American Journal of Medical Genetics 122A:100–107 (2003)

Experiences at the Time of Diagnosis of ParentsWho Have a Child With a Bone DysplasiaResulting in Short Stature

Victoria Hill,1,2,3 Margaret Sahhar,2,3 MaryAnne Aitken,1,2,3

Ravi Savarirayan,1,2,3 and Sylvia Metcalfe1,2,3*1Murdoch Childrens Research Institute, Melbourne, Victoria, Australia2Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia3Genetic Health Services Victoria, Melbourne, Victoria, Australia

Many studies have shown that, for familieswho are given the diagnosis of a disability,satisfaction with disclosure is an importantelement. Information given and the attitudesof the disclosing health professionals duringthis critical period have a significant effecton the coping and adaptation of the family.While most studies dealt with conditionsinvolving intellectual disability or cancer,this study was conducted to explore parents’experience of being told that their child hada condition, such as a bone dysplasia, thatwould result in significant short stature.Semistructured interviews were conductedwith 11 families who had children diagnosedwith a bone dysplasia, specifically, achon-droplasia (n¼9) and pseudoachondroplasia(n¼2). Families were recruited through theBone Dysplasia Clinic at the Royal Chil-dren’s Hospital, Victoria, Australia and viacontact with the Short Statured People’sAssociation of Victoria. Parents were askedabout how they were told of their child’sdiagnosis, how they would have preferred tohave been told, and what would have madethe experience less distressing for them.Transcripts of the interviews were analyzed,and major themes were identified relatingto the parents’ experiences. Our data suggestthat the manner in which the diagnosis isconveyed to the parents plays a significant

role in their adjustment and acceptance.Provision of written information relatingto the condition, possible medical comp-lications, positive outlook for their child’sfuture, and how to find social services andsupports were some of the most significantissues for the parents. The multidisciplinaryapproach of the Bone Dysplasia Clinic wasimportant to parents in the continued man-agement of the families. � 2003 Wiley-Liss, Inc.

KEY WORDS: achondroplasia; pseudoa-chondroplasia; short stature;bone dysplasia; parentalexperiences; disclosure

INTRODUCTION

It is recognized that the disclosure of a diagnosis of adisability or illness to a family can rarely be a positiveexperience for the family and the health professionalsinvolved [Buckman, 1984; Charlton, 1992; Sharp, 1992;Lubinsky, 1994; Ptacek and Eberhardt, 1996]. However,the process of disclosure can vary widely and haveimmediate and long-term effects on the family. Parents’anxiety levels and coping mechanisms can be greatlyaffected by the manner of the disclosing health profes-sional [Lubinsky, 1994], and it has been suggested thatthe way in which parents are told this news may affecttheir adaptation and adjustment to their child’s condi-tion [Quine and Pahl, 1987; Hasnat and Graves, 2000].The ability of a health care professional to emphasisepatient autonomy, and to acknowledge and respectemotions at the time of disclosure, can enable copingmechanisms in the patient [Lubinsky, 1994]. Engender-ing realistic hope for the future, by partializing thediagnosis, empowers people to develop new coping skillsand focus on positive goals [Briton, 2000]. Conversely,the health care professional who disregards emotionalreactions at the time of disclosure, risks dismissal by theparent with loss of their respect and trust, and mayinvoke their anger. These reactions may be caused by

Grant sponsor: Murdoch Childrens Research Institute ThemeGrant; Grant number: 101.

*Correspondence to: Dr. Sylvia Metcalfe, Genetics EducationUnit, Murdoch Childrens Research Institute, Royal Children’sHospital, Flemington Road, Parkville, Victoria 3052, Australia.E-mail: sylviaam@unimelb.edu.au

Received 18 October 2002; Accepted 18 February 2003

DOI 10.1002/ajmg.a.20201

� 2003 Wiley-Liss, Inc.

