Thursday September 24th, 2015

The Association of citizens for rare diseases LIFE WITH CHALLENGES is continuing the tradition of climbing the highest mountain top in Macedonia – Golem Korab in 2015.

For 8th of September, the Independence day of R. Macedonia, traditionally the Association Korab  organized the Climbing of Golem Kkorab, the highest mountain top in Macedonia. The flag of Life With Challenges was on the top together with the flag of Korab. 

This activity is for raising public awareness about rare diseases in Macedonia and about the challenges that families face in their every day life, living with a rare disease. We are thankful to the president of Korab, Ljubomir Kotevski, that supported this idea with an open heart.

Through the program for rare diseases at the Ministry of Health, 21 medicines for rare diseases are already being supplied: Wilson Diseases, Gaucher Diseases, Tyrosinemia, Juvenile Arthritis, Hereditary Angioedema, Tuberous Sclerosis, PKU, ALS, Factor 13, Pulmonary Hypertension and we expect medicines for MPS 4 also. For MPS 2 medicines are already supplied in the past 5 years.  We also expect this program to become bigger and to get more medicines for other rare diseases. The registry of patients with rare diseases is being developed and with registration of new patients, new medicines should be supplied. We should not forget that medicines are not the only thing needed for better quality of life. Many patients need orthopedic devices, special food and many social services. We are thankful that the Ministry of Health started resolving the problems of families with rare diseases and we hope that further steps will follow from the institutions to support better quality of life of patients with rare diseases. – Vesna Aleksovska, President of Life With Challenges. 

At this moment, Life With Challenges is conducting research on rare diseases in cooperation with Studiorum and with support of other organizations and institutions. The goal is to pin point the policies and practices in the field of rare diseases in Macedonia and the quality of life of the patients. The results of this research together with recommendations will be promoted on Rare Disease Day, 2016.

As an association we hope that our continuous educational activities and activities for raising public awareness will contribute towards finding new ways to better support and help families that face rare diseases and cooperate with institutions to overcome the challenges.

The Association of citizens for rare diseases Life With Challenges in cooperation with the preschool Detska Radost Skopje, begin a series of lectures on the subject of rare diseases and special needs under the project called – Life is a puzzle, let’s collect it together for the children joy. We are thankful that the municipality Gazi Baba is supporting this project and we hope that it will be a start of a larger project in the area of education and social inclusion. It is a pilot program intended as an incentive for education of the professional involved in the education system. We hope to raise awareness about specific needs of families that face with rare diseases and special needs and to support discussion about appropriate inclusion of children with rare diseases and special needs in the schools in Macedonia.

Се надеваме дека овој проект ќе развие соработка на здружението со образовните работници, бидејќи како што секогаш кажуваме важна е соработка на секое ниво за подобар квалитет на живот на семејствата со ретки болести.

The first workshop е was realized on 03.03.2015 by Nada Spandzevska on the subject of diagnostic and treatment of speech impediments in children, starting from communication in:

– receptive speech;

-expressive speech.

 The goal of the workshop was:

1. 1.    Introducing parents with the work of the speech therapist

–          Detecting speech impediments in children

–          The way of work of the speech therapist

1. 2.     Introducing parents with the most often speech impediments

The second workshop  was realized on 28.04.2015 on the subject of rare diseases and special needs by Vesna Aleksovska, patient representative.

The goal of this workshop was introduction to the subject of rare diseases, the influence that they have on families and how to find ways to help and support them .

• What are rare diseases?
• Rare diseases in EU and Macedonia?
• Special needs of children with rare diseases?
• How to support families that face life with a rare disease?
• Discussion and questions.

The third workshop по was held on 12 May, 2015, on the subject of Stress in communication of rare diseases.

The subject was focused on the caregivers as it is very important to take care for your own well being while you are taking care of others. Especially when you are taking care of someone with a rare disease or a disability.

When you take care of your self you have more strength to take care of other in the long term. The health of caregivers has influence of everyone around.

