Sarcoglycanopathies diagnosed in an adult reference neuromuscular disease unit of the central region of Portugal [O impacto do gene - Como vivenciam os portadores assintomáticos da paramiloidose a notícia do resultado do teste genético]

• Type: Article in International Scientific Journal
• Date: 2015

Authors

Matos, C (Author) Other; IP Carvalho (Author) FMUP

Journal

Title: Sinapse

Vol. 15

Pages: 5-12

ISSN: 1645-281X

Publisher: Sociedade Portuguesa de Neurologia

Indexing

Scopus - 1 Citation

Other information

Authenticus ID: P-00G-B54

Abstract (EN): Introduction: Familial Amyloid Polyneuropathy (FAP) is an inherited neurological disease of dominant autosomal transmission and late-in-life manifestation for which there is still no cure. It is manifested by important motor, sensory and autonomic dysfunction. Although the symptoms of this disease can lead to the suspicion that a person carries the disease, there are carriers of amyloidosis mutation who undergo the genetic screening test despite being asymptomatic. Goals: The aim of this study is to explore how these asymptomatic individuals experience the news that they are FAP mutation carriers, specifically their reasons for doing the pre-symptomatic genetic testing, their thoughts and feelings when they receive the positive test results and the impact of being asymptomatic carriers of this disease in their lives. Methodology: This qualitative study is based on semi-structured interviews applied to a sample of 14 asymptomatic carriers of FAP mutation of both genders, aged 18 to 40 years old. The interviews were transcribed and analyzed following the procedures of content analysis. Results: Some asymptomatic carriers of FAP mutation took the initiative of doing the presymptomatic genetic testing by themselves, but others did it by insistence of family members and medical doctors. The motives for doing the test included the desire to know one¿s condition since the disease existed in the family, the desire to receive timely treatment and prevent future complications, and the possibility of providing more support to sick family members. Reactions to the positive test result varied from frozen thoughts and the realization that it is apparently impossible to be prepared to receive it, to absence of thoughts due to ignorance about the disease, and to acceptance of the result by those who were already anticipating it, with a positive attitude toward the future. Emotional reactions also varied from shock to indifference due to ignorance about the disease, serenity by those who felt prepared for the result, and relief. Knowing that someone is a carrier of FAP mutation did not affect the life of several participants, who revealed not thinking about the disease. Avoiding to constantly talk about it also contributes to minimize its impact. However, other participants started to live in a state of alert for new symptoms and some reorganized their lives in function of new priorities. Conclusion: The variety of experiences among asymptomatic carriers of FAP underscores the need to adapt clinical encounters to the particular circumstances of each patient through a careful attitude in the discussion of the disease, in the response to concrete concerns and in the presentation of treatment options that address those concerns. This study presents instances of this type of care. © 2015 Sociedade Portuguesa de Neurologia. Todos os direitos reservados.

Language: Portuguese

Type (Professor's evaluation): Scientific