RESUMEN
BACKGROUND: For young people in families with Huntington's disease (HD) the challenge of having an affected family member (AFM) compounds challenges related to being at risk of HD themselves. OBJECTIVE: This study aimed to quantitatively examine the experiences of young people in families with HD, adding to existing qualitative studies regarding teenagers and young adults in families with HD. METHODS: The experiences of young people with living in a family with HD were captured by an online anonymous questionnaire, available worldwide through the Huntington's Disease Youth Organization. The questionnaire contained mostly forced choice questions. RESULTS: Most participants (nâ=â84/101, 83.2%) provide assistance to an AFM and 46.4% (nâ=â39/84) wish they didn't have to look after their AFM. Many participants (nâ=â64/78, 82.1%) reported feeling anxious about being at risk; 64.9% (nâ=â50/77) agreed it is a barrier in their life. Over one third (nâ=â29/76, 38.2%) of participants disagreed that they have support in relation to being at risk, despite 85.5% (nâ=â65/76) agreeing it is important to have support and ongoing follow up. CONCLUSIONS: Young people in families with HD endure considerable emotional, social and practical burden secondary to having an AFM and being at risk themselves. Without increased support and services, the effects of being a young caregiver and living at risk are likely to have long term impacts on the well-being of these young people.
Asunto(s)
Ansiedad/psicología , Cuidadores/psicología , Depresión/psicología , Familia/psicología , Pruebas Genéticas , Enfermedad de Huntington/enfermería , Adolescente , Femenino , Accesibilidad a los Servicios de Salud , Humanos , Enfermedad de Huntington/genética , Masculino , Riesgo , Apoyo Social , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by variable age of onset, with no treatment proven to alter its natural history. Siblings of individuals with FRDA have a 25 % risk of developing the condition, raising issues around genetic testing of asymptomatic minors. There is a lack of professional consensus and limited empirical evidence to support provision or refusal of testing. This study aimed to ascertain the opinions of individuals with and parents of individuals with FRDA regarding pre-symptomatic testing of minors. A qualitative research approach using semi-structured interviews and thematic analysis was employed. Interviews with ten individuals with FRDA, and ten parents of individuals with FRDA were conducted, recorded, transcribed and analyzed. Four findings emerged. First, a number of arguments for and against testing minors were identified. Second, strong support existed from parents about the parental right to test their at-risk immature children, but individuals with FRDA were of mixed opinions. Third, participants felt it was not the clinician's role to make a final decision about whether testing occurs. Finally, a specific issue of concern regarding testing was what and when to tell at-risk children about the test result. The findings highlight a dilemma of how to manage the desires of some individuals and families affected by FRDA to access testing, when there is a lack of professional consensus due to differing opinions regarding autonomy, confidentiality and risk of harm. Research regarding the impact of testing and the views of at-risk individuals and clinicians is required so an appropriate framework for dealing with this contentious issue is developed.