A disease is considered rare when it affects no more than 5 in 10,000 people.
Rare diseases concern 6%-8% of the population in the European Union, and it is estimated that around 60,000 citizens in Cyprus suffer from some rare condition. 70% of rare diseases have a genetic origin, and there is no treatment for 95% of these diseases.
“In total, we are not few. On the contrary. However, in each of the 6,000 – 8,000 rare diseases identified so far, there is a very small number of patients. Like me. I suffer from an ‘orphan disease,’ so called because of its rarity.” On World Rare Disease Day, Christiana Vasileiou tells Phileleftheros, describing her life and the lives of more than 60,000 people in Cyprus, inviting us “to remember the period of lockdown” during the pandemic:
“I want you all to identify with the period of lockdown, the quarantine due to coronavirus. We were all seized by dozens of fears. We were all confined to our homes because we were forced to do so. We had constant checks on the hours we could go out, which areas we could move in, and who and how many people we could be with. We were afraid of the severity of COVID-19. We wondered if we would survive if we fell ill. We feared the possibility of death. We didn’t know if there was appropriate treatment, we didn’t know what would happen next. A constant fear for the future and insecurity. In our panic, we all started running to vaccination centres without much information. We reminisced and recognised the value of freedom, the simple everyday things, the value of family, hugs, socialising. With the lockdown, we were all psychologically vulnerable. Exactly that. A patient with a rare disease identifies absolutely in all areas and parameters as a person during the period of lockdown, with the difference that they live with a permanent threat. What the global population experienced for a few months, a patient with a rare and chronic disease lives throughout their life. Their life is like an endless quarantine.”
“When we talk about rare diseases, we often talk about chronic, severe, and multi-organ diseases that concern all medical specialities. Many of them have ‘invisible peculiarities.’ Often patients receive comments like ‘But you don’t look sick.’ Such an attitude is completely invalid because the degenerations in internal organs, and the dysfunction in the biochemistry of the body are not visible to the naked eye. Rare diseases are serious, have a progressive and degenerative course, and if not diagnosed promptly and if patients do not receive proper management, they may subsequently face permanent disabilities of various forms and levels.”
Therefore, a patient has to deal with many “losses.”
“First comes the loss of organic functions resulting in prolonged fatigue, exhaustion, insomnia, brain fog, memory loss, vision and hearing loss, walking, balance, breathing difficulties which lead to intense anxiety and irritation and an overexertion to manage daily goals. According to the Centers for Disease Control and Prevention, one-fourth of people living with chronic diseases report significant limitations in their daily activities, although in most cases, the symptoms are not visible. Fatigue is a common symptom of chronic disease. In other words, it’s about a forced limitation, and they often need rest, which means patients are forced to cancel social events at the last minute. This doesn’t mean they are lazy or trying to avoid activities. From there, comes the loss of identity, and low self-esteem. The degradation of organic functions, changes in appearance, exhaustion, and frequent pain bring with them feelings of shame, dependency, and humiliation. No one wants to be dependent on anyone.” When a person experiences all this, they inevitably show “continuous mood swings from despair to anger, to jealousy, or even to apathy.”
Inevitably, says Christiana, “rare diseases are treated with rare or ‘orphan’ drugs as they are called. Some are in experimental stages, and patients are in constant anxiety and a continuous wait for the laboratory tests they undergo very frequently. They feel fear for the progression of the disease and the possible consequences. Some medical conditions and treatments, especially of the nervous system, cause loss in cognitive functions, such as memory problems, concentration, etc. They can affect the quality of communication and speech or result in constant misunderstandings about what the person said and remembers.”
At the same time, “the loss of the normal functioning of the body’s defence forces many chronic and ‘rare’ patients to avoid being near sick people. Even a mild cold in a healthy person can develop into a dangerous infection in someone with a chronic disease.”
“No pity is needed, recognition and correct policies are needed.”
“The participation of the approximately 60,000 rare disease patients in Cyprus in society and the labour market without discrimination is the demand of all of us living with some rare disease. No pity is needed, recognition and correct policies are needed. To give us space and opportunity to participate and to leave our own ‘rare imprint’ in this society. Unfortunately, there is no legislative framework for part-time employment or working from home, practices that, based on data from other European countries, have greatly empowered people with chronic diseases because these individuals continue to participate, to be useful, to have a motive for life. Since there is no legislation, patients are forced to stay home on prolonged sick leave. People who cannot work due to chronic illness are not on ‘vacation.’ They struggle daily to perform simple tasks, like getting out of bed, dressing, cooking. All of us ‘rare patients’ as well as all chronic patients ask for the obvious: Stronger and timely intervention, upgrading to modern needs in managing such cases, the creation of rare disease centres, staffed with interdisciplinary teams with monitoring protocols, coordination, proper multi-thematic organization. The challenge is also psychological support, fair social integration, vocational rehabilitation, equal management, frequent diagnostic tests. Financial support and not just a symbolic allowance would also go a long way.”
