Review Article The Chronically III
Child and Family Stress Family Developmental Perspectives on Cystic Fibrosis D. CARTER, PH.D. JON R. UREY, PH.D. NEMR S. EID, M.D.
BRYAN
The authors take a dl'l'elopmemal and family systems perspectil'e in rl'l'iewing research Of/ the family stressor,\' inherent in caring for a child with a chronic di.H'ase. Cystic fihrosis. a genetically transmitted and life-shortening disorder. exemplifies a chronic disease that places demands on the family that are hoth unique and shared with other prolonged illnesses. The authors chronicle the interaction of the dehilitating features of this disease and its demanding treatmem regimen with family dynamics from the point of initial diagnosis to the terminal stages.
I
t is well documented that caring for a child with a chronic illness or disability places extraordinary stress on the family system.1.2 Cystic fibrosis (CF) is such a disorder. The impact and course of childhood chronic illness is seldom static. and it changes as a function of advances in medical technology. Survival rates for various forms of childhood cancer. for example. have improved dramatically over the past few decades.' We are beginning to understand the effects of the many stresses and demands this places on the family system. Families of children with CF are confronted with the many difficulties associated with most chronic illnesses. They must also face a number of unique demands associated with this disorder. This article adopts a developmental and family systems perspective in examining the factors that influence the adjustment of families of children with CF, a viewpoint that is felt to be particularly useful in consulting with a variety of chronic pediatric conditions. VOLUME 33· NUMBER.t· FALL 1992
CYSTIC FIBROSIS AS A CHRONIC ILLNESS CF is the most common genetic disorder among Caucasians. affecting I in 2.000 live births;~ it affects all other racial groups to a lesser degree. CF is inherited in a classic. single-gene autosomal recessive manner.' CF involves nearly all mucus-secreting organs of the body. and the clinical manifestations are caused by obstruction of these organs' passageways by thick mucus. In the lungs. this process leads to progressive recurrent pneumonia. bronchial obstruction. and ultimately chronic respiratory Received Novemher 6. 1990; revised April 22. 1991; accepted May I. 1991. From the University of Louisville School of Medicine. Address reprint requests 10 Dr. Carter. Division of Child Psychiatry. Dept. ofPsychialry and Behav. ioral Sciences. University of Louisville School of Medicine. 200 E. Cheslnut St.. Louisville. KY 40202. Copyright © 1992 The Academy of Psychosomatic Medicine.
.N7
Family Development and Cystic Fibrosis
failure. In the pancreas, exocrine pancreatic insufficiency is observed in over 85% of patients, which can lead to malabsorption and malnutrition. Biliary cirrhosis occurs in 5% of patients, and obstruction in the reproductive system leads to sterility in almost all males and in 80% of females. 6 .7 CF has been considered primarily a childhood disorder; however, many patients are surviving into late adolescence and young adulthood. Approximately 50% of CF patients now survive to their late 20s because of better understanding of the disease; newer, more potent antibiotics; and progress in nutritional support. Management ofCF usually involves an extensive daily regimen that consists of chest physiotherapy, various inhalant medications, pancreatic enzymes, vitamins, supplemental diets, and other medications (i.e., antibiotics and bronchodilators). Some of these procedures are uncomfortable and time-consuming, may have a negative influence on the parent-child relationship, and may prove stressful to normal psychological development. As the disease progresses,there may be increasingly frequent hospitalizations due to exacerbations of pulmonary or digestive complications. This places additional demands on the child and family. The identification of the CF genex,~ has allowed new approaches to understanding the basic defect of this disease and is leading to the development of novel modalities of treatment. Some exciting current research has led to correction of the CF defect in vitro by a retrovirusmediated gene transfer,lll which involves inserting the correct gene with a modified vaccinia virus. J J Future research will address the feasibility of transferring the normal CF gene, with appropriate controlling elements, directly into the respiratory tract. J ~ Although there is intense international interest in finding a cure for CF, current treatment unfortunately continues to address only the complications and symptoms. The natural course of this illness involves progressive lung disease and premature death in almost 95% of patients. J.\ In conceptualizing the stressful effects on the family of a child with CF, there is great value .Wl!
in considering developmental issues. J4-IX The family's adjustment to having a child with CF varies considerably depending on many factors, such as frequency of exacerbations, degree of physical restriction, family composition, and support network. A discussion about family adjustment in relation to four developmental periods follows. INFANCY AND EARLY CHILDHOOD: IMPACT OF DIAGNOSIS AND FAMILY ACCOMMODATION The majority of children diagnosed with CF are identified within the first 2 years of life, although some cases go undetected until later childhood or even adolescence. Among 194 CF patients seen at the Johns Hopkins Hospital from 197 I to 1981, 58% were diagnosed in the first year of life, 87% by age 5 years, and 94% by age 10 years. I" At the Hospital for Sick Children in Toronto, the mean age of diagnosis was approximately 6 months for patients diagnosed between 1970 and 1985. 14 Early diagnosis is highly desirable because prompt recognition. followed by intensive intervention, may be associated with improved long-term outcome.~" Early diagnosis helps reduce the frustration of diagnostic delays, minimizes dangerous therapeutic misadventures, and allows family members to receive timely genetic counseling. ~J The period surrounding the diagnosis of CF in their children may be particularly stressful for parents; almost half of them report experiencing the greatest anxiety around the time of diagnosis.~~ The primary reason for this is often their frustration in the search for an accurate assessment and difficulty in anticipating the severity of the child's condition and decreased longevity. One anticipated effect of this stress, which has long-term developmental implications, is impairment in the bonding between mother and infant. However. CF children appear to have no impairment in infant-mother attachment,~\ a finding that is at variance with previous research in other populations of children with chronic illnesses.~4 This might be due to current PSYCHOSOMATICS
Carter et al.
