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Vol. 8: Winter, 1992
Consumer Issues in
Genetics Services
From the Editor and Authors:
This issue of the Mountain States Regional Genetics Services network Newsletter takes a very different approach from past - and probably future - issues. It was contributed by the MSGRCC committee on Consumer Issues, which is composed of medical genetics professionals, parents, and public health workers. It is this diversity in knowledge and in perspective which, I believe, gives strength to the committee and to this Newsletter issue. the diversity will be easily recognized in both content and style of the sections of this issue, but to homogenize style would be to diminish the message. Please keep this in mind as you read.
In contrast to other issues, in which the individuals contributing components of the newsletter are not identified, I thought it would be helpful for the reader to know the background of the contributors in order to best appreciate their unique perspectives.
I hope that this departure from the usual newsletter content proves useful to physicians of the region.
Suzanne B. Cassidy, M.D.
Editor
Parent Support Organizations for Genetic Disorders
The Importance to Physicians of Parent Support Groups for Rare Conditions
by Jack Dolcourt, M.D. Neonatologist
Parent support groups have traditionally helped fill the void between the medical system and the "daily grind" of the everyday world. Parent groups generally function to help families cope with the unique demands imposed by an affected child, but clearly support groups do more than make parents "feel-good".
Like any special interest group, they can serve as educators for new parents and for the community, and they can serve as a clearing house for disseminating news of important new advancements or therapies. For rare conditions, support groups take on the additional roles of "expert" and "advocate". I will examine these roles from the vantage point of a physician who utilizes support groups for pediatric patients, and as a father of a child with a rare genetic condition (Freeman-Sheldon syndrome).
The birth of an affected infant or the diagnosis of a genetic condition can be devastating. After parents are suddenly faced with medical and/or surgical decisions, they usually want to know how this condition will affect the child and the family. They want to know what they can expect to happen as the baby develops into childhood.
Physicians are "experts" when it comes to the pathophysiology of the illness, inheritance patterns, options in intervention, and the technical aspects of a surgical procedure. Parent support groups can be the "expert" to help deal with practicalities of daily life, as well as to help navigate the increasingly complex medical system. In the process, families find commonality and comfort by knowing they are not unique.
When a particular condition is common, there are probably many physicians who, through professional education, research and experience, are truly "experts." The same is not the case when a condition is rare. The physician who is an "expert" in one subspecialty may have limited (or no) first hand knowledge of the specifics of the rare condition.
Misplaced expectations can lead to disappointment and frustration for both the physician and the parents. "Expert" is a relative term. When applied to a rare condition, the word "expert" may actually mean that the physician has previously seen a single case. Parent support groups have the ability to enhance expertise by guiding cases to specific physicians, thereby increasing and broadening the experience of these "experts".
Support groups create larger cohorts. With that may come the recognition of new facets of the genetic condition. Seemingly isolated events may become recognized to be recurring themes. For example, despite an article in the medical literature stating the contrary, malignant hyperthermia (a potentially lethal condition triggered by certain anesthetic agents) has occurred in two of 37 families in the Freeman-Sheldon Parent Support Group. Armed with this (anecdotal) information, anesthesiologists may choose anesthetic agents which are safe for malignant hyperthermia-suspected individuals. Only through developing a large enough cohort is it possible to recognize important recurrent problems.
- Navagating the rapids
If only there were maps for navigating all rivers! Whenever a child has a rare genetic condition, the river is uncharted. A resourceful family who has "been there" can define the territory, avoid the quicksand along the banks and find ways for getting through the river's "rapids". Their experience may benefit only one single family, or the whole group.
The Freeman-Sheldon Parents' Support Group had the experience of being able to connect a child from Ireland (where the needed plastic surgery expertise was unavailable) with an experienced plastic surgeon at a U.S university. The family negotiated a package cost for all subsequent hospital care at that institution, when went back to Ireland to carry out fund-raising. Without the aid of that parent support group, the impediments to this child's surgical care may have been insurmountable.
Advocacy can be motivated in part by self-interests. After being turned down by all life insurance carriers simply because underwriters were unfamiliar with the condition, a member of that same parent support group was able to convince one life insurance carrier to investigate rather than automatically rejecting the insurance application. As a result of actuarial analysis, that company then offered standard-risk life insurance policies to all children with that condition. No longer must the physical handicap automatically condemn a child with Freeman-Sheldon Syndrome to an undeserved financial impediment.
