News/Press Releases

In 2019 we continued with our tradition to participate in the Skopje Marathon and raise awareness on rare diseases. This was done with support from the group Skopje Night Running. For the first time we started in 2013 and here we are 6 years later still running for better life.

On 4^th of May, 2019, around 50 participants ran on 5, 21 and 42 kilometers for the patients that have no available therapy. We hope for a better future for families that face life with rare diseases.

Statement from Vesna Aleksovska, president of LIFE WITH CHALLENGES

„This year we run for the patients that have no existent therapy. From 8000 rare diseases, only 5% have available therapy that improves their life. Others face diagnosis that need additional social and health services and inclusion in society. This year we run for better rehabilitation (physical and mental), for available psychological support, for emotional support, physiotherapy at home, day centers in more cities, we want patients to be included in clinical studies, to have a possibility for compassionate use of drugs. In our association there are around 100 different diagnosis. For a lot of them there is no therapy in the world. One of those is Ichthyosis, others are Epidermolysis Bulossa, Friedrich Ataxia, Allagile syndrome, Muscular dystrophy, Churg Strauss, Gillian Bare syndrome, Alport Syndrome, ALS Lu Gerick syndrome, Huntington disease, Neurofibromatosis, Rendu-Osler Weber syndrome, Barter syndrome, Lowe syndrome, Williams’s syndrome, Aspergillosis, West syndrome and many others … We will continue to communicate and cooperate with institutions to provide appropriate social and health care services for rare disease patients. These families deserve multidisciplinary approach to disease management and holistic care. In the past 10 years we should that things can change for the better and we will do even more further, together all of us patients and families.”

Statement, Josif Mishevski, patient with Ichthyosis

„I am just one of the patients with rare diseases where there is no treatment that can significantly improve my condition. Our society needs to make steps towards inclusion of these people. The month of May is a month for raising awareness on my diseases and last year we made a short video showing the challenges and problems that patients face. “

Statement, Iskra Toseva, Skopje Night Running

„We started supporting patients with rare diseases years ago and we will continue this tradition. With our initiative we hope that others will join the cause and support families that face life with rare diseases. Every person deserves a chance for better life.”

Call for Abstracts – poster presentations

7th SoutheEastern European Rare Disease Conference, Ohrid 7-9 June 2019

 The program for the meeting is available on the following link

7th Rare Diseases in South East Europe Meeting 7-9 June, 2019

SCIENTIFIC INFORMATION

Official languages is English.

 CALL FOR ABSTRACTS

The Organising Committee invites authors to submit Abstracts for consideration for presentation and inclusion in the programme.

 SUBMISSION

Abstract must be submitted electronically through the following e mail address <vtasic2003@gmail.com>, no later than May 1st, 2019.

 STYLE

Spacing: Abstracts must be typed at 12 points, in Times New Roman, single-spaced in English and should contain no more than 300 words, including the title, authors, institutions and the body of the abstract (Introduction, Methods, Results, Conclusion).

LAYOUT

Title: In capital letters, neither underlined nor bold. Do not identify yourself in the title.

Author(s): Not in capital letters. Write the initials of first names first, and then family names. Only the presenting author must be underlined. The underlined name must be the same as indicated in the address for correspondence.

Affiliation: Not in capital letters. When more than one institution is mentioned, please identify them with superscript numerals and not with symbols (e.g. P. Dow1, G. Sute2, 1University of Leeds, 2University of Berlin, etc.).

Text: Tables are only accepted without gridlines. Use only well-known abbreviations or explain abbreviations the first time they appear.

Conditions: The material in the Abstract must be original and must not have been published or presented previously at an international meeting.

ACCEPTANCE

Authors will receive a notification of acceptance or rejection for presentation by 20 May 2019.

 Е-POSTER PRESENTATION

The Electronic poster presentations will be shown on a plasma screen during the congress and will be presented by the authors at the poster sessions.