the process of disclosure, rather than the bad news perse [Sharp, 1992; Lubinsky, 1994]. Many studies havefocused on the process of ‘breaking bad news’ for con-ditions such as cancer in children and adults [Eden et al.,1994; Sloper, 1996; Levi et al., 2000; Parker et al., 2001],and conditions that are diagnosed in newborns andinfants that have intellectual disability as a signi-ficant component [Quine and Pahl, 1986, 1987; Sloperand Turner, 1993; Quine and Rutter, 1994; Hasnat andGraves, 2000]. These studies have examined the levelsand the determinants of parental satisfaction with thedisclosure of their child’s disability, and have recom-mended ways of improving communication betweenhealth care professionals and families at this time[Quine and Pahl, 1986, 1987; Sloper and Turner, 1993;Hasnat and Graves, 2000]. Cunningham et al. [1984]showed that dissatisfaction with disclosure of dis-ability was not inevitable by evaluating a ‘model’ pro-cedure for disclosing the diagnosis of Down syndrome.In Australia, consensus guidelines for clinicians re-garding ‘breaking bad news’ were developed in 1992through collaboration between the New South WalesCancer Council and the Postgraduate Medical Coun-cil. This collaboration produced an interactional skillspackage on conveying poor prognoses dealing specifi-cally with cancer diagnoses [Girgis and Sanson-Fisher,1998].

However, little has been reported on the process ofdisclosure and the impact of diagnosis of a condition forwhich short stature is the major feature. Short statureis defined clinically a person whose maximum adultheight is 401000 (145 cm) and under. Short stature is acharacteristic of many bone dysplasias, with achondro-plasia being the most common. Whilst the medicalaspects of bone dysplasias have been described exten-sively, only one other published study has reported theexperiences of parents who have a child with a bonedysplasia regarding the counseling offered to them andtheir reactions to this [Stace and Danks, 1981]. Thisstudy dealt with quite a wide range of bone dysplasiasthat result in short stature. Other studies have beenconducted that focused specifically on the individualwith short stature, and on their adjusting and copingmechanisms used to function in a world where they maybe subject to discrimination and stigmatization becauseof their size [Ablon, 1990; Hunter, 1998].

The present qualitative study was carried out toexplore in depth parents’ experiences and perceptionsof being told their child had been diagnosed with abone dysplasia, specifically achondroplasia and pseu-doachondroplasia, resulting in short stature. The pre-vious study by Stace and Danks [1981] precededrecommended guidelines for breaking bad news, whilstthe present study focuses on disclosures made in morerecent years and on the process of disclosure from theparent’s perspectives, particularly in terms of howthe news was delivered. Furthermore, parents’ storieswere explored with the specific aim of discovering whatwould make the experience less distressing for thefamilies, thereby informing health professionals aboutthis process and in providing suggestions for the de-velopment of information packs.

MATERIALS AND METHODS

Participants in this study were recruited through theBone Dysplasia Clinic at the Royal Children’s Hospital,Victoria, Australia and via contact with the ShortStatured People’s Association (SSPA) of Victoria. Thecriteria for eligibility to participate in the study werethat (1) the parents were of average stature themselves(i.e., not affected by a bone dysplasia), (2) the child wasaged 16-years-old or younger and living, and (3) theparents were fluent in English. Twenty-four eligiblefamilies were identified and contacted to participate inthe study.

Ethics approval was obtained from the Royal Chil-dren’s Hospital and at the University of Melbourne.Pseudonyms are used in all references to the partici-pants. Since the purpose of the study was to explore anddocument parents’ experiences in detail, a qualitativeresearch approach was taken. The methodology wasbased on the theoretical framework of phenomenology,as this is the qualitative research theory that bestanswers the question ‘‘What is the experience of beingtold your child has a bone dysplasia (i.e., the phenom-enon)?,’’ for these participants. Furthermore, the per-ceptions of the families were of interest in this studyrather than how the diagnosis was delivered from theheath-care professional’s perspective.

A single investigator (VH) conducted all semi-structured interviews. During the interviews broadopen-ended questions, such as ‘‘Would you tell me abouthow you first learnt of your child’s diagnosis?,’’ wereused to allow parents to tell their story, and to raise andreflect upon the issues that they felt were important tothem. This was then followed by more detailed questionsabout the events and follow-up of the parents’ responses.Parents were asked to relate how they were told of theirchild’s diagnosis, who told them, where they were told,and what effect that had on them and their families.Parents were also asked about how they would havepreferred to be told and what would have made theexperience less distressing. Of particular interest wasthe role of information in making the experience lessdistressing for the families.

