FAMILY SUPPORT
Family Reactions, Physician Responses, and Management Issues in Fatal Lipid Storage Diseases
G. Schneiderman, M.D.,
F.R.C.P.(C),* J.
A. Lowden, M.D., Ph.D.,**
Q. Rae-Grant, M.D.,
DEATH
OF A YOUNG CHILD repreemotional crisis and stress not only for families,’ but also for physicians since our training has tended to emphasize performance and cures. It is necessary for every physician to face these painful feelings of frustration and learn to tolerate them. As part of this he must face the reality of his own mortality and deal with his own feelings toward death.~ Not until then will he be able to truly help a family come to terms with their grief, guilt, and mourning, and to aid in the care of the child and in appropriate decisions. These lessons were clearly brought out in an earlier study, when we examined the effects of the ganglioside storage diseases on family functions.~ We found (not unexpectedly) that
sents an
* Staff Psychiatrist. Hospital for Sick Children, Assistant Professor in Psychiatry, University of Toronto, Toronto. Ontario. ** Associate Scientist in the Research Institute, Hospital for Sick Children, Toronto, Ontario. &dag er; Psychiatrist-in-Chief, Hospital for Sick Children, Professor of Psychiatry, University of Toronto. A modified version of this paper was presented at the Canadian Pediatric Society Annual Meeting, St. John’s, Newfoundland, August 1974. Correspondence to G. Schneiderman, M.D., Assistant Professor, Department of Psychiatry, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8.
F.R.C.P.(C),†
support system with the physician as a key person is crucial to the family during such a difficult crisis. We have found it convenient to separate the families into three broad groups: the emotionally healthy, the moderately disturbed, and the poorly adjusted. a
The
Emotionally Healthy Family
In these, the father and mother have mutual respect, support and affection, communicate well with each other, are able to resolve differences contructively, and have a set of commonly shared goals toward which they work as a team. This ability to face issues and to support each other in difficult times enables them to sustain each other in face of loss. The external support from extended family members, although helpful, is secondary to their own capacities to make appropriate adaptations to the loss of the child. Case #1 Mr. and Mars. ‘’A&dquo; discovered that their first son had Tay-Sachs disease at seven months. When faced with the diagnosis, both parents became very depressed, but were able to provide mutual support. The father had had a good relationship with his mother and, after working through a
887
Downloaded from cpj.sagepub.com at OAKLAND UNIV on June 11, 2015
rebellious period as an adolescent, had come to respect his father. The mother had had an excellent relationship with her mother and, despite difficulties with her father, adored and respected her husband. Before the illness, these parents were looking forward to having a family. Once the diagnosis and its implications were understood, they felt that because the infant was going to die at a young age, he deserved the best they could do for him. They gave him a great deal of care, and were able throughout to express to each other their feelings of anger, hopelessness, and guilt without condemning each other, and to maintain their feelings of mutual respect. Subsequently, they adopted a child. After the advent of amniocentesis that permitted the prenatal determination of amniotic hexosaminidase levels, the mother let herself become pregnant. In the first trimester, the level of hexosaminidase was normal, ruling out Tay-Sachs disease in which the level is greatly reduced. The same sequence was repeated in a second pregnancy, and the couple now have two normal children of their own. Although their family and friends were helpful during the crisis, both parents felt that their relationship with each other was the sustaining force that saw them through this period.
A filmed intervieW4 with such a family has prepared and shown to groups of physi-
been
cians, residents in training, and allied health
professionals to illustrate how the emotionally healthy family goes through the process of adapting to the loss of a child from Tay-Sachs disease. The
Moderately
Disturbed
Family
These families generally do not have major difficulties in everyday functioning. But they have no strong sense of a cohesive family unit and mutuality of respect. Issues and difficulties, rather than being resolved, tend to be avoided and ignored. Crises tend to highlight and bring to the surface areas of contention and difference. Greater support is needed for such a family with fewer healthy emotional resources, from extended family and friends in order to aid the parents individually and
weeks. The subject of the child’s illness discussed. When the anxiety level became intolerable, Mrs. &dquo;B&dquo; turned for help to her mother and sister. They came to her aid through allowing her to ventilate her feelings and by providing assistance in the care of the hcild. The father maintained his style of avoiding direct discussion and of sharing intimate personal feelings with his wife. The family balance was established on this for
two
was not
basis, and
no
major disruption
in the
marriage
occurred.