On Behalf of the Organization Committee of the 7th South Eastern European Rare Disease Conference

Prof. Velibor Tasic

Organizers:

“Life with Challenges”

Research center for genetic engineering and biotechnology “Georgi D. Efremov”  and

Macedonian Academy of Sciences and Arts

Macedonian Society for Rare Diseases

University Children’s Hospital Skopje

REGIONAL MEETING in Struga, Hotel Drim, North Macedonia, 7-9 June, 2019

Gaucher regional meeting

Together towards the improvement of diagnosis, treatment, and management

(in cooperation with the Gaucher  organizations from the region)

Participating countries: North Macedonia, Serbia, Croatia, Albania, Bosnia and Herzegovina, Bulgaria, Montenegro, Slovenia (additionally there are invited guests / patient advocates from Ukraine, Romania, EURORDIS representative, IGA representatives, Regional Manager from Czech Republic)

07.06.2019 Friday

15.00 – 17.00 – Meeting of organizing and scientific committee

20.00 – 23.00 – Cocktail dinner at the hotel for all participants

08.06.2019 Saturday

8.00 – 9.00 – Registration of participants

9.00 – 10.10 – Welcome and introductions

• Elizabeta Gjorgievska, First Lady of the Republic of North Macedonia
• Venko Filipce, Minister at Ministry of Health of the Republic of North Macedonia
• Jagoda Shapaska, Vice president of the Health commission at the assembly of the Republic of North Macedonia
• Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art
• Zoran Gucev, Macedonian society for rare diseases
• Vesna Aleksovska, President of LIFE WITH CHALLENGES

10.10 – 10.30 – Rare disease patient advocates – challenges and recommendations for solutions in rare diseases in the region from the view of the patients – Davor Duboka, Serbia, NORBS

10.30 – 11.00 – Next generation sequencing in the routine genetic diagnostics: our experience and lessons learnt –Dijana Plasheska Karanfilska,  Skopje, Macedonia

11.00 – 11.30 – Inherited colorectal cancer syndromes –  Aleksandar Dimovski,  Skopje, Macedonia

11.30 – 12.00 Coffee break

12.00 – 12 .35 Situation in the region regarding diagnosis, treatment, and management of Gaucher disease. Representatives from the organizations from the different countries will present the situation in 5 minutes each.

• Macedonia
• Serbia
• Croatia
• Bosnia and Herzegovina
• Slovenia
• Bulgaria
• Albania

12.35 – 12. 50 Regional Manager, Marketa Smockova, International Gaucher Alliance

12.50 – 13.10 Prof.  D-r Nadira Duraković, Croatia, Our experience with Gaucher disease

13.10 – 13. 40 Prof. D-r Mojca Žerjav Tanšek, and  Mirjana Zupančič, mag. med. biochem., Slovenia, Biomarkers for Gaucher disease

13.10 – 14.00 Prof. D-r Zlate Stojanoski, Hematology Clinic, North Macedonia, Current situation in management for Gaucher disease

14.00 – 15.00 Lunch break

15.00 – 16.00 Prof. D-r Timothy Cox, UK, Gaucher disease – Oral therapy

16.00 – 16.20  D-r Ermira Dervishi, Albania, Gaucher disease

16.20 – 16.40 Prof. D-r Milan Lakočević, Serbia, Clinical trial -what are they, how are they done?

16.40 -17.00 Closing remarks, discussion  conclusions from the day

20.00 – 23.00 Dinner

09.06.2019 Sunday

8.00 – 11.30 Workshops

• Families – the group will be led by Biljana Jovanović
• Patients – the group will be led by Irena Žnidar
• Medical professionals – the group will be led by Jasenka Wagner

11.30 – 12.00 Coffee break

12.00 – 14.00 Feedback from workshops, discussions, Q&A, evaluation and closing

14.00 – 15.00 Lunch and departure of participants

 This meeting is supported by European Organization for Rare Diseases and International Gaucher Alliance

Vesna Aleksovska

President of the Association of citizens for rare diseases,
Life With Challenges – Bitola

Tel: +389 (0)70 70 54 46

e-mail: zivotsopredizvici@gmail.com ; vesna.stojmirova@gmail.com

REGIONAL MEETING ON RARE DISEASES MACEDONIA

7-9th of  June 2019, Hotel Drim, Struga, North Macedonia

Regional meeting for rare diseases patient advocates

Bringing together health and social care services for families with rare diseases