All interviews were audio-taped and transcribed.Analysis of the transcripts was completed using a tech-nique called content analysis. The data were importedinto a qualitative research software package called QSRNvivo (Qualitative Solutions and Research Interna-tional Pty Ltd., Australia). This software allowed theauthors to systematically identify and code the themesrelated to the research question running through each ofthe transcripts.

RESULTS

Participant Demographics

Of the 24 eligible families contacted, 11 agreed toparticipate in the study. The other 13 families did notrespond even after a second letter was sent out. Eleveninterviews took place involving 17 parents. In six of theinterviews, both parents attended and in each case theparents were still married to each other. In the other five

Experiences With Disclosure of Short Stature 101

interviews, only the mother attended; the fathers werenot able to make the interview in two cases; the parentswere either separated/divorced in another two casesand in one family the father was deceased. The majorityof parents had completed year 11 of secondary school.Three parents had gone on to complete various forms oftertiary education. Six of the families lived in regional/rural Victoria and five lived in the outer suburbs ofMelbourne. Of the 11 children in the study, nine hadachondroplasia and two had pseudoachondroplasia.Three of the children were female and eight weremale. The children with achondroplasia were all di-agnosed within the first 5 months after birth (6 hr–17weeks). The two children with pseudoachondroplasiawere diagnosed at 18 months of age. See Table I fordetails.

Parents’ Experiences

All of the parents felt they had been told the diagnosis‘‘badly,’’ and all had recommendations for conveying thediagnosis. A number of themes emerged from theinterviews, which were common to many of the families.

When parents were told the diagnosis, they experi-enced a wide range of emotions: sadness, devastation,shock, rejection, denial, worry, anger, uncertainty, guilt,and unfairness. These emotions fluctuated often: fromminute to minute, hour-by-hour, and day-by-day.

. . . it’s like a seesaw of emotions, I was really sadand broken-hearted and then I was feeling it willbe all right, it’d be fine, and I could cope all right.

And then 5 min later, I’d be no it won’t and thesadness would take over . . . it kept going up anddown constantly for a long long long long time(Barbara).

I was on a real high and I think I was on a realhigh because I’d given birth to a baby and it wasan amazing experience even though it was acaesarian. But at the same time I was definitely inshock over . . . . the fact that there was somethingwrong. . . . it’s just hard when you have a baby, theenormity of it all just hits you, so it was all thosethings combined . . . I was just feeling over-whelmed, and I was really high with elation andthen the next minute I was bursting into tears(Edith).

Most parents stated that it was important for themto hear that they weren’t to blame for their child’s bonedysplasia; that it wasn’t caused by something they haddone, or not done during the pregnancy. Parents didwant to know how it had occurred, especially as most ofthe parents did not think it was possible for average-statured parents to have children with short stature.

Location at Time of Disclosure

Parents felt that the location setting at the time ofdisclosure was important. Five families were told inthe hospital, four families were told in their doctor’soffice (see Results Disclosing Doctor), and two familieswere told over the phone. Privacy and the presence of a

TABLE I. Participant Demographics

Pseudonym Age LocationMaritalstatus

Educationlevel Child Age Condition

Age atdiagnosis

Amanda 42 Country Widow Tertiary Alice 11 Achondroplasia 17 weeks (suspectedprenatally)

Adama

Barbara 40 Country Married Secondary Barry 5 Achondroplasia 4 daysBob 43 Country Married SecondaryCharlene 45 Country Divorced Secondary Clark 12 Achondroplasia Suspected and confirmed

prenatallyCharlesa

Denise 41 City suburb Separated Secondary Danny 11 Achondroplasia 2 daysDavea

Edith 35 City suburb Married Secondary Elizabeth 3 Achondroplasia 6 hrEdgara

Faith 42 City suburb Married Tertiary Felicity 13 Achondroplasia 3 weeksFred 44 City suburb Married TertiaryGail 37 Country Married Secondary Gavin 6 Pseudo achondroplasia 18 monthsGary 37 Country Married SecondaryHeather 45 City suburb Married Secondary Heath 16 Pseudo achondroplasia 18 monthsHarry 50 City suburb Married SecondaryIsabel 39 Country Married Secondaryb Ivan 7 Achondroplasia 2 daysIsaac 40 Country Married SecondaryJane 35 Country Married Secondary Jacob 9 Achondroplasia 3 days (suspected

prenatally)Jim 37 Country Married Secondaryb

Kim 42 City suburb Married Secondary Keith 8 Achondroplasia 6 weeksKevina

Parents’ pseudonyms are listed alphabetically in chronological order of interview, with each couple and their child allocated a pseudonym starting with thesame letter of the alphabet.aParent not interviewed.bLevel of education not completed.

