On the occasion of the Day of Rare Diseases

February

28 is World Rare Disease Day. These are diseases that very few people suffer from. This movement has taken on a global scale and the goal of each member is the same, to inform the public and medical scientific circles in detail and contribute to the recognition, treatment and research of these conditions, as well as to improve the quality of life of patients and support their families. There are many associations, NGOs and counseling centers that bring together members, provide support and provide the necessary guidance. And we need to know about those who have any of these diseases, to be aware and if it is in our power to help in some way. Rare diseases affect 6-8% of the total population in Europe. There are about 450,000 people in Serbia who have been diagnosed with some of the rare diseases.This includes about 7,000 diagnoses from many areas of medicine: neurology, internal medicine, ophthalmology, dermatology and others. It is most common at birth and in childhood. The mechanisms of the disease are poorly understood, although in 80% of cases there is a genetic origin. Rare diseases are severe, chronic, and often degenerative. The quality of life is reduced by the lack of independence and this affects the whole family. It is difficult to find a suitable therapy, and if the drug is on sale, the price is very high. That is why such drugs are called “orphan drugs” and cannot be produced without the economic support of the pharmaceutical industry. Problems with diagnosis lead to high-risk delays or mistreatment due to misdiagnosis.

 

Rare diseases in ophthalmology: Central Serous Chorioretinopathy

Central serous chorioretinopathy is a disease that affects a very important center of vision at the fundus of the eye called the yellow spot. The disease occurs when a tangle of blood vessels normally located under the yellow spot releases fluid into the center and lifts it. Then there is a moderate decrease in visual acuity, on average about 50%, as well as the appearance of image distortion (metarmophopsia) or reduction of the image (micropsia), as well as impaired color and contrast differentiation. This disease usually affects middle-aged men, less often women, and is more common in people who are more prone to stress, who use corticosteroids, suffer from systemic lupus erythematosus or in pregnant women. It is diagnosed by a detailed examination: visual acuity, Amsler’s lattice, fundus of the eye, optical coherence tomography or fluorescein tomography scans. The disease is treated by instilling drops, giving tablets or giving injections to draw fluid from the yellow spot. 

 

Rare diseases in dermatology: Epidermolysis bullosa

Epidermolysis bullosa is a skin condition that occurs as a result of a gene mutation. Patients, primarily children, are deficient in a protein that plays the role of holding the epidermis and dermis together. This is the cause of skin vulnerability and the formation of painful blisters and wounds. So far, no cure has been discovered. Only topical formulas are available that promote the healing of existing injuries, but do not serve to eliminate the generic cause, nor to prevent the formation of a blister (bullae). Highly specialized institutes are working on research to correct an error in the gene responsible for the pathogenesis of epidermolysis bullosa. Standardization of gene therapy gives hope for treatment in the future.

 

Psychological aspects of rare diseases

Psychological aspects of rare diseases

 Patients with rare diseases and their family members face a number of difficulties arising from the rarity of their disease. Psychosocial consequences in patients are felt in all spheres of life: in growing up, socialization, schooling, choice of profession, emotional life or leisure. There are risks of stigmatisation, isolation, discrimination or reduced professional opportunities. People with rare diseases can live for many years in precarious circumstances, sometimes remaining excluded from the health care system, even after being diagnosed. The entire family of a person suffering from a rare disease, whether a child or an adult, is affected by a loved one’s illness and becomes psychologically, socially, culturally and economically vulnerable. Misunderstanding, depression, isolation and anxiety are unavoidable segments of the lives of patients and their family members. Every parent has great fears and hopes for their child, and when a diagnosis of a rare disease is made, these fears and hopes take on enormous proportions. The family becomes focused only on resolving the situation, more or less the sense of reality is lost, one almost lives in “one’s own world” – the world of struggle, search for information, providing money for treatment and existence, creating a surreal and potentially devastating situation. The fear of the unknown, of the final outcome, is everyday. A person’s perception of their quality of life will depend not only on the severity of their illness, but also on the quality of services provided, health care and the support network they receive.