In medical practice, encountering complex cases that involve both medical and ethical considerations is not uncommon. The following report includes a detailed case involving a patient with a rare genetic disorder, navigating diagnostic challenges and ethical dilemmas. While maintaining patient confidentiality and adhering to HIPAA guidelines, this report aims to provide a comprehensive analysis of the medical and ethical aspects of the case.

 

     A 35-year-old male patient was admitted to the clinic with progressive neurological symptoms over the past few years, including shaking and muscle atrophy. Initial examinations and tests suggested a possible neurodegenerative disorder. However, subsequent genetic testing revealed a mutation in a gene associated with a rare genetic disorder known as Huntington’s disease-like 2 (HDL2). HDL2 is a condition similar to Huntington’s disease—a disease that causes nerve cells in the brain to decay over time—but arises from a different gene mutation. Symptoms include uncontrollable movements (chorea), cognitive decline, and mood disturbances. However, HDL2 differs from Huntington’s disease due to its much lower prevalence and unfamiliarity, making diagnosis and management more challenging.1 As the patient’s symptoms progressed, the medical team prioritized clear communication regarding the diagnosis and its implications. Genetic counseling for the patient and his family became a major ethical focus due to the hereditary nature of the disease. The patient expressed concerns about the potential impact on his immediate family members.

 

Moral/Ethical Elements of the Case

     The ethical principle of informed consent was crucial, particularly regarding genetic testing. The patient needed to understand the psychological implications of learning his genetic status. Counseling addressed the significance of the results for both his health and the potential familial implications. Genetic counseling also provided emotional support, helping the patient process the impact of a positive result while informing family members who might also be at risk. HDL2 is an autosomal dominant disorder, meaning each child of an affected parent has a 50% chance of inheriting the mutation. Genetic counseling provided the patient with options for family planning and facilitated discussions among family members to assess genetic risks.2

As the disease advanced, discussions about treatment options and quality-of-life considerations became ethically significant. Ensuring the patient’s autonomy in decision-making about treatment goals, palliative care, and end-of-life choices required empathetic communication. Given the progressive and neurodegenerative nature of HDL2, it was crucial to address the patient’s developing physical and cognitive limitations. Advanced care planning included managing symptoms such as psychiatric disturbances and dementia while balancing the patient’s values and preferences. A team of neurologists, palliative care specialists, and mental health professionals played a key role in supporting both the patient and his family.

The medical team faced ethical challenges regarding how much information to disclose about the patient’s prognosis and disease progression. Balancing truthfulness with the patient’s emotional readiness was critical to supporting informed decision-making.

 

     Navigating the medical and ethical complexities of rare genetic disorders like HDL2 requires a combination of clinical expertise and strong ethical framework. This case highlights the importance of patient-centered care, respect for autonomy, and the ethical obligation to provide genetic counseling. Addressing the psychosocial impact on the patient and family, while maintaining confidentiality and privacy, remains integral to ethical medical practice.