The
Poorly Adjusted Family
In these families, the relationship between the parents is already precarious. They have few common satisfactions. Rather than sharing responsibility, they tend to blame each other for events that happen, with periodic threats or episodes of separation. In addition, they do not usually have available, or are unwilling to utilize, the help their own families might provide. They have few close personal friends to whom they can turn. A slowly dying child adds more difficulty to this poorly integrated and functioning family unit, and leads to further disintegration in the functioning and coping skills available to them. Case #3
When Mr. and Mrs. &dquo;C&dquo; realized their son was to die, the home situation rapidly deteriorated. Each parent blamed the other for the child’s illness, and the mother went into a clinical depression. The father’s reaction was to be annoyed, irritated, and intolerant; when his wife tried to communicate with him he either attacked her verbally or left the house. This father had already been rejected by his parents as the &dquo;bad seed.&dquo; The mother, who had had an unhappy childhood, was further alienated from her family when she married a man of whom they disapproved. The parents’ social relationships were poor. Thus, there were few personal, parental, or social resources available to them to call upon for help with their interpersonal difficulties, now aggravated by the crisis situation of their dying child.
going
Family
Reaction Phases
together.
There are a number of issues in the disease process that represent critical points for the
Case #2
family.
When Mr. and Mrs. &dquo;B&dquo; discovered their sixmonth-old child had Tay-Sachs disease, they were unable, beyond superficialities, to talk to each other
I. The reaction to the diagnosis is the first and probably the most wrenching phase as the parents react with shock, anger, and grief as
888
Downloaded from cpj.sagepub.com at OAKLAND UNIV on June 11, 2015
they all do. Much that is said may not be heard, and what is heard may be misinterpreted. Time is required for them to accept the finality of the diagnosis. Hence, whenever feasible, the physician should arrange to see the parents again the day after he has imparted the diagnosis, in order to review with them what was said, to answer the inevitable questions, and to help them to absorb the impact and the implications of the information. And thereafter he should keep up regular contact with the parents as they begin to mourn for the future loss of their child. Psychiatric consultation may be useful to the family at this point to help them accept the physician’s findings and to prevent a futile search for a miraculous solution. The reaction to the diagnosis is the first and probably the most wrenching phase as the parents react with shock, anger, and
grief ...
’
The physician’s assessment of the family’s emotional health is crucial in this early phase. A well-adjusted family will need less time and briefer support. A moderately disturbed family will need continuing support from the physician and from the extended family and friends. A poorly adjusted family will need extended assistance. They should be guided to social and counseling agencies to supplement what the physician can provide and to act as a substitute for the extended family and other social supports. These poorly adjusted families have the greatest need for this kind of support, yet often have the
greatest difficulty in seeking and accepting it. They are often resistant to accepting the impending loss and may be the most likely to search for a magic solution. 2. The second critical point for the family occurs around the question of placement versus home care. As the child’s inevitable deterioration progresses, this places increasing burdens on the family. They then are faced with the choice of keeping the child at home or placing him in an institution. Our observations have shown that those families with no other children tend to
other siblings, home care in the final stage does not seem advisable. The physician can assess the individual situation, help the family make an appropriate decision, and aid them in arranging for institutionalization when indicated. 3. The third crucial point for the family concerns f’uture~amily ~lc~nning.’ In our studies of this aspect, we interviewed 24 sets of
parents. In 15 of these, the firstborn child was affected. Three sets of parents decided to adopt before attempting to conceive again. In one of these, the couple decided to have no more pregnancies, as the husband had two children from his first marriage. Another, after the introduction of amniocentesis, had two normal children. The third couple, after adopting, although amniocentesis was available, had just lost a fetus affected with TaySachs disease. Of the twelve couples who did not immediately adopt, five produced normal children and seven had genetically damaged children in the second pregnancy. Of these seven remaining couples, four have had a normal child (in the third pregnancy for each), one has adopted; one is in the process of adopting a child; and one has decided to have no more children. In seven families, the affected child was the secondborn. Of these, two have gone on to have normal children. Two are attempting to conceive. One has had a normal child after
aborted an intermediate pregnancy caused by a Tay-Sachs fetus. One has decided to have no more children. One has delayed decision until their affected child dies. The two families in which the affected children were thirdborn have decided to have no more children.
