Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington’s disease gene expansion carriers
Pearl J C van Lonkhuizen, Anne-Wil Heemskerk, Leanne Slutter, Erik van Duijn, Susanne T de Bot, Niels H Chavannes, Eline Meijer, on behalf of the HEALTHE-RND consortium · 2024
Read Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington’s disease gene expansion carriers by Pearl J C van Lonkhuizen, Anne-Wil Heemskerk, Leanne Slutter, Erik van Duijn, Susanne T de Bot, Niels H Chavannes, Eline Meijer, on behalf of the HEALTHE-RND consortium (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11605912.txt.
Description
Huntington's disease has no cure, so quality of life matters enormously. Yet Pearl van Lonkhuizen and co-authors note that carriers of the gene expansion are rarely asked what quality of life means to them. They interviewed six people who carry the gene but have no symptoms yet, and six with manifest disease, in the Netherlands. Then they analysed how each group defines a good life.
Those without symptoms spoke of a meaningful life regardless of the disease, shadowed by worry about what is coming. Those with symptoms spoke of coming to terms with the illness and of perspectives shifted by it. One theme spans both: a shift of focus from ideality to reality. The authors urge care teams to treat each carrier's own definition as the guide, and to build beliefs about future adaptability before symptoms force the shift.
Catalog record
| CREATOR | Pearl J C van Lonkhuizen, Anne-Wil Heemskerk, Leanne Slutter, Erik van Duijn, Susanne T de Bot, Niels H Chavannes, Eline Meijer, on behalf of the HEALTHE-RND consortium |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 66 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |