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Parents’ Responses to Their Child’s Diagnosis of Neurofibromatosis 1 Joan Ablon* Medical Anthropology Program, Department of Anthropology, History, and Social Medicine, University of California, San Francisco, California Eighteen unaffected families with an af- fected child were interviewed in their homes to chronicle the experiences of par- ents in receiving their child’s diagnosis of neurofibromatosis (NF) 1. Families were re- cruited through NF support groups and the Genetics Departments of two metropolitan hospitals in Northern California. Character- istics of disclosures were often at variance with suggestions made in recent years for the giving of “bad news.” Disclosures typi- cally were made “helter-skelter” during regular examinations. Parents in 16 of the families described shock, upset, and subse- quent depression as their responses to the diagnosis. The overriding issues, which dominated in the disclosure, were the un- certainty of the condition, the possibility of many diverse symptoms, and its historic misdiagnosis as “The Elephant Man’s Dis- ease.” However, physicians’ attention to the setting and style of disclosure, imparting appropriate and positive information, al- lowance of additional time for careful expla- nation, and rescheduling a follow-up ap- pointment, may be able to more effectively assist parents in receiving and more posi- tively adapting to their child’s diagnosis. Am. J. Med. Genet. 93:136–142, 2000. © 2000 Wiley-Liss, Inc. KEY WORDS: neurofibromatosis 1; neurofi- bromatosis 1 diagnosis; par- ents’ response; “bad news”; “The Elephant Man’s Dis- ease”; neurofibromatosis 1 psychosocial aspects INTRODUCTION Lucy Bennett 1 described her reaction to learning that her son, Matt, had neurofibromatosis 1: “I was in a car accident when I was 16. It changed my life. I view NF for Matt in the same way. It’s totally unpredictable and variable, and to me, that’s life. You don’t know what’s going to happen to you, but you can deal with it. If you accept that about life, you can approach it asser- tively. I say that now, but that’s not how I felt in the beginning [6 years prior to the interview]. I had to go see a psychiatrist. I went into a deep, deep depression, because, as I learned in therapy, I have this responsi- bility kind of approach to things. Everybody’s problems are my problems and I didn’t know what to do for Matt. How could I make his life perfect? Now we had this, this unknown cloud in his future and what could I do, what would I do if he gets these ugly growths on him? How would I handle it? How would I deal with it? With help I finally came to realize that I shouldn’t have to deal with it. Matt would have to deal with it. And I had to separate those two things. That’s what gave me my sanity back, understanding that it is really going to be his problem in life, if it was going to be a problem. And all I could do is guide or support or help, but it really is not anything I could change for him. That’s when I got better and started accepting it. It took between 6 and 9 months before I could talk about it without crying. I stopped wearing mascara when this happened.” A substantial literature documents the emotional re- actions of parents to the diagnosis and disclosure that their child is physically or mentally different [for de- tailed reviews, see Bristor, 1984; Blacher, 1984; Fortier and Wanlass, 1984; Ablon, 1988; and for cross cultural reactions, see Krauss-Mars and Lachman, 1994]. Con- cordantly clinicians are giving attention to factors in the setting and process of disclosure of “bad news” and characteristics of the family that may contribute to Grant sponsor: National Science Foundation; Grant number: BNS8819633; Grant sponsor: University of California, San Fran- cisco, Academic Senate Research. *Correspondence to: Joan Ablon, Ph.D., Medical Anthropology Program, Department of Anthropology, History, and Social Medi- cine, Box 0850, University of California, San Francisco, 3333 California Street, Suite 485, San Francisco, CA 94143–0850. E-mail: [email protected] Received 20 October 1999; Accepted 23 March 2000 1 The names used throughout this article are pseudonyms. American Journal of Medical Genetics 93:136–142 (2000) © 2000 Wiley-Liss, Inc.

