|
AAMFT Consumer
Update
Genetic Disorders
 Decoding the human genome
has resulted in enormous scientific progress in the understanding of
health and disease, and an understanding that most diseases and conditions
have a genetic component, not only in the cause of disease, but also
disease susceptibility and resistance, diagnosis and progression, and
responses to illness and its treatments. We all have genetic conditions;
some of us know which ones, others do not. In the future, our genetic
blueprint will allow for more specific understandings about individual
susceptibility to particular diseases, so that prevention strategies can
be targeted and individualized.
Genetics
involves the study of
heredity,
focusing on single genes and their variations. A genetic disorder
is a disease that is caused by an abnormality in an individual's DNA.
Abnormalities can range from a small mutation in a single
gene
to the addition or subtraction of an entire chromosome or set of
chromosomes. Diseases such as Huntington disease or cystic fibrosis are
single gene disorders. Genomics is the term given to both single
gene and multifactorial genetic conditions; it covers interactions among
genes and between genes and the environment. Genomic conditions include
heart disease, diabetes, some breast and colon cancers, etc.
Screening or Testing.
Today, individuals and families can take advantage of
genetic screening or testing, which can identify the
likelihood that a person might develop an inherited disease, such as
Huntington, Alzheimer's, sickle cell disease, or various types of cancer.
The impact on the family can be enormous, in terms of decision-making,
communicating risk information, and managing the information and the
potential disease over time. Though most individuals adjust to the
information over time, for some, feelings of guilt, shame, anger, and
isolation can be an issue. The process of learning about a genetic
condition can activate family patterns of communication and challenge
typical roles and beliefs. Considerations for the family include:
·
Am I,
or is my primary care clinician or genetic specialists, concerned that my
family has a genetic condition?
·
What
professionals should be part of my decision-making? (Primary care
clinician, geneticist and genetic counselor, medical/surgical specialist,
family therapist, clergy, etc.)
·
What
family members should be part of these decisions because they may be "at
risk" genetically and/or emotionally? Spouses/partners? Extended family?
·
When
and how should risk information be shared within the family?
·
How
might decisions about having children be affected by the ability to access
genetic information?
·
At
what age should children be told they may be at risk for a genetic
disease?
Different illnesses are likely to provoke different responses in different
families, depending on their health beliefs and previous experiences with
illness and loss. The family may experience more intense feelings of
impending loss when there is a high likelihood for a disorder to develop,
when it is expected to be severe, when the timing in the life cycle is
predictable, and when no effective prevention or treatment is available to
alter the onset or progression of the disease.
Genetic information that one will likely develop Huntington disease
includes knowledge of the approximate timing of onset at midlife, and the
probable course and cause of death. For some, acquiring such information
can be very emotionally challenging. However, others find that learning a
disease has a predictable course and timing helps focus priorities and
life planning. It is important to note that major life changes may magnify
feelings of loss and concern. Such changes include children growing up and
leaving home, marital/partner commitment, planning to have children,
relocation or retirement, and divorce or remarriage.
Getting Professional Help
Any
marriage and family therapists who work with families with health concerns
(also called medical family therapists) can help individuals, couples, and
families cope with challenges to communication, problem solving, and
intimacy that can come with the knowledge of increased genetic risk and
the experience of symptoms and treatment of disease.
-
Raising the possibility of any genetic condition, through screening or
testing, can affect the family physically, emotionally, psychologically,
and interpersonally. An appropriate practitioner will be
family-sensitive, family-centered, family-supportive, and collaborative.
He or she can play an important role in providing both initial and
periodic family consultations (that include education about the common
family strains and challenges) or intensive counseling in collaboration
with primary care and genetic specialists to help families considering
genetic screening or testing, living with genetic risk information, and
managing genetic conditions. A genetic
healthcare team composed of a primary care clinician, genetic
specialists, a medical family therapist, and perhaps others may assist
the family by:
· Identifying
the likelihood that certain diseases or conditions may develop based on
genetic information, and then anticipating the timing of the expected
disorder in the person's life cycle.
-
Helping families prepare pragmatically and emotionally for expected
challenges, such as: living with uncertainty, caregiving strains, and
losses associated with various genetic conditions as they may unfold.
-
Helping families create meaning that sustains hope and promotes mastery.
-
Identify effective treatments, or teaching coping skills for disorders
with little hope for treatment.
A medical family
therapist can provide consultation as patients and families cope with new
information, work through its meaning, and decide with whom and how to
communicate it. Long term, the primary care clinician provides medical
follow-up, while a family therapist can provide periodic psychosocial
follow-up to families as they experience the challenges of genetic
disorders themselves and in new generations. Family consultation or
therapy needs to be available for those who desire further counseling
regarding decision-making, experience serious distress, and/or have a
history of mental disorder, family conflict, or substance abuse.
The emerging field of genetic testing and
genomic medicine presents new challenges for living with uncertainty and
threatened loss. Acquiring and living with genetic information and
anticipating possible or likely future loss will increasingly become part
of the fabric of our personal and family lives. It will expand the meaning
of threatened loss to include not only our immediate, but also our
extended families and future generations. And, it will increasingly impact
present and future life cycle planning.
Resources
Books
A Time to Decide, A
Time to Heal, 4th Ed, by M. Minnick, K. Delp,
and M. Ciotti, 2000. St. Johns Michigan: Pineapple Press.
Difficult
Decisions: For Families Whose Unborn Baby has a Serious Problem,
by P. Fertel, S. S. Holowinsky, P. Iams, M. Winterstein, S. Gatlin, and
S. Scribner, 1988. Omaha Nebraska: A Centering Corporation Resource.
Waiting with
Gabriel, by A. Kuebelbeck, 2005. Omaha Nebraska: A
Centering Corporation Resource.
Online
Genetic conditions:
www.geneticalliance.org
Infertility:
www.resolve.org
Pregnancy and neonatal loss
www.hygeia.org
Mothers in Sympathy and Support:
www.missfoundation.org
For
children and teens who have lost a sibling:
www.juliesplace.com
by
Susan H.
McDaniel, PhD and John S. Rolland, MD.
Click
here to purchase this or other informative materials from AAMFT.
Marriage and family therapists are mental health professionals who treat a
wide array of disorders, working with individuals, couples, and families.
Marriage and family therapy clients report that they are highly satisfied
with the services they have received, and research shows that marriage and
family therapy is a cost-effective, short-term, and results-oriented form
of treatment.
The American Association for Marriage and Family Therapy (AAMFT), the
professional organization representing marriage and family therapists,
believes that therapists with specific and rigorous training in marriage
and family therapy provide the most effective mental health care to
individuals, couples, and families. This brochure is courtesy of:
the AAMFT.
Visit the AAMFT
TherapistLocator.net, a public service of the
AAMFT. There you will find information about a range of problems facing
today's families, and you can search for a qualified family therapist in
your area.
|
