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Behind every rare disease there is a unique story – often full of waiting, searching, uncertainty and struggle. Although they are called “rare”, these diseases are not as rare as we think: collectively they affect more than 300 million people worldwide. 

In Greece, it is estimated that at least 600,000 people suffer from a rare disease, many of which have not yet been diagnosed. 

More than 8,000 rare diseases

Today, more than 8,000 rare diseases have been recorded diseases, with new ones being added every year, as the scientific community discovers new genetic mutations and mechanisms. 

Rare diseases are mostly of genetic origin, often appear in infancy and childhood, and are characterized by multi-organ involvement, complex symptoms, and progressive deterioration. 

Examples include:

• Neonatal and pediatric diseases

• Neurodegenerative diseases (e.g.Fabry,Huntington disease,Friedreich disease, SMA

• Metabolic syndromes

• Autoinflammatory and autoimmune diseases

• Myopathies and neuromuscular syndromes

• Primary immunodeficiencies

• Rare forms of cancer

• Rare blood disorders

• Cardiac diseases

• Hepatological diseases (diseaseGausher,Wilson)

• Nephrology

• Pulmonary diseases

• Other rare diseases 

Why is diagnosis delayed so much?

Delayed diagnosis is one of the most important problems faced by patients. In many cases, it takes 5 to 10 years to confirm the correct diagnosis. Why?

• Non-specific and vague symptoms, resembling other common conditions.

• Lack of specialized and informed doctors in rare diseases.

• Lack of rare disease reference centers throughout Greece

• Restricted access to genetic testing.

• Insufficient information in the wider medical world about rare diseases. 

During this period, the patient often wanders from specialist to specialist, experiencing not only physical symptoms, but also psychological exhaustion. Recently, centers of expertise for Rare Diseases are being organized in Public and University Hospitals. 

How involved are Neurologists? 

The specialty of Neurology is at the heart of the diagnosis and monitoring of many rare diseases. It is estimated that approximately 80% of rare diseases have a neurological expression, either primary or secondary.

The Neurologists:

• They treat rare neurodegenerative and neuromuscular syndromes 

• Recognize ‘unusual’ neurological patterns

• Direct the patient to genetic or metabolic testing

• Participate in the interdisciplinary patient management team 

In modern medical centers, the collaboration of Neurologists, Geneticists, Pediatricians, Endocrinologists, Immunologists and other specialties is fundamental.True close cooperation between all specialties related to rare diseases is required with the common goal of treating the 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 deeply touch the entire family, who often become caregivers with 24-hour responsibility, face financial burdens for tests, medications and treatments, live in uncertainty and despair, with information that is most often incorrect and unknown, while correct and truthful information about the disease is necessary from the beginning, as well as psychological and social support. 

Parents of children with rare diseases are often themselves researchers, supporters, translators of scientific articles, but also the main beacons of support for their child. They have also founded the Rare Diseases Association of Greece, which is a member of the European and World Rare Diseases Association. 

Newer developments in the treatment of rare diseases

The medical community has been making impressive strides in understanding and treating rare diseases in recent years.

• Discovery of new genes and molecular mechanisms

• Gene and cell therapies (e.g. for SMA, certain forms of blindness, Leber disease or immunodeficiencies)

• Personalized medicines and treatments

• Personalized Medicine, which adapts the treatment to the genetic profile of each patient.

• International Disease Registries, Clinical Trials and Groups Support, which bring hope and new perspectives. 

Progress in early diagnosis through prenatal and neonatal screening, the wider availability of personalized genetic testing and the activation of patient associations are gradually changing the landscape.

In these latest developments in the treatment of rare diseases, the Athens Medical Center is also participating from the private sector. data-contrast=”auto”> with the creation of a special rare diseases clinic with a team of doctors (Neurologist, Cardiologist, Hematologist, Pulmonologist, Nephrologist). 

Rare diseases are no longer “orphans”. Although each one is unique, all patients have the common right to early diagnosis, proper care and a dignified life. With the collaboration of doctors, researchers, families and the State, we can transform “rare” into known and treatable disease. 

If you suspect that you or a member of your family may be suffering from a rare disease, seek medical guidance from a specialized neurologist or referral center.  

Early recognition is the first step towards hope!