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Page 1: Parents' responses to their child's diagnosis of neurofibromatosis 1

Parents’ Responses to Their Child’s Diagnosis ofNeurofibromatosis 1

Joan Ablon*Medical Anthropology Program, Department of Anthropology, History, and Social Medicine, University of California,San Francisco, California

Eighteen unaffected families with an af-fected child were interviewed in theirhomes to chronicle the experiences of par-ents in receiving their child’s diagnosis ofneurofibromatosis (NF) 1. Families were re-cruited through NF support groups and theGenetics Departments of two metropolitanhospitals in Northern California. Character-istics of disclosures were often at variancewith suggestions made in recent years forthe giving of “bad news.” Disclosures typi-cally were made “helter-skelter” duringregular examinations. Parents in 16 of thefamilies described shock, upset, and subse-quent depression as their responses to thediagnosis. The overriding issues, whichdominated in the disclosure, were the un-certainty of the condition, the possibility ofmany diverse symptoms, and its historicmisdiagnosis as “The Elephant Man’s Dis-ease.” However, physicians’ attention to thesetting and style of disclosure, impartingappropriate and positive information, al-lowance of additional time for careful expla-nation, and rescheduling a follow-up ap-pointment, may be able to more effectivelyassist parents in receiving and more posi-tively adapting to their child’s diagnosis.Am. J. Med. Genet. 93:136–142, 2000.© 2000 Wiley-Liss, Inc.

KEY WORDS: neurofibromatosis 1; neurofi-bromatosis 1 diagnosis; par-ents’ response; “bad news”;“The Elephant Man’s Dis-

ease”; neurofibromatosis 1psychosocial aspects

INTRODUCTION

Lucy Bennett1 described her reaction to learningthat her son, Matt, had neurofibromatosis 1: “I was ina car accident when I was 16. It changed my life. I viewNF for Matt in the same way. It’s totally unpredictableand variable, and to me, that’s life. You don’t knowwhat’s going to happen to you, but you can deal with it.If you accept that about life, you can approach it asser-tively. I say that now, but that’s not how I felt in thebeginning [6 years prior to the interview]. I had to gosee a psychiatrist. I went into a deep, deep depression,because, as I learned in therapy, I have this responsi-bility kind of approach to things. Everybody’s problemsare my problems and I didn’t know what to do for Matt.How could I make his life perfect? Now we had this,this unknown cloud in his future and what could I do,what would I do if he gets these ugly growths on him?How would I handle it? How would I deal with it? Withhelp I finally came to realize that I shouldn’t have todeal with it. Matt would have to deal with it. And I hadto separate those two things. That’s what gave me mysanity back, understanding that it is really going to behis problem in life, if it was going to be a problem. Andall I could do is guide or support or help, but it really isnot anything I could change for him. That’s when I gotbetter and started accepting it. It took between 6 and 9months before I could talk about it without crying. Istopped wearing mascara when this happened.”

A substantial literature documents the emotional re-actions of parents to the diagnosis and disclosure thattheir child is physically or mentally different [for de-tailed reviews, see Bristor, 1984; Blacher, 1984; Fortierand Wanlass, 1984; Ablon, 1988; and for cross culturalreactions, see Krauss-Mars and Lachman, 1994]. Con-cordantly clinicians are giving attention to factors inthe setting and process of disclosure of “bad news” andcharacteristics of the family that may contribute to

Grant sponsor: National Science Foundation; Grant number:BNS8819633; Grant sponsor: University of California, San Fran-cisco, Academic Senate Research.

*Correspondence to: Joan Ablon, Ph.D., Medical AnthropologyProgram, Department of Anthropology, History, and Social Medi-cine, Box 0850, University of California, San Francisco, 3333California Street, Suite 485, San Francisco, CA 94143–0850.E-mail: [email protected]

Received 20 October 1999; Accepted 23 March 2000 1The names used throughout this article are pseudonyms.

American Journal of Medical Genetics 93:136–142 (2000)

© 2000 Wiley-Liss, Inc.

Page 2: Parents' responses to their child's diagnosis of neurofibromatosis 1

family response, acceptance of, and adaptation to theirchild’s condition. Current guidelines derived from sug-gestions of physicians and patients emphasize the im-portance of parents being told closely following birth;the physician’s sensitivity and effectiveness in disclos-ing the nature of the child’s condition by planning thesetting; assessing the family’s background, knowledge,and experience and choosing strategies suited to thefamily’s particular situation; providing clear and de-tailed information on the condition in a positive fash-ion, with information on specialty referrals and com-munity resources included; physicians allowingsufficient time for adequate communication, questions,and ventilation; and arranging for both parents or theparents’ support network to be present [Turner andSloper, 1992; Krahn et al., 1993; Sloper and Turner,1993; Garwick et al., 1995; Girgis and Sanson-Fisher,1995; Ptacek and Eberhardt, 1996; Chisolm et al.,1997; Shields, 1998].

