Pediatric Pulmonology 50:503–510 (2015)
Ethical Considerations With the Management of Congenital Central Hypoventilation Syndrome John Massie, MBBS FRACPPhD,1,2,3,4* and Lynn Gillam,
BA, MA, PhD
2,3,4
Summary. Congenital central hypoventilation syndrome (CCHS) is a well-recognized disorder of the autonomic nervous system caused by mutations in the PHOX2B gene. The most characteristic feature is failure of ventilatory control, resulting in the need for respiratory support while asleep, and in some cases when awake also. Most cases present in infancy or early childhood. Technological advances allow patients with mild to moderate phenotypesto receive adequate support by non-invasive ventilation (NIV), or diaphragm pacing (or combination of the two) avoiding the need for long-term ventilation by tracheostomy. Daytime functioning of patients with CCHS who require sleep-time ventilation only is expected to be good, with some additional surveillance to ensure they don’t accidentally fall asleep without respiratory support available. Some children with CCHS have other complications, such as Hirschprung’s disease, learning difficulties, and cardiac arrhythmias (leading in some instances to heart block and the requirement for a pacemaker). In a few cases, patients can develop neurogenic malignancies. Parents bear a significant burden for the care of their child with CCHS including provision of NIV at home, close monitoring, and regular surveillance for complications. Information about patients with CCHS comes from databases in the United States and Europe, but these don’t include infants or children for whom ventilator support was not offered. In this paper we use a case study to explore the ethical issues of provision of treatment, or non-treatment, of children with CCHS. Pediatr Pulmonol. 2015;50:503–510. ß 2014 Wiley Periodicals, Inc. Key words: congenital central hypoventilation syndrome; ethics. Funding source: none reported.
INTRODUCTION
Congenital central hypoventilation syndrome (CCHS) was first described in the 1970s and is a clinical condition of autonomic nervous system dysfunction, the most recognizable component being poor regulation of respiration during sleep.1 There are now many hundred of patients recognized with this condition.2,3 CCHS is caused by mutations in the paired-like homeobox 2B (PHOX2B) gene, which functions as a transcription factor for the development of the autonomic nervous system.4,5 From a respiratory perspective, there is poor ventilatory response to arterial levels of oxygen and carbon dioxide resulting in a poor drive to breath, most marked when asleep. This may also manifest in wakefulness with a poor ventilation response to exercise and respiratory tract infections. Other, common autonomic associations include Hirschprung’s disease (absent autonomic ganglia in the gut) and disorders of cardiovascular regulation (cardiac arrhythmias). Some patients develop neurogenic tumors. There is some genotype–phenotype correlation, and classically patients present at birth or early in infancy. Later childhood, or even adulthood presentations have been described. A detailed scientific and clinical review has been published recently.6 ß 2014 Wiley Periodicals, Inc.
The treatment of CCHS is by mechanical ventilation at the times of ventilation insufficiency (classically asleep, but in some cases while awake too) and management of other associated abnormalities if present, such as cardiac pacing for arrhythmias and gut resection for Hirschprung’s disease. 1 Department of Respiratory Medicine, Royal Children’s Hospital, Victoria, Australia. 2
Murdoch Childrens Research Institute, Victoria, Australia.
3
Department of Paediatrics, University of Melbourne, Victoria, Australia.
4
Children’s Bioethics Centre, Royal Children’s Hospital, Victoria, Australia.
Both authors contributed equally to the preparation of the manuscript. Conflict of interest: None.
Correspondence to: Associate Professor John Massie Department of Respiratory Medicine, Royal Children’s Hospital Flemington Road. Parkville. Victoria. E-mail: [email protected] Received 25 February 2014; Accepted 17 June 2014. DOI 10.1002/ppul.23097 Published online 5 September 2014 in Wiley Online Library (wileyonlinelibrary.com).
