Rare Disorder Groups are Vital to Physicians
The Importance to Physicians of Support Groups for Rare Conditions
The Genetic Drift Vol. 8: Winter, 1992
Consumer Issues in Genetics Services
by Jack Dolcourt, M.D. Neonatologist
Support groups have traditionally helped fill the void between the medical system and the daily grind of the everyday world. Support groups generally function to help patients cope, but clearly support groups do more than make patients feel good. Like any special interest group, they can serve as educators for new patients 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 diagnosis of a genetic condition can be devastating. After patients are suddenly faced with medical decisions, they usually want to know how this condition will affect their future. Physicians are experts when it comes to the pathophysiology of the illness, inheritance patterns, options in intervention, and the technical aspects of surgical procedures.
Support groups can be the expert which helps deal with practicalities of daily life, as well as to help navigate the increasingly complex medical system. In the process, patients and 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. "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.
Support groups have the ability to enhance expertise by guiding cases to specific physicians, thereby broadening the experience of these "experts". Support groups create larger cohorts. With that may come the recognition of new facets of the condition. Seemingly isolated events may become recognized as 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-susceptible individuals. Only through developing a large enough cohort is it possible to recognize important recurrent problems.
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 disorder. The natural history of the condition, 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. 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. Support groups can help develop the partnership between the patients and their medical providers, to the mutual benefit of each.
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 consistently 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 when 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. as of such peer counselors? All of these questions are extremely relevant when the practitioner examines the central issues surrounding this potential resource.
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. Brit Med Jnl 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
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 Regional Genetic Services Network. For addlitional information, contact Carol Clericuzio, M.D., Editor, Dept of Pediatrics, The Univ. of New Mexico, Albuquerque, NM, 87131