medical management's ability to keep many young children with CF relatively symptomfree so that their long-term prognosis is not readily apparent.~~ A unique set of dynamics may evolve around the somewhat unpleasant and time-consuming home treatments that are essential for routine prophylactic care of the child with CF (i.e., inhalation therapy, chest percussions, and many oral medications). Anecdotal observations would suggest that these procedures may contribute to parental distress and guilt at having to regularly administer therapies that may be upsetting to the very young child. The extent to which this aspect of care contributes to family stress needs empirical validation. Whereas early studies found almost universally undesirable emotional reactions to CF by affected children and their families,~h-~x more recent investigations suggest a less negative response during early development. Parents of preschool children with CF do not rank difficulties related to child care, behavioral problems, or the general level of health/pathology of their families any differently than parents of healthy preschoolers, although there is a trend for children to display a somewhat more hostileaggressive stance.l~ Parents may use minimization and denial to reduce family stress at this stage. ~~.,n These strategies may be rather adaptive as most families with a preschool child with CF are observed to have organized family activities to accommodate the special needs of their child's illness within a year after diagnosis.2~ The majority of children with CF are the firstborn." Consequently, most parents are relatively young at the time of the diagnosis. Parental awareness of the risk associated with having other affected offspring is likely to influence their decision with regard to birth control. A study of 105 randomly selected families found that when the child with CF was the firstborn and diagnosis was made prior to a subsequent pregnancy, 63% of the parents decided against having more children:" The majority were aware of the 25% risk associated with subsequent pregnancies due to the autosoVOLUME 33. NUMBER 4· FALL 1992
mal recessive inheritance pattern. The higher the parents' perception of the probability, the more important was the effect on reproductive planning. The relatively young age of these parents also is associated with limited resources, which makes expenses incurred while seeking a diagnosis and acquiring the equipment needed for home management a disproportionate burden.'~ The financial stress associated with caring for a child with CF often leads to breakdowns in communication,~x family sacrifices,~x supplementary employment to meet costly commitments," and disrupted work patterns to keep q medical appointments. Among Norwegian families, mothers were more likely to forgo educational and professional goals compared with mothers of nonaffected children, whereas fathers had no changes in their school or career patterns.'~ Other studies failed to include financial demands and other concurrent sources of stress not directly related to the illness.'h There are also suggestions that maternal employment may provide a buffering effect against the stressors inherent in raising a child with a chronic illness.'7 Implementing the time-consuming daily treatment regimen associated with CF may leave parents feeling socially isolated. Mothers of children with CF have been found to score higher on measures of introversion and depression compared with fathers, perhaps reflecting the accumulating effects of decreased social network involvement. SCHOOL AGE: SYSTEMS ADJUSTMENT TO INCREASED CHILD AUTONOMY The adjustment negotiated by the parents and the child with CF may be disrupted by the transition into school. In a study of 6- to I 1year-olds in the CF clinic of the Toronto Hospital for Sick Children, latency-age children showed more behavior/adjustment problems than did preschoolers. This trend was more marked in males than females and also exceeded non-CF sibling agemates. IX Interestingly, the prevalence of problems was not 399
Family Development and Cystic Fibrosis
associated with severity of disease. Latency-age children's behavior was characterized by a somatic complaint profile. similar to the somatization disorder category in DSM-III-R. that is indicative of more internalizing adjustment difficulties in almost one-fourth of all the clinic patients. Factors such as chronic maternal depression contribute to higher rates of child maladjustment in this age group.17 Data gathered from parents reflect their experience of an increase in family stress associated with parental loss of control upon the child's school entry. The parents have exercised almost total control over their child's physical well-being. The interdependency that may develop under such conditions, particularly within the context of a life-threatening illness. may make the process of separation more anxietyprovoking for both parent and child. The finding that CF children's adjustment problems tend to be of an internalizing nature most likely reflects the conflicts surrounding issues of dependenceindependence. with the child's health-related status as the central focus. By contrast. latency-age children do not report changes in self-esteem during this transition. Discrepancies between parent and child reports in adjustment and symptomatology are documented. a factor that may account for the observed differences. and suggest the need for mUltisituational data sources. lX .W Parents of school-age children with CF have been found to be midway between parents of emotionally disturbed children and parents of healthy children on measures of individual and family adjustment. 411 These parents report decreased family satisfaction and family adjustment. Fathers exhibit more disturbed personality functioning than mothers, especially when the affected child is a male; their profiles suggest generalized distress that is within the range of fathers with emotionally disturbed children. When mothers experience distress, they are more likely to reflect increased feelings of depression and hopelessness. Two coping strategies have been associated with more favorable long-term family adjustment. ~~ The first is the parents' ability to endow 40(1
their child's illness with meaning (i.e., cognitively reframing illness-related hardships). They mobilize mutual support within the family system and solicit continued support from outside the family. At this stage. adaptation is determined by the parents' ability to respond to the challenges posed by CF through a healthy interpretation of illness-related events while maintaining internal family integrity and a viable social support network. ADOLESCENCE AND YOUNG ADULTHOOD: EMANCIPATION IN THE FACE OF DISEASE-INDUCED DEPENDENCY Advances in antibiotic treatments and nutritional support have increased the number of individuals with CF who survive into adolescence and young adulthood. Approximately 50% now live into their 20s and as many as 35% live to age 30 years. 4 1.7 The debilitating nature of their medical condition causes many 10 remain highly, if not totally. dependent on their parents. Understanding of the stress associated with parenting adolescents and young adults with CF has not kept pace with the advances in medical technology or increased patient longevity. The period of adolescence is marked by several family developmental tasks. It is during this time that the child begins the process of emancipation from the family of origin. experiencing an increased need to gain acceptance from peers and establish more extensive and intimate social relationships. They seek to establish their own identity. Although this is undeniablya time of stress and adaptation for the adolescent. it also brings change to the parenting subsystem that requires system adjustment and adaptation. Hence, adolescence is not merely the time during which the adolescent seeks emancipation from the parents but also when the parents must separate from the adolescent. For those with CF, however. this developmental period is most often accompanied by increasing deterioration in health, frequently making the full resolution of adolescent issues unrealistic.l~ For some adolescents with CF, certain asPSYCHOSOMATICS
Carter et al.