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Those at risk of neurogenic tumors require regular surveillance. Detailed management guidelines for CCHS have been recently published by the American Thoracic Society.7 The ability to manage patients with CCHS by prolonged mechanical support has been made easier in the last 20 years by the development of non-invasive ventilation (NIV), which is suitable for patients requiring support only while asleep (or for limited periods in the day, for example with respiratory tract infections). For those requiring diurnal ventilatory support, this can be achieved by ventilation through a tracheostomy or diaphragm pacing. The current literature, based on database reports from the United States and Europe, describes many hundreds of patients receiving ventilatory support, the majority by NIV.2,3 The outcomes may be variable in terms of morbidity and mortality. This is, in part, explained by inadequate ventilatory support in the first few years of life (or perhaps delay until diagnosis and initiation of ventilation), poor adherence with ventilation support, and the later development of non-ventilatory complications (cardiac arrythmias, neurogenic tumors or other autonomic nervous system dysfunction). PHOX2B may have some primary role in development of neurocognitive function.8 The available data does not include patients who were not actively treated after recognition of the diagnosis of CCHS. CCHS provides an unusual insight into medical decision-making around long-term ventilator support of children as the organ damage or disabilities associated with the usual situations of long-term ventilation use are stripped away. We could not find discussion relating to the ethical issues of treatment (or non-treatment) of CCHS in the literature. The aim of this paper is to present a case of CCHS and discuss the ethical issues of treatment or nontreatment. The case details and parent responses are drawn from a number of different cases, put together as a single case in order to explore the ethical issues thoroughly. We deal with the most common clinical situation of a child requiring ventilation while asleep. SYNOPSIS
A term baby with respiratory insufficiency while asleep presented at 6 hr of age. The diagnosis was established at 8 weeks of age based on clinical features, with confirmation by genotype. There were no other features of autonomic dysfunction. The family had some difficult social circumstances and doubted their ability to care for the child at home. They also questioned whether the life of this child, requiring ventilation while asleep and close medical supervision, would be worthwhile. ETHICAL QUESTION
How should doctors respond if parents elect not to continue active ventilatory treatment and allow their baby to die? Pediatric Pulmonology
CASE Medical
Baby H was born at term following an uneventful pregnancy. At birth Baby H was noted to be vigorous with Apgar scores of 8 and 9. There were no dysmorphic features. At 6 hr of age Baby H was noted to be pale and cyanosed and resuscitation was commenced. He responded to bag and mask ventilation was intubated by the retrieval team and transferred to neonatal intensive care. After extensive investigation it was determined that Baby H had CCHS and needed ventilation when asleep. There was no evidence of associated Hirschprung’s disease. Brain MRI was normal. Baby H had mutations in the PHOX2B gene (alanine repeat expansion number 20/26), confirming the diagnosis. Social
His mother was a healthy, 30 year old living in a defacto relationship with her partner of 10 years. Neither parent worked. There were two older siblings aged 4 and 2 years of age. The family lived in a rural town, 2 hr from the nearest local hospital and 4 hr from a tertiary paediatric hospital. Neither parent expressed religious beliefs. Prognosis
Baby H would require ventilation while asleep for his entire life. Because of the difficulty ensuring adequate ventilation with NIV methods in the first 1–2 years of life, many babies with CCHS are routinely managed with a tracheostomy and ventilation.7 Some units have reported success with NIV from the beginning, so that it may be possible to move from the current endotracheal tube and try non-invasive ventilation.9 It is possible that a combination of devices may be selected, a negative pressure device (infant port-a-lung or cuirass) and face mask bi-level ventilation. The first risk of non-invasive support is inadequate ventilation which may result in recurrent chest infections, atelectasis and in the longterm pulmonary hypertension, and perhaps developmental delay. If non-invasive support was inadequate, it would be possible to switch to tracheostomy ventilation and try later to re-establish non-invasive support. Other complications of mask ventilation can be localized trauma to the skin of the face (temporary) and longer term, mid-facial hypoplasia (surgically correctable). Another option for ventilation is diaphragm pacing, which is particularly suited to the child requiring awake ventilator support in addition to sleep time. It would be likely that Baby H would have to remain in the hospital for the first 3–6 months of life, but with the intention that the parents would be trained to care for him, including his ventilator care. Once confident they could manage him,
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he could be looked after at home. He would need monitoring while asleep with an oximeter and an awake carer seven nights a week. Finding carers who live in their area could prove difficult, and delay transition to home. Funding arrangements vary between health services, but in Australia the child would be provided with a ventilator (and spare) with battery to allow trips away from home. There would be some out of pocket expenses for disposable items. In Australia, one of the parents could be designated the full time carer and receive a carer’s payment. Baby H would need regular assessment at the tertiary hospital, including overnight sleep studies annually. If Baby H fell asleep without being ventilated, he would probably die. When awake, Baby H would be like any other baby and, with adequate ventilation while asleep, it is expected his development would be normal. Often ventilation responses are not normal awake, and particularly with inter-current illnesses, such as respiratory tract infections, he may require awake ventilation. There are some other associations with CCHS. It is part of a broader disorder of autonomic nervous system regulation. The most common serious one is Hirschprung’s disease (an absence of nerve ganglia in the gut), which he does not have. Patients require cardiovascular monitoring regularly, and 25% of patients with the PHOX2B 20/26 mutation require pacemakers at some stage.6 Individuals with CCHS are said to have a characteristic facial appearance, but this is subtle and most would not be recognized as dysmorphic.10 Some patients (with longer alanine repeat sequence mutations) are at risk of developing neural crest tumors, but this would not be the case for baby H. 6 Parent’s Response
The parents considered all this information and were unsure whether they could manage Baby H at home or that a life dependent on mechanical ventilation was worthwhile. The parents expressed concern about prolonged hospitalization, ventilation, possibility of tracheostomy and possible later pacemaker, uncertain future, long distance from the hospital (either to visit, stay to learn care and support Baby H), and concerns on the impact on the siblings and their own future life. DISCUSSION OF ETHICAL ISSUES
The response of baby H’s parents raises two ethical questions. (1). Is it ethically appropriate not to treat because the parents feel they couldn’t cope with providing necessary care? (2). Is it really in the best interest of baby H to keep him alive? We will consider these two questions in turn, in the order raised by the parents. We will discuss these in turn and then consider the important question of who gets to make the decision.
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Is it Ethically Appropriate Not to Treat When the Parents Feel They Couldn’t Cope With Providing Necessary Care?
