Greece passed legislation on rare and complex diseases in December 2019 establishing 27 rare disease expertise centres at respective clinics at 8 hospitals. Twelve centres were established in Laiko Hospital, four in Aiginiteio Hospital, one in Attiko Hospital, six in Agia Sofia Children’s Hospital, one in Evaggelismos Hospital, one in the Air Force General Hospital, one in the Larisa University General Hospital and one in Patras University General Hospital (Neuromuscular diseases Unit).
Rare diseases are disorders that are life-threatening or cause chronic disability. They are characterized by their low prevalence and broad heterogeneity. The majority are genetic disorders, including congenital deformities, rare forms of child cancer and haematological, autoimmune, dermatological, endocrine, cardiac, respiratory, gastrointestinal, metabolic, neurological and neuromuscular, orthopaedic and ocular diseases. They require a holistic approach based on a combination of procedures to prevent increased morbidity and premature mortality and to improve the patient’s social and financial quality of life.
Improving the healthcare provided for rare diseases represents a huge challenge to public health, due to the lack of epidemiological data and data evaluating and assessing the effects of these diseases on the quality of life of patients and their families and current shortcomings in terms of diagnosis and treatment.
A rare disease is a disease that affects fewer than 5 persons in 10 000. While 5 in 10 000 may appear to be very few, it still adds up to approximately 246 000 people in the EU 27 for each disease.
According to current scientific knowledge, between 6 000 and 8 000 different rare diseases will affect up to 8% of the total population of the European Union (EU) at some point in their life. That means that approximately 30 million people in the EU 27 and approximately 1 million Greeks are or will be affected by a rare disease.
However, there are fewer than 100 rare diseases with a prevalence close to the limit of 5 persons in 10 000. They include sickle-cell anaemia, thalassaemia, haemophilia, cystic fibrosis, Fabry disease, Gaucher disease, CREST syndrome and neural tube defects. Most rare diseases, such as Ewing sarcoma, Duchenne muscular dystrophy or Von Hippel-Lindau syndrome, are very rare, affecting no more than 1 person in 100 000. Thousands of rare diseases only affect a few patients in Europe. Very rare diseases make patients and their families particularly isolated and vulnerable.
There is also great diversity in the age at which the first symptoms occur: half of all rare diseases (such as Prader-Willi syndrome and retinoblastoma) may appear at birth or in childhood. The remainder (such as Huntington disease or Creutzfeld-Jacob disease) may appear in adulthood.
Although most rare diseases have a genetic cause, they may be caused by environmental exposure during pregnancy or later in life, often in combination with a genetic predisposition.
Rare diseases also differ widely in terms of their severity. The life expectancy of rare disease patients is significantly reduced. Many of these diseases are complex and degenerative and cause chronic disability, whilst others are compatible with a normal life if diagnosed in time and properly managed and treated. They affect physical capability, mental ability, behaviour and sensorial capacity and cause disabilities.
Many disabilities often coexist, causing what is known as a polyhandicap. These disabilities exacerbate the sense of isolation and may lead to discrimination and reduced educational, professional and social opportunities.
Relatively common conditions can hide underlying rare diseases, e.g. epilepsy is often a symptom of tuberous sclerosis. Many conditions classified in the past as mental deficiency, cerebral palsy and autism are symptoms of rare diseases that have not yet been described. Many types of cancer, including cancers affecting children, and most congenital disorders are rare diseases.
It has to be noted that rare disease research has been instrumental in the identification of most of the human genes recognized to date and in the preparation of the innovative pharmaceutical products (orphan drugs) which now have a marketing authorization in the EU.
The main characteristics of rare diseases according to the European Organization for Rare Diseases are as follows:
- Rare diseases are severe to very severe, chronic, often degenerative and life-threatening.
- The onset of the disease occurs in childhood for 50% of rare diseases.
- Disabling: the quality of life of rare diseases patients is often compromised by the loss of autonomy.
- Highly painful in terms of psychosocial burden: the suffering caused by rare diseases is aggravated by despair, the lack of therapeutic hope, and the absence of practical support for everyday life.
- Incurable diseases, mostly without effective treatment. In some cases, symptoms can be treated to improve quality of life and life expectancy.
- Rare diseases are very difficult to manage: families encounter enormous difficulties in finding adequate treatment.
Directive 2011/24/ΕU on the application of patients’ rights in cross-border healthcare sets out rules in connection with rare and complex diseases, the most fundamental of which are the recognition of ORPHANET as the official database on rare diseases and the establishment of the European Reference Networks (ERNs) for rare diseases.
The European Commission has taken the lead in developing this unique model of ERNs, in collaboration with the Member States, the medical community and patient organizations: this is the first time that an official voluntary collaboration structure has been established in the healthcare sector between healthcare providers throughout the EU for the direct benefit of patients. The first 24 ERNs were launched in March 2017, involving 300 hospitals and 900 healthcare units in EU Member States.
Greece passed legislation on rare and complex diseases and, in December 2019, it established 27 rare disease expertise centres. Twelve centres were established in Laiko Hospital, four in Aiginiteio Hospital, one in Attiko Hospital and six in Agia Sofia Children’s Hospital, one in Evaggelismos Hospital, one in the Air Force General Hospital, one in the Larisa University General Hospital and one in Patras University General Hospital (Neuromuscular diseases Unit).
Depending on the hospital to which they are connected, these clinics work on auto-inflammatory and auto-immune diseases, connective tissue and musculoskeletal diseases, endocrine diseases, rare disorders of calcium and phosphorus metabolism, neuroendocrine tumours, rare epilepsy syndromes, neurological diseases, neuromuscular diseases, haematological diseases in children and adults, rare endocrine diseases in children, hereditary cancer syndromes, rare haematological diseases, rare forms of child cancer, rare renal diseases in adults and rare malignant haematological diseases in adults.