LIFE
STAGE CASE
STUDY PRECONCEPTION Ethical Issues: Legal Issues: Social Issues: PREGNANCY & PERINATAL PERIOD Ethical Issues: Pregnancy management issues (eg.
termination) may arise if XYY is diagnosed prenatally during amniocentesis
or chorionic villus sampling. As there is a variable outcome for each individual
with this condition, it is not known how seriously affected each foetus
will be. Legal Issues: Social Issues: Ethical Issues: Legal Issues: Social Issues: Ethical Issues: Some
forms of EDS may be misdiagnosed as child abuse (due to splitting of the skin,
bruising, haematomas etc.) Reproductive decisions may be difficult due
to the autosomal dominant mode of inheritance and the very limited availability
of prenatal diagnosis (only possible if the mutation responsible has been
identified). Legal Issues: Disclosure
of Ehlers-Danlos syndrome for life/health insurance purposes will be necessary. Social Issues: For
those with vascular EDS, pregnancy is associated with a high risk due to
premature rupture of fetal membranes or rupture of the uterus. Social stigmatization
may occur, particularly when there is disfigurement due to severe scarring.
Shortened life expectancy is possible in the vascular type of EDS. life-style
adjustments may be advisable, especially for children - there needs to be
a balance between the benefit of less frequent injuries and the disadvantages
of over-protection from parents/guardians. Psychological problems may arise due to chronic
pain and disability, fear of significant and painful skin ruptures, unemployment
or restriction of lifestyle due to symptoms such as joint hypermobility,
fragile skin etc. Ethical Issues: Legal Issues: Disclosure
of vWD status for life/health insurance purposes will be necessary. INFANCY Ethical Issues: Legal Issues: Social Issues: Possible confusion
with physical abuse in children. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml Ethical Issues: Legal Issues: Social Issues: http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml Ethical Issues: Pre-natal screening tests result in pregnancy management issues. Genetic screening
as an adult can result in reproductive dilemmas. Legal Issues: Social Issues: CHILDHOOD & ADOLESCENCE Ethical Issues: Legal Issues: Social Issues: http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml Ethical Issues: If mother is a known carrier
for DMD, then pre-natal diagnosis of the condition may result in pregnancy
management issues (ie. termination). Legal Issues: Social Issues: Impact of bereavement on family due to death of youth or young adult. Ethical Issues: Pre-natal screening is available for some forms of RP, which
may result in pregnancy management issues. Legal Issues: Declaration or concealment of condition on insurance forms. Social Issues: Deteriorating vision will impact on ability to carry out normal day to day
tasks, eg. driving, which will affect not only lifestyle but also potential
careers. ADULT 1 Ethical Issues: Legal Issues: Social Issues: Disease typically manifests in
late 30s onwards, so individual may already have children before they know
about
their
own
condition. Human
Genome Project: http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml Ethical Issues: Sharing information within the family regarding
screening for genetic conditions. Legal Issues: Social Issues: Chronic worry about developing breast cancer
due to incidences of other cancers in the family. Vigilance and self-examination
regarding one's own health and being able to discuss this with other family
members and health professionals. Ethical Issues: Whether to get screened for the condition
if a hereditary risk is established. Legal Issues: Social Issues: Regular medical check-ups are
needed to determine current state of bowel health. A colostomy bag may
be temporary or permanent; it can present many physical and social challenges
for an individual and family to cope with. ADULT 2 Ethical Issues: Whether to get tested for the condition if present in the family
and then sharing/concealing this information from other family members, particularly
offspring. Legal Issues: Declaring/concealing information on health and life insurance
forms. Social Issues: Patients may already have children before they
know about their own condition. Mental and physical deterioration may progress
over
many years, having a huge
impact on the individual, family and friends. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml Ethical Issues: Whether to get tested for the condition if present in the family
and then sharing/concealing this information from other family members, particularly
offspring. Legal Issues: Declaring information on health/life insurance applications. Social Issues: Disease typically manifests in late 30s onwards, so individual
may already have children before they know about their own condition. End Stage
Renal
Disease (ESRD) means that kidney dialysis or a transplant are the only options
for maintaining health; so large amounts of each week will be spent undergoing
dialysis unless a kidney donor can be found. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml
Preconception
1.
Heather & Ian.
Pregnancy & Perinatal
Period
Infancy
Childhood & Adolescence
Adult
1
Adult
2
Pregnancy management issues (eg. termination) may arise if a NTD is indicated
from triple blood test or diagnosed during ultrasound. Anencephaly is not
compatible with life but spina bifida is not necessarily life-threatening,
depending on the severity of the defect.
Excess physical energy during childhood should be directed into play, sports
or other physical activities. Early theories that the XYY genotype predisposed
males to criminal tendencies have been shown to be invalid.
Pregnancy management issues (eg. termination) may arise if trisomy 21 is diagnosed
prenatally. As there is a variable outcome for each individual with Down
syndrome, it is not known how seriously affected each foetus will be.
For families with a known balanced translocation for trisomy 21, reproductive
options include:
1. natural conception
2. prenatal diagnosis
3. pre-implantation genetic diagnosis
4. gamete donation
5. adoption.
It is important to note that many people carrying this gene may be asymptomatic or have very mild symptoms but can still pass the condition on to their children - who could have more severe symptoms than their parents. In Type 1 vWD, the condition is often not diagnosed at all unless an individual has excessive bleeding following surgery, during or after childbirth, or a major accident.
Disclosure to relatives may be an issue for affected individuals. However, testing of family members can help to identify the type of vWD and will also identify any family members carrying the mutated gene. This information will enable affected family members to access appropriate health care in the future.
For an explanation of the way vWD is inherited see:
http://www.haemophilia.org.za/Vonherit.htm
For women with Type 1 vWD, there may be life-style issues associated with heavy
periods (menorrhagia).
Women with Type 1 vWD do not typically have problems during pregnancy.
However they may need their levels of clotting factor VIII measured at delivery
and for two weeks afterwards to ensure that levels of this molecule are adequate.
This intervention may act to cause extra stress in the postnatal period. Parents
with a newly diagnosed child (but who were unaware that they were carriers) may
experience emotional problems such as shock, guilt, anger and fear with regard
to the diagnosis of vWD and will require additional support at this time.
Whether to share genetic information within and/or beyond the family. See the
following article in the British Medical Journal: http://bmj.bmjjournals.com/cgi/content/full/329/7458/165?etoc
For families with a known balanced translocation, reproductive options
include:
1. natural conception
2. prenatal diagnosis
3. pre-implantation genetic diagnosis
4. gamete donation
5. adoption
Physiotherapy and medical management of cystic fibrosis
are life-long activities.
Life expectancy typically 30 years.
Obsessive behaviour (eg perseveration) can be a
challenging aspect of the Prader-Willi syndrome. Strict dietary management
strategies are also difficult to
implement.
Genetic counselling for female family members who may be carriers.
Whether to get tested for the condition if present in the family and then sharing/concealing
this information from other family members, particularly offspring.
Declaring information on health/life insurance applications.
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