Genetic Counseling for Lysosomal Storage Diseases
In many ways, the role of the genetic counselor working with patients and families with a lysosomal storage disease is similar to a counselor in other pediatric and adult counseling situations. The goals of counseling; education, access to health care, and supportive counseling are the same. Although the goals of counseling are simply stated, an effective counseling session is always a complex interaction. It is an empathic exchange where the counselor promotes understanding of the particular disease, the inheritance pattern, takes a family history, provides recurrence risks, and reviews diagnostic testing, disease management issues, and supportive resources, while simultaneously learning about family structure, dynamics, and the impact of the diagnosis. The counselor assesses the level of understanding about the disease and the appropriate resources to assist the patient and family facing an inherited disease. A balance of teaching and counseling and the ability to be flexible and responsive to the counselee is key for achieving an effective interaction. The chapter is designed as a resource for counselors or other health care providers interested in an update on counseling issues for this group of treatable lysosomal storage diseases. Six genetic counselors who have been involved with the lysosomal storage disease community for the last decade draw on their counseling expertise to provide a disease summary and clinical counseling pearls for Gaucher disease, Fabry disease, Mucopolysaccharidosis (MPS) type 1, MPS II, MPS VI, and Pompe disease.
KeywordsGenetic Counseling Enzyme Replacement Therapy Fabry Disease Gauche Disease Pompe Disease
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