- Pushing back the frontiers
Support groups create a cohort of subjects which may be unequaled for medical research into the biological basis and treatment for that genetic condition. The natural history of the condition, its effect on child development, the frequency of associated conditions, and the experience with specific therapies can all be explored within the context of the support group cohort.
A well-developed internal organization is one of the most important benefits of carrying on medical research with the help of a support group. The leadership of the organization can be a highly motivated and effective recruiter of study subjects.
Rare conditions demand that there be creativity on the parts of both the medical providers and the medical recipients. Parent support groups can be experts in dealing with daily life. They can enhance the experience of their treating physicians and be powerful advocates in society. Parent support groups can help develop the partnership between the families and their medical providers, to the mutual benefit of each.
Using Parent Support Groups
by Andrea Gainey and Gina Prochazka-Graf (Genetic Counselors)
and Betsy Trombino (Pilot Parents)
The birth of a new child opens a new chapter for the family. The hopes and expectations of the parents, sibling(s) and extended family are focused on the new child. When that child has a disability, the parents must begin to cope with the loss of the "perfect child". Family expectations are shaken. They must become acquainted with a different person than they expected. Many families voice a feeling of being alone.
At a time such as this, the family may turn to their health care provider for information and guidance. In addition, parents turn to family and friends. In normal circumstances, parents with children of similar ages seem to gravitate toward each other so that they may share information. In the same fashion, parents of children with similar disabilities also need to turn to other families who are experiencing or have experienced similar situations.
Parent support groups empower families by providing knowledge so that they don't feel as alone. They enable families to cope more effectively with a disability in a supportive and sharing environment. Most support groups also seek to raise the consciousness of the community about the nature of a specific condition or disease. They can generate public awareness and social change by establishing and active, visible advocacy role. They offer an arena for mutual support, communication, social action, and opportunities for education. Within a support group, members are peers, leveled by a similar experience.
Although professional staff may be utilized by support groups, the decisions concerning policy and procedures are usually determined by group members. Support groups can select and stress their own priorities. Some groups provide newsletters which cover medical information, social updates and group business. Some even offer a pen pal service for siblings.
Some local chapters have the added dimension of affiliation with National societies or foundations or with organizations that emphasize public education, fund raising, legislative lobbying, and research. All have medical advisors who are often leading researchers in the field. With this close tie to the medical community, new information can be quickly disseminated to the at risk group. The membership also provides an excellent research base.
For families who have a child with a developmental, functional or structural abnormality, finding other parents in the same situation can be quite difficult. Many of these conditions are rare. The health care provider may not know of another family for parent-to parent contact. Support groups can play this vital role. Many of these families experience high stress which can be ameliorated by the support, experiences, and skills of others who are coping with a similar situation.
Referral to a support group must be done with patience and compassion. Timing can be of great significance. Different people cope with problems differently and at different times. It is also not uncommon to see the two parents of the same child coping very differently. One parent may find such a group helpful while another may not.
Joining a support group is a major step because it means the family is acknowledging that the problem exists. It also acknowledges the family's need to reach out for help. For some families this is catharsis, while for others it is overwhelming and intimidating. At times of crisis, some individuals seek out family and friends. This is where a support group can supplement their circle of help. Groups can also be helpful at different times during a person's life, especially during times of change, such as the time of diagnosis, around the time a child is to enter school, and at young adulthood.
However, regardless of where they are emotionally in their coping process, it is important to inform families about support groups, if only by briefly mentioning them at first. A family who is initially not interested may, at a future visit to your office, remember your suggestion and request further information. Some families are ready to join these groups within weeks of diagnosis, while for others it could take years. Providing the family with a copy of the support group's newsletter to read when they are ready can be helpful.
Parent support groups for rare disorders can provide a myriad of benefits for families. These groups allow families to feel that they are part of a group. Give them hope by keeping them abreast of current medical research and they become connected with others who are in the same situation. The National Organization for Rare Disorders (NORD) is an excellent resource. NORD can provide information about the availability of support groups and contact information. Another valuable source of information regarding support is the Alliance of Genetic Support Groups. The genetics service providers in your area will also have support group information.
