Genetic Counseling, Adjustment, and Advocacy
Kelly
Jackson, M.S.
Certified Genetic
Counselor
Genetic
Counseling
Genetic Counseling is a communication
process, which involves providing
information about the consequences
of the disorder, the chance of developing
or passing on the disorder for a
given person, and ways to prevent
or treat the disorder. This involves
several steps. The first step in
genetic counseling is to assist
the family in comprehending the
medical facts, including the diagnosis,
probable course of the disorder,
and the available management. Next,
genetic counseling helps the family
appreciate the way heredity contributes
to the disorder and the risk of
recurrence in specified relatives.
Then, it helps the family understand
the alternatives for dealing with
the risk of recurrence. Finally, genetic
counseling assists in helping the
family choose the course of action
which seems appropriate to them
in view of their risk, their family
goals, and their ethical and religious
standards, and assist the family in acting in accordance
with that decision. Genetic counseling
ultimately strives to help the family
make the best possible adjustment
to the disorder in an affected family
member and/or to the risk of recurrence
of that disorder. Adjustment is
the step that takes the longest.
Adjustment
Everyone is unique in his or her
adjustment to a new diagnosis, and
there is a normal process of denial,
anger, blame or guilt, grief, alienation,
and acceptance. Some people may
be angry for a long time, while
others may stay in denial. It is
important to understand that people
in the same family may deal with
the diagnosis and care of a child
in different ways. There is enough
pressure on marriage and family
today. When a child is diagnosed
with a genetic disorder, it adds
even more stress to the marriage.
It has been shown that couples with
chronically ill children are at
significant risk for marital distress,
and poor communication and lack
of intimacy and positive affect
are the issues that generally come
up. Many times a parent will focus
only on the child and the treatment
of his or her disease, while putting
their spouse and their own personal
needs on the back burner. While
to some extent the child with a
genetic condition does require more
from a parent than other children
may, it is extremely important to
spend time on the marriage and on
oneself. There may be a need to
enlist the aid of the extended family
members and friends to help in
the care of a child with a genetic
condition.
Burdens
There are many burdens that a genetic
diagnosis brings to a family, including
financial burden, physical burden,
changes in parenting roles, sibling
resentment, risk for psychosocial
adjustment, social isolation, frequent
doctor appointments and hospitalization,
and grief. Once a diagnosis is made,
it is normal to grieve for the "normal"
child. Some parents will feel they
are betraying their child if they
grieve for "what might have
been," but this is a normal
process, which should be allowed.
If not, the grief will be there
but unexpressed, and it may subconsciously
come out in a way that is detrimental
to the parent, the child, or the
family in some way.
Another issue in adjustment
relates to future family planning.
There is often concern among parents
about having another child if there
is a risk for that child to be affected
as well. Prenatal diagnosis is possible
for some genetic conditions, but
it needs to be individualize. In addition,
it is not always informative, meaning
that a yes or no answer may not
be the outcome.
Effect on
Siblings
If there are older children in the
family, adjustment for these siblings
of an affected child may be difficult.
Self-help groups exist in certain
areas of the country for adult or
child-age siblings of individuals
with mental retardation. Fewer groups
exist for other conditions, especially
for rare genetic disorders. More
research has been conducted in the
past few years about the impact
of a chronic disease on a sibling.
Female siblings often have more
extensive and long-term involvement
with their chronically ill sisters
or brothers. Parents are believed
to obtain their daughter's assistance
in caring for the child, reinforcing
a surrogate parent role for these
older girls. There is concern that
as the family roles of these girls
expand, they spend more time engaging
in adult-sponsored tasks, with less
time to invest in peers and social
activities. Thus they may lose out
on many enjoyable aspects of childhood,
as well as on important social learning
that occurs within the peer culture.
Research from the 1950's and 1960's
suggested that boys respond to the
presence of a handicapped sibling
by seeking companionship in the
neighborhood or school, thus escaping
the demands and stresses of home.
There has been some suggestion from
recent research that the older brothers
are more involved in childcare. Siblings often have resentment
and anger because of their disabled
brother or sister and may need
to have professional counseling
to help them develop their own sense
of self. Siblings should have choices
as well as responsibilities, and they should have
lives of their own as well as lives
defined by their role.
Brothers
and sisters reflect parental attitudes.
It has been shown that when mothers
and fathers were affectionate and
actively encouraging their handicapped
child then so were the siblings,
who were also more often seen in
a positive light by the parents.
Understanding a sibling's distress
about a child's disease can shake
the beliefs that enable a parent
to cope and survive. Open discussion
could break down denial in a parent,
overwhelming them with sorrow, anger,
and fear so that they fear loss
of control. Parents sometimes feel
responsible for their children's
lives. They feel they have cheated
their children and failed them because
they cannot avoid burdening them
with sadness and loss. Children
feel the obstacles instinctively
and avoid burdening their parents.
Adults interpret their silence as
acceptance or indifference.
There are resources available to relieve anxiety and cope with stress. The most important resources parents have are open communication and emotional support. "Protecting" siblings from information and excluding them from full participation in family problems increases loneliness and anxiety. Children need to know that their parents can understand their embarrassment, frustration, anger, or confusion even though they may not share it. When children can trust their parents' strength, they can vent their thoughts and feelings. They feel safe in the knowledge that parents can protect their brother or sister and also understand and endure intense reactions.
Advocacy
An advocate is a person who pleads
another's cause, a person who speaks
or writes in support of something.
The family members of a child with
a genetic condition are the best
advocates for that child. They are
the ones who know about day-to-day
problems, strengths, and challenges.
Part of the job of a parent is to
assist their child in getting what
they need, and, in the context of a genetic condition, that
may mean medical care, early intervention services, other
therapies, schooling or special tutoring. One example
of a recent success in advocating
is with the families of PKU (phenylketonuria)
patients in Louisiana. A family-led
effort to pass legislation requiring
insurance companies to reimburse
for low-protein foods was successfully signed into law by Governor
Foster and will take effect January
1, 2002. This law started with a
mother and grandmother talking to
their state senator and asking
him to sponsor the legislation.
The families then contacted their
geneticist's office and enlisted
his help. Because the physician's
office has access to many patients
with the same condition, they were
able to contact those patients to
see who was willing to help with
the effort. These families were
able to call their senators and
representatives to ask for their
support of the bill. The geneticist
and nutritionist, along with several
family members and two young adults
with PKU, gave testimony to the insurance
committees in first the senate and later the House of Representatives
to ask for support for the legislation.
There are several steps to this
process:
1. Raise awareness
2. Organize the campaign
3. Find sponsors
4. Educate yourself
5. Lobby campaign
6. Prepare for hearing
7. Follow up
How to Learn
More
The Hayward Genetics
Center
www.mcl.tulane.edu/departments/human_genetics/main.htm
Alliance of Genetic Support
Groups
www.geneticalliance.org/
The National Society
of Genetic Counselors
www.nsgc.org/
The National PKU News
www.pkunews.org/
Genetics Resource Center
www.pitt.edu/~edugene/
Contact
Information:
kejst4@tulane.edu
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