If this was a straight-forward question of the parent’s inability to care for the child at home in the face of difficult social circumstances then the answer would be “no”, it is not appropriate to let baby H die. There are alternatives for care of baby H. He could remain in the care of the hospital until a suitable foster family could be found, and permanent adoption arranged. While this is not a common scenario, structures are in place to manage such cases, even when there are “high” levels of medical care required. It is usually possible for the birth family to maintain some contact with the fostered, or even adopted child. Even though it could be perceived that a prolonged hospital stay and life with a foster or adoptive family is less preferable than that remaining with the birth family, this in itself would not make life intolerable or not worthwhile. This case is more complex than purely difficult social circumstances making it impossible to provide care, but hinges on the parents unwillingness to undertake the necessary care. One consideration is that the process seems daunting to the parents now, a perspective that is colored to some extent by their experience up to this point of long-term ventilation by an endotracheal tube delivered in the neonatal intensive care. The parents may not be able to distinguish between the current mode of invasive ventilation and NIV. However, given the chance and training, the parents may later feel they could manage with NIV. From a long-term follow-up of 196 children with CCHS in North America and Europe 88% of parents stated that things got better with time.3 Withdrawing care now could be perceived as a “self-fulfilling prophecy”, as baby H would die and the parents would continue to believe that caring for him would have been too difficult, without any experience of doing so. There is no doubt that there are considerable burdens of care imposed on the parents if they take baby H home. If the PHOX2B gene mutation had been detected antenatally, say at 12–14 weeks gestation, then many societies would acknowledge that the interests of the mother outweigh those of the future life of the foetus and termination of pregnancy would be ethically permissible. However, baby H is now 8 weeks of age and we need to consider what level of burden to the parents would make it acceptable to stop active treatment of the child. To start with we will consider the interests of the parents (without the consideration of direct burdens to the child) because this is precisely what the initial response of the parents was. While tracheostomy ventilation may be required for the first year or two, the long-term expectation is for NIV. Could it be considered that the burdens of provision of NIV (and monitoring) on the parents be intolerable, that is, so high that they would not be ethically obliged to bear Pediatric Pulmonology
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those burdens? If the answer is yes, then keeping baby H alive would be supererogatory for his parents. However, this position would seem to be in conflict with the observation that many parents of children with CCHS or neuromuscular disease elect to support their children with NIV, and manage to do so long-term.2,3,7,11 Evidence from a long- term follow-up study of children with CCHS would suggest that managing nocturnal NIV is not an “intolerable burden” with 78% of parents believing they provided better care at home than in hospital.3 Other aspects of psychosocial functioning from this study are shown in the Table 1. While there are some limitations of this data (it is cross-sectional and does not measure the degree of parental dysfunction) it does not provide evidence that the burdens of care would be intolerable to most parents. The degree of burden placed on baby H’s parents could be seen in context of other parents of a disabled child. For TABLE 1— Family Stress and Lifestyle Issues in 196 CCHS Patients: Issues at Present or in Past “Child’s health and care requirements have…” Led to marital/relationship stress Led to separation or divorce Affected the decision to have more children Led to stress for siblings of CCHS children Led to behavior problems for siblings Affected family vacations/recreation Limited parents’ social outings Limited parents’ occupational or educational mobility Led to regularly canceling family events Limited family’s ability to use air travel Required 5þ hr/month of care coordination and advocacy with service providers Required up to 5 hr a month for coordination/advocacy Led to worry about ventilator malfunction Led to worry about continued financial support for CCHS medical care Led to lack of full confidence in advice of primary-care provider Led to lack of confidence in a covering physician’s care/advice Led to concern about unaddressed medical needs Led to worry about inadequate local emergency care
%
n
60.2 15.8 50.5
118 31 99
42.3
83
25.5
50
75.5
148
73.5 66.8
144 131
31.6
62
39.8
78
27.6
54
27.6
54
75.0
147
54.6
107
49.0
96
81.6
160
11.2
22
28.1
55
Table Reproduced from Vanderlaan et al., Paediatric Pulmonology 2004: 37(3):217–29.
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example parents of children with severe cerebral palsy and cognitive impairment or Duchenne Muscular Dystrophy have significant day, and often night-time care needs yet are expected to look after their children at home (or give them up for fostering or adoption). A difference may be that for those children there is no treatment to withdraw, at least until a complication such as a respiratory infection occurs. In CCHS the option of withdrawal is there from the start. It is hard to imagine that there is a threshold of parental burden that would allow withdrawal of life-sustaining treatment, independent of the child’s best interests, but if there is, CCHS does not approach that threshold. When considering withdrawal of treatment for baby H, should the child’s age be taken into consideration? Baby H is now 8 weeks of age, but would the considerations of parental burden carry different weight if baby H presented at 6 months of age, or 12 months, 2 years etc.? We suspect that it would be unusual for parents of a child presenting after the newborn period to request withdrawal of active treatment of CCHS. This is likely to reflect a greater sense of sentience and personhood in the older child and greater attachment to the child that would make a decision to withdraw life-sustaining treatment much harder. However in this particular case we know that both sentience and attachment will develop so that the neonatal presentation does not seem any different from a moral or ethical perspective to a later presentation. On this basis, we argue that withdrawal of treatment should not be considered just because it somehow seems easier in a baby who is currently minimally sentient or minimally connected. It is an important part of good clinical care to consider the burden placed on parents for medical care but not to “pit” the child’s interests against those of the parents, which seem to be exactly what is happening in this case. The response to parental burden should be to try to ameliorate the burden. This would be done through good training for his care, provision of carers to help in the home (trained lay carers to observe the child overnight and at time in the day if needed, and perhaps general home help), psychological support, and financial support. We recognize that it may not be possible to put enough help in place to make life comfortable and in this particular situation provision of help in rural areas can be unreliable. From an ethical standpoint; however, the degree of support for the family should not lead to a decision to withdraw treatment. There are enough supports available in Australia, or similar countries, even if not perfect. If supports for baby H are not enough to get him home, then there would also be a moral obligation to try and develop these supports. If the parents still feel the burden on them is too high, then foster care or adoption is the ethically appropriate alternative, not withdrawal of care. Parental refusals of medical treatment have been well reviewed by Diekema (2004) who has developed eight
Ethical Considerations With the Management of CCHS TABLE 2— Conditions for Justified State Interference With Parental Decision-Making. 1 By refusing to consent are the parents placing their child at significant risk of serious harm? 2 Is the harm imminent, requiring immediate action to prevent it? 3 Is the intervention that has been refused necessary to prevent the serious harm? 4 Is the intervention that has been refused of proven efficacy, and therefore, likely to prevent the harm? 5 Does the intervention that has been refused by the parents not also place the child at significant risk of serious harm, and do its projected benefits outweigh its projected burdens significantly more favorably than the option chosen by the parents? 6 Would any other option prevent serious harm to the child in a way that is less intrusive to parental autonomy and more acceptable to the parents? 7 Can the state intervention be generalized to all other similar situations? 8 Would most parents agree that the state intervention was reasonable? From: Diekma, DS. Parental Refusal of Medical Treatment: The Harm Principl As Threshold For State Intervention. Theorretical Medicine 2004: 25: 243–264.