Parent groups are not a panacea, but they can serve as an important health promotion resource. Support groups are a needed supplement to professional services and family support, not a replacement of professional services. They also serve to increase community linkage. Through better understanding of parent groups and their advantages, health care providers can support these resources to the benefit of their patients and the community.
Genetic Support Groups: Professional Viewpoint
by John C. Carey, M.D. Medical Geneticist
The last two decades have witnessed a marked growth in the number and diversity of self-help and support groups for families with persons with disabilities. In particular, there has been a striking emergence of support groups for genetic disorders. Genetics practitioners have come to routinely make a referral to a genetic support group in their care and management of a family.
A coalition of many of the genetic self-help groups, the Alliance, was established in 1986 with the help of a federal grant (Weiss, 1986). What is the significance and meaning of this growth? Does this reflect an inadequacy of the professional community in providing services? Are these groups effective in helping the families who participate? Or do they in fact, promote an "antiprofessionalism?"
Should practitioners routinely provide the option of "referral" to such groups? How do we as professionals know about the training or knowledge base of such peer counselors? All of these questions are extremely relevant when the practitioner examines the central issues surrounding this potential resource.
There exists a body of literature about self-help groups in general and their role in helping families cope with crisis, much of which is not easily available to the medical practitioner. Lock, in an interesting paper in the British Medical Journal, reviewed the topic of self-help groups and argued that they represent a worthwhile and significant supplementation to the care of families in crisis (1986). The author did formulate a definition:
"A self-help group is a voluntary organization usually of peers who have come together for mutual help and support in satisfying a common need, overcoming a common handicap or life disrupting problem, and bringing about desired or social change, or both" (Lock, 1986).
In their comprehensive review of the literature up to the early 1980's, Lieberman and Borman defined self-help groups as ones that share a common "condition or situation, system, or experience" (Lieberman, 1979). The important concepts here, then, are the notions of the group, the mutual support, and the centering around a specific theme.
Volunteer groups of this sort are classified by Lieberman, et al. into two general categories:(1) groups that are primarily involved with self-help or mutual aid as described above, and (2) the volunteer organizations whose primary goal is fund raising. Some groups such as Alcoholics Anonymous have provided their mutual aid in a therapeutic way, i.e. the change of behavior. Most genetic support groups have sought to provide accurate information and psycho-emotional support. Clearly the common bond theme emerges here and is consistantly mentioned throughout the literature on this topic. Some groups have created national networks of support groups including the Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) and the Prader-Willi Syndrome Association.
Some groups have attempted to provide both support and fund raising. For example, most states in the U.S. have a chapter of the National Neurofibromatosis Foundation where families provide support for the care of affected individuals while at the same time three to four hundred thousand dollars a year are raised for individual research grants. The Muscular Dystrophy Association is unique in that here is local support as well as the provision of direct medical care through the "MDA clinics;" in addition, the MDA has been extremely successful in raising funds for basic science research on muscle disease. Thus many of the groups cross into both categories of self-help, i.e. mutual aid and fund raising, and they vary in their emphasis on each.
There are a number of other consistent themes that emerge in this body of literature. As is well known, the diagnosis of a disability, chronic illness, or genetic disorder brings about a complex reaction that is often a crisis. The coping process is often similar to what occurs in the experience of loss in the death of a loved one in uncommon conditions like genetic ones, the crisis is compounded by the rarity of the disorder, often leaving families with the sense of isolation or the "being the only one in the world."
The self-help group provides the community, i.e. a common bond, a rally point around the plight. The problem is often the complexity of the condition, lack of information, even the uncertainty of the disorder, and sometimes access to information. The group gives the sense of "the fellow suffering traveler" (Black and Weiss, 1988). There is probably something that another person with a condition provides in the helping process that a professional just cannot provide.
Thus, these groups are a supplement to conventional medical care rather than a replacement or a sign in inadequacy. In fact, Lieberman points out that families who participate in self-help groups do utilize conventional medical care, and are not the nonparticipants. Families that take part in such groups sometimes become "experts" in information about the condition, especially new developments in research. While potential conflict with the primary care practitioner could arise, an open mind on the professionals' part and the recognition of what the professional has to offer usually resolves it.