having
Family Planning Considerations In general, then, parents whose first child has been affected tend to want to have another child. The mother, upon recovering from the mourning and depression, wants to become pregnant again. The father, injured by the blow to his masculinity and self-esteem, is also desirous for his wife to become pregnant again. However, should this second pregnancy produce another genetically damaged
889
Downloaded from cpj.sagepub.com at OAKLAND UNIV on June 11, 2015
child, the husband tends
to
be
more con-
cerned about his wife’s emotional and physical health rather than about his own needs and feelings. He leaves it to his wife to make the decision about a third pregnancy. Some women find it difficult to tolerate the possibility of a third loss, whether from therapeutic
early childhood death. For these parents, adoption can be a healthy adaptive
abortion
or
alternative. With the family whose secondborn child is affected, their healthy child reassures them about their capacity to produce normal children and helps to reduce the depression. When the third child is the one affected, parents are likely not to have further children. From interview, it is clear that parents are able to consider the issue of future family planning only after they have accepted within themselves the loss of the child. While they are in mourning, discussion of further children is probably premature.
saddened
the screening results, they are have grateful acquired this knowledge without having had a Tay-Sachs child. They have decided to attempt natural pregnancy and undergo amniocentesis studies early in the pregnancy. Final Comments We believe that the physician should encourage couples in childbearing years to undergo Tay-Sachs testing. Should a couple be found who both are carriers, they benefit from knowing what they may have to face, and of being able to consider the protection of amniocentesis. The testing itself does not give rise to lasting psychologic effects. We believe further that the physician must play a key role in helping families with fatal
genetic
Program
Kerstein,
Help for the young physician grieving. Surg. Gynecol. Obstet.
M. D.:
death and
with 137:
479, 1973. 2.
part of our continuing studies, we interviewed, after approximately one year, 811 families who participated in a Tay-Sachs screening program. In 40 families, one spouse proved to be a carrier; in 40 families neither was a carrier; in one, both proved to be carriers. Our data thus far indicate that most couples are eager to but also anxious about undergoing testing, and relieved when the results are negative. In the year between testing and follow-up, we found no evidence that the screening testing had given rise to any long-term psychologic ill effects. The couple in which both members were carriers has as yet had no children. Although As
disease.
References 1.
Does the Tay-Sachs Screening Have Any Adverse Effects?
by
to
Jacques, E.: Death and the mid-life crisis. In Interpretation of Death, Ruitenbeek, H., Ed.
The New York, Jason Aronson, Inc., 1973, pp. 140-65. 3. Schneiderman, G., Lowden, J. A., and Rae-Grant, Q.: Tay-Sachs and related lipid storage diseases: a study of Families. Can. Psychiatr. Assoc, J. 18: 215, 1973. 4. —: Tay-Sachs Disease and the Family: An Interview with a Family Who Lost a Child due to Tay-Sachs Disease. Film produced by G. Schneiderman in conjunction with Ryerson University and The Hospital for Sick Children, Toronto, Ontario. Film available through the Libraries, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, and The Royal College of Physicians and Surgeons, 74 Stanley Street, Ontario. 5. —, Lowden, J. A., and Rae-Grant, Q.: Family Planning and the Lipid Storage Diseases. Presented at the Canadian Psychiatric Association Annual Meeting, Ottawa, Ontario, Canada,
Ottawa,
October, 1974.