That is why this workshop was focused on different tools and ideas for reducing stress and improving well being.

This exhibition was prepared for Rare Disease Day, 2015, from the platform for activism “Lice v Lice”, in cooperation with “Holistic”, the Association of citizens for rare diseases Life With Challenges and the National Alliance for Rare Diseases of R. Macedonia.

Ognen Janeski and Azemina Kurtishi

“Rocketing”

Azemina is the first patient with a diagnosed rare disease Gaucher who has received appropriate therapy from the state.

Without it, this disease in its last stage brings the patients in a state where they cannot move, with discomfort and growing of the liver, osteoporosis and foreseen short lifespan.

Timely diagnosis and proper therapy and the life that was once threatened gets rocket fuel enough to reach the stars.

Ana-Marija and Vera Miloshevska

“Embrace rarity”
Delayed development, affected coordination, breathing, lowered communication and cognitive skills are the characteristics of the RET syndrome, a disease that affects only the female gender.

The colours in Ana-Marijas daily life are difficult to imagine.

Our world, on the other hand, through her eyes seems a bit more predictable; uninterested, uninformed, cold; faces almost lifeless.

What it needs to bring these two worlds together is an embrace, a look, understanding.

Marko Noveski and Andrej Arsov

“Do Hurry up!”

Long and winding is the path of people with rare diseases through the labyrinths in which they fight for the right diagnosis for which they sometimes wait for several years.

Andrej was diagnosed with Alagille syndrome, a disease that attacks the bile ducts, the liver, the heart and other organs, in the first two months after the symptoms occurred.

He and Marko through the game they invented then and there and called it “Confusion” call for initiatives for equal success in the diagnostics of rare diseases.

Iva Petrevska and Dani Dimitrovska

“A bell in a bubble”

A gentle touch, pressure, tiny injury or scratch is a threat to Iva’s skin, as gentle as a bubble. The slightest daily childhood activities are the reason for painful sores on her body that require constant care and dressing; and very often the mucosa of internal organs is affected.

Presently there is no official therapy for epidermolysis bullosa

Viktor Dimitrijoski and Bubo Karov

“Pancakes? No, thank you”

By his appearance and interests Viktor is no different from his peers, but he is different in something else. In his life he has never tasted chocolate, pancakes, ice-cream, walnuts, eggs, soy, meat or white bread. Since he was born he is on a special diet which is extremely expensive. The inability of his organism to process the intake of proteins in the usual way renders him nervous, angry, aggressive and scared of places with too many people and in advanced stages the disease phenylketonuria can bring to physical and mental disability.

Gjurgica Kaeva and Beni

“Blue Lips”

The oxygen is a luxury, as she says. The slightest physical effort, walking, climbing stairs, captures Gjurgica’s breath and the blue lips are the first accompanying sign of this disease.

Pulmonary hypertension is a difficult, progressive disease which first endangers the work of the lungs and then the heart.

It is a disease that can affect all ages and the treatment is very expensive.

The disease does not choose an age, it can be congenital or acquired.

Dejan Angjeleski and Indira Kastratovik

“Challenge”

Swellings on different parts of the body make Dejan’s daily life extremely complicated. The simplest movements can be extremely painfyl and the everyday activities impossible to perform. Some of the swellings can be life-threatening, especially those on the throat or the respiratory tract. The first signs of the disease HAE can occur during childhood and/or adolescence.  The medicine has not yet been discovered for this rare disease, for which there are treatment therapies, unfortunately none of them is available in Macedonia.

Pece, Marta and Viktorija

“Band”

Because of the FOP disease Viktorija’s muscles turn into bones and now she is in a fixed position in her electronic wheelchair.

Strumpell’s syndrome, on the other hand causes muscle atrophy, and thus movement becomes more and more difficult for Marta.

These lovely girls with typical teenage interests love music, are constantly on Facebook and Viber and enjoyed the the make-up and singing for the joint melodious photo with Pece.