This article will report on parental response to thedisclosure and realization that their child has neurofi-bromatosis 1 (NF1). Characteristics peculiar to NF1and the history of the condition in gaining popular at-tention and notoriety in the United States figureprominently in the configurations of responses and ad-aptation to the condition, both for parents and affectedindividuals. NF1 typically is manifest through its mostcommon features of cafe-au-lait spots and dermal neu-rofibromas; however, skeletal deformities, optic tu-mors, and learning disabilities are also common [Ru-benstein and Korf, 1990; Huson and Hughes, 1994;Gutmann et al., 1997; Friedman et al., 1999]. WhileNF1 is an autosomal dominant condition, one half of allcases are thought to represent new mutations. Char-acteristics, which were particularly frightening for par-ents, were the heterogeneity of its presentation and thegeneral unpredictability of its progression.

NF1 was described clearly by Friedrich Daniel vonRecklinghausen in 1882, and thereafter was commonlycalled “von Recklinghausen Disease.” NF1 was essen-tially unknown to the general public until it becameidentified as “The Elephant Man’s Disease” throughthe publication in 1971 of Ashley Montagu’s The El-ephant Man: A Study in Human Dignity. Montagu’sbook was centered on the major essay of the prominentnineteenth century surgeon Sir Frederick Treves’ vol-ume, The Elephant Man and Other Reminiscences,published in 1923. Montagu presented Treves’ vividand moving 25-page account of Joseph Merrick, an un-fortunate young Englishman so grossly disfigured thathe lived a miserable life as a carnival attraction. Mer-rick’s condition was diagnosed as NF1 early in this cen-tury and this diagnosis existed until 1986 when hiscondition was rediagnosed as Proteus Syndrome, amuch rarer disorder than NF1 [Tibbles and Cohen,1986; Cohen, 1988]. This diagnosis is still under dis-cussion, however it is now generally conceded thatwhatever Merrick had, it was not NF1.

The vivid portrayal of Merrick’s life on Americanstage, screen, and television parlayed the designationof his condition, “The Elephant Man’s Disease,” into ahousehold phrase, a metaphor for the grimmest ex-treme of ugliness. Elsewhere [Ablon, 1995], I have ex-

plored the impact of this misdiagnosis for affectedadults and for the scientific community.

MATERIALS AND METHODS

The data presented here have resulted from a largerstudy of life experiences and coping patterns of adultswith NF1 and unaffected parents of an affected child[Ablon, 1992, 1999]. Eighteen unaffected families withan affected child were interviewed during the years of1988 through the mid 1990s to elicit life and medicalexperiences, coping patterns, social supports, and ad-aptation to living with a chronic and often stigmatizedgenetic condition. Families were recruited throughsupport groups of the National NeurofibromatosisFoundation, Inc. and the California NeurofibromatosisNetwork, and from the caseloads of the Genetics De-partments of two major metropolitan hospitals inNorthern California. Informed consent was obtainedfrom all parents interviewed. Parents were interviewedin their homes or a setting of their choice to contributeto their comfort and security in the interview. Theywere asked to discuss a gamut of issues related to thediagnosis and management of their child’s conditionwith emphasis on the psychosocial issues inherent inhaving a child with NF1.

The classic anthropological field method of semi-directed open-ended qualitative interviewing was used.This method, a hallmark of anthropological research,allowed parents the broadest leeway in suggesting top-ics for discussion and in providing narrative accountsof their experiences in as much detail as they wished.Most interviews were about 3 hr long, but many weremuch longer. A subset of eight parents were inter-viewed two or more times to elicit more detail. Parents’statements were consistent with the voiced experiencesof a much larger population of parents whose accountswere systematically recorded at local and regional sup-port group meetings from 1988 through 1998. It is notknown if parents who participate in support groupsand those who agree to be interviewed are representa-tive of the population of all parents of children withNF1, yet among the parents interviewed there was asignificant commonality of feelings and expressed anxi-eties about many of the concerns they and their chil-dren face in dealing with NF1.