conditions that justify state intervention (see Table 2).12 He argues that decisions involving state intervention are not really based on a best interests test, which is an ideal of the care an incompetent person should receive, but rather, are based on the harm principle. That is, parents have wide discretion in decision making for their children, and may not choose the best option, but cannot make a decision that will significantly harm their child. In this section we have tried to tease out the ethical issues regarding the burden of care on the parents in caring for baby H. If we make a strong enough case to continue supporting him, an unfortunate consequence might be that parents feel forced to take him home against their initial preference, rather than give him up for adoption. They are likely to experience guilt if they withdraw care or give him up for adoption, but that can be dealt with, to some extent with psychological support. In any case, following this line of reasoning returns the primary consideration to the parents’ perspective, ignoring the child’s interests, which we have argued is not ethically justified. Is it Really in the Best Interest of Baby H to Keep Him Alive?
This case has been complicated by the parents asking the question as to whether a lifetime requiring ventilator support with the need to have awake carers in the home, with regular and close medical follow-up and some uncertainties about the long-term future is worthwhile for Baby H. This can be considered from two directions. Is it in baby H’s best interests to live, or would we be doing harm to baby H by keeping him alive? To break this down further and arrive at ethically acceptable options, we
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would like to consider the following issues: (a.) the benefits and burdens of care; (b.) quality of life; (c.) extraordinary measures; (d.) uncertainties. The Benefits and Burdens of Care
What is germane to this discussion is whether the burdens of care (to baby H) outweigh the benefits. This is the balance on the beneficence-non-maleficence continuum that medical practitioners and patients weigh up every day in arriving at medical decisions. Sometimes this is weighted towards the beneficence end of the continuum in “the best interests” test and sometimes weighted towards the non-maleficence end of the continuum, often framed up in the “harm principle”.13 While the principles of beneficence and non-maleficence serve most situations well, in complex medical cases the balance is not always straightforward. We acknowledge that the same information can sometimes appear on both sides of the ledger and critically, the way the information is presented to families can color their judgement. In essence, benefits and burdens of care are subjective assessments that are often weighted by the medical decision maker towards their personal biases. In a case like baby H, there may be other considerations, in particular, distribution of resources, which may be unstated, but hidden behind expressed concern about excessive burden to the patient and family. To minimize this biasing (conscious or unconscious) it is important to set out the specific benefits and burdens that are foreseeable. Kopelman suggests that “decision makers should use the best available information to assess the incompetent person’s immediate and long-term interests …that maximises the person’s overall, or long term benefits and minimises burdens.”14 The benefits to baby H of having ventilator support while asleep are: continued life with the certainty (as much as can be guaranteed for any child) of developing relationships with his family, making friends, going to school, and having a job in the future. He will be able to experience joy and make decisions as an autonomous person. Withdrawing care now would harm him in that he would not get to experience any of these things that could reasonably be considered the essentials of a meaningful life. The burdens to baby H would be prolonged hospitalization over 6–12 months initially, the possibility of tracheostomy ventilation for a year or two, NIV required with every sleep, mid-face hypoplasia if prolong mask ventilation alone was used, close monitoring while asleep (pulse oximeter and awake carer), regular medical outpatient visits, admission to hospital for additional ventilator support with respiratory tract infections, annual sleep study (overnight stay in sleep unit), cardiovascular monitoring and 25% chance of pacemaker insertion, mild-moderate restriction on sporting activity, observation while awake in case he fell asleep, 25% chance of mild cognitive impairment (this may be ameliorated by adequate ventilation), and psychological consequences of a medicalized life. Some of these burdens Pediatric Pulmonology