890
Downloaded from cpj.sagepub.com at OAKLAND UNIV on June 11, 2015
Family Reactions, Physician Responses, and Management Issues in Fatal Lipid Storage Diseases
G. Schneiderman, M.D.,
F.R.C.P.(C),* J.
A. Lowden, M.D., Ph.D.,**
Q. Rae-Grant, M.D.,
DEATH
OF A YOUNG CHILD repreemotional crisis and stress not only for families,’ but also for physicians since our training has tended to emphasize performance and cures. It is necessary for every physician to face these painful feelings of frustration and learn to tolerate them. As part of this he must face the reality of his own mortality and deal with his own feelings toward death.~ Not until then will he be able to truly help a family come to terms with their grief, guilt, and mourning, and to aid in the care of the child and in appropriate decisions. These lessons were clearly brought out in an earlier study, when we examined the effects of the ganglioside storage diseases on family functions.~ We found (not unexpectedly) that
sents an
* Staff Psychiatrist. Hospital for Sick Children, Assistant Professor in Psychiatry, University of Toronto, Toronto. Ontario. ** Associate Scientist in the Research Institute, Hospital for Sick Children, Toronto, Ontario. &dag er; Psychiatrist-in-Chief, Hospital for Sick Children, Professor of Psychiatry, University of Toronto. A modified version of this paper was presented at the Canadian Pediatric Society Annual Meeting, St. John’s, Newfoundland, August 1974. Correspondence to G. Schneiderman, M.D., Assistant Professor, Department of Psychiatry, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8.
F.R.C.P.(C),†
support system with the physician as a key person is crucial to the family during such a difficult crisis. We have found it convenient to separate the families into three broad groups: the emotionally healthy, the moderately disturbed, and the poorly adjusted. a
The
Emotionally Healthy Family
In these, the father and mother have mutual respect, support and affection, communicate well with each other, are able to resolve differences contructively, and have a set of commonly shared goals toward which they work as a team. This ability to face issues and to support each other in difficult times enables them to sustain each other in face of loss. The external support from extended family members, although helpful, is secondary to their own capacities to make appropriate adaptations to the loss of the child. Case #1 Mr. and Mars. ‘’A&dquo; discovered that their first son had Tay-Sachs disease at seven months. When faced with the diagnosis, both parents became very depressed, but were able to provide mutual support. The father had had a good relationship with his mother and, after working through a
887
Downloaded from cpj.sagepub.com at OAKLAND UNIV on June 11, 2015
rebellious period as an adolescent, had come to respect his father. The mother had had an excellent relationship with her mother and, despite difficulties with her father, adored and respected her husband. Before the illness, these parents were looking forward to having a family. Once the diagnosis and its implications were understood, they felt that because the infant was going to die at a young age, he deserved the best they could do for him. They gave him a great deal of care, and were able throughout to express to each other their feelings of anger, hopelessness, and guilt without condemning each other, and to maintain their feelings of mutual respect. Subsequently, they adopted a child. After the advent of amniocentesis that permitted the prenatal determination of amniotic hexosaminidase levels, the mother let herself become pregnant. In the first trimester, the level of hexosaminidase was normal, ruling out Tay-Sachs disease in which the level is greatly reduced. The same sequence was repeated in a second pregnancy, and the couple now have two normal children of their own. Although their family and friends were helpful during the crisis, both parents felt that their relationship with each other was the sustaining force that saw them through this period.
A filmed intervieW4 with such a family has prepared and shown to groups of physi-
been
cians, residents in training, and allied health
professionals to illustrate how the emotionally healthy family goes through the process of adapting to the loss of a child from Tay-Sachs disease. The
Moderately
Disturbed
Family
These families generally do not have major difficulties in everyday functioning. But they have no strong sense of a cohesive family unit and mutuality of respect. Issues and difficulties, rather than being resolved, tend to be avoided and ignored. Crises tend to highlight and bring to the surface areas of contention and difference. Greater support is needed for such a family with fewer healthy emotional resources, from extended family and friends in order to aid the parents individually and
weeks. The subject of the child’s illness discussed. When the anxiety level became intolerable, Mrs. &dquo;B&dquo; turned for help to her mother and sister. They came to her aid through allowing her to ventilate her feelings and by providing assistance in the care of the hcild. The father maintained his style of avoiding direct discussion and of sharing intimate personal feelings with his wife. The family balance was established on this for
two
was not
basis, and
no
major disruption
in the
marriage
occurred.