peets of their physical appearance, diminished physical endurance, and demanding treatment regimen may readily set them apart from peers. Negative changes in self-image, an area in which adolescents with CF may be particularly vulnerable, has been found to change more than any other aspect in their psychological profiles.~~ Sexual development may be delayed as a result of their pulmonary or nutritional status, especially in patients with severe disease, leading to low self-esteem at a time when peer pressure is intense.~1 To minimize their "differentness" from their peers, many adolescents with CF may deny the severity of their illness through violation of life-style restrictions and various levels of noncompliance with treatment regimens.~~
There is a significant relationship between the age of the child and compliance, with generally decreasing adherence in adolescence.~5 Even in the controlled confines of an inpatient medical setting, overall noncompliance rates of 35% are documented for chest physiotherapy, dietary restrictions, oral medications, patient records of their treatment, and cooperation with medical tests.~1 Between the extremes of complete compliance and noncompliance are various levels and patterns of cooperation that are mutually determined by the individual members of the system.~h With adolescents' increasing involvement in the larger social network come more complex influences on health beliefs and attitudes that influence their approach to compliance. During this developmental stage, the primary source of family stress is likely to evolve from conflicts associated with adherence to a prescribed program. In addition to the disavowal of parental restrictions, adolescents with CF develop an increasing awareness of their prognosis and proximity to terminal stages. Parents also are experiencing the stress associated with the increased awareness of the life-threatening aspects of the disease, which may variously influence their role in enforcing compliance. Rigorous adherence may fail to produce the improvements in health status that occurred earlier in the disease process or may be associated VOLUME.n· NUMBER -I. FAll.
1l)l)~
with undesirable and stigmatizing implications to social adjustment, such as receiving intravenous antibiotics while at school. The parent and adolescent are likely to make numerous compromises in adherence to treatment in an attempt to negotiate the process of approximating strict compliance with the medical regimen while at the same time meeting the adolescent's need for as normal a life as possible. The family is called on to maintain optimal levels of flexibility and adaptability in balancing the medical and psychological needs of the adolescent. For the treating physician, this stage often requires a broader perspective of family needs, even when it calls for some compromise from the gold standard of compliance with all aspects of the therapy. Flexibility may decrease family conflict and increase the family's sense of cohesion, which will ultimately contribute to the health of the developing adolescent.~5 THE TERMINAL STAGE Despite increased longevity, individuals with CF seldom survive beyond young adulthood. This most painful and stress-producing stage of the illness is perhaps the least understood as to its impact on the family. Little attention has been paid to the terminal stage in most research. Parents report experiencing significant distress with decreases in their child's pulmonary status. an inevitable occurrence in later adolescence and young adulthood. Compromised lung function is also associated with a decline in the child's adjustment. ~7 This deterioration presents the whole family with the reality about the progressive nature of the disease. Parental feelings of helplessness and guilt may persist well beyond the death of the child. In a follow-up study of 16 families who had lost a child to CF. almost half were judged to have not adequately resolved the loss 2 1/2 years after the child's death.~x As the CF child gets older. a realistic acceptance of the illness becomes a major variable in facilitating adaptive functioning.~' Whether this is true for coping with the impending or the actual loss of the child remains to be clarified. -101
Family Development and Cystic Fibrosis
CONCLUSIONS Increasing emphasis is being placed on establishing a developmental and family systems perspective in child psychiatry consultationliaison to pediatric specialists who treat children with chronic illnesses such as CF. 49 Examination of social-ecological factors in a more integrative manner to more fully understand the adaptation process among these families is warranted. Stressors experienced by the child and family transcend the specific condition; they are imbedded in the ongoing interactions with medical. educational. and social service systems. all of which are critical to planning effective intervention programs. In the case of a chronic and life-threatening disease like CF. well-designed longitudinal studies are needed that account for the relative contribution of a number of variables. including
the following: child. parent. and family characteristics; family premorbid functioning and coping efforts after diagnosis; disease status; formal and informal family support networks; and characteristics of the health care system. Multifactorial models that include the above variables. among others. may promote a more sophisticated understanding of family adjustment to having a child with a chronic illness across the life cycle. Lastly. the recent discovery of the CF gene and the development of more effective treatments and. ultimately. a cure may one day eliminate this disease from the list of chronic conditions to which children and families must learn to adapt and cope. Meanwhile. the ongoing search and the increasing hope of finding a cure also serve to exert another source of dynamic influence on the child and the family systems.