(in cooperation with the organizations for rare diseases from the region)

Participating countries: North Macedonia, Serbia, Croatia, Albania, Bosnia and Herzegovina, Bulgaria, Montenegro, Slovenia (additionally there are invited guests/patient advocates from Ukraine, Romania, EURORDIS representatives, and in the scientific program lecturers from EU and Adria region countries)

07.06.2019 Friday

15.00 – 17.00 – Meeting of organizing and scientific committee

20.00 – 23.00 – Cocktail dinner at the hotel for all participants

08.06.2019 Saturday

8.00 – 9.00 – Registration of participants

9.00 – 10.10 – Welcome and introductions

• Elizabeta Gjorgievska, First Lady of the Republic of North Macedonia
• Venko Filipce, Minister at Ministry of Health of the Republic of North Macedonia
• Jagoda Shapaska, Vice president of the Health commission at the assembly of the Republic of North Macedonia
• Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art
• Zoran Gucev, Macedonian society for rare diseases
• Vesna Aleksovska, President of LIFE WITH CHALLENGES

10.10 – 10.30 – Rare disease patient advocates – challenges and recommendations for solutions in rare diseases in the region from the view of the patients – Davor Duboka, Serbia, NORBS

10.30 – 11.00 – Next generation sequencing in the routine genetic diagnostics: our experience and lessons learnt –Dijana Plasheska Karanfilska,  Skopje, Macedonia

11.00 – 11.30 – Inherited colorectal cancer syndromes –  Aleksandar Dimovski,  Skopje, Macedonia

11.30 – 12.00 Coffee break

12.00 – 14.00 Public health finance and rare disease drugs – Moderator Davor Duboka

• 12.00 – 13.10 – Examples from the countries from the region (Serbia, Macedonia, Bulgaria, Croatia, Bosnia and Herzegovina, Albania, Monte Negro)
• 13.10 – 13.30 Simone Boselli, EURORDIS (European Organization for Rare Diseases)
• 13.30 – 13.50 Lecture on public health finance – Vladimir Dimkovski
• 13.50 – 14.00 Discussion and conclusions on different kinds of public funding for rare disease drugs (what is the best solution)

14.00 – 15. 00 Lunch break

15.00 – 16.30 Social services in the region – Moderator Ivana Badnjarevic

• 15.00 – 15.30 Prof. D-r Rumen Stefanov, Bulgaria, Center for rare diseases
• 15.30 – 15.50 Vlasta Zmazek, Debra Croatia, Importance of holistic care
• 15.50 – 16.20 Helpline for rare diseases – experience in the region – Croatia (Ivana Hrastar), Republic of North Macedonia (Vesna Aleksovska) and Serbia (Andrea Nenadic)
• 16.20 – 16.40 Danijela Szili, RET Syndrome Europe, What is there, when treatment is not existent?
• 16.40 – 17.00 Discussion, closing remarks

20.00 – 23.00 Dinner 

09.06.2019 Sunday

8.00 – 9.30 Conclusions from previous discussions, introduction to the program, short discussion among participants, Moderator Anja Bosilkova Antovska

9.30 – 11.30 HTA,  Clinical trials/Drug development / Organ transplant

• 9.30 – 10.00 Prim Dr Neda Milevska Kostova, International Alliance of Patient Organizations (IAPO), UK, and Studiorum, North Macedonia, Involvement of patients in health research and the role of IAPO
• 10.00 – 10.30  Biba Dodeva, Association against cancer BORKA, North Macedonia, Do we use HTA in our countries?
• 10.30 – 11.30  Pavlinka Nesovska, Baliska, NEFRON, North Macedonia, Organ transplant

11.30 – 12.00 Coffee break

12.00 – 14.00 Conclusions, discuss, plans for future regional cooperation under EURORDIS

14.00 – 15.00 Lunch and departure of participants

 This meeting is supported by EURORDIS

Vesna Aleksovska

President of the Association of citizens for rare diseases,
Life With Challenges – Bitola

