Rare Disease Day
28th of February, 2013th
The Association of citizens for rare diseases “Life With Challenges” marked the Rare Disease Day, 28th of February and with that it started the campaign for raising public awareness for rare diseases in Macedonia.
This year, except the patients and families that cope with Gaucher, Phenylketonuria, and Alagille Syndrome, towards the association joined patients and families that cope with Hereditary Angioedema (HAE), Morbus Leigh, Epidermolysis Bullosa, Congenital cataract, Tyrosinemia etc.
The president of the association, Vesna Stojmirova, emphasized that the association is opened for all patients and families that are challenged in their lives with rare diseases, and together they should try to step up towards a better future and a higher quality of life.
“Today we are here to support families that live with rare diseases and to revive the hope that the rights of the patients (treatment) will be fulfilled in Macedonia. For no, the condition of treatment is not changed compared to the previous year. Two patients with mucopolysaccharidosis are treated from the Ministry of Health in Macedonia, four patients with Gaucher are being treated by donation from Genzyme (for 4-6 years), one patient with Gaucher is on clinical study through Genzyme. In negotiation with the Ministry of Health in Macedonia we came to reforming of the Commission for Rare Diseases in Macedonia and the chairman of this commission, Aspazija Sofijanova (director of the Children Clinic in Skopje) is today with us. We hope that with the work of the commission we will increase the cooperation with the Ministry for Health in order to find long-term solution for provision of treatment for the patients with rare diseases. Also for some medicines that are available for other diagnosis from the Health Fund in Macedonia, we hope that they will be available for patients with rare diseases that need such medicines in the everyday health care process.”
At the event Mrs. Mary Jo Wohlers, wife of the ambassador of America in Macedonia, was present to support the association and the patients in their efforts as an honorary member of the association.
“If we work together, we will find solutions to the problems that patients face because of rare diseases. The work of the association is very meaningful and alsto the cooperation oof patients, families, and state institutions is a key factor to provide long-term solution for the problems of the patients with rare diseases.”
During the event, the director of the Children Clinic in Skopje, and the chairman of the Commission for Rare Diseases – D-r Aspazija Sofijanova, shared a good news, that one child with Gaucher will start treatment with the help of the Ministry for Health.
“With the establishment of the Commission for Rare Diseases we made a step forward towards supporting the patients with rare diseases, and providing treatment for normal growth and development of the patients. We are on a very good way to accomplish our goals. We can do everything if we believe. “
Mrs. Tanya Colin – Histead, director of the European Gaucher Alliance, emphasized that as a mother of a child with rare disease (Gaucher), she has even stronger motive to support the fight for treatment of the patients in Macedonia.
“Even though we are European Gaucher Alliance, we work through the whole world. Until know we have accomplished a lot, and especially the last years we succeed to move forward regarding the progress of treatment in the neighbor countries of Macedonia. Raising awareness about rare diseases in Macedonia and finding the way for treatment of the patients with rare diseases is also my personal challenge and I hope that we will find solution for treatment of the patients.”
The Association of citizens for rare diseases “Life With Challenges”, will continue with the campaign for raising public awareness about rare diseases in Macedonia and with the efforts for provision of treatment for the patients with rare diseases in Macedonia.
A lot of families that face rare diseases were present at the event for Rare Disease Day, joining together in the efforts for providing a better life for their children.
*The event was supported by: Genzyme, with the PAL award, CONCEPT Marketing and PR, the Medical Faculty, the Children Clinic in Skopje, City Mall and Pelisterka. Students from the Faculty of Pharmacy were volunteering in the organization of the event.