102 Hill et al.

support person were very important to families duringthe disclosure process.

I was really more upset about what we had todeal with and what the doctor was telling us, tome that time was very private and this completestranger [patient in adjoining bed] was listeningto everything that was happening and we didn’thave a chance to tell the rest of our familymembers and friends, but this stranger knew. Iwas very upset about that (Barbara).

Disclosing Doctor

The process of telling a family about the diagnosisseemed to happen in stages. There was the initialdiscussion about the possibility of the bone dysplasia,another meeting to confirm the diagnosis, and thenpossibly another meeting to discuss what the diagnosismeant for the child and the family. The majority ofparents were told about their child’s diagnosis by apediatrician. However general practitioners, gynecolo-gists, a geneticist, and an orthopedic surgeon also playeda role in the disclosure process for some families.

Doctor’s Manner and Language

Some parents reported that the disclosing doctorswere quite blunt when telling them their child’s diag-nosis, with many parents saying that the doctor had no‘bedside manner.’

. . . she [pediatrician] came in and said, reallyabruptly, there is something wrong with yourbaby, something wrong with its bones, and we justburst into tears. And I said, is it because I didn’tdrink enough milk . . . is there something wrongwith her calcium. And she said no no, it’s justsome bone dysplasia problem, and that was it, shejust took off. And we were devastated and that ishow we were left hanging (Edith).

Many of the doctors used medical terms, scientificnames, and euphemisms, without much explanation.This did not help parents’ understanding; on thecontrary, it usually hindered their comprehension ofthe situation. Many families commented that thecontact with the disclosing doctor was very brief,rather abrupt, and provided little opportunity to askquestions.

We had the name achondroplasia, the word, butit wasn’t explained to us (Faith).

He [geneticist] just told me that Danny hadachondroplasia and that was just another lan-guage, I didn’t understand what that was and hewas saying, you know like a dwarf, like SnowWhite, and the Seven Dwarfs . . . . And after thatit was like thanks mam, see ya later, and he didgive me some literature, and it was just soshocking . . . . It was horrible, nothing nice aboutit at all. Straight to the point, blunt as that and offyou go (Denise).

Information Received

The majority of the disclosing doctors had little, if any,knowledge about the condition or had ever seen, letalone treated, someone with achondroplasia or pseu-doachondroplasia. In some cases, doctors didn’t haveany up to date information and were using very old booksas references material that contained incorrect, out ofdate information. Consequently, parents received con-fusing and misleading information.

. . . . he said to me ‘how tall are you?’ and I said‘I’m 50400, and he said ‘well she has a very milddose, so she’ll be about 50 (Faith).

Some parents found the written information providedwas too technical and difficult to understand; theyweren’t able to absorb it and found it somewhatoverwhelming.

It was helpful umm but it was too in depth. . . . itwas more like a couple of pages out of anencyclopedia that they gave me . . . . There wasall this jargon that I didn’t understand. I meanjust a small brochure with the basics would havebeen ample (Denise).

Some parents were shown pictures of children andadults with achondroplasia and pseudoachondroplasiawhen the diagnosis was confirmed. Some of thesepictures were very clinical and impersonal, i.e., did notshow individuals in natural poses and settings. All of theparents found these pictures to be very confrontingespecially as they were not given any warning.

. . . looking at this book and I saw a drawnpicture of a child like Barry, and I’d say he wouldhave been say 4- or 5-years-old. And I went ahhthat’s what my son’s going to look like. And I justcried and cried (Barbara).

Many parents found other sources of information tohelp them to try and understand more about the medicalside of the bone dysplasia and the emotional and socialaspects of having a child with short stature. Friends andother family members helped the parents in their searchfor relevant information. They used the library, maga-zines, newspapers, and the Internet. Many parents alsofound the SSPA support group a good source of in-formation and support. Two families were comfortablewith the amount of information they were receivingfrom the doctors and did not search for more.