Interviews were carried out with both parents in ev-ery case but one where there were two parents in thehome. In single-parent homes the mother was the pri-mary respondent. The affected children’s ages variedfrom 3 to 29 years at the time of interviewing. Althoughthe diagnoses and early communications with physi-cians occurred years before, most parents stated theyhad no problems in recalling these events that charac-teristically were regarded as traumatic. In half of thecases diagnosis occurred shortly following birth or inthe first year of life. For the remainder, diagnosis wasmade months or even years later. Diagnosis was madetypically on the basis of multiple cafe-au-lait spots orskeletal (pseudoarthrosis) or eye (optic glioma) prob-lems.

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RESULTS

Parents recounted their shock, fear, and subsequentdepression at learning of their child’s NF1. Said LucyBennett, “When he was born, we noticed a couple ofspots on Matt, but we didn’t think much of it. Then wehappened to start with a new doctor. She called me intoher office and then told me that he had neurofibroma-tosis, and that basically it wasn’t anything to be con-cerned about, and that she had sent away for someinformation from a foundation that existed. And that itwas known as The Elephant Man’s Disease, but ofcourse, that was an extreme case.

“I sat there in the room with my mouth open justtrying to relate to what she was saying. I asked her tospell it, and she reiterated there was nothing to worryabout. ‘We’ll just monitor him as he grows and see ifanything happens.’ But she also said there was a foun-dation for the condition, which made it sound moreserious to me. So I got a double message. You get thisword and you don’t know what to do with it, and I, I’manalytic and I’m intense. I don’t deal well with un-knowingness. My husband deals much better than I dowith unknowingness. So, I went immediately to thelibrary and I looked up everything they had written onneurofibromatosis and I cried for 3 days.”

And another mother said, “We took our neighborwho’s a nurse with us just to kind of help us under-stand whatever he was going to tell us because wecould tell he had something important to say. The ge-neticist said, ‘I think Ray has a syndrome called neu-rofibromatosis.’ He told us that we’d need to have hiseyes and his ears watched carefully. He said, ‘Neurofi-bromatosis used to be called The Elephant Man’s Dis-ease but that’s distorted. That’s not really what hap-pens to these kids today. We have modern medicine tomake sure the children aren’t deformed like that. Butthat’s the kind of disease he has.’ This nurse got all thisliterature for us and copied it.”

[How did you feel after the meeting?]“I was devastated. I was really devastated. I remem-

ber my sister came over, and I just fell apart.”And another parent said, “The orthopedist first told

us. He said that she probably had a genetic condition,and he started counting the spots. It was just like get-ting knocked on the head. We were dumbfounded. Itwas a real shock to us. He said it was something weneeded to look into, but he didn’t say much. We wantedhim to answer questions but he was hesitant to do itbecause it wasn’t his expertise anyway. And I think hedidn’t want to scare us. There was something real se-rious that he needed to deal with which was her leg[pseudoarthrosis]; this was a very big concern.

“Where we lived we couldn’t get to a neurologist. Ithink the doctor tried for a month not to alarm us toomuch. He was trying to tell us, ‘You’re just going tohave to take it 1 day at a time.’ There wasn’t much theyknew about the disorder, so that wasn’t very comfort-ing to us. And also I think it was he who gave us thislittle handout. I started reading it and I never finishedit. It was just too much to deal with, you know, just

listed all the things that could go wrong, and we didn’tknow better at the time. That was a real hard time forus when we did find out.”

