Affected members of this family have limited healthcare access, and rely heavily on family support for care. Genetic and clinical diagnosis of these patients was impeded by lack of resources and lack of access to specialty care. Importantly, obtaining a definitive diagnosis has had a positive impact for this family by facilitating genetic counseling, education, community outreach, and dispelling myths regarding this hereditary disease and its progression.
Keyphrases
- healthcare
- palliative care
- quality improvement
- end stage renal disease
- newly diagnosed
- mental health
- ejection fraction
- genome wide
- squamous cell carcinoma
- pain management
- peritoneal dialysis
- smoking cessation
- copy number
- prognostic factors
- radiation therapy
- hepatitis c virus
- case report
- dna methylation
- patient reported
- rectal cancer
- men who have sex with men
- hiv testing