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are almost certainly temporary (initial admission to hospital, tracheostomy care) or correctable (skin injury from the mask or mid-facial hypoplasia can be surgically corrected). We could reasonably expect him to reach adulthood but it is too far ahead to predict what his adult life might be. However he may be able to live independently without awake carers, which might be seen as the most intrusive factor for adult living. As a child the medical system takes a conservative, risk adverse approach, but as an adult he can decide for himself the level of observation he wishes to live under. A useful tool for ethical analysis can be consideration of analagous cases. This appeals to reason, and satisfies the ethical principle of justice. There are other similar situations involving NIV. For example, it would be expected that a child with severe obstructive sleep apnoea for whom continuous positive airway pressure (CPAP) is a suitable and tolerated treatment would have this provided. Even if the airway obstruction was associated with other significant morbidities (eg Down syndrome is a common association), CPAP would be used as long as it meets the physiological goals (improvement of sleep apnoea and reduction of secondary medical complications) and normative goals (improved daytime functioning). The patient interface is identical for CPAP as for BiPAP, although CPAP generally requires less monitoring. The key difference being that if the CPAP was disconnected, the child with sleep apnoea would continue to breath and not be at risk of immediate death. Our view is that withdrawal of care now would harm baby H and that the benefits of continued life outweigh the burdens. We would like to go beyond the minimum ethical standard of avoiding harm and see this decision as achieving his best interests.. Quality of Life
Quality of life is a consideration that is closely related to the discussion of benefits and burdens of care. At first glance, quality of life could be simply an expression of the benefit-burden calculus, and is affected by this, but quality of life takes into account a much broader construct, and is perhaps what the parents were asking when they used the phrase “life worthwhile”. Poor future quality of life is frequently invoked to weight decision-making against continuing life sustaining medical intervention, yet disability advocates argue against this approach. Legally, this may also be the case “The law does not permit decisions to be made concerning the quality of life nor any assessment of the value of human life (FvF, supreme Court Victoria].15 The subjective nature of quality of life assessments is troublesome, and perhaps even more subjective than the benefits-burdens analysis. Medical practitioners are well known to overestimate disability.16 We could not find any papers using a quality of life tool for patients with CCHS. In the American Thoracic Society Policy Statement on the Care of People with Pediatric Pulmonology
CCHS (2010) it is stated that “most children with CCHS can have prolonged survival with a good quality of life”.7 This is unreferenced and presumably the clinical impression of those caring for children with CCHS. In a study of 35 patients on home ventilation (diagnosis not specified), which included patients requiring ventilation through tracheostomy and by day, quality of life was rated lower than healthy controls. Although this rating met a statistical difference, the clinical difference was not great.17 Separating the other aspects of disability that are often associated with ventilation requirement (commonly neuromuscular weakness) may be problematic. Perhaps underpinning the small difference in quality of life is the difference between being born with a condition (or acquiring it early in childhood) compared with acquiring the illness later in life after an accumulated life experience that is rapidly, negatively altered (a cervical spine injury for example). The highly subjective nature of quality of life assessments argues against too much importance being placed on quality of life judgements when third parties (parents, doctors, and others) are making them on behalf of another person. In the case of baby H, much of the “work” in regards to quality of life could be considered under the benefits-burdens analysis. “Extra-ordinary” Care
In a previous era, provision of a ventilator for life-long home use might be considered “extra-ordinary” and used as a justification for not continuing active care. The concept of “extra-ordinary” therapy has been given less significance as a meaningful ethical construct because technological advances consistently raise the bar (a bilevel device for NIV is no longer “extra-ordinary”) and there is no consensus on what “extraordinary” means. The reason for the lack of consensus is not only because of changing medical technology but also resources and social attitudes. In the same timeframe that home ventilation has become more accepted, the approach to treatment of many conditions has changed. For example, the comfort only treatment approach to Baby Doe who had Down Syndrome and was born with oesophageal atresia would no longer be acceptable today.18 This suggests a combination of improved medical and supportive care for patients with disability (so the burden on the patient is less) and, perhaps, a greater acceptance of disability in our society. In the context of baby H, it is our opinion that the provision of NIV cannot be considered extra-ordinary. Beyond the ventilator requirements, we cannot see that the level of disability imposed by CCHS would justify cessation of treatment. Uncertainties
The concept of medical uncertainties can weigh heavily on the minds of both patients and medical decisionmakers. Even if future risks are well characterized and the frequency of occurrence known, it is impossible to put the individual into the statistic in a meaningful way. This can
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produce anxiety but is not a reason in itself to withdraw care. If a future situation arises that makes life unbearable for the patient, reassessment of continuing active medical treatment can be made at that stage. Who Gets to Decide?
