Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

At-Risk for Diabetes: Coping with the News

This study assessed 37 children's and 38 adults', as well as their family members' (39 mothers and 26 spouses), coping responses to the news that they (or a loved one) were islet-cell antibody positive (ICA+) and at risk for type 1 diabetes. The Ways of Coping Checklist (WCC) was administered 4 months after ICA+ notification and at follow-up 10 months later. Participants' state anxiety was measured a few days after ICA+ notification and again 4 months later, at the time of the initial WCC administration. Children's coping strategies differed from those of adults, and mothers' coping strategies differed from spouses'. Initial state anxiety in response to ICA+ notification was related to how participants subsequently coped with the news. Coping, in turn, was related to maintenance of state anxiety over time.     

The emotional health of the clergy

Summary and conclusions The health we seek is creative growth through all the relationships of life. We need an elastic concept of health, with a capacity to accept limitations and to do our best with these limitations in creative efforts to keep growing.We need to be aware of the particular hazards in this vocation, which may endanger the emotional health of the clergyman. Seeing these more clearly we can better prepare to cope with them.We must know to whom we belong, and learn to be at home with those persons and groups who become our living, working, and reciprocal community of outgoing care and forgiving love.If we can see emotional health as a dynamic process of ever-growing outreach and integration, we will value the stresses of our life and work. The pains as well as the joys contribute to the challenge and fulfillment of persons who grow through creative encounter with other persons.Continuing education will be needed for this crucial vocation of ministering to others, as it is in every serving profession where the complexities of life are so baffling. Academic courses and library study, though needed, will not suffice to prepare for effective work with other persons in face-to-face relations. There will be constant need for supervised evaluation of what we are and seek to become to others in the critical moments of meeting, listening, and responding as person to person in the ultimate concerns of our life in community.He is also a member of the Academy.