facing from a young age on and that women with Fabry Disease need to be considered to be even more complicated than men due to mosaicism. He also explained the vascular tortuosity sign that many patients have and that appears in MRI’s or other imaging examinations. Fabry and the heart was presented by Dr Vicente Climent Paya, he shared an excellent explanation of heart symptoms and how they may gradually worsen in Fabry patients. He mentioned that the first symptoms of heart problems would be dyspnoea, fatigue and/or arrhythmia. Furthermore, he explained the differential diagnosis for the left ventricular hypertrophy.
On the second day of the congress, a presentation about Fabry disease mutations was given by Prof Dominique Germain, a molecular and clinical geneticist and well-known expert in the rare disease field. He explained the genotype/phenotype correlations as well as the X-chromosome inactivation profile. The last presentation was about psychological and sexual problems by psychologist Eduardo Brignani who has worked with chronic disease patients for more than 30 years. He pointed out the importance of acceptance of one’s condition as an ongoing state and not only at the stage of diagnosis and he also said that the preoccupation with the future and the never-ending question “what if?” is what is generating the negative thoughts. One’s goal could be to be excited to live life with interests, activities, close to friends, family and loved ones.
All presentations added value to the important goal to better understand Fabry Disease.