Difficult living with risk of Huntington’s

The situation of patients with Huntington’s disease is in many respects different from patients with other serious conditions.
“The condition affects the brain, the very foundation of who we are, and is caused by a diseased gene. If you have the gene, you will develop the disease sooner or later, regardless of how healthy a lifestyle you have”, says ethnologist Niclas Hagen

He is a member of Susanne Lundin’s research group (see related article), although he focuses on patients with Huntington’s disease rather than on stem cells. Huntington’s is a serious hereditary condition that affects movement, personality and cognition, and leads to premature death.

Niclas Hagen’s doctoral thesis was about how the disease is perceived by people with Huntington’s in their family. Several of his interviewees reported everyday incidents that had had a specific and frightening meaning for them. Dropping a glass or tripping over a step were not small mishaps, but instead had more serious implications: they could mean that they carried the fateful gene and that the disease was starting to make itself known.

Even those who had been tested for the disease continued to live in a no-man’s land between illness and health. Those who didn’t have the gene found it difficult to believe that they really were ‘in the clear’, while the others had difficulty accepting that they had a fatal disease when they felt in full health.

“This status in between health and illness could occur more widely in the future. When genetic diagnosis becomes more common, more and more healthy individuals will know that they bear the risk of a certain disease”, explains Niclas Hagen.

He is part of the Future Therapies research project, which is run by Susanne Lundin. The project also includes medical researchers Åsa Petersén and Deniz Kirik, who are investigating the possibility of curing Huntington’s disease with gene therapy. They want to use a harmless virus to insert new genetic material into the brain, which will replace that created by the diseased Huntington’s gene.

Niclas Hagen’s role in the project is to develop a new ‘informed consent’ form. All participants in research experiments have to sign such a form, as a guarantee that they know what they are getting into.

“These forms already exist for different types of study. However, we don’t think they cover the whole complex picture when it comes to brain research and patients with serious diseases”, he says.

Ingela Björck