Psychosocial Issues That Face Patients With Neurofibromatosis Type 1(NF1) and The Role of Genetic Counseling
Neurofibromatosis type 1 (NF1) is an genetic disorder that causes psychosocial issues with varying degrees of symptoms such as cosmetic impairment, learning disability, cognitive dysfunction, etc. Since NF1 is accompanied by externally visible features including development of cafe-au-lait spots and neurofibroma, psychological stress that the affected individuals experience can not be underestimated. Also, because there is no ultimate treatment other than removal of the lesion, the affected individuals have to deal with various kinds of pasychosocial issues for their lifetime. This study is ought to address specific psychosocial and emotional issues faced by individuals with NF1, and emphasize the role of psychologically efficient genetic counseling. Forty six NF1 patients(ages 5-68 years) participated in a survey and an interview for three months starting from August 2009. The format of the survey and the interview was based around three themes: psychosocial issues of NF1 patients on day-to-day living, issues regarding passing down mutant genes to offsprings, role of genetic counseling and condition of idealistic genetic counseling. Results showed that 45(98%) patients believed the disease had negative impact on their self-esteem and 32(70%) patients had experienced a feeling of alienation from their social relationship. When analyzing this data by sex, 92% of female participants and 52% of male participants answered that they had experienced a feeling of alienation. Also, 96% patients answered that the disease had affected their quality of life and the 52% of participants was found to relieve their psychological stress by having conversation with their family members. Female patients were more likely to relieve stress by having conversation with their family than male patients and tend not to expose their disease to people other than the family. Approximately 80% of adult participants said that they had experienced a guilty feeling about passing down mutant genes to their offsprings. Furthermore, 95% of participants with family history answered that they had experienced a guilty feeling for their children. 91% of the patients acknowledged the importance of genetic counseling and expressed complains about the limited counseling time caused by lacking number of genetic counseling professionals. Also, patients were more likely to feel psychological instability and pressure after the counseling session. This is thought to be psychologically natural reaction of denial when patients first know about their disease. Our findings suggest that NF1 patients face many psychosocial issues such as lowered self-esteem, a feeling of alienation, and a guilty feeling about inheriting the disease. Therefore, genetic counselors would be able to give psychologically efficient counseling by acknowledging these psychosocial issues of NF1 and understanding about psychological condition that NF1 patients and their families face throughout their whole lives.
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