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. Next, genetic counseling assists in helping the family choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, and act 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, friends, etc. 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 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 individualized, and 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, etc. 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 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, special tutoring, etc. 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 successfully was 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 their 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 then 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, then 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
pitt.edu/~edugene/

Contact Information:
kejst4@tulane.edu