Tuesday December 27th, 2016

For the 15th time, the members of the Dicing centre Amfora, and the Club for under water activities Ohrid, in cooperation with the Alliance for under water activities of Macedonia, decorated the Christmas tree under water in Ohrid lake, Macedonia. Traditionally as every year they decorated the tree in the lake at the Bay of Bones. Even the youngest members of the diving club participated in this activity.

This year the Ohrid divers dedicated the decoration to the children with rare diseases in Macedonia. Goran Balevski said that this year they decided to sent a message to the public for support of the children with rare diseases.
This cooperation was made possible with the efforts of our member Gordana Loleska from Ohrid.

On 3rd of December, our member Viktorija Penovska with the help of her school and her friends and family organized an event in her school focusing on the importance on accepting disability and the importance of social inclusion.

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The Macedonian Academy for science and art had the opportunity to organize the fifth meeting of SEE for rare diseases, on 12th November, 2016.
Int he organizational committee of this meeting are: Momir Polenakovic, President, Zoran Gucev, Secretary, Nada Pop-Jordanova, Ilija Filipche, Zivko Popov, Velibor Tasic,Aspazija Sofijanova, Vesna Aleksovska, Dijana Plaseska Karanfilska

The program was as it follows:
09.15-09.30 Stefan Chichevaliev, Vesna Aleksovska, Skopje Macedonia, Policies, practices and their impact on the quality of life of people with rare diseases
09.30–09.50 Momir Polenakovic, Skopje, Macedonia, Rare genetic kidney diseases
09.50-10.15 Milosevic Danko, Zagreb, Croatia, Atypical hemolytic-uremic syndrome (aHUS) in Croatian children
10.15-10.40 Zoltan Prohaszka, Hungary, Overview of complement deficiencies
10.40-11.10 Milan Lakocevic, Belgrade, Serbia, Enzyme Repleacement treatment: Serbian experience with taliglucerase alfa
11.10-11.40 Adrijan Sarajlija, Belgrade, Serbia, Glycogen storage diseases – single center experience
11.55-12.20 Johannes A. Mayr, Salzburg, Austria, Mitochondrial diseases – Are they rare or common?
12.20-12.45 Velibor Tasic, Skopje, Macedonia, Pitt Hopkins syndrome an update
12.45-13.10 Zoran Gucev, Skopje, Macedonia, The spectrum of growth disorders: the Macedonian part
13.10-13.35 Rossella Parini, Milan, Italy, Mucopolisacharidosis: diagnosis and treatments
Session II – Moderators: Ilija Filipce, Velibor Tasic, Zivko Popov
14.10-14.40 Hans Joachim Seitz, Hamburg, Germany, Endocrine Disruption as cause of (rare) diseases
14.40-15.10 Oliver Bartsch, Mainz, Germany, Next generation sequencing in pediatrics (in Germany)
15.10-15.35 Jan Halbritter, Leipzig, Germany, Mutation analysis in kidney stone disease
15.50-16.05 Zlate Stojanovski, Skopje, Macedonia, Polycythemia rubra vera in patient with Gaucher disease
16.05-16.25 Liljana Saranac, Nish, Serbia, Microprolactinoma in childhood and adolescence; a rare or underestimated disease
16.25-16.45 Zoran Gucev Skopje, Macedonia, M.Gaucher: treatment

The Citizen Association for Rare Diseases “Life with Challenges” organized a round table on the topic of rare cancers in Macedonia at Best Western Hotel in Skopje on October, 28th , 2016. This activity was about raising the institutional and public awareness regarding the inaccessibility to treatment for patients suffering from rare forms of cancer for which at the moment no therapy is procured neither through the FHIM nor through the rare disease programme of the Ministry of Health nor through the oncology and haematology clinics.

One of these rare cancers is the Myelodysplastic Syndrome and the day of MDS is marked in the month of October. One MDS patient is already receiving treatment through donation and another one received a similar donation in order to stabilize the state before starting bone marrow transplantation. There are different types of MDS and they fall into the rare disease group and there are the so called orphan drugs for their treatment. Unfortunately, at the moment we do not have precise information about the number of patients in need of treatment because of the different classification of MDS, however, the probability is that around ten patients need innovative therapy which will suppress the disease progress and improve patients’ lives.

Also there are many other different types of rare cancers such as: multiple myeloma, malign myeloma, gastrointestinal stromal tumors, gastroenteropancreatic neuroendocrine tumors, acute myeloma leukemia, angiosarcoma, neuroblastoma and many others; some of these have been publicized as rare in the Rare Disease Programme back in 2009, yet today they are not included in the Rare Disease Programme. We believe that they should not be discriminated as such and that these patients should receive the necessary treatment as they in fact do so in our neighbouring countries such as: Bulgaria, Croatia, Slovenia, Montenegro and Serbia made progress in this area.