Tel: +389 (0)70 70 54 46

e-mail: zivotsopredizvici@gmail.com ; vesna.stojmirova@gmail.com

7th South East European meeting on rare diseases

First Congress of the Macedonian Society for Rare Diseases

Sharing knowledge – improving cooperation

 LIFE WITH CHALLENGES,

Macedonian Society for Rare Diseases;

And Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

Organizing Committee:

Zoran Gucev – President, Velibor Tasic – Secretary, Vesna Aleksovska, Aleksandra Jancevska, Gordana Loleska, Bojan Teov

Scientific Committee:

Aleksandar Dimovski, Momir Polenakovic, Zoran Gucev, Velibor Tasic, Dijana Plaseska Karanfilska, Katerina Stavric, Irina Panovska Stavridis, Bojko Bjelakovic, Kristina Mironska, Vesna Ambrakova

Participating countries: North Macedonia, Serbia, Croatia, Albania, Bosnia and Herzegovina, Bulgaria, Montenegro, Slovenia

07.06.2019 Friday

15.00 – 17.00 – Meeting of organizing and scientific committee

20.00 – 23.00 – Cocktail dinner at the hotel for all participants

08.06.2019 Saturday

8.00 – 9.00 – Registration of participants

9.00 – 10.10 – Welcome and introductions

• Elizabeta Gjorgievska, First Lady of the Republic of North Macedonia
• Venko Filipce, Minister at Ministry of Health of the Republic of North Macedonia
• Jagoda Shapaska, Vice president of the Health commission at the assembly of the Republic of North Macedonia
• Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art
• Zoran Gucev, Macedonian society for rare diseases
• Vesna Aleksovska, President of LIFE WITH CHALLENGES

10.10 – 10.30 – Rare disease patient advocates – challenges and recommendations for solutions in rare diseases in the region from the view of the patients – Davor Duboka, Serbia, NORBS

10.30 – 11.00 – Next generation sequencing in the routine genetic diagnostics: our experience and lessons learnt –Dijana Plasheska Karanfilska,  Skopje, Macedonia

11.00 – 11.30 – Inherited colorectal cancer syndromes –  Aleksandar Dimovski,  Skopje, Macedonia

11.30 – 12.00 Coffee break – poster presentation available on electronic panels 

12.00 – 12.40 – Sphingolipids: a conspectus in health and disease – Timothy Cox,  University of Cambridge, UK

12.40 – 13.20 – Skeletal dysplasia in MPSs diseases – Christina Lampe, University of Giessen, Germany

13.20 – 14.00 – TTR – Familial Amyloid Polyneuropathy

• Stayko Sarafov, Sofia, Bulgaria
• Macedonian experience with diagnosis and treatment of FAP patients – Ivan Barbov, Skopje, North Macedonia

14.10 – 15. 00 Lunch break – poster presentation (electronic panels)

15.00 – 16.00 – Hematology section on rare diseases

•  Overview of the hematological rare disease and experience with orphan drug polatuzumab – vedotin, Irina Panovska Stavridis, Skopje, North Macedonia
•  Aplastic anemia- Experience in the Republic of North Macedonia, Laze Cadievski, Skopje, North Macedonia
•  Diagnosis of mieloproliferative Neoplasms in the Republic of North Macedonia, Marija Popova Labacevska, Skopje, North Macedonia
•  Langerhans cell histiocytosis in adults, overview and case report, Martin Ivanovski, Skopje, North Macedonia
•  Flow cytometry imunophenotyping in diagnosis and contemporary treatment of paroxysmal nocturnal hemoglobinuria (PNH), Dusko Dukovski, Skopje, North Macedonia
•  New treatment modalities in thrombotic thrombocytopenic purpura (TTP), Sanja Trajkova, Skopje, North Macedonia
•  Emicizumab a new treatment option for people with hemophilia A, Svetlana Stankovik, Skopje, North Macedonia

16.00 – 16.20 – Homozygous Familial Hypercholesterolemia in Childhood – The first case report in Southeast Europe – Bojko Bjelakovic, Medical Faculty Nish,  Serbia

16.20 – 16.40 – PHENYLKETONURIA: why newborn screening and early dietary treatment are of crucial importance? – Astrinia Skarpalezou, Greece, National Newborn Screening Dept. Athens, Greece

