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Call for abstracts – Scientific meeting on Rare diseases, 7-9 June, 2019, Struga, Hotel Drim

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


Gaucher regional meeting-Together towards improvement of diagnosis, treatment and management, 7-9 June

 

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

Gaucher regional meeting

(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

19.00 – 22.00 – Cocktail dinner at the hotel for all participants

Gaucher regional meeting program

Together towards the improvement of diagnosis, treatment, and management

08.06.2019 Saturday

Note: 9.00 – 11.30 First part of the program is together with the scientific meeting

8.00 – 9.00 – Registration of participants

9.00 – 9.40 – Welcome and introductions

  • Venko Filipce, Ministry of Health of R. North Macedonia
  • Den Donchev, Health Insurance Fund of North Macedonia
  • Vesna Aleksovska, President of LIFE WITH CHALLENGES
  • Zoran Guchev, Macedonian society for rare diseases
  • Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

9.50 – 10.30 – Electronic rare disease registry for rare diseases, Program for rare diseases – progress in rare disease in North Macedonia –  D-r Suzana Manevska, Prof. D-r Elena Shukarova, Commission for rare diseases at the Ministry of Health of R. North Macedonia

10.30 – 10.50 – Next-generation sequencing in the routine genetic diagnostics: our experience and lessons learned – Prof. D-r Dijana Plasheska Karanfilska, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

10.50 – 11.10 – Inherited colorectal cancer syndromes – Prof. D-r Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

11.10 – 11.30 –  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

11.30 – 12.00 Coffee break

12.00 – 12 .30 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.

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

12.30 – 12. 45 Regional Manager, Marketa Smockova, International Gaucher Alliance

12.45 – 13.05 Prof. D-r Ivaylo Tournev – Bulgaria, Gaucher disease

13.05 – 13. 25 Prof.  D-r Nadira Duraković, Croatia, Gaucher disease

13.25 – 13.50  Prof. D-r Mojca Žerjav Tanšek, and  Mirjana Zupančič, mag. med. biochem., Slovenia, Biomarkers for Gaucher disease

13.50 – 14.10 Prof. D-r Zlate Stojanoski, Hematology Clinic, North Macedonia, Current situation in management for Gaucher disease

14.05 – 15.00 Lunch break

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

16.00 – 16.20  Prof.  D-r Paskal Cullufi, 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
  • Patients
  • Medical professionals

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

 

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 for rare diseases patient advocates, 7-9 June, North Macedonia

REGIONAL MEETING ON RARE DISEASES MACEDONIA

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

Regional meeting for rare diseases patient advocates

(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

19.00 – 22.00 – Cocktail dinner at the hotel for all participants

 

Program

Regional meeting for rare diseases patient advocates

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

08.06.2019 Saturday

Note: 9.00 – 11.30 First part of the program is together with the scientific meeting

8.00 – 9.00 – Registration of participants

9.00 – 9.40 – Welcome and introductions

  • Venko Filipce, Ministry of Health of R. North Macedonia
  • Den Donchev, Health Insurance Fund of North Macedonia
  • Vesna Aleksovska, President of LIFE WITH CHALLENGES
  • Zoran Guchev, Macedonian society for rare diseases
  • Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

9.50 – 10.30 – Electronic rare disease registry for rare diseases, Program for rare diseases – progress in rare disease in North Macedonia –  D-r Suzana Manevska, Prof. D-r Elena Shukarova, Commission for rare diseases at the Ministry of Health of R. North Macedonia

10.30 – 10.50 – Next-generation sequencing in the routine genetic diagnostics: our experience and lessons learned – Prof. D-r Dijana Plasheska Karanfilska, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

10.50 – 11.10 – Inherited colorectal cancer syndromes – Prof. D-r Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

11.10 – 11.30 –  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

11.30 – 12.00 Coffee break

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

  • 12.00 – 12.50 – Examples from the countries from the region (Serbia, Macedonia, Bulgaria, Croatia, Bosnia and Herzegovina, Albania, Monte Negro)
  • 12.50 – 13.10 Simone Boselli, EURORDIS (European Organization for Rare Diseases)
  • 13.10 – 13.40 Lecture on public health finance – Vladimir Dimkovski
  • 13.40 – 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, Supporting patients, the importance of social service
  • 15.50 – 16.20 Helpline for rare diseases – Croatia (Ivana Hrastar), North Macedonia (Ivana Hadzivanova) and Serbia experience
  • 16.20 – 16.40 Danijela Szili, RET Syndrome Europe, What is there, when treatment is not existent?
  • 16.40 – 17.00 Discussion, closing remarks

19.00 – 22.00 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

  • 9.30 – 10.00 Short presentation on drug development and clinical trials
  • 10.00 – 10.30  Do we use HTA in our countries? – Biba Dodeva
  • 10.30 – 11.30  How to get clinical trials in the region?