Statement Vesna Aleksovska, President of “Life with Challenges”

“Rare diseases were invisible for a very long time in Macedonia. Since 2015 and the commencement of the Rare Disease Registry and the increased finances in the Rare Disease programme finally offer 13 diagnosis, that is 150 patients have received treatment. Until then these patients did not receive any type of medication and were left to their own means. Unfortunately, the patients with rare forms of cancer who are at the haematology clinic and oncology clinic still do not receive the necessary medicines. As a patients’ association we believe that there is discrimination towards these patients because they are faced with a rare disease and should be provided with medicines that will prolong their life, as well as improve their quality of life. One of these rare cancers is myelodysplastic syndrome (MDS) which is marked in October and for which we have created a brochure aimed at patients facing with this disease. One patient from Macedonia with MDS already receives the necessary treatment through a donation. We believe that treatment should be provided for all patients with rare cancers who are registered at the clinics. Unfortunately we do not have the exact number at the moment, but such diagnosis are rare and can be found at the Orphanet list; and at the moment this is one of the criteria for procurement of medicines for rare diseases. The criteria of 20 patients per diagnosis is discriminatory and as an Association and Alliance for rare diseases we reacted to the number 20 because we fear that the number is very limiting and there is uncertainty what will happen when the 21st patient is registered. We appeal for the rare disease programme to additionally expand financially, that is to say, for the amount that had been promised at the beginning (twice more than the present amount of 3 million euros) so that more patients receive the necessary medicines. Innovative medicines used in the world should be used in Macedonia in order to prolong and improve the patients’ lives.

Statement by patient with MDS –Dragi Lazevski

“In September I felt as if without energy or fitness, after all the tests the diagnosis of megaloblastic anaemia was confirmed in November. I was in dire financial situation and unable to provide the necessary medicines. Fortunately through Doctor Irina from haematology, whom I am deeply grateful for all her endeavours and those of the nurses and staff at the haematology clinic, I received treatment through donation from the company Celgene. After the treatment I felt wonderful and I can work and spend time with my family and do everything that I did before the disease. I must say that is important that innovative therapy should be available to al patients in order to have good quality of life and to prolong their life. No family alone can afford to provide treatment. Financially it is terribly difficult.”

Statement – Biba Dodeva, President APO

“In this pre-election times citizens need more than slogans. Therefore I publicly call upon all public institutions, present and future government, present and future health managers, I call upon the politicians and all those which our health depends on to put cancer as a priority in the health programmes and to understand the necessity of URGENT implementation of the National Strategy for Controlling Cancer in Macedonia that will enable and engender joint detection of problems and a comprehensive approach for surpassing them and resolving them.

Statement- Davor Duboka, Executive Director of the National Rare Diseases Organisation of Serbia

“I would like to point out the importance of what has been happening in Serbia recently, namely the HIF is already in negotiations with the pharmaceutical companies to create a priority list of innovative medicines that will be procured through a special fund in order to help patients facing difficult diseases, not only rare disease, but also cancer and other diseases requiring innovative therapies. In Serbia all the associations have come together in our demands for innovative medicines and we have finally reached and understanding from the institutions for the needs of the patients. For the time being 20 new medicines will be procured through the list of priority innovative medicines.”

Statement – Borislav Gjuric, President of the Rare Disease Association in Bosni and Herzegovina

“Bosnia and Herzegovina are unfortunately in a bad political situation because of all the problems we were facing in the past and have been facing ever since. The separation into cantons is very complicated and in some regions the situation with medicines is very good while in others it is devastating. Macedonia has a simpler political system and it is really incomprehensible why there is not a solution for the cancer patients yet. Personally I think it is literally manslaughter not to provide medicines for a patient whose life could be spared. It is not manslaughter just to kill someone. Health is a basic human right and no citizen should be deprived of it. All countries in the region make efforts to improve the quality of life of patients; we collaborate with all the associations and support regionally each other and we will not give up from the basic human right of life – health. We cooperate with institutions and media as well… one by one we might be few, but together we are many and together our voice is stronger and reaches further.”

To mark the International Gaucher Day, the Macedonian association for rare diseases LIFE WITH CHALLENGES together with the Albanian association organized a meeting on 8-9 October in Struga, Macedonia. At the meeting we had families, patients, doctors and nurses connected to Gaucher disease type 1,2 and 3. Also we had representatives from Genzyme and Pfizer who sponsored this meeting.

