By Jordi Serra and Thomas Bertrand.
On 8th March, took place at the Centro Médico Teknon in Barcelona, the 4th Catalan day on Rett Syndrome. This year the main topic was “From Research to Assistance in Adulthood”.
Rett Syndrome is a neurological disorder that occurs mainly in girls. It is caused by altered regulatory process through DNA genes methylation. Rett Syndrome is a rare disease that causes a total and lifelong dependency. The diagnosis can be confirmed by genetic studies of mutations in the MECP2 gene. Coinciding with the twentieth anniversary of the Catalan Association of Rett syndrome, this 4th day, organised in collaboration with the Teknon Foundation, aimed to pay tribute to all institutions that has continuously been giving strong support for the care of girls with Rett syndrome. This year, in addition to offering all the updated information necessary for early diagnosis and better treatment, it emphasised the importance of the regulation of care model for girls with Rett syndrome in Catalonia and the ability to replicate in other autonomous regions of Spain.
During one day, a broad community of politics led by the Catalan Ministry of Social Security, researchers, patients’ associations, directors of centres expertise, multidisciplinary centres, private foundations, day centres, social workers, etc… performed presentations.
The topics presented were:
- 20 years of Institutional and Catalan Association Support for Rett Syndrome: a retrospective;
- Updating the state of the art on “Centres of Expertise” with a focus on the importance of transition from paediatric to care for adults;
- Research update on Rett syndrome;
- Project of homogenisation of healthcare and coverage of the territory: one replicable model in the other autonomous regions;
- Examples of Centres (private and public) for people with special needs.
The care pathway of people with special needs, throughout life, can be summarised as followed:
- From birth to 3 years old: normal pre-school with an early attention
- From 3 to 21 years old: Special schools
- From 21 years old: 3 possibilities:
- Working centres- where person with light or medium disability can develop a job as in a company or factory.
- Day centres – persons with high level of disability can develop learning activities, therapies, etc. as in the special school
- Residences – these are day centres with the possibility for people to have the complete residence (life) there.
As a very important fact, there was a large explanation about the agreement signed by the Catalan Rett Syndrome Association and the Social Security Department of the Catalan Government. A network of Day Centres and residences in all the territory have been selected for being the receptors of the Rett women when they leave the special school. These centres are capable to give a good services in terms of professional, therapies, teaching and other services required by Rett women. This agreement is giving a peaceful feeling to parents, since the public services are going to offer the best services for our Rett daughters.
The conference hosted almost 120 people and was broadcasted live with video streaming in Spanish language. Through the streaming there was an average of 150 people connected.