The
Poorly Adjusted Family
In these families, the relationship between the parents is already precarious. They have few common satisfactions. Rather than sharing responsibility, they tend to blame each other for events that happen, with periodic threats or episodes of separation. In addition, they do not usually have available, or are unwilling to utilize, the help their own families might provide. They have few close personal friends to whom they can turn. A slowly dying child adds more difficulty to this poorly integrated and functioning family unit, and leads to further disintegration in the functioning and coping skills available to them. Case #3
When Mr. and Mrs. &dquo;C&dquo; realized their son was to die, the home situation rapidly deteriorated. Each parent blamed the other for the child’s illness, and the mother went into a clinical depression. The father’s reaction was to be annoyed, irritated, and intolerant; when his wife tried to communicate with him he either attacked her verbally or left the house. This father had already been rejected by his parents as the &dquo;bad seed.&dquo; The mother, who had had an unhappy childhood, was further alienated from her family when she married a man of whom they disapproved. The parents’ social relationships were poor. Thus, there were few personal, parental, or social resources available to them to call upon for help with their interpersonal difficulties, now aggravated by the crisis situation of their dying child.
going
Family
Reaction Phases
together.
There are a number of issues in the disease process that represent critical points for the
Case #2
family.
When Mr. and Mrs. &dquo;B&dquo; discovered their sixmonth-old child had Tay-Sachs disease, they were unable, beyond superficialities, to talk to each other
I. The reaction to the diagnosis is the first and probably the most wrenching phase as the parents react with shock, anger, and grief as
888
Downloaded from cpj.sagepub.com at OAKLAND UNIV on June 11, 2015
they all do. Much that is said may not be heard, and what is heard may be misinterpreted. Time is required for them to accept the finality of the diagnosis. Hence, whenever feasible, the physician should arrange to see the parents again the day after he has imparted the diagnosis, in order to review with them what was said, to answer the inevitable questions, and to help them to absorb the impact and the implications of the information. And thereafter he should keep up regular contact with the parents as they begin to mourn for the future loss of their child. Psychiatric consultation may be useful to the family at this point to help them accept the physician’s findings and to prevent a futile search for a miraculous solution. The reaction to the diagnosis is the first and probably the most wrenching phase as the parents react with shock, anger, and
grief ...
’
The physician’s assessment of the family’s emotional health is crucial in this early phase. A well-adjusted family will need less time and briefer support. A moderately disturbed family will need continuing support from the physician and from the extended family and friends. A poorly adjusted family will need extended assistance. They should be guided to social and counseling agencies to supplement what the physician can provide and to act as a substitute for the extended family and other social supports. These poorly adjusted families have the greatest need for this kind of support, yet often have the
greatest difficulty in seeking and accepting it. They are often resistant to accepting the impending loss and may be the most likely to search for a magic solution. 2. The second critical point for the family occurs around the question of placement versus home care. As the child’s inevitable deterioration progresses, this places increasing burdens on the family. They then are faced with the choice of keeping the child at home or placing him in an institution. Our observations have shown that those families with no other children tend to
other siblings, home care in the final stage does not seem advisable. The physician can assess the individual situation, help the family make an appropriate decision, and aid them in arranging for institutionalization when indicated. 3. The third crucial point for the family concerns f’uture~amily ~lc~nning.’ In our studies of this aspect, we interviewed 24 sets of
parents. In 15 of these, the firstborn child was affected. Three sets of parents decided to adopt before attempting to conceive again. In one of these, the couple decided to have no more pregnancies, as the husband had two children from his first marriage. Another, after the introduction of amniocentesis, had two normal children. The third couple, after adopting, although amniocentesis was available, had just lost a fetus affected with TaySachs disease. Of the twelve couples who did not immediately adopt, five produced normal children and seven had genetically damaged children in the second pregnancy. Of these seven remaining couples, four have had a normal child (in the third pregnancy for each), one has adopted; one is in the process of adopting a child; and one has decided to have no more children. In seven families, the affected child was the secondborn. Of these, two have gone on to have normal children. Two are attempting to conceive. One has had a normal child after
aborted an intermediate pregnancy caused by a Tay-Sachs fetus. One has decided to have no more children. One has delayed decision until their affected child dies. The two families in which the affected children were thirdborn have decided to have no more children.
