New publication about living with CHARGE syndrome

The Nordic network on CHARGE syndrome has spent the last few years collecting case studies from everyday practice and interviewing people with CHARGE syndrome and their families. Now the stories are gathered in our new publication Re-CHARGE – Voices about living with CHARGE syndrome. This publication aims to provide a comprehensive overview of the daily experiences, challenges, and achievements of persons living with CHARGE syndrome. 

CHARGE is a rare syndrome that can be caused by a congenital genetic mutation. The symptoms affect several of the body’s organs and often involve hearing loss, visual impairment, and balance difficulties, and require a great need for medical treatment and special educational efforts. We still have little knowledge about the syndrome, which was first identified in 1981. 

The publication will be launched on 10 April in a webinar where the authors in the network will present their new publication and talk about why they wanted to let the voices from the CHARGE community be heard. 

Karl’s journey 

Karl’s journey with CHARGE syndrome has been complex, involving significant medical and educational challenges from birth. 

– I am generally a calm person but can get a little bit stressed when I am driving a car, Karl shares, reflecting on his recent achievement of obtaining a driver’s licence. 

This milestone is part of his broader goal for a more autonomous life. His early life was marked by immediate health challenges. 

– Due to breathing problems, Karl was rushed to intensive care right after birth, his mother recalls. 

It was nearly three weeks before a doctor familiar with CHARGE syndrome diagnosed him, initiating a long journey of medical and developmental support. 

Aiming for independence 

Despite these challenges, Karl has developed a range of interests and skills, including proficiency in sign language. He now aims to move to the capital to get to know a larger deaf community. 

– He would like to get a flat on his own and be independent, his mother states, highlighting his aspirations towards self-reliance and community engagement. 

Beyond medical aspects  

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. CHARGE syndrome is rare, and professionals may have limited knowledge about it.  And even though there is a lot to read about 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. 

That is why Karl, and his family are sharing their experiences, with the aim of shedding light on CHARGE syndrome from the perspective of those who live with it daily.  

Give this group a voice 

The Nordic network on CHARGE syndrome emphasizes the importance of understanding and support from the community surrounding the person living with CHARGE syndrome.  

– 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 positive picture of what life with CHARGE syndrome might look like, says Ulrica Ravinale, adviser at The National Agency for Special Needs Education and Schools in Sweden, and a member of the Nordic network on CHARGE syndrome. 

Stories of personal growth 

In the publication you will also 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.  

Together with Charlie, Anna, Inga, and Linda they have all let us into their lives, displaying challenges, personal growth, and development. 

Due to the small population of people with CHARGE syndrome in the Nordic region, the persons have been anonymised and given fictitious names.