Introduction

In this publication, we want to emphasise possibilities and show how persons with CHARGE syndrome can lead good lives with proper support.

Living with CHARGE syndrome can entail different aspects and challenges. Often, the focus revolves around the medical aspects, and less on how individuals can function in their day-to-day lives. Persons with this syndrome represent a small group which means that when professionals encounter someone from this population they may have limited knowledge about the syndrome. And even though there is lots of knowledge regarding the medical aspects of CHARGE syndrome, there is a lack of case descriptions and interviews, telling the story from the perspective of the persons living with the syndrome themselves.

We hope that this publication can show the diversity and give a voice to a group that seldom is heard. Hopefully, parents, legal guardians, and relatives can get a more positive picture of what life with CHARGE syndrome might look like.

We have spent the last few years collecting case studies from everyday practice and interviewing people with CHARGE syndrome and their families. We want to share the experiences of the participants in this publication.

Due to the small population of people with CHARGE syndrome in the Nordic region, we have anonymised the texts and chosen fictious names.

Meet Thomas’s mother who gives a very personal account of how it was to learn that her newborn baby had CHARGE syndrome. Read about Dominic who is in primary school, knows three languages but also struggles with balance and sight, which makes him exhausted at the end of the day. Karl recently got his drivers’ license and wants to move to the capital to get to know more people who knows sign language. Together with Charlie, Anna, Inga, and Linda they have all let us into their lives, displaying challenges, personal growth, and development.

We hope that you, as the reader, can relate and find similarities with your own life.

/The Nordic network on CHARGE syndrome

About the Nordic CHARGE Network

Established in 2002, The Nordic Network on CHARGE syndrome has more than 20 years of experience in networking across the Nordic region.

Limited knowledge about CHARGE syndrome in various professional environments and among parents affects individuals living with the syndrome. By focusing on educational, and behavioural aspects, as well as the psychological consequences of CHARGE syndrome, the participants in the network strive to increase knowledge and understanding. 

The opportunity to meet professionals from other Nordic countries has made a significant difference so far. The network has shared experiences, supported each other in forming national networks and projects, and found ways to apply the knowledge in the daily practices.

The network produces information and spreads knowledge about CHARGE syndrome to families and professionals in the Nordic countries. We also collaborate with European networks, Deafblind International (DbI), and other international networks when relevant.