ANNUAL REPORT– 2012
Association of citizens for rare diseases LIFE WITH CHALLENGES – Bitola
The Association of citizens for rare diseases LIFE WITH CHALLENGES – Bitola is founded by patients and parents that face life with Gaucher disease in the year 2009. Gaucher is a disease that comes from lack of enzyme in the organism and there are problems because of storage of Gaucher cells in the liver, the spleen and the bone marrow. Because of that these patients have low hemoglobin levels, enlarged spleen and liver,weak bones, often fractures, lost of energy, fatigue etc.
Today in Macedonia there are 13 patients diagnosed with Gaucher disease, 4 of them are on Cerezyme donation bu the ICAP program and 1 of them is on clinical study on Eliglustat. They are receiving therapy for 3-4 years and all the symptoms are almost totally gone. This therapy is a life therapy and patients should receive it every two weeks through infusion.
Later in 2012, the association started growing, more patients and parents joined with other rare diseases. First parents with children with Phenylketonura joined. This diseases causes brain damage and mental retardation, associated with physical difficulties. In Macedonia there are 7 patients with this disease and they provide food and medicine on their own wo they can provide normal life.
With Alagille Syndrome there is one child diagnosed in Macedonia. This genetic disorder is characterized with progressive loss of the liver function and in 30 to 50% of the cases there is cirrhosis, yellow skin, itching, problems with vision. To improve their condition and maintain normal development and growth this child needs treatment for the liver, the skin and the eyes and special diet.
In the association there are also patients with HAE, rare disease manifested by swelling (edemas) on different body parts. There is no cure, but there is treatment with C1 Inhibitor. In Macedonia there are around 16 patients with HAE.
There are other rare diseases in Macedonia as: multiple myeloma, phenylketonuria, myelodysplastic syndrome, gastrointestinal stromal tumors, recidivans, acromegaly, gastroenteropancreatic neuroendoc rine tumors, mucopolysaccaharidosis, hereditary tyrosinemia, galacorosemia, and hereditary fructose intolerance.
The association is open for members and other patients and parents that face life with rare diseases. In Macedonia there is a low level of diagnosis of rare diseases and we need to improve the area of diagnosis and treatment further. Patients often go in other countries for treatment and diagnosis.
Until now the Ministry of Health is treating only 2 patients with mucopolysaccaharidosis.
Activities and events in 2012:
• Continuous activity form 2009 until today is regular communication with the Ministry of Health for improvement of conditions for treatment of patients with rare diseases.
• Continuous cooperation with Children Clinic Skopje and realization of meetings with the director of the Chidlren Clinic – Aspazija Sofijanova, who become a supporter of the association towards realization of our goals.
• In 2012, on 29th of February, Rare Disase Day, with a goal of raising public awareness and informing of citizens and patients, we organized a press conference with media and we talked publicly about our probelms and challenges. more information about the event you can read on the links bellow from media.
9. Telma television – news- http://telma.com.mk/index.php?task=content&cat=6
11. novinska agencija – http://mia.mk/default.aspx?mId=35&lId=1
13. Focus daily newspaper
14. Sitel television – morning show and news
15. Alfa television – news, Portik and morning show
• Cooperation with associations and organizations: HAE Macedonia, HEMOLOG, Associations form Bulgaria, Serbia, Croatia, Slovenia, Bosnia and Herzegovina etc.
On EU level we are members of European Gaucher Alliance and now in 2013th we are also full member of EURORDIS.
• Projects: In 2012 we won the PAL award and we will use the resources in 2013th according to planned activities for campaign for raising public awareness for rare diseases (press conferences, events, publishing info material).
• Web page: http://challenges.think.mk/ , We have a new web page where we publish activities and information. We continue with communication through facebook group and fan page: https://www.facebook.com/groups/312483895490987/ , https://www.facebook.com/LifeWithChallengesi .
• Honorary member: Ms Mary Jo Wohlers, wife of ambassador of USA in Macedonia.
• Companies: cooperation with Genzyme (Sanofi Company) continues for raising public awareness about rare diseases. CONCEPT Marketing Communications is also a supporter of the association in the field of public relations, design, promotion materials etc.
• Media: media cooperation is on a very high level. All of them publish stories, articles and interviews about rare diseases and some of them filmed TV shows on the subject.
During our development we focused on contacting patients, uniting families and offering support and help in terms of information and treatment. As the membership is growing the association becomes stronger and more influential.
We are also making efforts in creating a register for patients with rare diseases so we can see the real situation in Macedonia regarding rare diseases.
Other activities are planned in cooperation and communication with the members and supporters of the association. We expect to come to long-term solution for provision of treatment for rare diseases in Macedonia in communication and cooperation with the Commission for rare diseases, the Ministry of Health, the Health Insurance Fund of Macedonia, the Bureau of Drugs and the Children Clinic. .
President od the Association of citizens for rare diseases
LIFE WITH CHALLENGES – Bitola