Psychosocial Issues That Face Patients With Charcot-Marie-Tooth Disease: The Role of Genetic Counseling
Journal of Genetic Counseling (Vol. 14, No. 4; pp. 307-318)
Angela Arnold (1, 4), Meriel McEntagart (2) and David S. Younger (3)
(1) Royal Free Hospital, 8th Floor Oncology Suite, Pond Street, London, NW3 2QG
(2) Department of Medical Genetics, St. George’s Medical School, Cranmer Terrace, London, SW17 0RE
(3) NYU School of Medicine, Department of Neurology, 550 First Avenue, New York
(4) Great Ormond Street Hospital, Clinical Genetics Unit, Institute of Child Health, 30 Guilford Street, London
Charcot-Marie-Tooth (CMT) disease is a hereditary debilitating progressive muscular atrophy and sensory neuropathy of the distal extremities. CMT is usually nonlife threatening. Signs of the disease usually present in childhood or in young adulthood and the level of disability can be variable within and between families. Research addressing specific psychosocial and emotional issues faced by individuals with CMT is limited. Fourteen adults with a clinical and/or molecular diagnosis of CMT (ages 32–74 years) consented to an audio taped interview. The format of the interview was based around an informal questionnaire to prompt and guide the interviewee to describe their experiences of living with a disabling genetic disorder. The interviews focused on their experiences of first symptoms and diagnosis, their life experience with CMT, their limitations due to disability and the role of genetic counseling.
This study identifies and explores life issues that individuals with CMT may face, specifically grief over the loss of independence, emotional pain and stress such as embarrassment and guilt of passing on a gene mutation, impact on quality of life, the impact of wearing orthopedic devices, and fear of progressive disability. Our findings suggest that that there are emotional and psychosocial issues specific to affected individuals at different life stages and genetic counselors need to be aware of these issues in order to provide age appropriate support and advice to individuals affected by CMT.
Abstract available online.
(C) Journal of Genetic Counseling.
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