04.04.2016

Rare Diseases Day on 29th Jan

It is estimated that about six per cent of Finns have a rare disease. Approximately 8,000 rare diseases are known in Finland and more are found every day.

It is understandable that mastering the entire spectrum of diseases is difficult, which is why we need coordinated actions to direct these patients to the right unit. The record number of participants at a healthcare event discussing rare diseases on 29 January tells about the widening interest, a step in the right direction.

New progress in screening and genetic and genomic diagnostics pave the way for better recognition of diseases. As these become better and less expensive, they will be available for use for more healthcare units and therefore more individuals can be examined for rare diseases. In this manner, it is easier to reach the right diagnosis and receive treatment. Progress has already been visible, and the screening of rare diseases for new-born babies has been introduced in several hospitals. New-born screening will, however, only solve part of the cases. Rare diseases exist in all age groups, and these patients should be found and directed to experts capable of recognising these diseases in time.

Ville Perälä, Medaffcon Oy

Text: Ville Perälä

One of the changes brought forward by the national programme on rare diseases conducted by the Ministry of Social Affairs and Health is the establishment of centres for rare diseases. In Finland, it has been decided to establish these knowledge centres alongside all university hospitals, and operation has been launched in all units or responsible persons have been appointed in the beginning of 2016. The aim of the centres is, among other issues, to create therapy area -specific knowledge networks. The current challenge is not only the lack of experience but information exchange inside healthcare. The situation is far from optimal, if a patient is transferred between units and treatment centres, but data is not.

Actions that have changed the treatment path enable more diagnoses of rare diseases with patients. Introduction of orphan drugs has simultaneously accelerated, but healthcare resources are still limited. One of the large problems in the future will be how to change healthcare structures so that people receive treatment equally around the country. Nobody can solve this challenge alone, but it requires willingness to change both from healthcare and from everyone working with this issue.

 

Ville Perälä
Scientific Project Manager
ville.perala@medaffcon.fi
+358 40 774 2955