Other Factors

In the time following the diagnosis, there were manyissues that confronted new parents, their family, andfriends. They found this time to be overwhelming, bothemotionally and socially.

Parents had to deal with the impact of a new diagnosisas well as the immediate medical implications of thiscondition (e.g., the need for two monthly ultrasoundinvestigation of the head to screen for hydrocephalus).

Experiences With Disclosure of Short Stature 103

Parents also grappled with the perceptions of societyand how society would treat them and their child andthe images in the media and popular press of people withshort stature. Often, this image portrayed in the mediawas their only view of a person with short stature.

Many parents also reported that they felt as if theyhad missed out on the joy of having a new baby, becauseof the diagnosis and how they felt about it and also howother people treated them.

I miss terribly him being a baby . . . . Trying todeal with his condition and come to terms with mygrief I suppose, my emotions. And looking afteranother child and all those factors, not gettingenough information and not talking to anyone, allthese factors created a shocking situation. And Imissed, I really missed him being a baby ’cause Icouldn’t enjoy it as much (Barbara).

A few parents also wished that they had been toldabout how they might have been affected emotionally.Some mothers had postnatal depression, and a few feltas if they were grieving the loss of a ‘normal’ child. Mostmothers did not feel that they had enough emotionalsupport at this time.

Bone Dysplasia Clinic

The Bone Dysplasia Clinic, based at the RoyalChildren’s Hospital in Melbourne, was established in1977 and has been restructured over time. It now com-prises a multidisciplinary team of geneticists, orthope-dic surgeons, social workers, and genetic counselors. Inaddition, clinics are also held in other metropolitanhospitals and in regional and rural Victoria where ageneticist and a genetic counselor meet with families.

All parents attended the Bone Dysplasia Clinic, mostwithin the first 6 months after initial disclosure,although not all were referred by the disclosing doctor.During the time between diagnosis and attendance,many parents felt that they had inadequate informationprovided to them. The time between receiving thediagnosis and seeing a geneticist either in the countryor at the Bone Dysplasia Clinic in Melbourne rangedfrom 1 week to 4 months. This does not seem to be relat-ed to the year of diagnosis, i.e., families that werediagnosed in more recent times did not see a geneticistsooner than those families whose children were diag-nosed in previous years. The length of time before thefamilies’ next appointment at the Bone Dysplasia Clinicalso varied.

All the parents generally made positive commentsabout the multidisciplinary team at the clinic, particu-larly how convenient and helpful it was to be able to seethe necessary specialists at the same appointment.However, there were still some issues raised about thenature of the language used and the information givenby individual doctors in the Bone Dysplasia Clinic. Themajority of parents who had contact with the socialworker at the Bone Dysplasia Clinic found this service tobe an essential part of the multidisciplinary team, withsome parents commenting that they would prefer more

contact with the social worker as they felt it was veryimportant to have this support.

Parental Preferences

All of the parents had suggestions for how to make thetime of diagnosis less distressful. They had preferencesfor how they could/should have been told and also pre-ferences for the information they could/should havereceived. They had an appreciation that a set way ofdelivering the diagnosis would not be possible and thatthe optimal approach is to individualize the disclosureprocess to best meet the needs of the family involved.They suggested that the doctor should ascertain fromthe family the detail and amount of information theywould like to receive, and to continually reassess theparent’s needs as they may change over time.

The most common concerns for parents upon learningabout their child’s diagnosis were: (1) that their childwould have a normal lifespan; (2) whether their childwould be affected intellectually; (3) the expected adultheight of their child; (4) that they didn’t do anythingduring their pregnancy to cause this to happen; (5)that their child could lead a happy, healthy, and in-dependent life.

DISCUSSION

This study provides a rich source of data regardingthe experiences of parents at the time of diagnosis ofshort stature, however there are limitations. Out of 24eligible families, only 11 chose to participate in thestudy. Of the 11 interviews, 6 included both parents.This may have influenced the ability of each parent totell his or her own story. The numbers are small andthere is a self-selection bias. Nine out of the 11 familieswere also members of the SSPA support group. There-fore, those interviewed may have had different experi-ences to non-participants. It is possible that non-participants may not have found the experience distres-sing or perhaps been too distressed to tell their story andhence not chosen to be interviewed.