Patients talked about their challenges and problems regarding therapy and they shared experiences about what is going on in their countries at the moment, how they were diagnosed, what kind of therapy do they receive, and what kind of tests do they do … they talked about home treatment and will it be a good option to have in future. We have the possibility to also hear a story from a patient who was on a clinical trial on Cerdelga and now he is still on the pill, which was a new experience for all patients. We truly hope for a future where patients together with doctors can choose therapy that is most suitable for the patient and with most quality of life for the patient and the family.

Doctors from both countries (Dr Biljana Coneska Jovanova) had presentations about what is Gaucher disease, and about the patients in the countries (treatment, challenges, future options).
We realized that we face some same and some different problems and that we can help each other to do more for the patients.

The support from EGA is very important, because of EGA we manage to came together and talk, and now there is an association of patients in Albania that will soon join EGA. We agreed that the most important thing in future that we expect from EGA in this region is education of doctors about diagnosis and treatment. We hope to have the next meeting in Albania in spring time and to have guest lecturers – doctors from EU.

The Citizens’ Association for Rare Diseases Life with Challenges continues the tradition to participate in climbing Macedonia’s highest mountain top Golem Korab in 2016.

On the occasion of 8^th of September the traditional climbing of Golem Korab takes place on the 4^th of September, Sunday. ZPK Korab pitched  the flag of the Citizens’ Association for Rare Diseases Life with Challenges on the mountain top.

Statement by Vesna Aleksovska, Chairperson of the Association

We are grateful that the rare disease programme with the Ministry of Health works with a greater budget and encompasses a larger number of diseases, that is to say, more medicines are procured for rare diseases and they literally save families. I sincerely thank the team within the Ministry of Health,  especially Rashela Mizrahi who heads the programme with great dedication and understanding of our challenges. A lot of people are responsible for the advancement in the field of rare diseased in Macedonia, firstly the patients and parents who courageously demand their rights from the media and the institutons. They have received selfless support from the doctors headed by Aspazija Sofijanova, MD, as the chairperson of the Committee for Rare Diseases.

We still face various challenges that we hope will be resolved in cooperation with the institutions. Firstly, it is very important that the tender procedures are realized swiftly and efficiently and patients should not be left to wait 3 to 6 months without treatment as was the case this year. We have understanding for administrative procedures and in return we demand understanding for the needs of patients. No one should be left waiting for something that means life for that person.

Furthermore there is the need to clearly establish how new patients will be registered as well as how new medicines will be introduced in the list in the programme in order to avoid confusion and wandering from one institution to another and again long waiting periods for the patients. These diseases are lifelong, chronical and there is the necessity of an urgent intervention so as to avoid long-term consequences to health and quality of life. Accordingly, if a condition requires combined treatment it should be timely procured and should the patient become resistant to the first-line therapy to provide second or third-line therapy if such therapy exists.

We appeal that it is of utmost importance to provide treatment for patients with rare cancers who do not receive any treatment whatsoever at the moment neither through the MHIF, nor through the cancer programme, nor through the rare disease programme. These cancers are very few and the number of patients is very low and it is necessary to act swiftly to resolve the issue with these patients. Their families suffer quietly looking for hope through donations and alternative treatments.

In case where there is no treatment available and there is a need of orthopedic devices they should also be provided through the MHIF and the reimbursement should be alleviated with a statement which would be issued twice a year and not each month. Some disabled patients have the need of a personal assistant and assistance after the age of 26 and we appeal for this to the Ministry of Labour and Social Policy. All institutions should work together to resolve all the issues and challenges which the families with rare diseases are faced with.

Where necessary patients should be provided with the opportunity to receive treatment at home or in a hospital in the cities where they live in order to lower the costs of both patients and clinics as well as the time necessary to access treatment.

Finally I have to point out the importance of carrying out the procurement through suitable distributive channels so that to avoid problems with the quality of medicines, that is to say, to have additional requirements when there is a case of parallel import of medicines where a certificate of quality and origin shall be requested. This should be so in order to avoid additional patient suffering as was the case with the patients with Gaucher who were left without treatment for 6 months and for which there is still no reply from the Agency of  Medicines which withdrew the medicines in order to investigate their quality after a strong allergic reaction with a child suffering from Gaucher.

This activity is carried out in order to raise the public awareness regarding the rare diseases in Macedonia and the challenges the people with rare diseases and their families   face daily. For this activity we are grateful to ZPK Korab and its chairperson Ljubomir Kotevski who accepted the idea wholeheartedly from the very beginning.

We are grateful to all those who have supported us so far and we continue the cooperation. We hope to make our contribution as an association to the future for the people with rare disease and to create a future that they desire.