Slavche Shopovski and Toni Zen

“Trembling”

Affected coordination, trembling of hands and other uncontrolled movements are the consequences of Wilson’s disease of which 15 people suffer in Macedonia, and the disease occurs between the ages 6 and 12.

Slavche’s organism instead of excreting the excess copper, which cells use for life functions, accumulates it in the liver creating free radicals, which cause problems for the other organs and the brain.

He mustn’t do sports and the medications he has to take are not on the positive list of medicines nor are they registered in the country.

Vesna Aleksovska and Tanja Kokev

“Distance”

A slightly stronger embrace was enough reason for a broken bone or a bruise on her body.

The lack of enzyme brings to the accumulation of gaucher cells in the organs and in the bone marrow. Because of that the organs increase in size and the bones are prone to fracturing. Bruises, fatigue, faintness are all daily possible symptoms of the people with untreated Gaucher’s disease.

Vesna  has been receiving therapy for five years now, her state is stable now and she leads a normal life.

Bojan Chunde and Rebeka
„1:10.000“

Hemophilia cannot be transmitted as cold because it is hereditary or occurs due to genetic change.

If Bojan gets hurt, his wound won’t bleed faster but longer than usual because of the weak factor of coagulation of the protein responsible for coagulation of blood. The disease occurs at 1 to 10.000 people and is characterized with long external and internal bleedings.

In Macedonia there are around 300 registered persons with hemophilia.

Igor Parmakovski and Kristina Arnaudova

“I understand you!”

Pain, discomfort and problems with digestion of food are the main consequences that Igor feels facing Crohn’s disease, which is manifested with inflammation and swelling of the digestive tract. Most of the symptoms of this disease attack the gastrointestinal system, from the mouth to the end of the large colon, but patients also report symptoms that affect the brain and the nervous system.

It is believed the removal of the colon is the cure for the patients with ulcerous colitis. However, the surgical procedure is the “cure” only after all conventional methods of treatment fail to lead to improvement of the state.

The Association of citizens for rare diseases Life With Challenges is continuing with the tradition to run at the Skopje Marathon in 2015.

On 10th of May, 60 participants from Skopje Night Running will run for Life With Challenges.

This activity is for raising public awareness regarding rare diseases in Macedonia and about the challenges that people and families with rare disease face in their everyday life.

We are thankful to all that supported us and we are continuing with the cooperation. We hope that we will contribute as an association for the future of people with rare diseases to be a future that they wish for.

In Macedonia this year the Ministry of Health started development of a register for rare diseases, that will include all the patients with rare diseases in Macedonia. For evaluation of the lists of patients from associations, doctors and citizens, there is an expert commission working together with the commission for rare diseases.This registry will help in setting a basis for future plans and strategies regarding provision of treatment and care for patients with rare diseases in Macedonia. With this we will finally have a number of people suffering from a rare disease. It is estimated that the number can reach 1000.

Also in Macedonia this year additional finance was provided for the Program for Rare Diseases at the Ministry of Health through the new law which states that 1 MKD from a pack of cigarettes is going to the fund for rare diseases for provision of evidence based medicines for patients with rare diseases which until now had no refund of therapy, no access to treatment at all.

Some of the needs of the patients with rare diseases until this year were satisfied through the  Health Insurance Fund of R. Macedonia and we hope that the cooperation between institutions such as the HIFM, Ministry of Health, Ministry of Labor and Social Politics and Ministry of education will continue further to achieve better quality of life of patients with rare diseases and social inclusion. Medicines are not the only need of the patients, they also need special food, medical devices, physical therapy (sometimes at home conditions) etc.

Rare Diseases are complex and the challenges of the patients are many. The road to better life starts with a diagnosis that can take from couple of months to more than 10 years. The next step is the search for therapy, experts for management of the diseases, education, special needs, … handling stress and emotional problems, managing the new way of life for the patient and for the family … The road of rare diseases is a search for multidisciplinary and integrated approach, it requires cooperation between institutions, patient associations, pharmaceutical industry, medical professionals, academic community …

I believe that every patient with rare disease should step forward with his head high up, just because he is different. Having a rare disease, does not mean having something that is happening very rarely, it means that you have a disease that can happen to anyone at any time, without warning. We, the patients with rare diseases, are people, beautiful people, different from the others .. and that does not make us helpless it makes us brave and stronger than the others.

