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Rare diseases in the frames of the association

The association of citizens for rare diseases Life With Challenges, is founded by patients and parents that face with life with Gaucher. Later in the association joined patients with Hereditary Angioedema, Allagile Syndrome and others.

The association is representing patients and parents with rare diseases that are members in the association. Rare diseases represented by the association are: Gaucher, Phenylkeotnuria, Hereditary Angioedema, Allagile Syndrome,  Tyrosinemia, Lenox Gastaut Syndrome, Congenital Muscular Dis trophy,  Congenital Cataract, Epydermolysis Bulosa, Carnitine plamitolitransferase deficiency, Pulmonary Hypertension, Adrenomyeloneuropathy, Wilson Diseases, Williams Syndrome, RET Syndrome, Amyotropihi lateral sclerosis – Lou Gehrig’s diseases, Myasthenia Gravis , Huntington disease, Porphyria, malignant paraganglioma feohromocitom tumor, arthogryposis multiplex congenital, Fibrodysplasia ossificans progressiva (FOP), Multiple myeloma, Myelodysplastic syndrome, MPS 4 – Morqio Syndrome,   Strümpell disease – Hereditary spastic paraplegia, Takayasu arteritis, Primary ciliary dyskinesia, Kartagener type, Mastocytosis, Juvenile dermatomyositis, Friedreich ataxia , Acute intermittent porphyria, Cystinuria, Stargart, Lowe Syndrom, Dextocardia Situs inversus, Heurofibramatozis, Phemgus Vulgaris, Wegener’s Granulomatosis, Ehlers – Danhlos Syndrom, Alport Syndrom, Polimiozitis, Mastocitozis, Burgada Syndrom, Fanconi, Niemann Pick C, Chronic inflammatory demyelinating polyneuropathy, Carney Complex,  Erythrodermia Ichthyosiformis congenita, Guillain Barreov Sindrom, Malignant Melanoma, Rendu-Osler-Weber disease -hereditary hemorrhagic telangiectasia(HHT), Systemic vasculitis-Sy.Churg-Strauss, …  and others that will join us and ask for help and support.

Some groups of patients have their own associations and we encourage and support other groups to form associations since we think it is important for each disease to have association or at least a support group.

The association also is a member of the National Alliance for Rare Diseases of R. Macedonia (13 organizations representing different rare diseases and patients rights).  The association does not represent rare diseases that are not registered members in the association.

In Macedonia there are other diagnosed rare diseases. From 2015 there is a register for RD at the Ministry of Health – more about that can be found in the program for RD from 2016 –  Programa za lekuvanje na retki bolesti vo R.M. za 2016. (Translation in English will be available soon)


HAE World Day

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Press Release – 28.02.2013. – Rare Disease Day

Press Release

Rare Disease Day
28th of February, 2013th

The Association of citizens for rare diseases “Life With Challenges” marked the Rare Disease Day, 28th of February and with that it started the campaign for raising public awareness for rare diseases in Macedonia.

This year, except the patients and families that cope with Gaucher, Phenylketonuria, and Alagille Syndrome, towards the association joined patients and families that cope with Hereditary Angioedema (HAE), Morbus Leigh, Epidermolysis Bullosa, Congenital cataract, Tyrosinemia etc.

The president of the association, Vesna Stojmirova, emphasized that the association is opened for all patients and families that are challenged in their lives with rare diseases, and together they should try to step up towards a better future and a higher quality of life.

“Today we are here to support families that live with rare diseases and to revive the hope that the rights of the patients (treatment) will be fulfilled in Macedonia. For no, the condition of treatment is not changed compared to the previous year. Two patients with mucopolysaccharidosis are treated from the Ministry of Health in Macedonia, four patients with Gaucher are being treated by donation from Genzyme (for 4-6 years), one patient with Gaucher is on clinical study through Genzyme. In negotiation with the Ministry of Health in Macedonia we came to reforming of the Commission for Rare Diseases in Macedonia and the chairman of this commission, Aspazija Sofijanova (director of the Children Clinic in Skopje) is today with us. We hope that with the work of the commission we will increase the cooperation with the Ministry for Health in order to find long-term solution for provision of treatment for the patients with rare diseases. Also for some medicines that are available for other diagnosis from the Health Fund in Macedonia, we hope that they will be available for patients with rare diseases that need such medicines in the everyday health care process.”