All the families who participated in this study werekeen to discuss and share their experiences. Theirrecollections of disclosure of the diagnosis in theirchildren were very strong despite the length of time(in some instances) since the event occurred. The abilityto recall this experience has been referred to as ‘‘flashbulb memories’’: vivid, immediate, and clear; and mem-ories such as these are as close to immediate recall asmemory can be [Quine and Rutter, 1994]. Many of thefamilies had similar experiences and it was clear thatthe same themes were emerging from each interview,indicating a saturation point had been reached and thatthe sample size was appropriate [Lincoln and Guba,1985; Rice and Ezzy, 2000].

All of the parents found the diagnosis to be quitea shock, and none had, understandably, consideredthe possibility of having a child with short stature.Other studies have described this time as a crisiswhich induces a grief response, which can be follow-ed by phases similar to bereavement, such as shock,

104 Hill et al.

disbelief, denial, anger, adaptation, and adjustment[Gath, 1985; Quine and Pahl, 1987, Quine and Rutter,1994]. The families in this study experienced all of theseemotions.

The data from this study suggest: (1) the manner ofthe disclosure is vividly remembered and influencesparent perceptions and relationship with the treatingprofessionals [Charlton, 1992; Sharp, 1992]; (2) relevantinformation given in a sensitive, empathic manner,checking the parents’ understanding and emotionalreactions, may make the time of diagnosis a less stress-ful time [Fallowfield, 1993]; (3) specific types of infor-mation are more helpful than others [Sharp, 1992]; and(4) there is a need for prompt follow-up appointmentsafter the initial disclosure to reinforce information,answer further questions, and to assess how the familyis coping, as they may remember only fragments of theinitial disclosure [Charlton, 1992]. We conclude thatsome of the significant issues for the parents werepossible medical complications [Lubinsky, 1994], posi-tive outlook for their child’s future [Charlton, 1992;Briton, 2000], how to find social services and supportsand, importantly, the provision of appropriate writtenmaterial relating to the condition [Charlton, 1992]. Allparents valued an individualized approach and resent-ed the health care professionals who conveyed thediagnosis in what they perceived to be an uncaringmanner [Charlton, 1992; Ptacek and Eberhardt, 1996].Our data support past studies, which indicated thatparents are able to distinguish between their ownnegative reactions at the time of disclosure and themanner of the disclosing health care professional[Cunningham et al., 1984].

From these data, we have made suggestions forthe production of information packs to be provided tofamilies and health care professionals providing re-levant information about the child’s condition, and also

for the production of a leaflet for health care profes-sionals on how to make disclosure of diagnosis lessdistressing for families (see Table II). Many of thesesuggestions would also be relevant for the develop-ment of information packs for disclosure of diagnosisfor many other conditions. It was clear also, from thisstudy, that a multidisciplinary approach, such as foundin the Bone Dysplasia Clinic, was seen as a positiveexperience for these families, and that early referral tosuch a clinic was important. Even in smaller centersthat may not have ready or immediate access to suchservices, we believe that a multidisciplinary approachcould significantly improve the initial experiences offamilies at this challenging time [Ptacek and Eberhardt,1996].

Has the process of disclosure changed over time?Our data would seem to suggest that there has beenlittle change, if any, to this process, at least for disclosureof short stature in this Australian community. Familiesin our study revealed similar experiences to thosedescribed by Stace and Danks in 1981. Furthermore,in the present study, whether the disclosing doctor waslocated in a metropolitan or rural setting, or appearedto be more experienced, had little bearing on the out-come of the process of disclosure. Rather, the natureof the experience depended more on the manner andattitude of the disclosing doctor. The data collectedhere also suggest that health care professionals mayunderestimate the potential impact of the diagnosis ofa bone dysplasia that will result in short stature onfamilies, even though these conditions are non-lethaland not associated with intellectual disability. The pre-ferences stated by the participants in this study closelyfollowed the guidelines suggested by Girgis and Sanson-Fisher [1998]. These authors state that the guidelinesthey have developed ‘‘can act as a guide for helping toease, as much as possible, a situation that most patients

TABLE II. Suggestions for Development of Information Packs for Disclosure of Diagnosis of Bone Dysplasia Resulting in Short Stature