16.40 – 17.00 – Epidermolysis bullosa  – an overview of medical problems and complications – Slobodna Murat-Sušić, Zagreb University Hospital Centre and School of Medicine, Croatia

17.00 – 17.20 – Diagnostic challenges and modern pharmacological treatment of Idiopathic Pulmonary Fibrosis – Jasna Tekavec Trkanjec, Zagreb, Croatia

*Parallel symposium for physiotherapists in another conference room will be held with Marion Main from 15.30 to 19.00 on physiotherapy for children with Spinal Muscular Atrophy and Muscular Dystrophy. (Importance of physical therapy in patients with Muscular Dystrophy Duchenne, Marion Main, UK)

20.00 – 23.00 Dinner 

09.06.2019 Sunday

8.00 – 8.30 – Conclusions from previous discussions, introduction to the program

8.30 – 8.50 – Growth Hormone Deficiency; Diagnostic Pitfalls and Treatment Outcomes – Liljana Saranac,   Faculty of Medicine, Nis, University of  Nis, Serbia

8.50 – 9.10 – Global issues Sustainable development goals – Liesbeth Siderius, Netherlands

9.10 – 09.40 – Genomic testing in the age of rare diseases: Opportunities and challenges – Todor Arsov, Canberra, Australia

9.40 – 10.00 – Latest research of treatment and care of patients with Spinal Muscular Atrophy – Marco Castillo, Basel, Switzerland

10.00 – 10.20  – Challenges in diagnosis and treatment of patients with GHD in Kosovo – Vjosa Mulliqi Kotori, Prishtina, Kosovo

10.20 – 10.40 – Rare forms of short stature, Zoran Gucev, Skopje Macedonia

10.40 – 11.00  – Clinical significance of life-threatening and chronic hyperammonemias – Danko Miloshevic, Croatia

11.00 – 11.20  – Nephropathic cystinosis – outcome and treatment – Velibor Tasic, North Macedonia

11.20 – 11.40  – Hunter syndrome (HS; Mucopolysaccharidosis type II) – Zoran Gucev, North Macedonia

11.40 – 12.00  –  Coffee break 

• – 14.00 – Poster sessions- poster presentation available on electronic panels

• Unusual presentation of Goldenhar syndrome with renal involvement – Aluloska N¹, Zdraveska N¹, Jovanovska J¹, Tasic V². ¹Neonatology department, University Children Hospital, Skopje, republic of North Macedonia. ²Nephrology department, University Children Hospital, Skopje, Republic of North Macedonia;
• WHIM Syndrome with Partial Phenotype without hypoimmunoglobulinaemia and warts – Mironska Kristina¹, Stavrikj Katerina¹, Kareva Lidija¹, Hasani Arijeta¹, Marodi Laszlo², ¹ Department of immunology, University Clinic for Children`s Diseases, Skopje, R. Macedonia, ² Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Hungary
• Two sisters with Cantu Syndrome and ovarian agenesis – A. Janchevska¹, Z. Guchev¹, V. Tasic¹, V. Ambarkova², O. Jordanova¹, E.C. Prott³. ¹University Children’s Hospital Skopje, Macedonia, ²Faculty of Dental Medicine, Skopje, Macedonia, ³Praxis fur Humangenetik, Wuppertal, Germany
• Everolimus in treatment of Angiomyolipoma and Subependymal Giant Cell Astrcytoma  in patient with Tuberous sclerosis complex-Case report – Irena Rambabova Bushljetikj,  University Clinic of Nephrology-Skopje,  Republic of North Macedonia
• Congenital cystic adenomatoid malformation: a report of few cases – Aluloska N 1 , Zdraveska N 1 , Jovanovska J 1 , Micevska V 2, Jovcevski L 3 , Kocovski G 4, 1 Neonatology department, University Children Hospital, Skopje, Republic of North Macedonia, 2 Pulmology department, University Children Hospital, Skopje, Republic of North Macedonia, 3 University Hospital for childhood surgery, Skopje, Republic of North Macedonia, 4 University Clinic of Gynecology and obstetrics, Skopje, Republic of North Macedonia
• Hereditary motor and sensory neuropathy-type V – Gordana Kiteva-Trenchevska, University Clinic of Neurology, Medical faculty Skopje, North Macedonia
• Potocki-Lupski syndrome in a toddler with early behavioral disturbances – A. Janjikj^a, M. Chavkoska ^a, Z. Gucev^a,  M. Kostovski¹, Gj. Bozinovski^b, D. Plaseska-Karanfilska^b, V. Tasic^a, ^a Medical Faculty, Skopje, Macedonia, ^bMacedonian Academy of Sciences and Arts, Skopje, Macedonia
• Challenges in renal replacement therapy in a patient with active pudenz valve due to spina bifida: case report – Gjorgjievski N, Popovska B, Stojanoska A, Muharemi Sh, Kabova A, Janevski Z, Canevska-Taneska A,Spasovska A, Milenkova M, Bedzeti B, Saidi M, Dzekova-Vidimliski P, Bushletik-Rambabova I. University Hospital of Nephrology Skopje.
• Transtiretin familial amyloid polyneuropathy: report of a family – I. Barbov¹, G. Kalcev¹, F. Stojkovska¹, G. Novotni^{1, 1}University Clinic for Neurology, Skopje, North Macedonia,
• Non – bullous congenital ichthyosiform erithroderma: case report – E. Zisovska¹ G. Kalcev¹ J. Misevski², ¹University Clinic for Gynecology and Obstetrics, Skopje, N. Macedonia.² Ministry of Health, Skopje, North Macedonia
• Dental management of patient with Von Willebrand disease  – V Ambarkova¹, J Nikolovska¹, A Janchevska², Jovanovska A², Ambarkov J^3, 1University St. Cyril and Methodius, Faculty of Dental Medicine, Skopje, Republic of Macedonia, ²University St. Cyril and Methodius, Faculty of Medicine, University Children’s Hospital, Skopje, Republic of Macedonia, ³Student at University St. Cyril and Methodius, Faculty of Medicine, Skopje, Republic of Macedonia