Another consistent theme is the notion of a group performing a cognitive restructuring. It provides a new perspective for the family, an ideology that develops around the mutual aid or common theme. Another theme is the observation that the family that is participating in a support group provides a role model for the family that is presently going through the crisis. There is an implicit and clear message of "this person is coping so maybe I will too." There is also benefit that comes to the peer counselor from this interaction.
Self-help groups are not for all families. Some people respond quite well to them, while others choose not to attend. Referral to such groups in these types of crisis should always be offered; the choice of participating, of course, belongs to the family.
As Black and Weiss have pointed out, the provision of information represents another important goal of all such groups (1988). These authors surveyed a number of genetic support groups and documented that genetic counseling is still desired by most participants in such groups. Black and Weiss also discussed the idea of a "partnership" of professionals and support groups. Partnership, I feel, is the term that captures this whole issue.
In regards to effectiveness of self-help groups, Minde did a controlled study of parents of children in an intensive care nursery (1980). The study group participated in discussions led by a nurse facilitator and an experienced parent, while the control group had no such intervention. The study group parents did better on such parameters as numbers of visits and contacts with a baby. On follow-up, the control group had 2 of 29 families referred for child protection issues while none in the study group had such referrals. This study presented preliminary evidence that the support group helped families cope and produce better outcomes. More studies of this nature with a larger number of matched controls and well documented outcomes are needed.
Training of peers for their role in self-help groups is a complex issue and will not be discussed here, and genetic support groups do vary in the availability of training to the participating members. I would also argue, however, that the common bond or experience mentioned above provides some training in and of itself. The role model concept suggests that there is a subtle message that goes beyond the individual who is doing the helping. However, there are occasions then peer counselors are not appropriate and perhaps even dispense inaccurate or inappropriate information. Thus, it is important for the practitioner to have some knowledge of the organization before referring to it.
Lastly, a discussion of fund raising goals (often for research) and the politics of the group is appropriate. All the groups vary in how much they perform these activities. Black and Weiss document that about 30% of genetic support groups responding to a questionnaire raise funds and involve themselves in research activities. As an example, the National Neurofibromatosis Foundation as well as many of the local groups played a significant role in family participation and the collection of kindreds necessary to map the gene for this condition and then clone it. This exemplifies the notion of partnership between professionals and genetic support groups.
In summary, I have come to the conclusion as a pediatrician and genetics practitioner that genetic support groups are an important resource for families coping with crisis. As a part of my health maintenance guidelines and anticipatory guidance in children with genetic disorders, I include the option of referral to a self-help group. Although more research is needed into the effectiveness of these groups and the characteristics that makes them work effectively, the available literature documents many examples of case studies and questionnaire surveys indicating satisfaction and help.
References
Black RB, Weiss JO (1988): A Professional Partnership with Genetic Support Groups. American Journal of Medical Genetics 29:21-33.
Lieberman MA, Borman LD (1979): Self-Help Groups for Coping with Crisis. Jossey-Bass Inc., San Fransisco.
Lock S (1986): Self Help Groups: the Fourth Estate in Medicine. British Medical Journal 293:20-27.
Minde K, et al.(1980): Self-help Groups in the Premature Nursery - a Controlled Evaluation. Journal of Pediatrics 96:333-340
Weiss JO, et al. 91986): Genetic Support Groups: Volunteers and Professionals as Partners. Birth Defects 22(2):1-182
Connecting with Support Groups: Suggestions for a Primary Physician
by Carol Greene, M.D
Medical Geneticist
- Offer the information that a support group exists. Let the family know that every family has different needs at different times; and may or may not feel that contacting a support group is right for them.
- Before a family contacts a support group, be sure they know that every family is different. They will meet families with more and less severe problems, with different experiences, different goals and different values. Information and advice appropriate for one family maybe wrong for another. Beware that each support group has a "personality" and purpose.
- Encourage the family to discuss their experience with you and be prepared to answer questions that the family brings back to you. Be ready to learn new information and consider how it applies to your patient and family.
The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Genetics Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131
Consumer Issues in Genetics Services
Table of Contents
Parent Support Organizations for Genetic Disorders
Parents Perspectives
Barriers to Effective Genetics Services
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