References I. McCubbin H. McCubbin M. Pallerson J. et al: CHIPcoping health inventory for parents: an assessment of parental coping patterns in the chronically ill child. JourI/ul of Mllrrillgl' UI/d Ihl' FIIII/ily 45:359-3711. 19K3 2. Willis DJ. Elliol CH. Jay S: Psychological effects of physical illness and its concomitanls. in Halllihook jil/' Ih.· Pmclil"l' of Pl'diatric Psrchology. ediled by Tuma JM. New York. John Wiley. 19K2. pp 2l\-66 3. Meadows A. Silber J: Delayed conseljuences of therapy for childhood cancer. Cal/c,.,. 35:271-2K6. 19K5 4. Wood RE. Leigh MW. Henry MM: The respiratory system. in Nd.wm f:.m·lI/illls of Pl'diulrics. edited by Behrman RE. Kliegman R. Philadelphia. PA. WB Saunders. 19911. pp 41 1-444 5. McKusick VA: M.'luldial/ Il/h,.,.il.IIlc/· iI/ MIII/: Callllogu.,s of AUlo.Wlllal DOlllil/alll. AU/(Is(lll/al Rl'cl'ssi...• UIIlI X-Lil/k"d Ph.·I/(lly".·s. 51h Ediliol/. Baltimore. MD. Johns Hopkins Universily Press. 197K 6. Kopito LE. Kosaky HJ. Schwachman H: Water and electrolytes in cervical mucus from patients with cystic fibrosis. FI'r/if SI"ril 24:512-519. 1973 7. Mallhews LW. Drotar D: Cystic fibrosis-a challenging long-term chronic disease. Pl'diulr Clil/ Norlh All/ 31: 133-152. 19K4 K. Riordan JR. Rommers JM. Kerem B. et al: Identitication of the cystic fibrosis gene: doning and characterization of complementary DNA. Sci"I/I"I' 245:1066-11l69. 19K9 9. Kerem B. Rommens JM. Buchanan JA. et al: Identification of the cystic fibrosis gene: genetic analysis. Sci,'I/I"I'
245: I1173- IOK5. 19911 II). Drumm ML. Pope HA. Cliff WHo et al: Correction of the
cystic librosis defect in vitro by retrovirus-mediated gene transfer. CI'/I K2: 1227-1232. 19911 II. Gregory RJ. Cheng SH. Rich DP. et al: Expression and characterization of the cystic librosis transmembrane conductance regulator. Naturl' .~45:3K2-3911. 19911 12. Crystal RA. Trapnell BC, Yoshimura K. el al: Gene therapy for cystic librosis: modulation of the respiratory epithelial cell target by gene lransfer. Pl'diatr Pullllol/ol 5(suppl):59-64. 1990 13. Wood RE. Boat TF. Doershuk CF: Cystic fibrosis: state of the art Alii R.... Rl's"ir Dis II :K33-K43. 1976 14. Cowen L. Corey M. Keenan N. el al: Family adaptation and psychosocial adjuslmenl to cystic librosis in the preschool child. SI~' Sci M.'d 211:553-560. 19115 15. Kashani JH. Barbero GJ. Wiltley Gc, et al: Psychological concomitants of cystic fibrosis in children and ado· lescents. Adoft'scl'l/cl' 23:1173-11110. 191111 16. Kazak AE: Families of c'hronically ill children: a systems and social-ecological model of adaptation and change. J C(ll/sull Clill PsychoI57:25-30. 19l19 17. Moise JR. Drotar D. Doershuk CF. et al: Correlates of psychosocial adjuslmenl among young adults with cystic librosis. J D.... 8"ha,' P"dialr ll: 141-1411. 19117 Ill. Simmons RJ. Corey M. Cowen L. et al: Behavioral adjustmenl of lalency age children with cystic' librosis. P.'.'"cho.wlII M.'d 49:291-301. 19117 19. Rosenstein BJ. Langbaum TS. Metz SJ: Cystic librosis:
PSYCHOSOMATICS
Carter et al.
diagnoslic considerations. Johns Hopkins Medical Journa/150:113-121. 19H2 20. Orenstein DM. Boat TM. Slern RC, et al: The effecl of early diagnosis and treatment in cyslic fibrosis. Am J Dis Child 13 1:973. 1977 21. Rosenstein BJ. Langbaum TS: Diagnosis. in Cystic Fibrosis, ediled by Taussig 1. New York. Thieme-Swlllon. 1984. pp 144-165 22. Venlers M: Familial coping with chronic and severe childhood illness: the case of cyslic fibrosis. Soc Sci Med 15:289-297. 1981 23. Holroyd J. GUlhrie D: Family Slress with chronic childhood illness: cyslic fibrosis. neuromuscular disease. and renal disease. J Clin PsychoI42:552-561. 1986 24. Crnic KA. Rogozin AS. Greenberg MT: Social intentclion and developmental compelence of pre-tenn and full-Ienn infanls during the first year of life. Child Del' 54:1199-1210.1983 25. Fischer-Fay A. Goldberg S. Simmons R. el al: Chronic illness and infant-mother allachmenl: cyslic fibrosis. J Del' 8('/101' Pediatr 9:266-270. 1988 26. Lawler RH. Nakielney W. Wrighl N: Psychological implications of cyslic fibrosis. Can Med Assoc J 94: 10431046.1966 27. McCOllom AT. Gibson LE: Family adaplation to Ihe child with cyslic fibrosis. J Pediatr 77:571-575. 1970 28. Turk J: Impacl of cyslic fibrosis on family functioning. Pi'iliatrics 34:67-71. 1964 29. Garmezy N: Slress. competence. and development: conlinuilies in Ihe sludy of schizophrenic adulls. children vulnerable to psychopathology and the search for stressresilient children. Am J Orthopsychiatry 46:580--590. 1987 30. Knan KA. Deatrick JA: How families manage chronic conditions: an analysis of the concept of nonnalization. Res Nul'S Health 9:215-222. 19H6 31. Evers-Kiebooms G. Dcnayer L. Cassiman JJ.et al: Family planning decisions after the binh of a cystic fibrosis child: the impact of prenatal diagnosis. Scand J GastroellleroI23:38-46. 1988 32. DcWet B. Cywes S: The psychosocial impact of cystic fibrosis: a review oflhe research literalUre. Scandinal'iml Medical Journal 65: 526-530. 1984 33. McCollom AT: Cyslic fibrosis: economic impacl upon lhe family. Am J Public Health 61: 1335-1340. 197/ 34. Bunon L: The Family Life of Sick Children: A Study of Families COpinli ...ith Chronic Disease. London. Routledge and Kegan Paul. 1975 35. Michalson H. Folleras S. Bentsen BS: Social-medical
VOLUME 33· NUMBER 4· FALL 1992
aspects of cystic fibrosis in Norway: the education and occupation of mOl hers. Scand J Gastroentero/23:60-64. 1988 36. Kalnins I. Churchill M. Terry G: Concurrent stress in families with a leukemic child. J Pediatr PsychoI5:8192. 1980 37. Walker LS. Oniz- Valdes JA. Newbrough JR: The role of malemal employment and depression in Ihe psychological adjustmenl of chronically ill. menIally retarded. and well children. J Pediatr Psychol 14:357-370. 1989 38. Kazdin AE. Esveldt-Dawson K. Unis A. el al: Child and parent evaluations of depression and aggression in psychiatric inpatienl children. J Abnorm Child Psychol 11:401-413.1983 39. Orvaschel J. Puig-Antich J. Chamhers W. el al: Relrospective assessmenI of prepubenal major depression with Ihe Kiddie SADS-E. J Am Mad Child Adole.