The European healthcare landscape is a dynamic, innovative ecosystem. Industry is increasingly identifying new approaches, solutions and business models that adapt to both mature and emerging growth markets. The pace of innovation is relentless, the potential benefits for society many.

At the same time, this is a highly regulated industry, working to the highest possible standards of safety and trust. Regulatory pathways are also evolving to adapt to the challenges posed by new therapies, new delivery methods and new health challenges.

To maintain user-driven innovation as an attractive investment for all stakeholders, the value chain needs to be ever more cohesive. Healthcare innovators, decision makers, regulators and payers must to work together to shape their environment. Future barriers should be minimised, potential benefits to society maximised and treatments delivered as quickly as possible to the patients that need them.

EuroMeeting 2015
The DIA EuroMeeting 2015 offers the ideal platform for healthcare innovators, patient advocates, decision makers and regulatory professionals to connect. They can network, scope potential new business partnerships and explore options for concrete solutions. This is why the EuroMeeting 2015 offers a significant return on investment for companies seeking to proactively manage a successful shift to a service oriented model.

How will you benefit?
Your core staff will not only learn about current and future market conditions issues. They can also spend time actively networking and building relationships with the regulatory and policy counterparts who are shaping trends. The resulting knowledge transfer and lasting partnerships will reduce the burden of regulatory barriers, benefiting your business now and further down the line.

Who will you meet?
The EuroMeeting attracts:
•    Corporate Executives
•    Pharmacovigilance professionals
•    Clinical development professionals
•    Regulators
•    Decision Makers
•    CRO’s/Consultants

What makes the EuroMeeting 2015 different? 

The DIA EuroMeeting 2015 is unique in presenting a microcosm of the entire drug development process ranging from the policy environment to market uptake and regulation.  It attracts attendees & exhibitors from all stages of the value chain, ranging from those conducting original R&D to the patients benefiting from innovation

– See more at: http://www.diahome.org/en/Flagship-Meetings/EuroMeeting2015/About-the-Conference.aspx#sthash.TxfQPRV1.dpuf

In an intense and stimulating three days, you will not only learn, you will be exposed to fresh thinking and the latest ideas. You will meet not only people you know, but also those that you want to know and those that you should know. – See more at: http://www.diahome.org/en/Flagship-Meetings/EuroMeeting2015/About-the-Conference.aspx#sthash.TxfQPRV1.dpuf

13 patients were attending this conference through the fellowship grant program of DIA. Vesna Aleksovska as a representative of Life With Challenges attended the conference. Patients interested in attending the conference next year are welcome to contact Life With Challenges and ask for information about applying for the fellowship grant.

The Gaucher Expert Summit is an international meeting which brings together, from around the world, healthcare professionals involved in the treatment and management of patients with Gaucher disease with the focus of “Driving Excellence in Patient Care”.

This educational event provides an opportunity to meet with other Gaucher physicians and to exchange views on best practice approaches to the management of patients with Gaucher disease.

Gaucher disease is a rare inherited disease caused by the deficiency, absence or incomplete functioning of an enzyme called glucocerebrosidase. Over time, this can result in the accumulation of a waste substance called glucocerebroside in cells, causing progressive damage to tissues and major organs including the spleen, liver and bones.

The Gaucher Expert Summit is an educational meeting dedicated to Gaucher disease. This international meeting brings together healthcare professionals involved in the treatment and management of patients with this rare condition.

With world-class faculty and through plenary lectures, lively panel debates and interactive workshops, delegates have the opportunity to engage, discuss and learn.

