The purposes of this study are to learn about significant life changes for people with
Friedreich's ataxia and about patients' experiences with health care providers.
Friedreich's ataxia is a rare genetic disorder in which patients experience progressive
muscle weakness and loss of coordination in the arms and legs. They may have other
complications, such as vision and hearing impairment, dysarthria, scoliosis, diabetes, and
heart disease. The study will explore the impact of this chronic progressive illness on
transitional life events, such as career choice and marriage, and the role of family members
and health care providers-particularly genetic counselors-in helping patients progress
through these events.
Patients with Friedreich's ataxia who are 18 years of age or older may be eligible for this
study. Those enrolled will participate in a 45- to 60-minute interview by phone or in
person, in which they will be asked questions about important changes in their lives and
their past experiences with health care providers. The interview will be audiotaped.
Human development across the lifespan is a process of continual change, adaptation and
growth. Throughout this process, key transitional events, such as career choice and
marriage, mark important points in time when an individual's life course is significantly
altered. These transitional events may be instigated by age, historical or idiosyncratic
factors. Of particular interest in the present study are patients' perceptions of
transitional events brought about or altered by chronic illness and disability.
Additionally, factors (i.e. social support, communication, family) that help facilitate
progression through these events will be investigated. The actual or potential role of
health care providers during transitional events will also be explored with a specific
emphasis on genetic counseling. These themes will be examined through the administration of
a one-time, semi-structured, in-person or telephone interview of patients with Friedreich's
ataxia: a progressive, debilitating, neurodegenerative condition. The interviews will be
approximately 45-60 minutes in length and will include open-ended questions to elicit
qualitative data. Approximately 40 subjects will be recruited from Friedreich's ataxia
support groups, a research organization and a clinical setting.
It is anticipated that data elicited from the study will lead to recommendations regarding
the process and content of genetic counseling for individuals with Friedreich's ataxia.
These considerations, coupled with qualitative data obtained from participants, may also
have implications for the evolving role of the genetic counselor. Specifically,
consideration of developmental counseling approaches, which emphasize key transitional
events, may be particularly useful as genetic counselors become increasingly involved in
subspecialties (i.e. cardiology, pediatrics, neurology) that provide continuing follow-up
care to patients.
Any individual diagnosed with Friedreich's ataxia, 18 years of age or older, who speaks
English and is either in attendance at the NAF conference, or who has access to a
Adolescents and children under the age of 18. Children and adolescents will be excluded
due to the potiential for increased psychological and/or emotional.