A fundamental question in this case is who decides the outcome? It would be nearly impossible for the parents to separate their own social circumstances and perceived inability to care for Baby H, and the impact of baby‘s care on their life (and their other children) from the interests of Baby H alone. The current ethos of clinical care would recognize that Baby H is part of a family and his interests are not entirely separate from the interests of the family. However, Baby H is an individual and his interests are distinguishable, at least in basic matters, from those of his family. When the choice is between living and dying, Baby H’s individual interests need to take a higher priority and should be considered on their own. If, after separating the parent’s and child’s interests, and a careful explanation of the benefits and burdens of treatment, an agreement could not be reached, the involvement of a clinical ethics group would be helpful.19The ethics group may help find a way to serve the best interests of the child and maintain the parents as decision makers for their child. If the impasse could not be resolved, then the case would have to go before a court. In this situation it is very likely the court would support the decision in favour of life. In Cattanach vs Melchior in the High Court of Australia (2003) it was stated: “the value of human life…should not be confused with the joys of parenthood that are distributed unevenly”. 20 CONCLUSION
This case of CCHS takes us right to the edge of ethical certainty. Separating the parents’ wishes from the child’s interests is a good starting point to resolve the ethical dilemma. Next, building a detailed benefits and burdens analysis for the child is a way to diminish personal biases and in many cases, allow us to avoid making decisions based on quality of life. If there is still disagreement between the medical and parent’s opinion the involvement of a clinical ethics group is an appropriate way to try to resolve the disagreement. Ideally this approach would maintain the parents as decision makers for their child. In the case of baby H, we believe that it is in his best interests to provide ventilation. If the parents don’t wish to support it, the hospital should provide care until someone else can be found, or the parents come around. It would be unfortunate if a court had to decide.
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ACKNOWLEDGEMENT
The authors wish to thank Dr Mandie Griffiths for reviewing the manuscript. REFERENCES 1. Mellins RB, Balfour HH Jr, Turino GM, Winters RW. Failure of automatic control of ventilation (Ondine’s curse). Report of an infant born with this syndrome and review of the literature. Medicine 1970;49:487–504. 2. Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C. The French congenital central hypoventilation syndrome registry: general data, phenotype, and genotype. Chest 2005;127:72–79. 3. Vanderlaan M, Holbrook CR, Wang M, Tuell A, Gozal D. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol 2004;37:217–229. 4. Berry-Kravis EM, Zhou L, Rand CM, Weese-Meyer D. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 2006;174:1139–1144. 5. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B. Am J Med Genet A 2003; 123A:267–278. 6. Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol 2009;44:521–535. 7. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H, ATS Congenital Central Hypoventilation Subcommittee. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med 2010; 181:626–644. 8. Zelko FA, Nelson MN, Leurgans SE, Berry-Kravis EM, WeeseMeyer DE. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol 2010;45:92–98. 9. Tibballs J, Henning RD. Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome. Pediatr Pulmonol 2003;36:544–548. 10. Todd ES, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Rand CM, Zhou L, Maher BS, Marazita ML, Weese-Meyer DE. Facial phenotype in children and young adults with PHOX2Bdetermined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res 2006;59:39–45. 11. Wallis C, Paton JY, Beaton S, Jardine E. Children on long-term ventilatory support: 10 years of progress. Arch Dis Child 2011;96: 998–1002. 12. Diekema DS. Parental refusals of medical treatment: the harm principle as threshold for state intervention. Theoretical medicine and bioethics 2004;25:243–264. 13. Beauchamp TL, Childress JF. Principles of biomedical ethics. 6th ed. New York: Oxford University Press; 2009. 14. Kopelman LM. Using the best interests standard in treatment decisions for young children. In: Miller G, ed. Pediatric bioethics. New York: Cambridge University Press; 2009. 15. Skene L. Law and medical practice. 2nd ed. Sydney: Lexis Nexis; 2004.
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16. Waters EB, Wake MA, Hesketh KD, Ashley DM, Smibert E. Health-related quality of life of children with acute lymphoblastic leukaemia: comparisons and correlations between parent and clinician reports. Journal international du cancer 2003;103:514– 518. 17. Noyes J. Comparison of ventilator-dependent child reports of health-related quality of life with parent reports and normative populations. J Adv Nurs 2007;58:1–10.
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18. Gustafson JM, Mongolism parental desires, and the right to life. Perspectives in biology and medicine 1973;16:529– 557. 19. Gold H, Hall G, Gillam L. Role and function of a paediatric clinical ethics service: experiences at the Royal Children’s Hospital, Melbourne. J Paediatr Child Health 2011;47:632– 636. 20. Melchior Cv. HCA 38. 2003
Ethical Considerations With the Management of Congenital Central Hypoventilation Syndrome John Massie, MBBS FRACPPhD,1,2,3,4* and Lynn Gillam,
BA, MA, PhD
2,3,4
Summary. Congenital central hypoventilation syndrome (CCHS) is a well-recognized disorder of the autonomic nervous system caused by mutations in the PHOX2B gene. The most characteristic feature is failure of ventilatory control, resulting in the need for respiratory support while asleep, and in some cases when awake also. Most cases present in infancy or early childhood. Technological advances allow patients with mild to moderate phenotypesto receive adequate support by non-invasive ventilation (NIV), or diaphragm pacing (or combination of the two) avoiding the need for long-term ventilation by tracheostomy. Daytime functioning of patients with CCHS who require sleep-time ventilation only is expected to be good, with some additional surveillance to ensure they don’t accidentally fall asleep without respiratory support available. Some children with CCHS have other complications, such as Hirschprung’s disease, learning difficulties, and cardiac arrhythmias (leading in some instances to heart block and the requirement for a pacemaker). In a few cases, patients can develop neurogenic malignancies. Parents bear a significant burden for the care of their child with CCHS including provision of NIV at home, close monitoring, and regular surveillance for complications. Information about patients with CCHS comes from databases in the United States and Europe, but these don’t include infants or children for whom ventilator support was not offered. In this paper we use a case study to explore the ethical issues of provision of treatment, or non-treatment, of children with CCHS. Pediatr Pulmonol. 2015;50:503–510. ß 2014 Wiley Periodicals, Inc. Key words: congenital central hypoventilation syndrome; ethics. Funding source: none reported.