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

7th Rare Diseases in South East Europe Meeting, 7-9 June, 2019, Hotel Drim, Struga, North Macedonia

First Congress of the Macedonian Society for Rare Diseases 

(in cooperation with Prof. D-r Zoran Guchev and Prof. D-r Velibor Tasik, Prof. D-r Dijana Plasheska Karanfilska, Prof. D-r Aleksandar Dimovski 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

19.00 – 22.00 – Cocktail dinner at the hotel for all participants

08.06.2019 Saturday

8.00 – 9.00 – Registration of participants

9.00 – 9.40 – Welcome and introductions

  • Venko Filipce, Ministry of Health of R. North Macedonia
  • Den Donchev, Health Insurance Fund of North Macedonia
  • Vesna Aleksovska, President of LIFE WITH CHALLENGES
  • Zoran Gucev, Macedonian society for rare diseases
  • Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

9.50 – 10 .30 – Electronic rare disease registry for rare diseases, Program for rare diseases – progress in rare disease in North Macedonia –  Suzana Manevska, Elena Shukarova, Commission for rare diseases at the Ministry of Health of R. North Macedonia

10.30 – 10.50 – Next generation sequencing in the routine genetic diagnostics: our experience and lessons learnt –Dijana Plasheska Karanfilska, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

10.50 – 11.10 – Inherited colorectal cancer syndromes –  Aleksandar Dimovski, Research center for genetic engineering and biotechnology “Georgi D. Efremov”  at Macedonian Academy for Science and Art

11.10 – 11.30 –  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

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, Director of Research and Professor Emeritus in the Department of Medicine, University of Cambridge, UK

12.40 – 13.10 – Skeletal dysplasia in MPSs diseases – Christina Lampe, Rare Disease Center at the University of Giessen, Germany

13.10 – 13.30 – Homozygous Familial Hypercholesterolemia in Childhood – The first case report in Southeast Europe – Bojko Bjelakovic, Medical Faculty Nish,  Serbia

13.30 – 14.10 – TTR – Familial Amyloid Polyneuropathy

  • Prof. D-r Stayko Sarafov, Sofia, Bulgaria
  • Macedonian experience with diagnosis and treatment of FAP patients – Ivan Barbov, Neurology Clinic, Skopje, North Macedonia

14.10 – 15. 00 Lunch break – poster presentation available on electronic panels 

15.00 – 16.00 – Hematology section on rare diseases

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

16.00 – 16.20 – PHENYLKETONURIA: why newborn screening and early dietary treatment are of crucial importance? – Cilinical Nutritionist – metabolic dietitian  – Astrinia Skarpalezou, Greece, National Newborn Screening Dept. Institute of Child Health, A. Sophia Children’s Hospital, Athens, Greece

16.20 – 16.40 – Epidermolysis bullosa  – an overview of medical problems and complications – Slobodna Murat-Sušić, University Department of Dermatology and Venereology, Zagreb University Hospital Centre and School of Medicine, Croatia

16.40 – 17.00 – 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. (Prof. Marion Main, UK, Importance of physical therapy in patients with Muscular Dystrophy Duchenne)

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, Pediatrician&Endocrinologist,  Faculty of Medicine, Nis, University of  Nis, Serbia

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

9.10 – 9.30 –Pompe disease – Prof. D-r Ivaylo Tournev, Bulgaria

9.30 – 10.00 – Genomic testing in the age of rare diseases: Opportunities and challenges – Todor Arsov, Centre for Personalised Immunology, John Curtin School of Medical Research, The Australian National University, Canberra, Australia

10.00 – 10.20 – Latest research of treatment and care of patients with Spinal Muscular Atrophy – Marco Castillo, Basel, Switzerland

10.20 – 11.00 – Initial stabilization of an infant with propionic acidemia – D-r Kaloyan Tsochev, Medical University – Varna, Bulgaria