At the event Mrs. Mary Jo Wohlers, wife of the ambassador of America in Macedonia, was present to support the association and the patients in their efforts as an honorary member of the association.

“If we work together, we will find solutions to the problems that patients face because of rare diseases. The work of the association is very meaningful and alsto the cooperation oof patients, families, and state institutions is a key factor to provide long-term solution for the problems of the patients with rare diseases.”

During the event, the director of the Children Clinic in Skopje, and the chairman of the Commission for Rare Diseases – D-r Aspazija Sofijanova, shared a good news, that one child with Gaucher will start treatment with the help of the Ministry for Health.

“With the establishment of the Commission for Rare Diseases we made a step forward towards supporting the patients with rare diseases, and providing treatment for normal growth and development of the patients. We are on a very good way to accomplish our goals. We can do everything if we believe. “

Mrs. Tanya Colin – Histead, director of the European Gaucher Alliance, emphasized that as a mother of a child with rare disease (Gaucher), she has even stronger motive to support the fight for treatment of the patients in Macedonia.

“Even though we are European Gaucher Alliance, we work through the whole world. Until know we have accomplished a lot, and especially the last years we succeed to move forward regarding the progress of treatment in the neighbor countries of Macedonia. Raising awareness about rare diseases in Macedonia and finding the way for treatment of the patients with rare diseases is also my personal challenge and I hope that we will find solution for treatment of the patients.”

The Association of citizens for rare diseases “Life With Challenges”, will continue with the campaign for raising public awareness about rare diseases in Macedonia and with the efforts for provision of treatment for the patients with rare diseases in Macedonia.

A lot of families that face rare diseases were present at the event for Rare Disease Day, joining together in the efforts for providing a better life for their children.

*The event was supported by: Genzyme, with the PAL award, CONCEPT Marketing and PR, the Medical Faculty, the Children Clinic in Skopje, City Mall and Pelisterka. Students from the Faculty of Pharmacy were volunteering in the organization of the event.


Annual activity report – 2012

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.
1. http://www.dnevnik.com.mk/default.asp?ItemID=6A2E3A7D78373743942077317D4FDEDB
2. http://www.denesen.mk/broj66/
3. http://kanal5.com.mk/default.aspx?mId=37&egId=13&eventId=87829
4. http://24vesti.com.mk/index.php/makedonija/293-makedonija/4774-2012-02-29-15-19-04
5. http://www.plusinfo.mk/vest/35152/Drzhavata-gi-ostavi-na-cedilo-pacientite-so-retki-bolesti
6. http://vesti.alfa.mk/default.aspx?mId=36&egId=6&eventId=46777
7. http://kurir.mk/makedonija/vesti/62626-Alarmantno-Za-deca-so-retki-bolesti-nema-pari-za-terapija
8. http://press24.mk/story/zdravje/%E2%80%9Ezhivot-so-predizvici%E2%80%9C-bara-terapija-za-site-pacienti-so-retki-bolesti
9. Telma television – news- http://telma.com.mk/index.php?task=content&cat=6
10. http://www.sky.mk/makedonija/16355.html?task=view
11. novinska agencija – http://mia.mk/default.aspx?mId=35&lId=1
12. http://vecer.com.mk/?ItemID=CF9BD888BBEDEE4AAE6F86A85D53EFA4
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.

Future activities:

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. .

Sincerely,
Vesna Aleksovska
President od the Association of citizens for rare diseases
LIFE WITH CHALLENGES – Bitola


Rare disease day – 28th of February

On 28th February we will organize a media club/round table with journalists, representatives from the rare disease association “Life With Challenges”, doctor and representatives from the Health Institutions in Macedonia. The association will present its goals and explain the problems/issues of the patients with rare diseases. Further in an interactive discussion the doctors will answer questions from the present audience and they will advice about improving quality of life of the patients.

This event has a goal to raise public awareness and open a dialog between the interested parties. Patients and journalists will have a possibility to talk about the challenges they face every day and about the further activities of the association.

