Obstacles in the lives for those with Von Hippel Lindau disease.

Morbus Von Hippel Lindau (VHL) is still an unkonwn term for many people. It refers to a genetic oncological desease affecting 1/39000 to 1/50000 persons. VHL is connected with a great deal of manifestation. It is a disease with a very unstable prognosis. Those diagnosed with VHL require medical care by a large number of specialists. However, an early detection may significantly improve the quality of patients´ life. The disease is manifestated by numerous negative side effects, which is the main topic of my bachelor thesis. The research deals with "Obstacles in the lives for those with Von Hippel Lindau disease." and identification of bio-psycho-social effects of the disease on the respondents and their families. Additionally, identification of negative factors that can influence the respondents´ lives. The research is based on four issues: What are the biological effects of the disease? What are the psychological effects of the disease? What are the social effects of the disease? What are the negative factors affecting the lives of respondents? The research part of the thesis results from a qualitative survey accompanied by the method of semistructured individual detailed interviews and case histories. The respondents of the survey are two women diagnosed with VHL, one of their close family members and a specialist taking care of the women the chief nurse of Ophalmology Department in Faculty Hospital in Brno. The survey was made in Jihlava and Brno. The answers recorded in pen and drafted in schemes in particular gave a comprehensive view of the most significant effects. The results showed that the disease can influence not only the biological aspect of patients diagnosed with VHL but also the social and mental one. The former mainly results from the variability of the disease. Both women account pain, dispepsia, pancreatic cysts and hemangioblastoma. Moreover, the respondent 1 reports progressive hamengioma retina resulting in the loss of eyesight and the respondent 2 serious DM and trombofilia. Naturally, these handicaps have effects on the social life of both respondents namely the loss of job. This refers to the respondent 1 due to the loss of her eyesight. Both report restraints in social activities, relationships and minimizing contacts with their friends. According to the survey results the mental effect is more or less the same for both the respondents, yet the least important. They mention mainly fears, hopelessness, determination and distrust. Other negative factors affecting the respondents´ lives are insecurity, isolation, lack of knowledge of the disease and stigma. The results showed the biological effect of the disease as the most significant followed by the social and psychological ones. The interviews proved that both laymen and professionals have inadequate knowledge about the disease which, in the Czech Republic, has very rarely been researched while foreign servers offer quite extensive studies on this issue. Especially in the US there are specialized clinics treating patients diagnosed with VHL which is, of course, a result of a large number of patients concentrated in this large territory. Thus, these factors enable patients be centred in specialized clinics. This bachelor thesis may be regarded as a comprehensive study of Von Hippel-Lindau disease. The output of the practical part is an information manual about this disease