11.00 11.20 – Vjosa Kotori,

11.20 – 11.40 – Coffee break

11.40 – 12.00 – Rare forms  of short stature – Zoran Gucev, North Macedonia

12.00 – 12.20 – Idiopathic infantile hypercalcemia – Velibor Tasic, North Macedonia

12.20 – 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 V21Neonatology department, University Children Hospital, Skopje, republic of North Macedonia. 2Nephrology department, University Children Hospital, 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
  • Potocki-Lupski syndrome ((dup(17)(p11.2p11.2)) in a toddler with early behavioral disturbances – Anita Janjica, Despina Trajanovaa, Zoran Guceva,  Marko Kostovskiv, Gjorgji Bozinovskib, Dijana Plaseska-Karanfilskab, Velibor Tasicaa 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 – 1University Clinic for Neurology, Skopje, Macedonia, I. Barbov1, G. Kalcev1, F. Stojkovska1, G. Novotni1
  • Non – bullous congenital ichthyosiform erithroderma: case report – 1University Clinic for Gynecology and Obstetrics, Skopje, N. Macedonia. 2 Ministry of Health, Skopje, N. Macedonia, Zisovska1 G. Kalcev1 J. Misevski2
  • 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
  • Dental management of patient with Von Willebrand disease  – V Ambarkova1, J Nikolovska1, A Janchevska2, Jovanovska A2, Ambarkov J3, 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
  • 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 childhood surgery, Skopje, Republic of North Macedonia, 3 Clinical Hospital Adzibadem Sistina, Skopje, Republic of North Macedonia
  • Prosthodontic solution of totally edentulous patient with Sjögren syndrome – 1 Faculty of Dentistry, Department of Prosthodontics, Skopje, Macedonia, 2 Faculty of Dentistry, Department of Orthodontics, Skopje, Macedonia, 3 Faculty of Dentistry, Department of Pediatric and Preventive Dentistry, Skopje, Macedonia, Stavreva 1 , B. Kapusevska 1, J. Bundevska 1, V. Korunoska Stefkovska 1, N. Toseska Spasova 2, V. Ambarkova 3
  • An adolescent with isolated hypoparathyroidism (IHPT) with hypomagnesemia – Kostovski M 1 , Janjikj A 2 , 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 R. N.MACEDONIA: RESULTS OF A PILOT STUDY. S.Fustik1, V. Atanasovska2, A.Stamatova1, L.Spirevska1,  M. Pesevska2, M. Terzikj3, D. Plaseska-Karanfilska3.Department 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. Valentina Jovanovska,¹ Dijana Plaseska-Karanfilska,² Marija Dimishkovska,² Rozana Kacarska,¹ Konstandina Kuzevska Maneva,¹  BetiGjurkova Angelovska,¹ Marija 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 childhood surgery, Skopje, Republic of North Macedonia, 3 Clinical Hospital Adzibadem Sistina, Skopje, Republic of North Macedonia

14.00 – 15.00 Lunch and departure of participants

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

 


Rare Disease Day 2019

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.


Learning about rare diseases

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

 

 


Lectures on rare diseases with Red Cross Gazi Baba

At the end of December, 2018, we organized lectures together with the Red Cross from Gazi Baba, Skopje, in the following schools: VEra Jocikj, Naum Naumovski Borche, DAne KRapchev, Krum Tosev.


The cooperation with the schools was on a high level and we had participants as the professors, psychologist, , director and others. 

They got knowledge and information about how to better help and support families that face life with a rare disease or certain dysfunction.

What we noticed is that in each school there were 1 to 3 people connected to someone with a rare disease. There were a lot of questions and discussion and exchange of contacts so that we can help and support patients and families with rare diseases. We hope to continue this cooperation and have more events on raising awareness on rare diseases.


News in the HELP LINE for families with rare diseases

 

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:

 


International Gaucher Day – Macedonia

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.


Alport Syndrome Balkan Meeting, Ohrid, 29th of August – 1st of September

The citizen association for rare diseases “Life with Challenges” organizes The First Balkan Meeting for Alport Syndrome in Ohrid, Republic of Macedonia from 31st August to 2nd September. The event is organized by Gordana Loleska, Vesna Aleksovska and Velibor Tasich, MD. The event began with an opening addresses from a mother of a child with Alport syndrome, the Minister of Health and the Mayor of Ohrid Municipality.

