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Impact of a genetic condition on the family: grief, secrecy, guilt and joy.


Impact of a genetic condition on the family: grief, secrecy, guilt and joy. Dr Heather Skirton Webcast 10 April 2008 References Boss P et al (1988) Alzheimer disease ... – PowerPoint PPT presentation

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Title: Impact of a genetic condition on the family: grief, secrecy, guilt and joy.

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

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.

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

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

Loss, grief and mourning
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.

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

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,
  • Inability to be carer, especially for parents.

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.

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  • Support withdrawn too quickly.

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,

  • Secrecy connected with avoiding stigma (Peters et
    al, 2005) or desire to protect children from
  • 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.

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,

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

  • Having passed on the condition or risk of the
  • 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).

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

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

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.

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

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.

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 dont share the grief
    (Todd, 2007).
  • Trying to resolve the issues internally, without

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).

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

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

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?

  • Email me if you would like a copy of the
    references and resources

  • Genetics Home Reference http//
  • Genetic Interest Group http//
  • Contact a Family

  • Telling Stories, Understanding Real Life Genetics
  • http//
  • Educational Case Studies
  • EuroGentest (under Education Unit)
  • http//

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

  • 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
    Retts child. Brain and Development 9(5)539-42.

  • 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
  • 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.

  • 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

  • Skirton H. (2006) Assessing the need for
    certainty in users of a clinical genetic health
    service. Journal of Advanced Nursing
  • 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.

  • 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.

  • 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.