Behind every rare disease there is a unique story – often full of waiting, searching, uncertainty and struggle. Although they are called “rarely”, these diseases are not as rare as we think: cumulatively concern more than 300 million people worldwide.
In Greece, it is estimated that at least 600,000 people suffer from a rare condition, many of which have not yet been diagnosed.
Over 8,000 rare diseases
Today more than 8,000 rare diseases have been recorded, with young people added each year, as the scientific community discovers new genetic mutations and mechanisms.
Rare diseases are mostly of genetic origin, often occur in neonatal and childhood, and are characterized by polyorganic attack, complex symptoms and progressive deterioration.
Examples include:
- Neonatal and pediatric diseases
- Neurodegenerative diseases (eg Fabry disease, Huntington disease, Friedreich disease, SMA)
- Metabolic syndromes
- Self -inflammatory and autoimmune diseases
- Myopathies and neuromuscular syndromes
- Primary immunoeds
- Rare forms of cancers
- Rarely bloodthirsty diseases
- Cardiological diseases
- Hepatological Diseases (Gausher Disease, Wilson Disease)
- Nephrologically
- Pulmonary diseases
- Other rare diseases
Why is the diagnosis delayed so much?
Delaying the diagnosis is one of the most important problems that patients face. In many cases, it takes 5 to 10 years to confirm the correct diagnosis. Why?
- Non -specific and vague symptoms, resembling other common diseases.
- Lack of specialized and up -to -date doctors in rare diseases.
- Lack of Rare Report Centers throughout Greece
- Limited access to genetic control.
- Insufficient information in the wider medical world about rare diseases.
During this time, the patient is often wandering from a specialist to a specialist, experiencing not only physical symptoms but also psychological exhaustion. Recently organized centers of rare diseases in public and university hospitals.
How much are neurologists involved?
Its specialty Neurology It is at the heart of the diagnosis and monitoring of many rare diseases. It is estimated that about 80% of rare diseases have neurological expression, either primary or secondary.
The neurologists:
- They are rarely facing neurodegenerative and neuromuscular syndromes
- Recognize ‘unusual’ neurological patterns
- Direct the patient to genetic or metabolic control
- Participate in the patient’s interdisciplinary team
In modern medical centers, cooperation Neurologists, geneticists, pediatricians, endocrinologists, immunologists and other specialties are fundamental. It requires true close cooperation of all specialties related to rare diseases with the common aim of tackling rare disease and improving the daily life of the patient and the caregiver.
The impact on the family
Rare diseases do not only concern the patient. They are deeply touched by the whole family, who often becomes a 24 -hour caregiver, faces a financial burden on exams, medicines and treatments, living in uncertainty and despair, with information most often wrong and unknown, and is also necessary at the same time.
Parents of children with rare diseases are often the same researchers, supporters, translators of scientific articles, as well as basic lighthouses for their child. They have also established the Union of Rare Diseases of Greece, which is a member of the European and World Union of Rare Diseases.
Newer developments in dealing with rare diseases
In recent years, the medical community has made impressive steps in understanding and dealing with rare diseases.
- Discovery of new genes and molecular mechanisms
- Gene and cell therapies (eg for SMA, certain forms
- Personalized medicines and treatments
- Personalized medicine, which adapts treatment to each patient’s genetic profile.
- International Disease Record Register, Clinical Studies and Support Groups, which bring hope and new prospects.
Progress in premature diagnosis through prenatal and neonatal control, the broader availability of personalized genetic control and the activation of patients’ associations are gradually changing the landscape.
In these newest developments in the treatment of rare diseases, the private sector also participates in the private sector. Athens Medical Center by creating a special medical clinic with a group of doctors (neurologist, cardiologist, hematologist, pulmonologist, nephrologist).
Rare diseases are no longer “orphaned”. Although each is unique, all patients have the common right to early diagnosis, proper care and decent life. With the cooperation of doctors, researchers, families and the state, we can turn the “rare” into a well -known and manageable disease.
If you suspect that you or a member of your family may suffer from rare disease, seek medical guidance by a specialized neurologist or reference center.
Timely recognition is the first step towards hope!
Written by Dr. Clementine E. KarageorgiouNeurologist, psychiatrist, director Neurological, Athens Medical Center
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