Child and Family Stress Family Developmental Perspectives on Cystic Fibrosis D. CARTER, PH.D. JON R. UREY, PH.D. NEMR S. EID, M.D.
BRYAN
The authors take a dl'l'elopmemal and family systems perspectil'e in rl'l'iewing research Of/ the family stressor,\' inherent in caring for a child with a chronic di.H'ase. Cystic fihrosis. a genetically transmitted and life-shortening disorder. exemplifies a chronic disease that places demands on the family that are hoth unique and shared with other prolonged illnesses. The authors chronicle the interaction of the dehilitating features of this disease and its demanding treatmem regimen with family dynamics from the point of initial diagnosis to the terminal stages.
I
t is well documented that caring for a child with a chronic illness or disability places extraordinary stress on the family system.1.2 Cystic fibrosis (CF) is such a disorder. The impact and course of childhood chronic illness is seldom static. and it changes as a function of advances in medical technology. Survival rates for various forms of childhood cancer. for example. have improved dramatically over the past few decades.' We are beginning to understand the effects of the many stresses and demands this places on the family system. Families of children with CF are confronted with the many difficulties associated with most chronic illnesses. They must also face a number of unique demands associated with this disorder. This article adopts a developmental and family systems perspective in examining the factors that influence the adjustment of families of children with CF, a viewpoint that is felt to be particularly useful in consulting with a variety of chronic pediatric conditions. VOLUME 33· NUMBER.t· FALL 1992
CYSTIC FIBROSIS AS A CHRONIC ILLNESS CF is the most common genetic disorder among Caucasians. affecting I in 2.000 live births;~ it affects all other racial groups to a lesser degree. CF is inherited in a classic. single-gene autosomal recessive manner.' CF involves nearly all mucus-secreting organs of the body. and the clinical manifestations are caused by obstruction of these organs' passageways by thick mucus. In the lungs. this process leads to progressive recurrent pneumonia. bronchial obstruction. and ultimately chronic respiratory Received Novemher 6. 1990; revised April 22. 1991; accepted May I. 1991. From the University of Louisville School of Medicine. Address reprint requests 10 Dr. Carter. Division of Child Psychiatry. Dept. ofPsychialry and Behav. ioral Sciences. University of Louisville School of Medicine. 200 E. Cheslnut St.. Louisville. KY 40202. Copyright © 1992 The Academy of Psychosomatic Medicine.
.N7
Family Development and Cystic Fibrosis
failure. In the pancreas, exocrine pancreatic insufficiency is observed in over 85% of patients, which can lead to malabsorption and malnutrition. Biliary cirrhosis occurs in 5% of patients, and obstruction in the reproductive system leads to sterility in almost all males and in 80% of females. 6 .7 CF has been considered primarily a childhood disorder; however, many patients are surviving into late adolescence and young adulthood. Approximately 50% of CF patients now survive to their late 20s because of better understanding of the disease; newer, more potent antibiotics; and progress in nutritional support. Management ofCF usually involves an extensive daily regimen that consists of chest physiotherapy, various inhalant medications, pancreatic enzymes, vitamins, supplemental diets, and other medications (i.e., antibiotics and bronchodilators). Some of these procedures are uncomfortable and time-consuming, may have a negative influence on the parent-child relationship, and may prove stressful to normal psychological development. As the disease progresses,there may be increasingly frequent hospitalizations due to exacerbations of pulmonary or digestive complications. This places additional demands on the child and family. The identification of the CF genex,~ has allowed new approaches to understanding the basic defect of this disease and is leading to the development of novel modalities of treatment. Some exciting current research has led to correction of the CF defect in vitro by a retrovirusmediated gene transfer,lll which involves inserting the correct gene with a modified vaccinia virus. J J Future research will address the feasibility of transferring the normal CF gene, with appropriate controlling elements, directly into the respiratory tract. J ~ Although there is intense international interest in finding a cure for CF, current treatment unfortunately continues to address only the complications and symptoms. The natural course of this illness involves progressive lung disease and premature death in almost 95% of patients. J.\ In conceptualizing the stressful effects on the family of a child with CF, there is great value .Wl!
in considering developmental issues. J4-IX The family's adjustment to having a child with CF varies considerably depending on many factors, such as frequency of exacerbations, degree of physical restriction, family composition, and support network. A discussion about family adjustment in relation to four developmental periods follows. INFANCY AND EARLY CHILDHOOD: IMPACT OF DIAGNOSIS AND FAMILY ACCOMMODATION The majority of children diagnosed with CF are identified within the first 2 years of life, although some cases go undetected until later childhood or even adolescence. Among 194 CF patients seen at the Johns Hopkins Hospital from 197 I to 1981, 58% were diagnosed in the first year of life, 87% by age 5 years, and 94% by age 10 years. I" At the Hospital for Sick Children in Toronto, the mean age of diagnosis was approximately 6 months for patients diagnosed between 1970 and 1985. 14 Early diagnosis is highly desirable because prompt recognition. followed by intensive intervention, may be associated with improved long-term outcome.~" Early diagnosis helps reduce the frustration of diagnostic delays, minimizes dangerous therapeutic misadventures, and allows family members to receive timely genetic counseling. ~J The period surrounding the diagnosis of CF in their children may be particularly stressful for parents; almost half of them report experiencing the greatest anxiety around the time of diagnosis.~~ The primary reason for this is often their frustration in the search for an accurate assessment and difficulty in anticipating the severity of the child's condition and decreased longevity. One anticipated effect of this stress, which has long-term developmental implications, is impairment in the bonding between mother and infant. However. CF children appear to have no impairment in infant-mother attachment,~\ a finding that is at variance with previous research in other populations of children with chronic illnesses.~4 This might be due to current PSYCHOSOMATICS
Carter et al.