Several others recounted blunt disclosures, whichadded to their shock: “Oh, Dr. Diamond saw it right offthe bat. He saw the brown spots everywhere and hegoes, ‘Oh, NF.’ I said, ‘What’s that?’ So he took me inand showed me this book of von Recklinghausen. It wasgross! Big old huge deformities and growths every-where. It flipped me out. I just went, ‘Oh, my God, thisis what my son has!’ ”

And another parent said, “Usually, doctors won’t tellyou anything definite, but this doctor took one look atthe marks on her and said, ‘Yes, she does have NF.’ Hesaid, ‘You had better not get pregnant again. You andyour husband had better get some genetic testing.’ As Iwalked out, I thought, ‘Well, I can deal with this and Ican take care of it. No, I’m not going to cry. This issomething I have really under control.’ It wasn’t until Igot home that I realized that I had not put the baby’sstroller in the car. [Laughing] I didn’t really have itunder control at all.”

And a father recounted, “The first thing I asked wasabout the prognosis for it. He said that the only patienthe knew who had it died in adolescence.”

THE DIAGNOSIS OF “THE ELEPHANTMAN’S DISEASE”

The mention of The Elephant Man’s Disease by phy-sicians compounded parents’ distress and brought hor-ror to the diagnosis. The greatest traumas occurredwhen this labeling was included with the initial diag-nosis. One neurologist who sees many NF1 patientscommented that he found that the less knowledgeablephysicians were about the condition, the more likelythey were to use the term “The Elephant Man’s Dis-ease.” Said a mother, “Then the doctor told me thatKaren had The Elephant Man’s Disease I fainted deadaway on his floor. Then when I told my husband laterthat day I fainted again.”

In three cases, parents themselves suggested to theirphysicians that their child might have NF1, based ontheir seeing informational materials included withtelevision shows or articles on The Elephant Man. Inall of these cases their physicians told them that it washighly unlikely because NF1 was a “rare” and “bizarre”condition. Some parents were told that the conditionwould not be diagnosed with certainty for several yearsand that they should not worry about it. Recounted amother, “We noticed that she had these cafe-au-laitmarks on her stomach. Some of them were large. Iasked the doctor why she had these marks. He said itcould be most anything. Then I saw The Elephant Manon television and there was a kind of informationalbulletin with it. So then I went back and asked him ifit could be NF. He said, ’Oh well, it could be, but wewon’t know for a year or so. If it is, she’ll probablydevelop a brain tumor. But it may not be NF, so don’tworry about it. Come back in a year.’ It was so terrible,I walked out and thought, ‘oh no, it couldn’t be that.’ Ithink I was into denial, because you’re looking at thiscute little kid who’s not only cute but is your kid, and if

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the doctors can’t think of it as a possibility, how can theparent think of it as a possibility? This is kind of yourpart in the miracle of life and you have these hopes andyou can’t imagine having anything go wrong or thatyour kid is going to suffer in any way, so it’s just reallyhard to think of it as a possibility.”

Four mothers and a father immediately went to alibrary to read up on their child’s condition. Readingmaterials often painted the bleakest picture for theirexpectations for the future of their child. Some mothersrecounted their experiences: “The doctor said, ‘Don’ttry to read anything about it. It will be too confusing.’I rushed right to the library. All you need to do is tell amother, ‘Don’t read up on it.’ I went right to the Uni-versity medical library.”

[What was your reaction?]“Horror. Horror.”Another mother recounted that she experienced the

first indication of the stigma around the conditionwhen she went to her library. She was trying to findsomething on NF1 and she couldn’t remember how tospell it. Finally, when a librarian asked if he could helpher she told him, “I think my child may have The El-ephant Man’s Disease, and could you help me?” Hefound some materials for her. When she left the library,she noticed that all of the librarians were standing atthe desk and staring at her. She decided then she hadbetter not say anything to anyone else about it.

Less than one-fourth of the sample were referred togeneticists or genetic counselors. Those who went werepresented with a much more positive, hopeful picturethan they received from the physicians who initiallygave them the diagnosis. One mother said, “Dr. Aaronwent in the other direction [from the pediatrician]. Hegave me the statistics about severity. He was optimisticfor Katie and told me I had to remember that all thesenumbers are only the people that come in for problems.My husband really latched on to that.”

Another parent said, “I called the NF Foundationand they gave me the name of a doctor, so I called overthere. I got to talk to a genetic counselor. She was won-derful. It was hard for me to even talk about it on thephone at that time. I told her my story up to that pointand she says, ‘I know you read these articles and it’salways the worst, but there’s just a whole lot to learnabout it that isn’t that bad.’ And it was just like, all ofa sudden, there were people out there who knew whatI was talking about. I mean, I think that the worst partof any of this is feeling so alone and not having anybodywho understands these things.”

