A rare diagnosis is defined when the affected population is less than 1 in 2.000 persons, while an ultra-rare diagnosis is defined when fewer than 1 in 50.000 persons are affected. The prevalence of persons born with CHARGE syndrome in the Nordic region is approximately 1 of 10.000 born each year, making the population very small in each country. In some regions there might be only one person with the syndrome. This means that the support system around the individual has no prior knowledge of the syndrome.
For this reason, there are great benefits in the Nordic region from sharing knowledge and examples of best practice.
The purpose of this publication is to raise awareness about the diversity and complexity of living with CHARGE syndrome. The publication is aimed at both professionals who might meet persons with CHARGE syndrome in their work, and relatives and the close network who want to know more to be able to give support.
Medical facts often highlight the negative aspects of the syndrome, and there is a lack of literature on what living with CHARGE syndrome may entail. This is why we have gathered voices of persons with CHARGE syndrome and relatives and professionals from the Nordic region. The focus is on functionality rather than medical descriptions. We want to give these persons a voice and fill a gap when it comes to describing all the things that may work, given the right support.
The Nordic Council of Ministers have a vision of a socially sustainable Nordic region – for all. In this publication, we focus on creating the conditions for achieving these goals for persons with CHARGE syndrome through increased knowledge.
This publication has been produced by members of one of the Nordic Welfare Centre’s networks, the Nordic Network on CHARGE syndrome.
The Nordic Welfare Centre would like to thank all the authors and the editorial team of the Nordic CHARGE network who have met and built trust with the participants in the book, often more than once.