TOGETHER FOR A BETTER LIFE FOR PATIENTS WITH PRADER WILLI SYNDROME AND OTHER RARE DISEASES

In September 2005, we applied for and were given financing for a project ?Together for a better life for patients with PWS and other rare diseases?, financed by Royal Netherlands Embassy in Bucharest through the Matra KAP - Programme. 
Objective
To improve the access to medical care for people with rare diseases in Romania.
Achievements
We have also organized in Bucharest a Conference about PWS as a part of the Balkan Congress for Endocrinology and the first meeting of the parents with PWS children from: Salaj, Cluj, Bihor, Satu- Mare and Bucharest. They were able to share their experiences, fears and hopes and started a support group. 
We have established support groups for parents of children affected by:

• Muscular dystrophy
• Down Syndrome
• Diabetes Insipidus
• Galactosaemia
• Autism. 

We established contacts with Genetic Lab ? Bucharest and renewed our relations with Mauro Baschirotto Institute for Rare Diseases in order to help our patients to receive a proper genetic diagnosis for free. 10 children suspected by PWS were tested for free in Bucharest and one who is suspected to have Angelman Syndrome has been tested by the Italian laboratory. 
We have laid the base for a local network, organizing the first meeting with major decision makers of our community- ?Implication through the Community?. There were representatives present from the health department, education department, social services, public institutions and NGO?s. 
We have translated and collected information on 10 different rare diseases. All this information will be published in a brochure with Matra Kap financial support: Prader Willi Syndrome, Werdniq Hoffman Disease, Lobstein Syndrome, Autism, Williams Syndrome, Down Syndrome, Diabetes Insipidus, Galactosaemia, Muscular Dystrophy and Total Congenital Atrioventricular Block A (BAVC.