REACTIONS OF MOTHERS AND FATHERS

Mothers typically were the only parent present whengiven the diagnosis and bore the emotional brunt of theinitial diagnosis, trying to digest what they had beentold by their physicians. Six mothers talked about theirhusbands’ unemotional responses, and four of these de-scribed husbands who continued to block out and denythe diagnosis and its potential for future problems.Said one mother bitterly, “My ex never asked any ques-tions, hardly ever went to a doctor’s appointment. Heand his family denied Jerry, like a black sheep. After

we divorced, he said he believed that Jerry was not hischild and wanted to have testing to check it out. I thinkit was because of Jerry’s NF.”

And another said, “He avoids everything aboutChuck’s NF. I can talk to him about it, but he tries toblock everything out. He doesn’t want to know aboutit.”

Yet, several other fathers disclosed their vulnerabili-ties by sensitively describing some of their reactionsand dilemmas from that early time. Said one father,“After the genetics conference we went to the hospitalcafeteria. There was a child there who was very badlydisfigured, extremely badly disfigured. That was hardbecause I was picturing that that was how it would bewith Sarah and I was thinking how it would be in pub-lic with her. That was just emotionally difficult. Thatchild I saw that day had to be fed; he was in a wheel-chair. I didn’t want Meg to see this other kid and Ididn’t want her to get triggered by my stuff.”

And another introspectively stated, “I felt a bit ofshame at his birth. It broke my bubble of the perfectchild, separated what Larry is from the way I am andwhat I wanted to be. I began to look at my own imper-fections. I looked at the difference between myself asperfect person, and what my son would be.”

COMPLICATING AND MITIGATING FACTORS

Several parents talked about other factors that exac-erbated or complicated the issues around the diagnosissuch as disagreements over having children, existingmarital discord, financial problems, or a previous ge-netically affected child. For example, said one couple,[Mother:] “When you have a newborn it is already ashock. It was my first baby and I was dealing with thishuge change in my life and then, on top of it, havingthis hard news. Now it’s like I know that nothing couldchange how much I love her. I would grieve if anythingwould happen to hurt her, but nothing would changehow I would feel about her. But when she’s 2 monthsold and you are still dealing with, ‘What have webrought into our lives?’ For any baby, even a normalhealthy baby, it’s like, ‘Oh my God, here’s this shock.’ ”[Father:] “And there was another complicating factorthat was in the background. That was that we as acouple were struggling with issues about having achild. For me, having a child was harder. I have twogrown children from my first marriage. And havinganother child was already a large compromise for me. Iam at a cycle in my life, too, where just having ahealthy child at times feels like, ‘Hey, I’m fifty-two. Iwant to read a book in peace, or go out for a walk. Idon’t want to change diapers. I’ve done that, I’ve put inmy time already.’ ”

In two cases the religious beliefs of parents signifi-cantly mitigated critical shock and negative response.These cases merit detailing. The first couple, theGreens, had an affected son in his late 20’s at the timeof interviewing. The Greens were well educated. Thefather held a doctorate degree in a health-related field,he was able to carry out extensive library research onNF1, and came up with what he considered to be a “nottoo serious” profile of expectations. The mother, also

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well educated, had received a bad health prognosisearly in her life, which had not materialized.

[How did you feel when you heard the doctor’s onlyother case of NF1 had died in adolescence?]

[Mother:] “I wasn’t worried because I was born witha heart defect and they told my parents that I wasgoing to die imminently and my life’s still here. Youcan’t believe what they say.”

[Father:] “I’m kind of a rationalist. People say thingsto me and I say that I am going to dedicate myself tothe subject and find out for myself. So I went up to theUniversity library and began researching it and I com-piled maybe a dozen articles from the journals on it,journals of genetic research and journals of neurology.I began to trace on my own. So I put together a pictureof some pretty grotesque looking people, but I haveresearched a lot and I am not going to be panicked.”

