I became aware of the existence of these diseases only when my nephew Luka fell ill with one of them. Luka has a deficiency of tyrosine hydroxylase, a rare neurometabolic disease characterized primarily by movement disorders, unstable blood pressure, variations in body temperature and abnormal eye movements.
This is what Luka looked like a year ago when he was finally diagnosed. He was 2.5 years old at the time, he could neither sit on his own nor could he perform some movements willingly.
Fortunately, there is a therapy for Luka's illness. Thanks primarily to the NORBIS organization, he was able to see the right doctors and start receiving rhe appropriate therapy.
https://drive.google.com/file/d/1TqMKJnz2RKZJaFYkdAHjV-dA4C_Q8TZ2/view?usp=sharing
Today, Luka is a boy who walks independently, a curious and cheerful child who can finally explore the world around him. Of course, there is still a long way to go before he recovers completely, but the results of the therapy are more than obvious.
These are pictures of what Luka looks today.. If you click on the link under the pictures, you will be able to see a video of Luka walking to get to his dad who is waiting for him with his arms opened.
Of course, I have the permission of his parents to publish these pictures and the video, in order to raise awareness about this issue.
There are still many who, like Luka, suffer from diseases that aren't very well-known. To raise awareness, I'll tell you something about rare diseases.
Rare diseases.
A rare disease is classified as any disease that affects up to 1 in 2,000 people.
According to the estimates of the
European Commission estimates that 6% to 8% of the population suffers from a rare disease. We also use in estimate in Serbia.
In Serbia, it is estimated that about half a million citizens live with a rare disease.
The most important characteristics of rare diseases:
-80% of rare diseases are of genetic origin; they often occur due to infections, allergies, the influence of the factors found in the surrounding environment or are generations and proliferative.
-In 50% of people with rare diseases, the first symptoms of the disease appear at birth or in early childhood.
-30% of children with rare diseases live less than 5 years.
-There is no registered therapy for more than 95% of rare diseases.
-The most common consequence of rare diseases is permanent disability.
Despite their differences, people with rare diseases and their families face the same number of difficulties that arise from rarity:
-Unavailability of diagnosis or years of searching for a diagnosis
-Lack of information: about the disease itself, where to get help for it, including the lack of qualified specialists
-Lack of scientific research, lack of medication and appropriate medical aids
-The high costs of existing drugs and treatments that lead to family poverty and reduced access to treatment
-Social consequences: stigmatization, isolation, discrimination, lack of professional opportunities
-Lack of quality health care: exclusion from health care, even when the correct diagnosis is made
-Inequality: encountering administrative barriers in trying to treat or exercise social protection rights
What is NORBIS?
The National Organization for Rare Diseases of Serbia - NORBS was founded on July 23, 2010, as an association of associations that deal with issues people with rare diseases and their family members face.
The main goal of the National Organization for Rare Diseases of Serbia is to improve this population's position and quality of life.
Objectives of NORBIS:
-unified representation of the interests of persons with rare diseases and persons with disabilities resulting from a rare disease in Serbia and unified appearance before decision makers and other actors in society;
-protection and realization of basic human rights, elimination of discrimination and realization of equality, equality and social inclusion of persons with rare diseases and persons with disabilities caused by a rare disease;
-commitment to decision makers in Serbia to accept and apply international and European standards, principles and documents in the field of rare diseases, in order to provide persons with rare diseases and persons with disabilities resulting from rare diseases the highest possible quality of life;
-advocating for the adoption and implementation of national policy in the field of rare diseases and the reform of national legislation in accordance with the needs and interests of persons with rare diseases and persons with disabilities resulting from rare diseases;
- providing, through national policies and legislation, special support to families whose members are persons with rare diseases and persons with disabilities resulting from a rare disease.
NORBS is a member of the European Organization for Rare Diseases - EURORDIS
An online regional conference on rare diseases was held yesterday and today. With this article, I wanted to contribute at least a little to a better understanding of this problem. Look up the NORBIS Facebook page, find out a little more about them, build awareness of the existence of these diseases, and of course help somehow if you can.
Nice and informative. Thanks for sharing this