medical management's ability to keep many young children with CF relatively symptomfree so that their long-term prognosis is not readily apparent.~~ A unique set of dynamics may evolve around the somewhat unpleasant and time-consuming home treatments that are essential for routine prophylactic care of the child with CF (i.e., inhalation therapy, chest percussions, and many oral medications). Anecdotal observations would suggest that these procedures may contribute to parental distress and guilt at having to regularly administer therapies that may be upsetting to the very young child. The extent to which this aspect of care contributes to family stress needs empirical validation. Whereas early studies found almost universally undesirable emotional reactions to CF by affected children and their families,~h-~x more recent investigations suggest a less negative response during early development. Parents of preschool children with CF do not rank difficulties related to child care, behavioral problems, or the general level of health/pathology of their families any differently than parents of healthy preschoolers, although there is a trend for children to display a somewhat more hostileaggressive stance.l~ Parents may use minimization and denial to reduce family stress at this stage. ~~.,n These strategies may be rather adaptive as most families with a preschool child with CF are observed to have organized family activities to accommodate the special needs of their child's illness within a year after diagnosis.2~ The majority of children with CF are the firstborn." Consequently, most parents are relatively young at the time of the diagnosis. Parental awareness of the risk associated with having other affected offspring is likely to influence their decision with regard to birth control. A study of 105 randomly selected families found that when the child with CF was the firstborn and diagnosis was made prior to a subsequent pregnancy, 63% of the parents decided against having more children:" The majority were aware of the 25% risk associated with subsequent pregnancies due to the autosoVOLUME 33. NUMBER 4· FALL 1992
mal recessive inheritance pattern. The higher the parents' perception of the probability, the more important was the effect on reproductive planning. The relatively young age of these parents also is associated with limited resources, which makes expenses incurred while seeking a diagnosis and acquiring the equipment needed for home management a disproportionate burden.'~ The financial stress associated with caring for a child with CF often leads to breakdowns in communication,~x family sacrifices,~x supplementary employment to meet costly commitments," and disrupted work patterns to keep q medical appointments. Among Norwegian families, mothers were more likely to forgo educational and professional goals compared with mothers of nonaffected children, whereas fathers had no changes in their school or career patterns.'~ Other studies failed to include financial demands and other concurrent sources of stress not directly related to the illness.'h There are also suggestions that maternal employment may provide a buffering effect against the stressors inherent in raising a child with a chronic illness.'7 Implementing the time-consuming daily treatment regimen associated with CF may leave parents feeling socially isolated. Mothers of children with CF have been found to score higher on measures of introversion and depression compared with fathers, perhaps reflecting the accumulating effects of decreased social network involvement. SCHOOL AGE: SYSTEMS ADJUSTMENT TO INCREASED CHILD AUTONOMY The adjustment negotiated by the parents and the child with CF may be disrupted by the transition into school. In a study of 6- to I 1year-olds in the CF clinic of the Toronto Hospital for Sick Children, latency-age children showed more behavior/adjustment problems than did preschoolers. This trend was more marked in males than females and also exceeded non-CF sibling agemates. IX Interestingly, the prevalence of problems was not 399
Family Development and Cystic Fibrosis
associated with severity of disease. Latency-age children's behavior was characterized by a somatic complaint profile. similar to the somatization disorder category in DSM-III-R. that is indicative of more internalizing adjustment difficulties in almost one-fourth of all the clinic patients. Factors such as chronic maternal depression contribute to higher rates of child maladjustment in this age group.17 Data gathered from parents reflect their experience of an increase in family stress associated with parental loss of control upon the child's school entry. The parents have exercised almost total control over their child's physical well-being. The interdependency that may develop under such conditions, particularly within the context of a life-threatening illness. may make the process of separation more anxietyprovoking for both parent and child. The finding that CF children's adjustment problems tend to be of an internalizing nature most likely reflects the conflicts surrounding issues of dependenceindependence. with the child's health-related status as the central focus. By contrast. latency-age children do not report changes in self-esteem during this transition. Discrepancies between parent and child reports in adjustment and symptomatology are documented. a factor that may account for the observed differences. and suggest the need for mUltisituational data sources. lX .W Parents of school-age children with CF have been found to be midway between parents of emotionally disturbed children and parents of healthy children on measures of individual and family adjustment. 411 These parents report decreased family satisfaction and family adjustment. Fathers exhibit more disturbed personality functioning than mothers, especially when the affected child is a male; their profiles suggest generalized distress that is within the range of fathers with emotionally disturbed children. When mothers experience distress, they are more likely to reflect increased feelings of depression and hopelessness. Two coping strategies have been associated with more favorable long-term family adjustment. ~~ The first is the parents' ability to endow 40(1
their child's illness with meaning (i.e., cognitively reframing illness-related hardships). They mobilize mutual support within the family system and solicit continued support from outside the family. At this stage. adaptation is determined by the parents' ability to respond to the challenges posed by CF through a healthy interpretation of illness-related events while maintaining internal family integrity and a viable social support network. ADOLESCENCE AND YOUNG ADULTHOOD: EMANCIPATION IN THE FACE OF DISEASE-INDUCED DEPENDENCY Advances in antibiotic treatments and nutritional support have increased the number of individuals with CF who survive into adolescence and young adulthood. Approximately 50% now live into their 20s and as many as 35% live to age 30 years. 4 1.7 The debilitating nature of their medical condition causes many 10 remain highly, if not totally. dependent on their parents. Understanding of the stress associated with parenting adolescents and young adults with CF has not kept pace with the advances in medical technology or increased patient longevity. The period of adolescence is marked by several family developmental tasks. It is during this time that the child begins the process of emancipation from the family of origin. experiencing an increased need to gain acceptance from peers and establish more extensive and intimate social relationships. They seek to establish their own identity. Although this is undeniablya time of stress and adaptation for the adolescent. it also brings change to the parenting subsystem that requires system adjustment and adaptation. Hence, adolescence is not merely the time during which the adolescent seeks emancipation from the parents but also when the parents must separate from the adolescent. For those with CF, however. this developmental period is most often accompanied by increasing deterioration in health, frequently making the full resolution of adolescent issues unrealistic.l~ For some adolescents with CF, certain asPSYCHOSOMATICS
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peets of their physical appearance, diminished physical endurance, and demanding treatment regimen may readily set them apart from peers. Negative changes in self-image, an area in which adolescents with CF may be particularly vulnerable, has been found to change more than any other aspect in their psychological profiles.~~ Sexual development may be delayed as a result of their pulmonary or nutritional status, especially in patients with severe disease, leading to low self-esteem at a time when peer pressure is intense.~1 To minimize their "differentness" from their peers, many adolescents with CF may deny the severity of their illness through violation of life-style restrictions and various levels of noncompliance with treatment regimens.~~
There is a significant relationship between the age of the child and compliance, with generally decreasing adherence in adolescence.~5 Even in the controlled confines of an inpatient medical setting, overall noncompliance rates of 35% are documented for chest physiotherapy, dietary restrictions, oral medications, patient records of their treatment, and cooperation with medical tests.~1 Between the extremes of complete compliance and noncompliance are various levels and patterns of cooperation that are mutually determined by the individual members of the system.~h With adolescents' increasing involvement in the larger social network come more complex influences on health beliefs and attitudes that influence their approach to compliance. During this developmental stage, the primary source of family stress is likely to evolve from conflicts associated with adherence to a prescribed program. In addition to the disavowal of parental restrictions, adolescents with CF develop an increasing awareness of their prognosis and proximity to terminal stages. Parents also are experiencing the stress associated with the increased awareness of the life-threatening aspects of the disease, which may variously influence their role in enforcing compliance. Rigorous adherence may fail to produce the improvements in health status that occurred earlier in the disease process or may be associated VOLUME.n· NUMBER -I. FAll.
