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Ultra-rare and rare diseases

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Ultra-rare and rare diseases

PantherMedia

Writing a prescription

Contrary to appearances, rare diseases are not as rare as the name suggests. Considering individual disease entities, it may be that a few people worldwide suffer from a particular disease. However, when considering the total number of patients suffering from what are considered to be ultra-rare diseases, the number can be as high as 6 % of the population.

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Rare and ultra-rare diseases are referred to in the literature as rare diseases. Depending on the latitude, the definition of an ESD varies slightly - in the USA, ESDs are recognised as disease entities that affect fewer than 200 000 people; in Europe, the definition states that an ESD affects fewer than 1 in 2 000 people. It is estimated that up to 8% of the world's population suffers from rare and ultra rare diseases. According to the Polish Ministry of Health, up to 3 million people in Poland suffer from such diseases.

Why are ultra-rare diseases so unusual?

Their "unusualness" lies primarily in their rarity. For this reason, it is extremely difficult not only to diagnose the disease accurately, but also to start treating it. Caring for someone with an ultra-rare disease is a challenge for both the family and the doctors who care for the patient. Patients require specialised medical care involving the collaboration of the best doctors from different disciplines, but also the provision of specialised care in tailored treatment centres. Patients need not only a comprehensive diagnosis, but often appropriate rehabilitation to enable them to function. In recent literature, 2 new terms have emerged - Bois dentelle and SWAN. The first refers to people with specific ultra-rare diseases, of which there are several or a dozen in the world. The second name, SWAN (Syndrome Withouth A Name), refers to patients suffering from such rare conditions that they have not yet been named. In many cases, these are patients who are the only ones in the world to suffer from a particular disease entity.

Can ultra-rare diseases be cured?

Treating disease entities that are often unknown or have only occurred in one or two people in the world is extremely difficult. Cooperation between the patient and family, doctors and researchers who are trying to develop new drugs and life-enhancing therapies, is therefore extremely important. Pharmaceutical companies also take an interest in patients with ultra-rare diseases, often offering medicinal products to support the patients' lives. These medicinal products, known in the literature as Orphan drugs, are not available commercially, in every pharmacy. The cost of manufacturing them often exceeds millions of dollars, which is why the prices of the medicinal therapies offered are so high.

Diagnostics

Correct diagnosis is a milestone in the implementation of treatment. Unfortunately, in the case of many diseases, they are discovered ... accidentally - they can often produce symptoms overnight. Many diseases are discovered during routine examinations or when a child develops non-specific symptoms. Because access to modern diagnostic methods is difficult, it takes a long time to properly guide the patient, so that the implementation of treatment is delayed.

What determines the emergence of a rare and ultra rare disease

Rare and ultra-rare diseases are mainly caused by genetic mutations. Mutations can occur spontaneously or be induced by the action of a mutagenic agent - chemicals, ionising radiation, etc. Mutations cause changes in genes or chromosomes, resulting, for example, in the production of abnormal proteins that are needed for the construction of tissues, organs or for the body to function properly. Not all rare and ultra-rare diseases have a genetic basis. Many diseases are caused by very rare infections, autoimmune problems or a very rare cancer. To date, scientists and doctors have not been able to say with certainty what causes rare and ultra-rare diseases. Finding a more specific cause would certainly aid both diagnosis and treatment. Ultra-rare diseases are conditions that are considered to be extremely serious and often progress rapidly and chronically. Many of them manifest themselves immediately after birth, but there are some disease entities that are known to produce their first symptoms later, such as neurofibromatosis or Rett syndrome. Some disease entities, classified as rare and ultra-rare diseases, do not become apparent until adulthood - Huntington's disease, Charcot-Marie-Tooth disease and others.

Orphan-drugs, Rare diseases, Rare-diseases, Ultra-rare diseases

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Examples of disease entities

The list of disease entities that comprise rare and ultra-rare diseases is long. Depending on the classification into genetic, autoimmune, immunological or oncological diseases, we can distinguish thousands of disease entities that are considered rare diseases. These include diseases such as Aarskog syndrome, Joubert syndrome, intestinal fermentation syndrome, idiopathic pulmonary arterial hypertension and Pompe disease. The long list also includes disease entities that are more recognisable to the public, such as DiGeorge syndrome, Fabry disease, phenylketonuria or congenital bone fragility.

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Where to find help

If your child or loved ones have experienced sudden, worrying symptoms - don't delay, contact your doctor. If someone close to you suffers from a rare or ultra rare disease, you can get support from non-profit organisations that help with access to treatment, diagnosis. Orphanet is a pan-European project that is signed by the European Commission. The Orphanet portal provides a range of information that can be useful for both patients and their families.