Blog

Rare Disease Day aims to raise public awareness of rare diseases and is an opportunity to support patients with rare diseases, as a priority of the human right for an inclusive society.

The theme of this year’s Rare Disease Day is “more than you can imagine” and is a message that because rare diseases as a whole affect the lives of not only patients but also their families and caregivers, they constitute a significant problem for society as a whole to an extent that is not easy to record.

Rare Disease Day began in 2008 in just 18 countries, reaching more than 100 countries participating with various events in 2024.

A disease is rare when it affects fewer than 1 in 2000 people. More than 6,000 rare diseases have been identified, which are characterized by a great diversity of manifestations and concern approximately 300,000,000 patients, that is, 1 in 17 people.

Although each disease separately is rare, together they affect a large part of the population, larger than their name suggests. Symptoms differ not only from disease to disease, but also from patient to patient, suffering from the same disease.

The challenges faced worldwide by people living with a rare disease are:

• Limited scientific knowledge and reliable information about the disease significantly delay the correct diagnosis by an average of 4-5 years and therefore the appropriate treatment
• The diversity of disorders and the similarity of the symptoms of the underlying rare disease with common diseases result in initial misdiagnosis
• Inequality and difficulty in accessing appropriate healthcare entail a great social and economic burden for patients and their families
• The need to interconnect all involved scientific bodies (clinical doctors of many specialties, researchers) as well as logistical infrastructures (laboratories, nursing units, pharmaceutical companies) at an international level causes significant difficulties

Rare diseases significantly affect the quality of life of patients, as they are associated with chronic, progressive, degenerative and often life-threatening conditions, often causing loss of autonomy. For most of them there is no treatment that leads to a complete cure and they are treated only with measures to relieve symptoms or more generally with interventions aimed at improving the quality of life of patients. Research is being carried out but progress is generally slow.

Because the number of patients with each of these diseases is particularly small, access to treatment often depends on the place of residence, the available health services and the importance attributed to the specific condition.

Rare diseases significantly affect childhood, with statistics highlighting the seriousness of the issue:

• Percentage of children affected: Approximately 70% of rare diseases begin in childhood
• All forms of childhood cancer are rare diseases
• Genetic nature: 72% of rare diseases are genetic in nature

Early diagnosis of a rare disease can make a big difference in the course of treatment and in improving the child’s quality of life. Although rare diseases are many and varied, there are some non-specific manifestations that may raise suspicion of a rare condition and require further investigation, such as:

– Delay in psychomotor development (delay in speech, walking or motor skills)

– Recurrent or particularly severe infections

– Difficulty in feeding (food intolerance, difficulty swallowing or frequent regurgitation)

– Unexplained weight loss or inability to gain weight

– Muscle weakness or hypotonia

– Seizures or seizures

– Dysmorphic features (e.g. unusual facial features, abnormal skull shape or size or abnormalities in extremities)
– Skin manifestations (spots, rashes, changes in skin color)
– Vision or hearing problems that have not been detected earlier
– Laboratory findings indicating metabolic disorders

It is important to emphasize the need for early diagnosis, appropriate treatment and support for children suffering from rare diseases, as well as their families.