having
Family Planning Considerations In general, then, parents whose first child has been affected tend to want to have another child. The mother, upon recovering from the mourning and depression, wants to become pregnant again. The father, injured by the blow to his masculinity and self-esteem, is also desirous for his wife to become pregnant again. However, should this second pregnancy produce another genetically damaged
889
Downloaded from cpj.sagepub.com at OAKLAND UNIV on June 11, 2015
child, the husband tends
to
be
more con-
cerned about his wife’s emotional and physical health rather than about his own needs and feelings. He leaves it to his wife to make the decision about a third pregnancy. Some women find it difficult to tolerate the possibility of a third loss, whether from therapeutic
early childhood death. For these parents, adoption can be a healthy adaptive
abortion
or
alternative. With the family whose secondborn child is affected, their healthy child reassures them about their capacity to produce normal children and helps to reduce the depression. When the third child is the one affected, parents are likely not to have further children. From interview, it is clear that parents are able to consider the issue of future family planning only after they have accepted within themselves the loss of the child. While they are in mourning, discussion of further children is probably premature.
saddened
the screening results, they are have grateful acquired this knowledge without having had a Tay-Sachs child. They have decided to attempt natural pregnancy and undergo amniocentesis studies early in the pregnancy. Final Comments We believe that the physician should encourage couples in childbearing years to undergo Tay-Sachs testing. Should a couple be found who both are carriers, they benefit from knowing what they may have to face, and of being able to consider the protection of amniocentesis. The testing itself does not give rise to lasting psychologic effects. We believe further that the physician must play a key role in helping families with fatal
genetic
Program
Kerstein,
Help for the young physician grieving. Surg. Gynecol. Obstet.
M. D.:
death and
with 137:
479, 1973. 2.
part of our continuing studies, we interviewed, after approximately one year, 811 families who participated in a Tay-Sachs screening program. In 40 families, one spouse proved to be a carrier; in 40 families neither was a carrier; in one, both proved to be carriers. Our data thus far indicate that most couples are eager to but also anxious about undergoing testing, and relieved when the results are negative. In the year between testing and follow-up, we found no evidence that the screening testing had given rise to any long-term psychologic ill effects. The couple in which both members were carriers has as yet had no children. Although As
disease.
References 1.
Does the Tay-Sachs Screening Have Any Adverse Effects?
by
to
Jacques, E.: Death and the mid-life crisis. In Interpretation of Death, Ruitenbeek, H., Ed.
The New York, Jason Aronson, Inc., 1973, pp. 140-65. 3. Schneiderman, G., Lowden, J. A., and Rae-Grant, Q.: Tay-Sachs and related lipid storage diseases: a study of Families. Can. Psychiatr. Assoc, J. 18: 215, 1973. 4. —: Tay-Sachs Disease and the Family: An Interview with a Family Who Lost a Child due to Tay-Sachs Disease. Film produced by G. Schneiderman in conjunction with Ryerson University and The Hospital for Sick Children, Toronto, Ontario. Film available through the Libraries, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, and The Royal College of Physicians and Surgeons, 74 Stanley Street, Ontario. 5. —, Lowden, J. A., and Rae-Grant, Q.: Family Planning and the Lipid Storage Diseases. Presented at the Canadian Psychiatric Association Annual Meeting, Ottawa, Ontario, Canada,
Ottawa,
October, 1974.
890
Downloaded from cpj.sagepub.com at OAKLAND UNIV on June 11, 2015
