Germans Trias Professionals organize the first National Meeting on Neurofibromatosis Type 2
Last Friday the first update meeting at national level to take a global view of the healthcare situation and present the latest research data for Neurofibromatosis type 2 (NF2) took place at the IGTP. This pioneering event was organized by the members of the National Reference Centre in genetic neuro-cutaneous syndromes (Facomatosis), (CSUR) on the Can Ruti Campus and also included patients and families affected by the disease.
The diagnostic and treatment of patients with NF2 requires professionals from many disciplines. It is a rare genetic disease caused by mutations in the gene of the same name (NF2), which affects one in every 33,000 people in the world. Patients with NF2 develop multiple tumours in their nervous systems, brain covering, eyes and skin, which require different specialists depending on where the tumours appear. It is especially important that there are shared spaces where professionals can be updated about different aspects including: clinical criteria, management of the disease, genetic diagnosis and new screening methods due to its complexity.
For the above reasons this event was attended by paediatricians, oncologists, neurologists, dermatologists, neuro-surgeons, geneticists and nose and throat specialists, amongst others, to report on the latest developments in their field for this disease. Two of the organizers, Dr Emiliol Amilibia and Dr Francesc Roca-Ribas from the Otorhinolaryngology Service, explained how they were very pleased with the success of the meeting, "We are very pleased that so many specialists from other centres have attended and shown such an interest, this has meant that we have been able to share a lot of experience in managing these patients." As well as getting up-to-date in the healthcare aspects, Dr Elisabeth Castellanos and Dr Eduard Serra from the Hereditary Cancer Research Group of the IGTP summed up the latest progress in genetic diagnostics and explained the latest developments in research at the CSUR. The conclusions have been very positive, as Dr Ignacio Blanco explained, "Professionals working on NF2 have been able to put their knowledge together and get up-to-date; some who did not have the new tools before can now use them to recognize the disease and know how to deal with it when they receive patients."
NF2 First hand
In cases of rare diseases, such as NF2, Patients Associations play a key part, some of them even finance research lines. They also had a special place in this pioneering meeting, where they could share their experiences and opinions about the current system of managing patients, "Their contributions are key for evaluating the way we carry out our work and to continue improving," explained Blanco. To finish the session, health professionals, researchers and families and patients all took part in workshops to sensitize the participants to what some of the symptoms of the disease feel like.
About the CSUR
The National Reference Centre in genetic neurocutaneous syndromes (Facomatosis), (CSUR) has the mission of providing integrated management of patients with phakomatoses, a group of diseases that includes: neurofibromatosis types 1 and 2, family schwanomatosis, tuberous sclerosis and Von Hipple Lindau disease. The healthcare team is multidisciplinary and includes medical professionals from different services in the hospital as well as the support of healthcare professionals, all working in close coordination with the Hereditary Cancer Research Group and Diagnostics service at the IGTP. The unit can also treat patients from outside Catalonia, referred via the Information System of the Cohesion Fund (SIFCO) of the Ministry of Health.