INTRODUCTION
Congenital central hypoventilation syndrome (CCHS) was first described in the 1970s and is a clinical condition of autonomic nervous system dysfunction, the most recognizable component being poor regulation of respiration during sleep.1 There are now many hundred of patients recognized with this condition.2,3 CCHS is caused by mutations in the paired-like homeobox 2B (PHOX2B) gene, which functions as a transcription factor for the development of the autonomic nervous system.4,5 From a respiratory perspective, there is poor ventilatory response to arterial levels of oxygen and carbon dioxide resulting in a poor drive to breath, most marked when asleep. This may also manifest in wakefulness with a poor ventilation response to exercise and respiratory tract infections. Other, common autonomic associations include Hirschprung’s disease (absent autonomic ganglia in the gut) and disorders of cardiovascular regulation (cardiac arrhythmias). Some patients develop neurogenic tumors. There is some genotype–phenotype correlation, and classically patients present at birth or early in infancy. Later childhood, or even adulthood presentations have been described. A detailed scientific and clinical review has been published recently.6 ß 2014 Wiley Periodicals, Inc.
The treatment of CCHS is by mechanical ventilation at the times of ventilation insufficiency (classically asleep, but in some cases while awake too) and management of other associated abnormalities if present, such as cardiac pacing for arrhythmias and gut resection for Hirschprung’s disease. 1 Department of Respiratory Medicine, Royal Children’s Hospital, Victoria, Australia. 2
Murdoch Childrens Research Institute, Victoria, Australia.
3
Department of Paediatrics, University of Melbourne, Victoria, Australia.
4
Children’s Bioethics Centre, Royal Children’s Hospital, Victoria, Australia.
Both authors contributed equally to the preparation of the manuscript. Conflict of interest: None.
Correspondence to: Associate Professor John Massie Department of Respiratory Medicine, Royal Children’s Hospital Flemington Road. Parkville. Victoria. E-mail: [email protected] Received 25 February 2014; Accepted 17 June 2014. DOI 10.1002/ppul.23097 Published online 5 September 2014 in Wiley Online Library (wileyonlinelibrary.com).
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Those at risk of neurogenic tumors require regular surveillance. Detailed management guidelines for CCHS have been recently published by the American Thoracic Society.7 The ability to manage patients with CCHS by prolonged mechanical support has been made easier in the last 20 years by the development of non-invasive ventilation (NIV), which is suitable for patients requiring support only while asleep (or for limited periods in the day, for example with respiratory tract infections). For those requiring diurnal ventilatory support, this can be achieved by ventilation through a tracheostomy or diaphragm pacing. The current literature, based on database reports from the United States and Europe, describes many hundreds of patients receiving ventilatory support, the majority by NIV.2,3 The outcomes may be variable in terms of morbidity and mortality. This is, in part, explained by inadequate ventilatory support in the first few years of life (or perhaps delay until diagnosis and initiation of ventilation), poor adherence with ventilation support, and the later development of non-ventilatory complications (cardiac arrythmias, neurogenic tumors or other autonomic nervous system dysfunction). PHOX2B may have some primary role in development of neurocognitive function.8 The available data does not include patients who were not actively treated after recognition of the diagnosis of CCHS. CCHS provides an unusual insight into medical decision-making around long-term ventilator support of children as the organ damage or disabilities associated with the usual situations of long-term ventilation use are stripped away. We could not find discussion relating to the ethical issues of treatment (or non-treatment) of CCHS in the literature. The aim of this paper is to present a case of CCHS and discuss the ethical issues of treatment or nontreatment. The case details and parent responses are drawn from a number of different cases, put together as a single case in order to explore the ethical issues thoroughly. We deal with the most common clinical situation of a child requiring ventilation while asleep. SYNOPSIS
A term baby with respiratory insufficiency while asleep presented at 6 hr of age. The diagnosis was established at 8 weeks of age based on clinical features, with confirmation by genotype. There were no other features of autonomic dysfunction. The family had some difficult social circumstances and doubted their ability to care for the child at home. They also questioned whether the life of this child, requiring ventilation while asleep and close medical supervision, would be worthwhile. ETHICAL QUESTION
How should doctors respond if parents elect not to continue active ventilatory treatment and allow their baby to die? Pediatric Pulmonology
CASE Medical
Baby H was born at term following an uneventful pregnancy. At birth Baby H was noted to be vigorous with Apgar scores of 8 and 9. There were no dysmorphic features. At 6 hr of age Baby H was noted to be pale and cyanosed and resuscitation was commenced. He responded to bag and mask ventilation was intubated by the retrieval team and transferred to neonatal intensive care. After extensive investigation it was determined that Baby H had CCHS and needed ventilation when asleep. There was no evidence of associated Hirschprung’s disease. Brain MRI was normal. Baby H had mutations in the PHOX2B gene (alanine repeat expansion number 20/26), confirming the diagnosis. Social
His mother was a healthy, 30 year old living in a defacto relationship with her partner of 10 years. Neither parent worked. There were two older siblings aged 4 and 2 years of age. The family lived in a rural town, 2 hr from the nearest local hospital and 4 hr from a tertiary paediatric hospital. Neither parent expressed religious beliefs. Prognosis