[Mother:] “Our [affected] son, Stephen, rises aboveworries. He is on a different plane. He, like we are, is aspiritual type of person. He accepts the NF as probablyone of the problems with this life. This is our religiousbelief that, someday, in another world, he is going tobecome perfected and he won’t have this baggage tocarry around. In the next world he will be free from it.”

[Father:] “It is the typical Mormon view that this lifeis the short time compared to eternity and we believe ineternal progression and this is just a preparation for amuch longer life.”

While the parents in the second family, the Heralds,had average education (high school and some commu-nity college), they had in common with the Greensstrong religious beliefs that included the certainty thatno matter what physical problems their child exhib-ited, she would be reborn into a hereafter that wouldfind her with a perfect body without pain for eternity.

Both the Greens and the Heralds talked at lengthabout the importance of this certainty for alleviatingtheir concerns about their child’s here and now presentand future physical problems.

DISCUSSION

While parents typically described shock at the dis-closure of their child’s condition, no matter the settingof the disclosure or how the issue was broached, theamount of shock and upset varied, partially in relationto the setting and nature of the interaction. Guidelinesfor sensitive and effective disclosure of bad news toparents emphasize systematic planning of setting andtiming. Yet, disclosures of the diagnosis of NF1 in thispopulation were made almost “helter-skelter.” In manycases, pediatricians noted the cafe-au-lait spots duringexaminations and made the diagnosis then and there.In several situations parents themselves forced the is-sue, coming to physicians who appeared to be as resis-tant and surprised at the diagnosis as were the par-ents.

Researchers have underscored the significance of thequality and content of information imparted to the par-ents as an integral factor affecting positive parentalresponse and acceptance of their child’s condition. Yet,

families typically stated they were given very little un-derstandable or absorbable information, often onlythat their child had The Elephant Man’s Disease.When clinicians provided reading materials (often withpictures of extreme cases) or suggested parents couldgo to the library or get materials from an NF organi-zation, the result was often more anxiety. This sug-gests that parents should initially be “walked through”reading materials rather than urged to read or gatherinformation on their own.

Mothers ordinarily were the only parent present, notallowing for them to benefit from spousal support. Incontrast to researchers’ universal suggestions for fol-low-up appointments, parents often were told abouttheir child’s condition without any follow-up referralsor recommendations. Parents felt adrift in their anxi-ety.

The overriding issues around the condition which ap-peared to dominate in disclosures were the extremeuncertainty of the condition’s course and prognosis,and the notoriety of the unfortunate misdiagnosis ofNF1 as The Elephant Man’s Disease. Before the redi-agnosis of The Elephant Man’s Disease, and even foryears after, physicians often made the associationwhen they talked with parents the first time abouttheir child’s condition. The greatest traumas occurredwhen this labeling was included with the initial diag-nosis.

A CONDITION WITHOUT PARAMETERS

The unpredictability of NF1 greatly contributed tothe burgeoning of fears. The most common parametersof many genetic conditions are well known even to laypersons, and clinicians are typically able to give par-ents some relatively clear expectations about theirchild’s prognosis and future life. However, the hetero-geneity of presentation of NF1, the enormous array ofpossible symptoms, and the inability of clinicians topredict the appearance or progression of these oftenfills parents with fear and anxiety. The anxiety createdby the knowledge of a seemingly limitless variety ofproblems that could arise is not able to be mitigated byany realistic perceptions of role models. For example,in my prior research with unaffected parents of chil-dren with skeletal dysplasias, although these parentsexperienced the same emotions such as shock, guilt,anger, or sorrow as have been reported for parents ofother types of physically different children, when theycould view and become acquainted with adults withdwarfism syndromes in the organization of LittlePeople of America and see that these were attractiveand productive persons with jobs, homes, and families,their own children could become normalized in theireyes. Once they could absorb this concept of theirchild’s dwarfism, they could start on a path of positiveacceptance [Ablon, 1984, 1988]. However, the param-eters of achondroplasia and other most common typesof dwarfism are fairly constant. Parents know whatthey could expect in their child’s development. WithNF1 there seem to be no parameters. Likewise thereare no widely known role models except The ElephantMan or the severely affected (but atypical) persons that

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have appeared on television programs. Both cursory ordetailed readings of much of the available literaturemay just imprint this reality of unpredictability andthe myriad possibilities of severe symptoms.

