1. Impact of a genetic condition on the family: grief, secrecy, guilt and joy. Dr Heather Skirton Webcast 10 April 2008

2. Aim of this Webinar To discuss some of the ways a genetic condition can have an impact on the family as a whole and individual family members. To look at theories that might help us to understand individual responses. To discuss how health professionals and others can support families.

3. Literature drawn from 3 main areas Huntington disease. Hereditary breast and ovarian cancer. Having a child with a learning disability.

4. Plus personal experience and written accounts given to me by families (pseudonyms used) My sincere thanks to all the families who contributed their accounts

5. Loss, grief and mourning

6. Grief issues Families experience a series of multiple losses, leading to continual cycles of grief related to: Uncertainty. New diagnoses in relatives. Loss of function in family members.

7. Security about the future. Loss of peace of mind. Potential for relationships and family. ‘Virtual’ deaths. Actual deaths.

8. Outcomes of positive test Psychosocial death - relationships in family change, e.g. lack of dependence by other family members on person found to have the mutation. Loss of uncertainty - of one type only- hypervigilance may follow (Soltysiak et al, 2008). Inability to be carer, especially for parents.

9. Outcomes of negative test Belonging to the family- facing the common threat - disconnection may even result in suicide (Sobel & Cowan, 2003). Mental health problems - delayed grief. Mourning for lost opportunities. Specialness, meaning to life.

10. Disenfranchised grief (Doka, 2002) Loss not legitimized or support absent. Disregard for enormity of loss of child with LD ‘freed from burden’ (Todd, 2007). Lack of research into grief around death of person with LD conveys message about value of those children (Todd 2002). Support withdrawn too quickly.

11. Disenfranchised grief Fanos and Mackintosh (1999) recommend giving hope for the future, but possibly conflicts with parental need to grieve. Perinatal hospice (Ramer-Chrastek and Thygeson, 2005).

12. Secrecy Secrecy connected with avoiding stigma (Peters et al, 2005) or desire to protect children from worry. Members who know the secret live with form of anticipatory loss that they cannot share (Rolland, 1999). Members of families in which the disease is kept secret at higher risk of mental health problems, including suicide risk.

13. Secrecy and support Desire to protect children isolates parent, cutting off access to other family support (Speice et al, 2002). Has an impact on the way people cope with pre-clinical changes of HD (Williams et al, 2007).

14. Guilt Being the survivor. Causing distress to other members of the family. Needing respite. Not being there to save them (Todd, 2007).

15. Guilt Having passed on the condition or risk of the condition. May be worse in carriers of X-linked conditions (James et al, 2006). Evidence of guilt in men in BRCA families (Hallowell et al, 2006).

16. Joy and humour ‘Better and closer’ family by facing the common threat. Value life more. May make family more sympathetic to others (Goodship, 1987). Giving back (Todd, 2007, p12).

17. Discordance in families Smouldering anger - arguments over unrelated issues. Different ways of coping. Pressure to seek information or be tested. Skewing of relationships.

18. Theoretical explanations ‘Need for cognitive closure’ - personal difference in need for certainty and comfort with ambiguity (Skirton, 2006). ‘Monitors’ versus ‘blunters’ (Miller, 1987) - information may force ‘blunters’ to face situation prematurely.

19. Sources of ambiguity Healthy vs affected. Supportive vs dependent roles. Secrecy vs need for support. Guilt vs lack of control.

20. Ambiguous loss (Boss, 1999) Physically present but psychologically absent - as in conditions involving dementia. Also where positive genetic test in asymptomatic individual (Sobel & Cowan, 2003). No associated rituals. Secrecy surrounds the loss. Conflict around keeping the person alive.

21. Resolving ambiguity May try to resolve this by changing nature of relationship e.g. ‘falling out of love’ or creating greater dependence. Cutting off from others who don’t share the grief (Todd, 2007). Trying to resolve the issues internally, without support.

22. How can health professionals help? Support clients to manage emotional effects (McAllister et al, 2007). Discuss family issues, including relationships and family style. Include psychosocial issues in both letters and written literature (Lewis et al, 2007).

23. Include counselling as standard with testing, to reduce belief that family members must have mental health problems (Speice et al, 2002).

24. Discussion points 1.Are you aware of any other areas of ambiguity in living with a genetic condition? 2.Should psychological support be part of the ‘package of care’ from genetic services or be provided in primary care?

25. Discussion points 3. Do families in your geographical area have access to adequate psychological support? 4. Do you think that counselling skills training is essential for health professionals working in this area, or just desirable?

26. Heather.skirton@plymouth.ac.uk Email me if you would like a copy of the references and resources

27. Resources Genetics Home Reference http://ghr.nlm.nih.gov/ Genetic Interest Group http://www.gig.org.uk/ Contact a Family www.cafamily.org.uk

28. Resources Telling Stories, Understanding Real Life Genetics http://www.geneticseducation.nhs.uk/tellingstories/i ndex.asp Educational Case Studies www.genesense.org.uk EuroGentest (under Education Unit) http://www.eurogentest.org/

29. Other sources of information Skirton H & Patch C (2002) Genetics for Healthcare Professionals, Oxford, BIOS. Skirton H, Patch C, Williams JK (2005) Applied Genetics in Healthcare. Abingdon, Taylor and Francis.

30. References Boss P et al (1988) Alzheimer disease and ambiguous loss In Chilman et al [Eds] Chronic illness and disability: Families in trouble series. P123-140, Beverly Hills, Sage. 1999. Fanos JH, Mackintosh MA, (1999) Never again joy without sorrow: the effect on parents of a child with ataxia-telangiectasia. American Journal Of Medical Genetics 87(5):413-9. Goodship S (1987) Stress in the family of the Rett’s child. Brain and Development 9(5):539-42.

31. References Lewis C, Mehta P, Kent A, Skirton H, Coviello D. (2007) An Assessment of Written Patient Information Relating to Genetic Testing from Across Europe. European Journal of Human Genetics 15:1012-1022. McAllister M et al (2007) The emotional effects of genetic diseases: implications for clinical genetics. American Journal Of Medical Genetics. Part A 143 (22): 2651-61. Miller SM (1987) Monitoring and blunting: validation of a questionnaire to assess styles of information seeking under threat. Journal Of Personality And Social 52(2):345-53.

32. References Peters K et al (2005) Living with Marfan syndrome: coping with stigma. Clinical Genetics 68(1): 6-14. Ramer-Chrastek J & Thygeson MW (2005) A perinatal hospice for an unborn child with a life-limiting condition. MV International Journal of Palliative Nursing 11(6):274- 6. Rolland JS (1999) Families and Genetic fate: a millennial change. Families, Systems and Health 17(1):123-131.

33. References Skirton H. (2006) Assessing the need for certainty in users of a clinical genetic health service. Journal of Advanced Nursing 55(2):151-158. Sobel S & Cowan CB (2003) Ambiguous loss and disenfranchised grief: the impact of DNA predictive testing on the family as a system. Family Process 42(1):47-57.

34. References Soltysiak B et al. Exploring supportive care for individuals affected by Huntington disease and their family caregivers in a community setting. Journal of Clinical Nursing (in press). Speice J et al (2002) Family issues in a psychoeducation group for women with a BRCA mutation. Clinical Genetics 62(2): 121-7.

35. References Todd S (2007) Silenced grief: living with the death of a child with intellectual disabilities. Journal of Intellectual Disability Research, 51(8): 637-648. Williams JK et al No one else sees the difference: "family members' perceptions of changes in persons with preclinical Huntington disease. American Journal Of Medical Genetics. Part B.144 (5)636-41.