Statement, Gordana Loleska, activist in LIFE WITH CHALLENGES, mother of a child with Alport syndrome, organizer of the conference:
I am glad that we have here present today institutions, patients and doctors, because together we can achieve more for the families that face a rare disease such as Alport Syndrome. I hope that the families will have the opportunity to talk and to sincerely ask about all they need to know about Alport syndrome in the course of these 3 days. As a mother of a child with Alport syndrome I know what it feels like when the world crashes upon you when you get diagnosis with which you do not know what to do because there is no cure. It remains for us to bear hope that there will be new clinical trials and medicines that will extend and improve life with Alport syndrome.

Statement, Venko Filipche, Minister of Health of R. Macedonia:
I believe that only in such meetings where all the concerned parties are present we can jointly do much more and get good results . Doctors and experts should always be at disposal to patients, as well as to institutions. We will try to improve the life of all patients, citizens of our country. We have started cooperating with the rare disease associations a year ago when we had meetings where all the problems and challenges were genuinely discussed. We have completed some of the tasks, and we are still working on others. The electronic registry has been completed, three new medicines have been procured. Now we are working on improving the diagnostic of rare diseases and procuring new medicines. At a meeting with the Minister of Finance we demanded higher budget for health care as well as for rare diseases. Also, we are working on a special fund with the Chamber of Commerce for creating additional means for medicines for rare diseases.

Statement: Konstantin Georgievski, Vice -Mayor of Ohrid
We are proud to host this Balkan meeting and we are here to support every process of cooperation. I am convinced that during these three days my respected colleagues and experts will offer knowledge and new information that patients and families with Alport Syndrome will find useful and at the same time they will exchange experiences among themselves for further improvement of the treatment of Alport Syndrome in Macedonia. I wish you a pleasant stay in our most beautiful city, Ohrid.

Statement: Vesna Aleksovska, President of the association:

When I first met Gordana Loleska I knew that she was a mother who would fight not only against the disease of her child but also for all the children with rare diseases and she has made it. It is with insurmountable enthusiasm that Ms. Loleska has organized many events around Ohrid to raise public awareness on rare diseases and she has also succeeded to have a post stamp created for rare diseases. I hope that other families will also be encouraged to demand improved quality of life because all citizens deserve a chance for a better life. The Alport Syndrome is a disease for which there is no cure at present; but researchers are carried out and I hope that when it is approved the same will be soon available with us. We must strive towards systematic, long-term solutions that will bring to improve the access to early diagnosis, early treatment and care, and control and follow-up of diseases regardless if they are rare or common.

The present situation with rare diseases in Macedonia

With the creation of the registry and with the increase of finances in the rare disease programme in 2015 and 2016 the procurement of over 29 medicines for 15 different diagnosis was enabled, medicines that until then were not available to patients with rare diseases . 2017 was a year when nothing happened regarding rare diseases. In 2018 we got the electronic registry for rare diseases that should alleviate the registration and follow-up of patients as well as the follow up of the quantity of medicines. This year finally after 7 months we have received 3 new medicines in the rare disease programme. We appeal that the tender procedures are shortened (7 months is really an unexpectedly long period of time for a tender procedure). The resolution of the lack of medicines for rare and other diseases with emergency tender procedures is not the long term solution we desire. The lack of medicines and expecting procurement is an additional stress for both patients and families . We expect that medicines are procured for Spinal Muscular Atrophy as promised and oral therapy for Gaucher patients. Additionally, medicines are needed for pulmonary fibrosis, tablets Fludrocortison are needed for ​congenital adrenal hyperplasia, for Duchenne and Becker muscular dystrophy and others. There always new diagnosis and there is also research and new medicines are being approved in the EU and USA .

From the HIFM we are still waiting for approval for reimbursement for special bandages and band aids for Epidermolisis Bulosa these were promised back in 2016 in February. Also we hope that HIFM will have understanding to put breathing machines on the list of orthopedic aids (for patients who experience breathing aparatus failure and who cannot breathe independently).

Of course, the priority remains for diagnosis, for which still there isn’t reimbursement from HIFM or from the Ministry of Health and we expect that this will be remedied soon. In communication with MASA and the MH we hope that the financial obstacles are soon overcome for receiving diagnosis in Macedonia and abroad.

We are grateful to everyone who has supported us so far and we continue the cooperation in future . We hope that as an association we will contribute towards the future of people with rare diseases so that is the future that they desire.


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