• Prosthodontic solution of totally edentulous patient with Sjögren syndrome – Stavreva B¹,  Kapusevska ¹, J. Bundevska ¹, V. Korunoska Stefkovska ¹, N. Toseska Spasova ², V. Ambarkova^{3 1}Department of Prosthodontics, ²Orthodontics, ³Pediatric and Preventive Dentistry, Faculty of Dentistry, Skopje, North Macedonia,
• An adolescent with isolated hypoparathyroidism (IHPT) with hypomagnesemia – Kostovski M ¹ , Janjikj A ¹ , Gucev Z ² , Tasic V ², ¹ Medical Faculty, University Ss Cyril and Methodius of Skopje, Skopje, North Macedonia, ² University Paediatric Clinic, Medical Faculty Skopje, North Macedonia
• Newborn screening for cystic fibrosis in RN Macedonia: results of a pilot study. S.Fustik¹, V. Atanasovska², A. Stamatova¹, L. Spirevska¹,  M. Pesevska², M. Terzikj³, D. Plaseska-Karanfilska³. ¹Department for Cystic Fibrosis, University Children’s Clinic, R.N.Macedonia, ²Laboratory for Newborn Screening, University Children’s Clinic, R.N.Macedonia, ³ Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov;
• Infant with restrictive cardiomyopathy due to double heterozygosity for TTN mutations. V. Jovanovska,¹ D. Plaseska-Karanfilska,² M. Dimishkovska,² R. Kacarska,¹ K. Kuzevska Maneva,¹  B. Gjurkova Angelovska,¹ M. Neskovska Shumenkovska ¹. ¹ PHI University Clinic for Children Diseases- Skopje, ² Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, MASA, Skopje, R.N. Macedonia;
• Malrotation as a rare cause of prolonged vomiting in a young infant. Jovanovska J¹, Zdraveska N¹, Ziberi J², Trajkovski Z³, Aluloska N¹. ¹Neonatology department, University Children’s Hospital, Skopje, Republic of North Macedonia, ²University Hospital for Pediatric Surgery, Skopje, Republic of North Macedonia, ³ Clinical Hospital Adzibadem Sistina, Skopje, Republic of North Macedonia;
• Central hypothyroidism with pituitary enlargement and no gene alterations – D. Trajanova ^a, M. Vezenkoska ^a, Z. Gucev ^a, M. Krstevska-Konstantinova ^a, A. Janchevska ^a, ¹ Medical Faculty, Skopje, North Macedonia
• “Atypical” typical hemolytic-uremic syndrome – K. Dervishov, B. Teov, K. Bundovski, E. Sahpazova, N. Emini, University Children’s Hospital. Medical School, Skopje, Macedonia
• Postpartal depression with rare disease – case report – Lj. Damjanovikj¹, L. Trpeska-Poposka², ¹HPI-Skopje, Polyclinic Bit Pazar, ²HPI Skopje, Institute for Mental Health for Children and Youth
• Multi-cystic dysplastic kidney with complete prenatal resolution of the cysts – K. Bundovski, K. Dervishov, E. Sahpazova, N. Aluloska, University Children’s Hospital, Medical School Skopje, North Macedonia