1l)l)~
with undesirable and stigmatizing implications to social adjustment, such as receiving intravenous antibiotics while at school. The parent and adolescent are likely to make numerous compromises in adherence to treatment in an attempt to negotiate the process of approximating strict compliance with the medical regimen while at the same time meeting the adolescent's need for as normal a life as possible. The family is called on to maintain optimal levels of flexibility and adaptability in balancing the medical and psychological needs of the adolescent. For the treating physician, this stage often requires a broader perspective of family needs, even when it calls for some compromise from the gold standard of compliance with all aspects of the therapy. Flexibility may decrease family conflict and increase the family's sense of cohesion, which will ultimately contribute to the health of the developing adolescent.~5 THE TERMINAL STAGE Despite increased longevity, individuals with CF seldom survive beyond young adulthood. This most painful and stress-producing stage of the illness is perhaps the least understood as to its impact on the family. Little attention has been paid to the terminal stage in most research. Parents report experiencing significant distress with decreases in their child's pulmonary status. an inevitable occurrence in later adolescence and young adulthood. Compromised lung function is also associated with a decline in the child's adjustment. ~7 This deterioration presents the whole family with the reality about the progressive nature of the disease. Parental feelings of helplessness and guilt may persist well beyond the death of the child. In a follow-up study of 16 families who had lost a child to CF. almost half were judged to have not adequately resolved the loss 2 1/2 years after the child's death.~x As the CF child gets older. a realistic acceptance of the illness becomes a major variable in facilitating adaptive functioning.~' Whether this is true for coping with the impending or the actual loss of the child remains to be clarified. -101
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CONCLUSIONS Increasing emphasis is being placed on establishing a developmental and family systems perspective in child psychiatry consultationliaison to pediatric specialists who treat children with chronic illnesses such as CF. 49 Examination of social-ecological factors in a more integrative manner to more fully understand the adaptation process among these families is warranted. Stressors experienced by the child and family transcend the specific condition; they are imbedded in the ongoing interactions with medical. educational. and social service systems. all of which are critical to planning effective intervention programs. In the case of a chronic and life-threatening disease like CF. well-designed longitudinal studies are needed that account for the relative contribution of a number of variables. including
the following: child. parent. and family characteristics; family premorbid functioning and coping efforts after diagnosis; disease status; formal and informal family support networks; and characteristics of the health care system. Multifactorial models that include the above variables. among others. may promote a more sophisticated understanding of family adjustment to having a child with a chronic illness across the life cycle. Lastly. the recent discovery of the CF gene and the development of more effective treatments and. ultimately. a cure may one day eliminate this disease from the list of chronic conditions to which children and families must learn to adapt and cope. Meanwhile. the ongoing search and the increasing hope of finding a cure also serve to exert another source of dynamic influence on the child and the family systems.