At this Gaucher Expert Summit, ‘Gaucher disease – Driving excellence in patient care’, an exciting and informative programme has been created to examine the key steps involved in delivering effective care for patients with Gaucher disease.

The international multidisciplinary faculty  discussed a range of topics that include:

• Strategies for earlier diagnosis
• Quality of life assessment
• Optimising therapeutic management over the long term

Chairs of this meeting were Professor Ari Zimran and Professor Hans Aerts.

This year the event was held from 17 to 18 of April in Amsterdam. Vesna Aleksovska was attending the event invited as a Board Member of the European Gaucher Alliance.

The GLF is a scientific meeting sponsored by Genzyme that brings together approximately 200 participants from around the world, including physicians, academics, researchers and patient organization representatives to discuss current care for patients with Gaucher disease and the direction of future disease management. This year’s GLF will be chaired by Timothy M. Cox, Professor of Medicine at the University of Cambridge. The theme for 2015 is: “New Clinical Science of Gaucher Disease” and will focus on the following objectives:

• Advancing therapeutics through greater understanding of pathogenesis (molecular & otherwise)
• Fostering collaborative and interdisciplinary research
• Inspiring (recruiting) the next generation of clinician researchers and scientists

“In designing this year’s GLF program, we have sought to encompass the hugely diverse aspects of Gaucher disease as they impinge on the lives and well-being of patients all over the world. It is chastening to realize that despite radical improvements over the last 25 years, many aspects of this condition remain very hard to treat; and even when the diagnosis eventually has come to light, not every patient can gain access to the best standards of care,” said Prof. Cox. “This meeting will give time for open sharing of experience and seeks to explore under-recognized aspects of the disease that are often neglected in the heat of routine practice.”

The opening plenary session highlighted the most recent scientific discoveries in the field of Gaucher disease research. Additionally, several interactive working groups have been established to focus on: (1) Spectrum of Clinical Manifestations in Gaucher Disease; (2) Gaucher Disease Type 3: Addressing Patients’ and Families’ Concerns; (3) Unmet Needs in the Assessment of Bone Disease in Gaucher; and (4) Gaucher Disease and Cancer: Mechanisms and Management.

“The GLF is an excellent example of global collaboration and partnership, with the Gaucher community working together to propel research forward and further our understanding of Gaucher disease,” said Genzyme’s Acting Head of Rare Diseases, Richard Peters, MD, Ph.D. “While much progress has been made, great need still exists, particularly around the neuronopathic forms of Gaucher disease. We look forward to lively discussion while we work to achieve our collective goal to support the needs of the global Gaucher community.”

From Macedonia, Vesna Aleksovska attended the forum, invited as a member of the Board of Directors of the European Gaucher Alliance.

EUPATI is a patient-centered team of 30 organizations, led by the European Patients’ Forum, with partners from patient organizations (The European Genetic Alliance, the European AIDS Treatment Group, and EURORDIS), university and not-for-profit organisations expert in patient and public engagement, along with many European pharmaceutical companies. The common goal is to help patient advocates be more educated and involved in health care.

The European Patients’ Academy (EUPATI), will provide scientifically reliable, objective, comprehensive information to you on the research and development process of medicines. It will increase your capacity to be effective advocates and advisors, eg, in clinical trials, with regulatory authorities and in ethics committees. It will also offer patients and the public basic information, training and education around health issues.

EUPATI aims to make a visible difference, showing you ways that you can have a more meaningful involvement in areas like drug discovery, the safety of medicines and access to treatments. We want to raise public awareness, your awareness, and make you better at navigating your health system. Find out more about the European Patients’ Academy on the link below.

http://www.patientsacademy.eu/index.php/en/

The first training course is already happening with 50 participants from all around EU. From Macedonia we have a participant from Life With Challenges. We hope to realize a basic training in Macedonia next year after the course ends and we translate materials in Macedonian language.

Next training course is starting at the end of this year.

At the congress you will also have a possibility to see the exhibition Hug Rarity developed by Lice v Lice, NARDM and Life With Challenges.