14.00 – 15.00 Lunch and departure

For 2019 the association for rare diseases LIFE WITH CHALLENGES had different events in different cities.

In Bitola we organized an event on 21st of February, together with HEPAR Center Bitola, with the support of Center for Culture Bitola, Municipality of Bitola, and two high schools – Josip Broz Tito and Jane Sandanski.

We had a showing of the film “The Faces of Lafora”, where also the director Denis Bojik, was present for a discussion about the difficult life of families with rare diseases, for which there is no treatment available in the world.

In Ohird, on 22nd of February, we also had a showing of the film “The Faces of Lafora” and after that we had a party where people were coloring their faces in support of rare diseases. The event was organized by Gordana Loleska and supported by the citizens of Ohrid.

In Skopje on 28th of February we supported the Macedonian association of medical students in organizing lectures for the students about rare diseases. 300 students  were in the audience. We are happy that so many are interested in rare diseases.

LIFE WITH CHALLENGES also supported the event organized by the National Alliance for Rare Diseases of Macedonia on 28th of February, with a goal to fight together for national strategy for rare diseases in Macedonia.

We are learning about rare diseases: 28 days in February for 28 rare diagnosis: 

In February, the month that patients with rare diseases call it rare month, we will try to educate about 28 different rare diseases. The statistical data about rare diseases in Macedonia is not yet official as the registry is a work in progress. We estimate that there are over 2000 patients that face life with a rare disease in Macedonia with over 100 different diagnoses.

let’s try and learn the challenges and problems around diagnosis, treatment, disease management, access to orhpan drugs …

What RARE means?

Rare means to search for diagnosis from months to over 10 years, it means knowing that there is a treatment but it is not accessible in your country, it means that it is very expensive to have a disease, it means not knowing anyone in your country with the same disease, it means search for someone like you … Rare means when you ask your doctor about your diagnosis, he is searching on the internet to let you know what it is … Rare is when you have to explain what your disease is, to explain that you are not imagining pain, … rare means a day filled with struggle to finish your everyday activities, .. rare means to be one in thousands of people and when you find people with your disease you feel like you found a family … Rare is when you can’t plan your future. …

This is why Super Radio, Gordana Loleska and LIFE WITH CHALLENGES this February will share information about rare diseases in R. Macedonia. This is just hoping to learn more and be informed.

28 days in February for 28 rare diagnoses 

First time, Rare disease day was marked in 2008 on 29th of February. Now every year, the last day of February is Rare disease day.

Rare disease day is international campaign for raising awareness on rare disease. From 2008 until today, thousands of events are happening all around the world. It began as a EU event and now it is global, 90 countries from all over the world marked this day in 2018.

R, Macedonia for the first time, marked this day with an event in 2012.

The campaign for RDD is for the public, for the institutions, the patients, the organizations, the medical professionals, the researchers, the students .. everyone is welcome to join in …the more the better.

RDD is a possibility for the participants to be a part of the global call towards the policy makers, the researchers, the pharmaceutical companies, the medical professionals so that patients will be more involved in the research on rare diseases.

This years the theme of the events is – Connecting Health and Social services.

