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A new Swedish qualitative study on the impact of familial ataxias on persons’ life (June 2017)

The article Cerebellar ataxia and intrathecal baclofen therapy: Focus on patients’ experiments, published in the online journal PLOS ONE, presents the results of a qualitative research on the impact of family ataxias on persons’ life.

“The aim of this study was to elucidate and better understand patients´ experiences of living with hereditary ataxia in general and to include their experiences of intrathecal baclofen (ITB)1 therapy more specifically. The qualitative design of the study with open-ended questions at first allows the patients to share their unique experiences each. In this context, we may extend our knowledge of how patients with the incurable hereditary ataxia managed to face the diagnosis, and to cope with the impact of the disease on the personal, social and family life, and finally to explore the significance of symptomatic ITB therapy in their daily lives.

In the present study, the participant’s experiences of living with ataxia emerged in one main theme, i.e. living in the present or taking one day at a time. Following categories were covered by the theme: 1) Uncertainty about the future as a consequence of living with a hereditary disease; the disease 2) Impact on life as a whole 3) Influence on personal life in terms of feeling forced to quit employment 4) Influence on daily activities, and 5) ITB therapy, advantages and disadvantages.

All the participants expressed a strong feeling of uncertainty about the future, confirming this important concept being recognized in a number of chronic illnesses. Being through a progressive decline of physical functioning they would not make plans for the future, but live for the moment. The process of achieving the diagnosis of ataxia was described as long as in three cases took many years to confirm. This is due to the slow and insidious onset of the disease, especially in the autosomal recessive mode of inheritance, whereas the autosomal dominant traits are often recognized early in the affected families. In terms of reactions to a diagnosis of chronic disease, the participants described depression and psychological distress. Despite the uncertainties about the treatment and prognosis, the genetic confirmation of the diagnosis of hereditary ataxia was important for our participants because of the legitimacy that the diagnosis brings on a patient’s symptoms, results in the access to therapy and supportive care and management. A Diagnosis creates both a framework for medical care by applying a label to the patient and a social order that provides status and permission to be ill. Once the uncertainty about the diagnosis was removed, the question of family planning and risk for transmission to future generation maintained the feeling of uncertainty about the future. Accordingly, our patients had not discussed genetic testing with their children.

The disease impact on life included several important domains of which slurred speech interfered directly with self-identity, relationships and social life. This experience supports the results of a qualitative study assessing the psychosocial impact of dysarthria following stroke where the participants expressed a feeling of stigmatization, social isolation, and changes in self-identity. To our knowledge this study is the first to describe the experiences of dysarthria in patients with ataxia and its impact on their life.

Giving up free time interests such as reading because of eye movement disturbances was another consequence of the disease. The comorbidity of ataxia and depression was recognized in all participants in this study. The chronic physical disease is often associated with episodes of major depression. However, despite the magnitude of the disabilities that our participants struggled with, they had accepted their own limitations and focused on what they did manage from day to day; As a result, they decided to live in the present instead of making plans for the future.

The participants experienced stigmatization in terms of lower society expectation after being diagnosed with the disease and wheelchair bound compared with the time before. Losing employment and not being offered other work possibilities, and facing a worsened economic situation at the same time or close to the confirmation of the disease by genetic testing was a common complaint from the participants in this study. This is another important aspect of life placed in the category of the stigmatization of people with chronic disease. The patients’ experiences and the economic burden of the disease are in agreement with studies of other chronic conditions where long sickness leave episodes and early retirement were common findings.

The positive effects of the ITB therapy was expressed in terms of improved body position in the lack of involuntary leg movements, better sleep, reduced spasticity, and pain relief. Weight gain, and the pump located in the abdomen brought a feeling of discomfort, but nonetheless, most of the patients were agreed in recommending the ITB therapy to others with hereditary ataxia. “

To read the complete study, click here!

  1. Baclofen intrathecal is given as an injection (needle) into the spinal fluid around your child’s spinal cord by a nurse or a doctor. (Source :



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