Eu digo X – www.eudigox.com.br

Project “I say X” (Short Version)

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Background

Fragile X syndrome is a genetic disease still little known in Brazil, being very under diagnosed. Most children are in institutions, special schools or included in school based on a diagnosis of autism or intellectual disabilities. In Paraná, the situation is very serious and there are very few cases identified.

In view of this the Institute Zeca Muggiatti, in Curitiba, created the project “I Say X” to promote the production and transmission of information, contributing to a greater understanding and awareness of the Syndrome and to promote better living conditions for people with FXS promoting advice, guidance and support for the prevention and diagnosis of the disease as well as for education and development of their children.

Main objective

To spread information about FXS, in order to increase knowledge and awareness of the syndrome among society, and promote support and aid in the processes of prevention, screening, diagnosis, education, treatment, rehabilitation, social inclusion and legal protection.

Project Structure

The project is organized in different sub-programs and actions that cover the various needs of children and young with FXS, and their families, throughout the lifecycle programs. In the short term, the project aims to disseminate and awareness programs, screening, diagnosis, early intervention and support for inclusion. At a later stage, and according to the specific needs of the identified populations, programs in the area of occupational and cultural activities, professional inclusion, care home and volunteering will be developed to cover the entire life cycle of people with FXS.

Programs: Program 1 – Information & Awareness The broad objective of this program is to disseminate information and promote awareness of FXS among professionals, and all the population, across different media platforms, including:

– To inform about diagnosis, preventive measures, education, treatment, social inclusion and legal support;

– To disseminate information on the syndrome among all the population, decision-makers and institutions and services;

– To raise awareness among professionals for the existence of FXS and how it can be diagnosed;

– To inform families about the need of a adequate diagnosis;

– To raise awareness of the political power to produce laws and policies to support and protect people with FXS and their families.

Program 2 – Registration And Screening This program seeks to identify cases that have been diagnosed with FXS and to screen potential new cases, including: – To identify and mapping Paraná’s children who have FXS; – To identify children showing signs that justify carrying out specific diagnosis – To create a database of screened children and families; – To promote, in partnership with the Department of Genetics, of the “Hospital das Clinicas”, screening of children at high risk of FXS; – To inform families about screening procedures and referral for diagnosis.

Program 3- Diagnosis

In the absence of adequate means for making the diagnosis of FXS in the state of Paraná, the project’s objective is to facilitate the access to this critical process, by – To promote and support the accomplishment of genetic evaluation tests (in the short term); – Participate in creating appropriate laboratory conditions to perform molecular diagnosis of FXS in the state of Paraná (in the medium term), in an expected cooperation with FEPE- Ecumenical Foundation for Protection of the Exceptional (the institution that makes the newborn screening for all children in Paraná).  

Program 4- Early Intervention

As family-centered early intervention programs has been shown to be those with better outcomes in children’s development, this program aims to: – Support families and children when there is a diagnosis of FXS; – Support the development a family-centered program of early intervention for cases of FXS, in an expected cooperation with FEPE- Ecumenical Foundation for Protection of the Exceptional.  

Program 5- Education inclusion

This program aims to monitor and facilitate the educational process of children and youth with FXS, including: – To support the educational inclusion of children with FXS in their schools; – To train teachers of schools and special schools to work with children with FXS; – To give support to the families of children in school inclusion process.

Other programs (medium and long term)

Occupational and cultural activities – promoting occupational, sports and cultural activities for children and young people with FXS.

Professional inclusion – promoting professional inclusion projects, employment and professional training for young people with FXS.

Home care and autonomy– find answers to the needs of people with FXS in adulthood and facing aging, including residential solutions.

Volunteering – develop initiatives to promote volunteering, essential to support the families.

Research

Given the innovative nature of this project in Brazil, it will be supported and fostered the exchange of experiences, groups and units of study, to promote the development of research, technology and technical and scientific knowledge about Fragile X Syndrome, establishing agreements with national and international research institutions and giving shelter to undergraduate studies, postgraduate thesis and advanced research.

Na foto abaixo: Professor Dr. Flávio Arns, Vice-Governador do Estado do Paraná e grande lider dentro do Movimento Apaeano e Professor Dr. Rui Fernando Pilotto, Coordenador Nacional de Prevenção e Saúde da Federação Nacional das Apaes, atuando como Voluntário junto ao Movimento Apaeano na área da Genética Médica. Na foto, ambos mostrando apoio ao Projeto X-Frágil – www.eudigox.com.br

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