According to the EU definition, diseases affecting up to five people per 10,000 people are considered rare. There are 5000-8000 rare diseases in Finland.
One of the causes of rare disease is genetic inheritance. In Finland, too, we have our own disease heritage. There are many rare diseases that are not hereditary. Only a few rare diseases occur relatively evenly around the world.
Rare patients can have many different symptoms and one person can have many different diseases. Person with a rare disease plays a key role, the more accurately they can describe the symptoms, the more likely it is that the cause of the symptoms can be determined. Often, only an accurate diagnosis and peer support will help to understand what symptoms are explained by a rare disease.
Due to the rarity of rare diseases and disabilities, diagnosis is often difficult to determine. Finding the right diagnosis can take up years or decades. A closer look at our genetic heritage would benefit rare patients and experts.
There is no genetic test for the diagnosis of all diseases. This requires doctors to have special expertise in diagnosis based on clinical research. Despite the lack of a genetic test, a rare patient is entitled to good care. If we get more detailed information about our genetic heritage, we will get the best possible path of treatment and the best possible physical, mental and social functioning. We could have a much more equal status and a more active role in society for the rare. However, genetic research must be ethical: closely monitored, resourced, organized, and regulated by law.
Thus, obtaining a diagnosis often brings relief and self-explanation to the symptoms experienced. It may be the case, for example, that a doctor may not even suspect a rare disease on the basis of symptoms in the initial stages, and common diseases must first be ruled out. In rare genetic diseases, often many genes can cause the same disease and the same gene can cause many diseases. Acquired rare diseases see a similar overlap between diseases.
Diagnosis is also not facilitated by the fact that even rare experts still do not have enough information about rare diseases. Smooth consultation between experts must also be facilitated. A definite diagnosis could be obtained more quickly without countless specialist visits.
A rare patient is often a challenging patient. The patient in particular is the best expert in their own disease or symptoms. An effective, safe, and reliable treatment relationship between the patient and the expert is a key success factor.
The Rare Diseases Program composed by the Ministry of Social Affairs and Health (STM) proposes a clear treatment pathway for rare diseases. A rare patient is usually a long time patient in primary or specialist care. The multifaceted symptoms make it difficult to find a diagnosis. In health centers or health center hospitals, a rare patient thus travels from one doctor to another at worst for years. Getting a referral even if you do not find answers to your patient’s symptoms, is challenging. Unfortunately, there is often no clear criterion for a physician to refer a multi-symptomatic patient along the treatment pathway.
Once a rare patient has been referred to a specialist unit, they may have to wait months to see a doctor. This is a difficult situation, for example, when you are suffering from chronic unexplained pain, there is no diagnosis, or your health is otherwise getting worse. Usually, at this stage, the rare patient feels guilty, feels mentally unbalanced, and has already been on long sick leave. The economic situation of a rare patient deteriorates and affects the daily life of a rare patient in all areas. Applying for social benefits has begun and the ability to function will deteriorate further when the endless cycle of form and scrap decisions does not seem to end. Exclusion from society is often a real threat in this situation, especially if the rare disease, with its symptoms or diagnoses, is stuck in the care path.