More details about the event … soon …


Program for rare diseases in Macedonia

 

PROGRAM FOR TREATMENT OF RARE DISEASES FOR 2009 IN R. MACEDONIA

Rare or orphan diseases are diseases who appear in 5 cases in 100 000 population. The small number of cases with rare diseases is a limited circumstance for the pharmaceutical industry to undertake further research for these diseases. Although from every rare disease for now there are only few patients, treatment is socially and ethically relevant. The small number of potential patients is limiting for the economical attraction for undertaking, researching and development of treatment for rare diseases. The production process should be on a high level of safety, quality and efficiency as for the other developed treatments for other diseases.

According to the European Regulative for rare medical products (Regulative (E3) no. 141/2000) rare medicine (orphan drug) is defined as treatment a) for the condition that is life threatening and exhausting, b) condition where not more that 5 / 1000 000 persons are affected, or as treatment for which small return is expected economically and in c) condition for which there is no other alternative way of treatment or for which the new treatment will contribute a lot to the patient’s condition (benefits for the patient compared to the situation before treatment).

Unlike for other diseases, health experts have limited knowledge and skills for diagnosing and treatment for rare diseases. The small incidence of these diseases allows only limited number of health experts, usually in specialized centers, to build expertise for diagnose, care and treatment for patients with rare diseases.

Building awareness and expertise for rare diseases on EU level. Controled use of treatment can be connected with creating standardized registers for patients on international level and network of centers for expertise. Registers will allow direct estimate for number and profile of patients for research and budget purposes. Other key benefit of these kind of registers is direct knowledge about where the patients live and how they can be included in research for new treatment, what will be the benefit for them and for the company. At the same time, forming registers for the rare diseases will make easier to generate more data for benefits of further treatment.

This data will also contribute in creating basis for future decisions for prices and reimbursements. All registries and registrations should be in compliance with regulative for data protection and other relevant national regulative. For higher level of benefit, efforts should be coordinated on national and international level.

Early diagnosis for these kind of diseases, which are mostly genetic, is the best guarantee for efficient treatment from the aspect of therapy ant expenses. Therapy is mostly not curative, but usually provides limited or extensive symptomatic support.

National program for treatment of rare diseases has a purpose to provide availability of new treatment for the citizens of R. Macedonia. Until now in Macedonia there are 20 patients with rare diseases. The treatment in most cases is impossible to be provided from the family without any help from the state.

Diagnosis of rare diseases is conducted by experts in the clinics, depending of the nature of the disease, but mostly it is done in the Clinic for Children Diseases. In most cases, tests are done in highly equipped health institutions out of R. Macedonia, so the diagnosis can be confirmed.

Patients with rare diseases are treated in the Clinic for Children Diseases, and adult patients in other clinics. Most rare diseases are result of lack of certain enzymes.

In R. Macedonia the following diseases appear: Morbus Gaucher, Hereditary angioedema, multiple myeloma, phenylketonuria, myelodysplastic syndrome, gastrointestinal stromal tumors, recidivans, acromegaly, gastroenteropancreatic neuroendoc rine tumors, mucopolysaccaharidosis, hereditary tyrosinemia, galacorosemia, and hereditary fructose intolerance.

In the future there may be new diagnosis of other rare diseases and more patients with already diagnosed rare diseases, and they all should be included in treatment according to the medical criteria.

Measures and activities for treatment of patients with diagnosed rare diseases will be undertaken by public health institutions, depending form the nature and character of the diseases and the treatment. Public health institutions are obligated to report regularly to the Ministry of Health about diagnosed patients with rare diseases who are already mentioned in this program and for new diagnosed rare diseases that should be included in the program and therapy and treatment should be provided for them accordingly.

FINANCE NEEDED FOR REALIZATION OF THE PROGRAM

For realization of the program for treatment for rare diseases in R. Macedonia for 2009, with therapy and drugs that are used in treatment for rare diseases in 2009, 27 800 000 Denars are needed in the budget.

Number Activities Unit Total cost
1. Treatment for patients with rare diseases regardless of their insurance state 20 persons 27 800 000

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