Ethical Issues Encountered within the Context of an Adrenoleukodystrophy Case

Abstract

Adrenoleukodystrophy (ALD) is a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very-long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogeneous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. As an X-linked disorder, ALD presents most commonly in males, however approximately 50% of heterozygote females show some symptoms later in life. In the case presented in this paper, the subject is a 19-year-old woman who applied to the genetics polyclinic. Her grandmother, mother and two siblings have ALD. She wonders and is concerned about her status as a carrier. Her parents do not want their daughter to take a diagnostic test and the sick siblings in in the family are hidden from the person to whom she will get married. The patient applied to the genetic outpatient clinic without the knowledge of her family, the first tests were performed and the other sick patients at home were also suggested to take a test for the diagnosis to be confirmed. That the patient was prevented from taking a test, that her health information was not shared with the person she will get married to and the patient's wish to have her six-year-old sister/brother, who can not make his/her own decisions take the test, necessitated the discussion of the case ethically.