The International Gaucher Day (1st October) is marked in over 40 countries where organisations, members of the European Gaucher Alliance, organize different activities for the patients, families, doctors, researches….In Macedonia, the Citizens’ association for Rare Diseases LIFE WITH CHALLENGES…..
Over 10 patients in Macedonia suffer from Gaucher Disease. The disease is manifested in three types, but in Macedonia only Type 1 is present. This type of the disease is manifested with enlarged spleen and liver, bones easily prone to fractures, low platelets count and low hemoglobin, lack of energy, etc. Until 2015 5 patients received treatment through donation via a humanitarian programme of the company Genzyme Sanofee Aventis and one through the programme for rare diseases of the Ministry of Health. Since 2015 enzyme replacement therapy is available for all patients provided by the Programme for Rare Diseases of the Ministry of Health. This therapy is present worldwide since 1991. With this therapy all the symptoms that have occurred in the course of the years decrease and even diminish and patients themselves can have normal life.
As a Gaucher patient I am thankful for the advancement regarding the patient treatment of Gaucher Disease in Macedonia. Since my diagnosis 23 years ago until today I am happy that all newly diagnosed patients with this disease do not have to fear for their future, on the contrary, with the right diagnosis they will have the opportunity to receive timely treatment which is a gold standard in the world and with this they have the opportunity for a normal life without feeling the symptoms of the disease in the long term. I do hope that all the rare disease patients in Macedonia will have the same opportunity to lead a normal life in Macedonia. With the therapy we can have a family, we can work and we can contribute like any other citizen of R.Macedonia– Vesna Aleksovska, President of Life With Challenges.
Although quite different among themselves, people suffering from rare diseases and their families have equal difficulties that stem precisely from the rarity of their disease. The problems are numerous, from setting the final diagnosis and access to proper treatment to social exclusion and life on the margins of society.
Despite everything, strength, optimism and the belief in better tomorrow are the main “weapon” of the patients and their families in the fight for a long life of good quality. It is up to us to give them hand and ease their journey…