The great variability and unpredictability of NF1symptoms have created a condition without param-eters. The void resulting from the uncertainty aroundNF1 creates a context of potential high anxiety in par-ents. Within this context any statements that physi-cians make become sanctified and remembered longafter the initial intentions. This is unfortunate becausemany statements appear to have been matter of fact,and often intended as tentative. Nonetheless, thesestatements, and particularly extreme ones given withthe initial diagnosis, often have stayed with parents formany years after. Thus physicians often prematurelycreate their own parameters of horror. Since physiciansare often the bearers of bad news, it is especially im-portant to accomplish the task of disclosure effectively,yet gently.

Particularly helpful at this time would be the pre-sentation of a realistic context for expectation for themost frightening and rarer symptoms, for example, thechances of a child developing a brain tumor, or of achild becoming blind or deaf. Korf [1990, p. 23] hasstated, “the majority of affected individuals have few orno medical problems related to their condition.” Henotes that medical statistics “invariably overestimatethe rate of specific problems, especially the more severeones.” Parents who were referred to a geneticist or agenetic counselor found these specialists the most help-ful in putting the condition within more positive pa-rameters of understanding and expectation.

In those cases of negative accounts, while any of usmight raise questions about possible or even probablediscrepancies between what may have been said andwhat was intended and what was heard and what wasreported to me years after the fact, it is clear that what-ever was said, the communications that did occur werenot ideal. Parents often left in a state of anxiety andwith very little understanding of the condition or itsconsequences for their child. As one mother said, “She[the physician] may be the greatest clinical specialist,but she’s lacking in communication skills.”

Because of the unpredictability of NF1, parents maybe more sensitive to a physician’s every literal wordthan they are in cases of more benign or predictableconditions. Therefore physicians should be aware of thepotency of their statements and the particular need forclear and supportive communications. The greatest giftthe clinician can give is time — time for explanation,for the parents’ ventilation, and for answering ques-tions. Strictures imposed by contemporary managedcare guidelines doubtlessly make the giving of time in-creasingly more difficult, nonetheless such time consti-tutes a principal ingredient of adequate communica-tion and care, particularly in the case of a condition ascomplex and puzzling for parents as NF1.

Because parents may be so shocked at the initialdisclosure, they may not adequately be able to formu-late the many questions that may plague them duringthe following hours or days. The routine scheduling ofa follow-up appointment or referral to a geneticist or

specialist would allow them the opportunity to arrangefor a spouse, family member, or other support compan-ions to accompany them on this next visit. At that timeanswers to their questions may be more absorbable andhence useful for family understanding and planning.This visit should follow soon after the initial disclosure.Further, referral to NF clinics and to national or localNF organizations could significantly assist parentsthrough the benefits of access to local clinical expertsand to NF support groups for peer support and themost current information dispensed at local and re-gional medical conferences.

CONCLUSION

During the past decade increasing attention hasbeen paid to contextual issues surrounding disclosureof bad news to parents. The accounts presented by therespondents in this study confirm the significance of allof the issues raised in the literature. While the realitythat their child has a complex and unpredictable con-dition appears to be the chief determining factor inparents’ upset, their statements suggest that attentionto other factors such as the style and circumstances ofphysicians’ disclosures and the quality of the informa-tion are also of significant import. The suggestions pre-sented above could be formulated as specific hypoth-eses for testing to arrive at approaches for mitigatingparents’ initial painful early experiences and facilitat-ing their consequent adaptations to their child’s condi-tion.

ACKNOWLEDGMENTS

The research upon which this article is based wassupported by the National Science Foundation GrantNo. BNS8819633 and by an Academic Senate ResearchGrant from the University of California, San Francisco.

Portions of this article are reprinted from Ablon J.1999. Living With Genetic Disorder: The Impact ofNeurofibromatosis 1 (Auburn House, an imprint ofGreenwood Publishing Group, Inc., Westport, CT,1999). Copyright (©) 1999 by Joan Ablon. All rightsreserved.

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