Information pack for parents^ General information about the condition that is written in a clear and easy to understand manner^ A few of the more common complications associated with the condition over the child’s life^ Contact information for a social worker or counselor^ Parents frequently asked questions^ How and where to get more information^ Support group information^ Social services and benefits families may be entitled to^ Fact sheets providing more detailed information about the condition over the child’s developmental stages^ Information about the social aspects of the condition^ Information about the various emotions families may be going through and mention of the grieving process^ Summaries of other parents’ experiences, suggested coping strategies from parents with children at various ages, summaries from

adults with short stature about their livesInformation pack for healthcare professionals^ Information about the condition^ Signs of complications and things to monitor as the child gets older^ A growth chart specifically designed for children with the condition^ Information about the social and emotional aspects of the condition^ Contact information for support groups, social workers, counselors, and the Bone Dysplasia Clinic^ Information on how to improve communication skills and increase awareness of the impact of language and presentation^ Leaflet on disclosure process:

. When, where, and how are the best ways to deliver the diagnosis

. What type of information do the parents want at this time, e.g., very specific information or a general overview of the condition

. The importance of individualizing the disclosure interview

. The need to have a social worker or counselor immediately available to the family after, or even during, the disclosure interview

Experiences With Disclosure of Short Stature 105

experience as distressing and upsetting. The prin-ciples can remind doctors and nurses of the importanceof attending to the patients’ emotional state, in additionto providing information about their medical condition’’[Girgis and Sanson-Fisher, 1998]. It may be that prac-ticing health professionals are not aware of these, orearlier, guidelines, as was found by Turner and Sloper[1992], or that there is awareness, but other factorsact as barriers to their implementation [Campbelland Sanson-Fisher, 1998; Hasnat and Graves, 2000;Dosanjh et al., 2001]. Certainly, current training pro-grams place greater emphasis on good communicationskills and an empathic approach, both in universitymedical curricula [Elliott, personal communication;Winefield and Chur-Hansen, 2000; Humphris andKaney, 2001; Laidlaw et al., 2002], and in postgraduatetraining [White, personal communication; Hulsmanet al., 1999; Hulsman et al., 2002]. It is too early to saywhether this has yet influenced practice, however,research has shown that training in communicationskills has a positive effect on the actual behaviors indaily practice of health care professionals [Hulsmanet al., 1999]. Hence, with continued education andincreased awareness of ‘good practice’ for breaking badnews, levels of additional distress imposed on families byhealth care professionals may be minimalized.

This qualitative study has provided an insight intothese families’ experiences over the timeframe studied.The authors acknowledge that the parents’ percep-tions may not accurately reflect the actual unfoldingof events at the time of disclosure; nevertheless it isthese perceptions that we wished to explore. To assesswhether the introduction of guidelines for breakingbad news in a pediatric setting are effective, furtherstudies need to be conducted, including, possibly, pro-spective observational studies of the disclosure pro-cess. It is important to be aware that there are otherfactors, which may influence parents’ reactions andfeelings when receiving bad news, such as familydynamics, ethnicity, culture, religion etc. Ptacek andEberhardt [1996] state that it is ‘‘unclear which ofthe personal, interpersonal, news-specific, situation-specific, and transmisson-specific variables are moreimportant predictors of giver or receiver reactions.’’These authors also state that, although there is a lotof literature on breaking bad news, there is little empi-rical evidence to substantiate the guidelines. Morelongitudinal studies that are larger, and set in a broadercontext, need to be conducted looking at the practice ofdisclosure of disability.

One of the most challenging tasks for a health careprofessional is to give someone difficult or ‘‘bad’’ news,and undoubtedly some health care professionals willdo this well. Many may have developed their own stra-tegies for disclosing bad news. However, these stra-tegies may not always be in the best interest of thepeople receiving the news. Continuing education pro-grams, such as workshops similar to that described byFarrell et al. [2001] need to be implemented to increasethe awareness of health care professionals to the re-commendations of good practice for breaking bad news,which will, in turn, facilitate the disclosure process.

ACKNOWLEDGMENTS

The authors thank all of the families involved in thestudy for taking the time to share their personalexperiences. Thanks also to the staff of the BoneDysplasia Clinic, Genetic Health Services Victoria,and the Short Statured People of Australia for theirhelp in recruiting families.

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