Vergiate (VA), 06/04/2018
To Meyer Hospital
AIBWS Onlus (Beckwith-Wiedemann Syndrome Italian Association)
AIBWS ONLUS was founded in 2004 by a mother who had to face up to the rare disease of her own son and needed a base of discussion and help for Beckwith-Wiedemann patients and their families.
The main purpose of the association is to create a support and help network among people living with the syndrome by offering them help in the different aspects of a rare disease (medical, psychological, burocratic, etc.). More, AIBWS works to increase researches and spread knowledge about this syndrome among doctors and society.
AIBWS Onlus meets families, doctors and institutions to increase their knowledge, to help and to offer better opportunities for patients in the future. Furthermore it collaborates with some other Italian and European associations and with “Theleton” (the major Italian foundation that supports and finances rare genetic disease research projects).
Now the association is regularly registered at the Italian “Agenzia delle Entrate” (Income Revenue Authority), at the “Registro regionale del Volontariato della Lombardia” (Regional Record of the volunteers in Lombardia)and is officially recognized by the Italian agency ISS (Istituto Superiore di Sanità).
AIBWS ONLUS in 2011 founded a Scientific Committee that collects the best Italian syndrome experts with specific knowledge in the different aspects (genetic, orthopedic, facial surgery, pediatric, psychological):
- The Committee meets every three months the association to consider the latest news from the scientific world and to debate for finding the best therapeutical indications for patients and for encouraging medical projects as scholarships, conferences and publications. This work is fundamental to achieve the aim of a European and Italian official medical treatments protocol.
- To answer to the many questions of the families about proper medical treatments, the Scientific Committee wrote down a draft “Therapeutical Directions”, which was shown, in 2013, with all syndrome experts in a specific meeting organized by Aibws in Turin. An article about this was published on EJMG, that was the starting point for the International Consensus works started in 2015 and ended last March in Paris, with 8 Italian experts on 33 and with Aibws Administrator on only two representative syndrome associations. This International Consensus was published last January on the scientific magazine “Nature Review of Endocrinology”. Because the Consensus is a series of indication that need to be applied to the different National Health Systems, Aibws and its Scientific Committee are working to new Italian Therapeutical Directions, with the evolvement of all the Italian experts and these works should end in 2018.
- an annual scholarship is coming, it will increase and improve a 325 medical files database and it will support a sperimental study about the possibility of measuring the tumoral marker alphafetoprotein, used in the oncological screening for early diagnosis of epatoblastoma, on a single blood drop adsorbed by bibula paper from capillary blood sample.
- A specialized magazine is considering a six hands article (genetist, psychologist and pediatrician), with the aim of focus the medical interest on psycophysical health as a fundamental aspect. The article has derived from a psychological study in collaboration with “E. Medea” Scientific Institute in Bosio Parini (LC), started in 2011 and still in progress, that, collecting datas and information from the association involved families, has the purpose of taking into consideration the syndrome impact on patients and on their “caregiver” families, to find proper instruments for all different problems coming during growing up phases.
Families are involved and periodically informed about all the works especially during meetings yearly organized by the association, with the aim of promoting the contact with medical and institutional world and the discussion among people who live same syndrome conditions.
The experiences sharing and the possibility of keeping in touch for the families through internet and social networks lead to face up to the psychological disease aspect in the family (see the psychological study). By these considerations BIWY’S FRIENDS idea has come: a book that tells about Beckwith-Wiedemann syndrome to children as a fairy tale. In this way the association wants to offer to the families a communication instrument to help children accepting their condition. The idea is also to increase the disease knowledge in the environment where children grow up (schools, libraries, communities). With the same purpose a video about blood sample, that our children have to do often with stress and difficulties, is going to be released.
The project “keeper family” is still at the early beginning, the idea is about a welcome center for families who meet the syndrome for the first time and need a valid “guide” to know all the aspects of the disease. The project is present is some structures in the north of Italy, but a big collaboration among doctors and association is required, so long time is necessary.
The website has been renewed and now collects all the activities and projects. A public page and a secret group on Facebook give to families a daily support about personal and general questions. Profiles on Youtube and Flickr has been just created and still in compiling phase.
At the end of April there will be the annual Aibws meeting with the approval of the 2017 balance sheet. The program of the four days includes different specialists (social assistant, newborn expert, genetist, biologist, orthopedist, etc.) who will help families, will clarify any doubts and will explain latest news.