OUR ASSOCIATION

WHY WAS OUR SUPPORT GROUP CREATED?
Our association was founded in 2002 starting from RING14 syndrome, from which our name; in a second time we collected all the syndromes caused by aberrations of chromosome 14 (deletions, translocations, duplications….).
 
Actually there are no associations concerned with these pathologies and for these children’s parents it is very difficult to exchange experiences and information.
 
Being parents of a child with a rare disease is very hard: besides trying to face all the problems related to the symptoms of the disease and struggling daily against frequent emergency situations, there is nobody able to tell us exactly what will happen, which are the best treatments, which tests should be made, how will be our child able to develop and which will be his/her quality of life. People affected by these chromosome syndromes, their families and caring doctors, at present, have few instruments capable of providing complete and exhaustive information on all possible symptoms arising from those pathologies, neither on diagnosis nor on treatments.
 
AIMS AND PURPOSES OF OUR ASSOCIATION:

• IDENTIFYING and connecting all families with children affected by the Ring14 syndrome and all the aberrations associated to chromosome 14, in order to offer them the support of our Association letting them know that they are no longer alone and to supply, through our web site, a valid instrument of communication, information and exchange of experiences.
• ESTABLISHING the first medical and scientific “Data Bank” on those rare syndromes, because only in this way it will be possible to detail the description of signs and symptoms concerning syndomes of chromosome 14 creating in such a way a real clinical picture which is at present only partially described in the specific international publications.
• DESIGNING a route/protocol of medical survey for all aberrations of chromosome 14, investigating the correlations between clinical manifestations and molecular genetic changes.
• PROMOTING all social, political and scientific activities for diagnosis and research concerning syndromes associated to all aberrations of chromosome 14, through the web site of our Association and through our publications.
• COLLECTING funds to promote scientific research, also by funding scholarships, in order to obtain more and better information aiming to define a suitable program for a proper treatment of syndromes associated to all aberrations of chromosome 14 and for the physical, mental and expressive development of people affected by that pathology.
• CREATING a network of consultants including doctors, scientists, health workers involved in the problems related to genetic syndromes associated to all aberrations of chromosome 14 in order to offer a better general assistance.