Also we are continuing with the campaign  #ShowYourRare for the social media. People from all over the world are painting their faces showing how rare they are for Rare Disease Day.

Join us!

 Download links:

 for video:

https://www.sendtransfer.com/download.php?id=e69a2e597d48220120c7a5c3d13ff610&email=3878382

Note: the link will be active 14 days from 29.01.2019

for radio:

https://wetransfer.com/downloads/7042c52bf627536d75735cfaf7f9619b20190129094458/d5b67070569419687398d3998af74c0220190129094459/7e72c9

Note: the link will be active 7 days from 29.01.2019

text and photo for web sites:

https://wetransfer.com/downloads/1e35b69305fc526f6efc90af8c3a253520190129092031/de5017cd328f0a33d239c1d979549f8620190129092031/cdf265

Note: the link will be active 7 days from 29.01.2019

Poster and logo from the project:

https://wetransfer.com/downloads/283cd36259b3cee25be06e27eecb11b220190129130536/e54aba71c4008233e381e6a4111d02d720190129130536/8077c0

Note: the link will be active 7 days from 29.01.2019

It is a pleasure to inform everyone that starting January, this year through the Help line for rare diseases of LIFE WITH CHALLENGES we are providing psychological and psycho-therapeutic support for families with rare diseases.

The HELP LINE is a project that we started since 2013 as a non-formal info line for families that face life with rare diseases. It is an open communication through telephone, Viber, Facebook, e-mail, face to face meetings, family gatherings … and much more … the help line is for informative support, for direction and support through the health and social system so that patients can get the services they need without spending a lot of time through the institutions.

From January, 2019 we signed agreement for cooperation with NEOKORTEX – Center for psychotherapy, psycho-diagnostics, training and education so that we can offer the following services: individual psycho-therapeutic sessions, partner therapy, psychological advice for parents, family therapy, psychological testing and other services needed for the families that face life with rare diseases.

Statement, Vesna Aleksovska, President of LIFE WITH CHALLENGES:

“Supporting the patients in the past ten years, we became aware that psychological support is very important not just for the patients but also for their families. Having a rare disease is not just a burden to the one person that has it, but to the whole family. This is why we decided, part of grant form the Foundation Trajche Mukaetov, that we received at the end of the last year, to be for free psychological and psycho-therapeutic services for the families that face life with rare diseases. In 2019, patients and families with rare diseases can directly contact Ivana Hadzivanova from NEOKORTEKS (psychologists, psychotherapists, educator +38975273768), they can schedule a meeting and get the needed support. We hope that the availability of this service and the guaranteed anonymity will contribute towards greater help and support for the families with rare diseases and for the improvement of their quality of life. Although we are starting with this project in Skopje, we have planned educational workshops for other cities so that further we can start cooperation with other professionals and make a network of support for the families with rare “

Statement, Ivana Hadzivanova, Psychologist, psychotherapist, NEOKORTEKS

“It is a great honor and happiness for me to start this cooperation with LIFE WITH CHALLENGES as an organization that I respect a lot. I am ready in this year, to give all my professional energy in order to improve the mental health and the psychological condition of the people and the families with rare diseases. I am happy to be a part of the support in overcoming the life challenges when you face a rare disease.”

2019 is the year in which LIFE WITH CHALLENGES is marking 10 years of its existence. It will be a year with a lot of news and events and new services for improving quality of life of people with rare diseases.  This is just a part of the news in the HELP LINE, soon, before Rare Disease Day, we will announce other news about services that will be provided through the HELP LINE in LIFE WITH CHALLENGES. But also we will have more news on regional cooperation with doctors and organizations from our region.

Vesna Aleksovska

President of the Association of citizens for rare diseases LIFE WITH CHALLENGES

Тel: +389 (0)70 70 54 46

E-mail: zivotsopredizvici@gmail.com 

Information about the association:

• http://challenges.mk/
• https://www.youtube.com/user/lifewithchallenges
• https://www.facebook.com/LifeWithChallengesi
• https://www.facebook.com/groups/312483895490987/
• https://twitter.com/ZivotPredizvici

International Gaucher Day will be marked at the end of October, with an educational lecture for doctors and meeting for families. Details will follow after 20th October.