Impact on Families
by Brenda Finucane, MS, CGC, Amy Cronister, MS, Allyn McConkie-Rosell, PhD, CGC

Finding out that a child has a serious learning problem can be a terribly sad experience for parents. When the cause of the problem is hereditary, the news can be seriously difficult to accept. For many parents, learning about the fragile X syndrome causes a grief reaction, a mourning for the loss of hopes and expectations which are part of every family. This grieving, with all its feelings of anger, depression, and intense sadness, is certainly not unique to the fragile X syndrome. It is a normal and natural reaction whenever a person experiences a loss, whether it be the death of a person or the giving up of ideals and expectations.

Even parents who learn about the diagnosis after many years are often surprised by the intensity of their grief reaction. They may feel that something is wrong with them for becoming upset and depressed after they had coped very well with their child's disability for years. This "opening of old wounds" can be a painful and confusing experience for many families, particularly for those who think it is an abnormal reaction. Although painful, this mourning is in fact a healthy way of dealing with bad news, and a necessary step in accepting a genetic diagnosis.

Often the genetic implications of the fragile X syndrome reach family members who are not expecting the information. The first reaction of a sister, for example who learns she may be a carrier of the fragile X mutation, is commonly one of denial or anger. Rather than feeling grateful, the relative may resent this information, wishing she could return to a time when she did not worry about such matters.

The word "carrier" itself is an unfortunate term. The events that surround the passing on of genes are played out even before a baby is conceived, with no voluntary control on the part of the parents. We are all carriers of some genetic condition, since every person has several genes which have the potential to cause serious genetic disease in his or her children. Usually, the only time we find out about these genes is after the birth of a child with a hereditary condition. In other words, people with the fragile X mutation may not have any greater number of harmful genes than do other people, but because of the diagnosis of a relative, they just happen to know that one of them is the fragile X mutation.

Despite this, carriers of the fragile X mutation may suffer from feelings of lowered self esteem. Upon hearing that they are carriers, many people state that they feel "defective" or "imperfect." This reaction is common among carriers of other genetic conditions as well. In some genetic conditions, both parents of an affected child are carriers. Emotions may be just as intense but are shared equally by both partners. In the fragile X syndrome, only one partner is a carrier, and he or she alone must shoulder the burden of "carrier" guilt.

Seeking support from family, friends, and even professionals can be especially helpful in coping with these intense feelings. Often, talking with another parent who can identify with what you are going through is most helpful. For family and support services in your area, contact the National Fragile X Foundation or your local genetic counselor.

Genetic counseling

Informing family members

Brenda Finucane, MS, CGC, Amy Cronister, MS, Allyn McConkie-Rosell, PhD, CGC