References I. McCubbin H. McCubbin M. Pallerson J. et al: CHIPcoping health inventory for parents: an assessment of parental coping patterns in the chronically ill child. JourI/ul of Mllrrillgl' UI/d Ihl' FIIII/ily 45:359-3711. 19K3 2. Willis DJ. Elliol CH. Jay S: Psychological effects of physical illness and its concomitanls. in Halllihook jil/' Ih.· Pmclil"l' of Pl'diatric Psrchology. ediled by Tuma JM. New York. John Wiley. 19K2. pp 2l\-66 3. Meadows A. Silber J: Delayed conseljuences of therapy for childhood cancer. Cal/c,.,. 35:271-2K6. 19K5 4. Wood RE. Leigh MW. Henry MM: The respiratory system. in Nd.wm f:.m·lI/illls of Pl'diulrics. edited by Behrman RE. Kliegman R. Philadelphia. PA. WB Saunders. 19911. pp 41 1-444 5. McKusick VA: M.'luldial/ Il/h,.,.il.IIlc/· iI/ MIII/: Callllogu.,s of AUlo.Wlllal DOlllil/alll. AU/(Is(lll/al Rl'cl'ssi...• UIIlI X-Lil/k"d Ph.·I/(lly".·s. 51h Ediliol/. Baltimore. MD. Johns Hopkins Universily Press. 197K 6. Kopito LE. Kosaky HJ. Schwachman H: Water and electrolytes in cervical mucus from patients with cystic fibrosis. FI'r/if SI"ril 24:512-519. 1973 7. Mallhews LW. Drotar D: Cystic fibrosis-a challenging long-term chronic disease. Pl'diulr Clil/ Norlh All/ 31: 133-152. 19K4 K. Riordan JR. Rommers JM. Kerem B. et al: Identitication of the cystic fibrosis gene: doning and characterization of complementary DNA. Sci"I/I"I' 245:1066-11l69. 19K9 9. Kerem B. Rommens JM. Buchanan JA. et al: Identification of the cystic fibrosis gene: genetic analysis. Sci,'I/I"I'
245: I1173- IOK5. 19911 II). Drumm ML. Pope HA. Cliff WHo et al: Correction of the
cystic librosis defect in vitro by retrovirus-mediated gene transfer. CI'/I K2: 1227-1232. 19911 II. Gregory RJ. Cheng SH. Rich DP. et al: Expression and characterization of the cystic librosis transmembrane conductance regulator. Naturl' .~45:3K2-3911. 19911 12. Crystal RA. Trapnell BC, Yoshimura K. el al: Gene therapy for cystic librosis: modulation of the respiratory epithelial cell target by gene lransfer. Pl'diatr Pullllol/ol 5(suppl):59-64. 1990 13. Wood RE. Boat TF. Doershuk CF: Cystic fibrosis: state of the art Alii R.... Rl's"ir Dis II :K33-K43. 1976 14. Cowen L. Corey M. Keenan N. el al: Family adaptation and psychosocial adjuslmenl to cystic librosis in the preschool child. SI~' Sci M.'d 211:553-560. 19115 15. Kashani JH. Barbero GJ. Wiltley Gc, et al: Psychological concomitants of cystic fibrosis in children and ado· lescents. Adoft'scl'l/cl' 23:1173-11110. 191111 16. Kazak AE: Families of c'hronically ill children: a systems and social-ecological model of adaptation and change. J C(ll/sull Clill PsychoI57:25-30. 19l19 17. Moise JR. Drotar D. Doershuk CF. et al: Correlates of psychosocial adjuslmenl among young adults with cystic librosis. J D.... 8"ha,' P"dialr ll: 141-1411. 19117 Ill. Simmons RJ. Corey M. Cowen L. et al: Behavioral adjustmenl of lalency age children with cystic' librosis. P.'.'"cho.wlII M.'d 49:291-301. 19117 19. Rosenstein BJ. Langbaum TS. Metz SJ: Cystic librosis:
PSYCHOSOMATICS
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diagnoslic considerations. Johns Hopkins Medical Journa/150:113-121. 19H2 20. Orenstein DM. Boat TM. Slern RC, et al: The effecl of early diagnosis and treatment in cyslic fibrosis. Am J Dis Child 13 1:973. 1977 21. Rosenstein BJ. Langbaum TS: Diagnosis. in Cystic Fibrosis, ediled by Taussig 1. New York. Thieme-Swlllon. 1984. pp 144-165 22. Venlers M: Familial coping with chronic and severe childhood illness: the case of cyslic fibrosis. Soc Sci Med 15:289-297. 1981 23. Holroyd J. GUlhrie D: Family Slress with chronic childhood illness: cyslic fibrosis. neuromuscular disease. and renal disease. J Clin PsychoI42:552-561. 1986 24. Crnic KA. Rogozin AS. Greenberg MT: Social intentclion and developmental compelence of pre-tenn and full-Ienn infanls during the first year of life. Child Del' 54:1199-1210.1983 25. Fischer-Fay A. Goldberg S. Simmons R. el al: Chronic illness and infant-mother allachmenl: cyslic fibrosis. J Del' 8('/101' Pediatr 9:266-270. 1988 26. Lawler RH. Nakielney W. Wrighl N: Psychological implications of cyslic fibrosis. Can Med Assoc J 94: 10431046.1966 27. McCOllom AT. Gibson LE: Family adaplation to Ihe child with cyslic fibrosis. J Pediatr 77:571-575. 1970 28. Turk J: Impacl of cyslic fibrosis on family functioning. Pi'iliatrics 34:67-71. 1964 29. Garmezy N: Slress. competence. and development: conlinuilies in Ihe sludy of schizophrenic adulls. children vulnerable to psychopathology and the search for stressresilient children. Am J Orthopsychiatry 46:580--590. 1987 30. Knan KA. Deatrick JA: How families manage chronic conditions: an analysis of the concept of nonnalization. Res Nul'S Health 9:215-222. 19H6 31. Evers-Kiebooms G. Dcnayer L. Cassiman JJ.et al: Family planning decisions after the binh of a cystic fibrosis child: the impact of prenatal diagnosis. Scand J GastroellleroI23:38-46. 1988 32. DcWet B. Cywes S: The psychosocial impact of cystic fibrosis: a review oflhe research literalUre. Scandinal'iml Medical Journal 65: 526-530. 1984 33. McCollom AT: Cyslic fibrosis: economic impacl upon lhe family. Am J Public Health 61: 1335-1340. 197/ 34. Bunon L: The Family Life of Sick Children: A Study of Families COpinli ...ith Chronic Disease. London. Routledge and Kegan Paul. 1975 35. Michalson H. Folleras S. Bentsen BS: Social-medical
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aspects of cystic fibrosis in Norway: the education and occupation of mOl hers. Scand J Gastroentero/23:60-64. 1988 36. Kalnins I. Churchill M. Terry G: Concurrent stress in families with a leukemic child. J Pediatr PsychoI5:8192. 1980 37. Walker LS. Oniz- Valdes JA. Newbrough JR: The role of malemal employment and depression in Ihe psychological adjustmenl of chronically ill. menIally retarded. and well children. J Pediatr Psychol 14:357-370. 1989 38. Kazdin AE. Esveldt-Dawson K. Unis A. el al: Child and parent evaluations of depression and aggression in psychiatric inpatienl children. J Abnorm Child Psychol 11:401-413.1983 39. Orvaschel J. Puig-Antich J. Chamhers W. el al: Relrospective assessmenI of prepubenal major depression with Ihe Kiddie SADS-E. J Am Mad Child Adole.