Baby H would require ventilation while asleep for his entire life. Because of the difficulty ensuring adequate ventilation with NIV methods in the first 1–2 years of life, many babies with CCHS are routinely managed with a tracheostomy and ventilation.7 Some units have reported success with NIV from the beginning, so that it may be possible to move from the current endotracheal tube and try non-invasive ventilation.9 It is possible that a combination of devices may be selected, a negative pressure device (infant port-a-lung or cuirass) and face mask bi-level ventilation. The first risk of non-invasive support is inadequate ventilation which may result in recurrent chest infections, atelectasis and in the longterm pulmonary hypertension, and perhaps developmental delay. If non-invasive support was inadequate, it would be possible to switch to tracheostomy ventilation and try later to re-establish non-invasive support. Other complications of mask ventilation can be localized trauma to the skin of the face (temporary) and longer term, mid-facial hypoplasia (surgically correctable). Another option for ventilation is diaphragm pacing, which is particularly suited to the child requiring awake ventilator support in addition to sleep time. It would be likely that Baby H would have to remain in the hospital for the first 3–6 months of life, but with the intention that the parents would be trained to care for him, including his ventilator care. Once confident they could manage him,
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he could be looked after at home. He would need monitoring while asleep with an oximeter and an awake carer seven nights a week. Finding carers who live in their area could prove difficult, and delay transition to home. Funding arrangements vary between health services, but in Australia the child would be provided with a ventilator (and spare) with battery to allow trips away from home. There would be some out of pocket expenses for disposable items. In Australia, one of the parents could be designated the full time carer and receive a carer’s payment. Baby H would need regular assessment at the tertiary hospital, including overnight sleep studies annually. If Baby H fell asleep without being ventilated, he would probably die. When awake, Baby H would be like any other baby and, with adequate ventilation while asleep, it is expected his development would be normal. Often ventilation responses are not normal awake, and particularly with inter-current illnesses, such as respiratory tract infections, he may require awake ventilation. There are some other associations with CCHS. It is part of a broader disorder of autonomic nervous system regulation. The most common serious one is Hirschprung’s disease (an absence of nerve ganglia in the gut), which he does not have. Patients require cardiovascular monitoring regularly, and 25% of patients with the PHOX2B 20/26 mutation require pacemakers at some stage.6 Individuals with CCHS are said to have a characteristic facial appearance, but this is subtle and most would not be recognized as dysmorphic.10 Some patients (with longer alanine repeat sequence mutations) are at risk of developing neural crest tumors, but this would not be the case for baby H. 6 Parent’s Response
The parents considered all this information and were unsure whether they could manage Baby H at home or that a life dependent on mechanical ventilation was worthwhile. The parents expressed concern about prolonged hospitalization, ventilation, possibility of tracheostomy and possible later pacemaker, uncertain future, long distance from the hospital (either to visit, stay to learn care and support Baby H), and concerns on the impact on the siblings and their own future life. DISCUSSION OF ETHICAL ISSUES
The response of baby H’s parents raises two ethical questions. (1). Is it ethically appropriate not to treat because the parents feel they couldn’t cope with providing necessary care? (2). Is it really in the best interest of baby H to keep him alive? We will consider these two questions in turn, in the order raised by the parents. We will discuss these in turn and then consider the important question of who gets to make the decision.
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Is it Ethically Appropriate Not to Treat When the Parents Feel They Couldn’t Cope With Providing Necessary Care?
If this was a straight-forward question of the parent’s inability to care for the child at home in the face of difficult social circumstances then the answer would be “no”, it is not appropriate to let baby H die. There are alternatives for care of baby H. He could remain in the care of the hospital until a suitable foster family could be found, and permanent adoption arranged. While this is not a common scenario, structures are in place to manage such cases, even when there are “high” levels of medical care required. It is usually possible for the birth family to maintain some contact with the fostered, or even adopted child. Even though it could be perceived that a prolonged hospital stay and life with a foster or adoptive family is less preferable than that remaining with the birth family, this in itself would not make life intolerable or not worthwhile. This case is more complex than purely difficult social circumstances making it impossible to provide care, but hinges on the parents unwillingness to undertake the necessary care. One consideration is that the process seems daunting to the parents now, a perspective that is colored to some extent by their experience up to this point of long-term ventilation by an endotracheal tube delivered in the neonatal intensive care. The parents may not be able to distinguish between the current mode of invasive ventilation and NIV. However, given the chance and training, the parents may later feel they could manage with NIV. From a long-term follow-up of 196 children with CCHS in North America and Europe 88% of parents stated that things got better with time.3 Withdrawing care now could be perceived as a “self-fulfilling prophecy”, as baby H would die and the parents would continue to believe that caring for him would have been too difficult, without any experience of doing so. There is no doubt that there are considerable burdens of care imposed on the parents if they take baby H home. If the PHOX2B gene mutation had been detected antenatally, say at 12–14 weeks gestation, then many societies would acknowledge that the interests of the mother outweigh those of the future life of the foetus and termination of pregnancy would be ethically permissible. However, baby H is now 8 weeks of age and we need to consider what level of burden to the parents would make it acceptable to stop active treatment of the child. To start with we will consider the interests of the parents (without the consideration of direct burdens to the child) because this is precisely what the initial response of the parents was. While tracheostomy ventilation may be required for the first year or two, the long-term expectation is for NIV. Could it be considered that the burdens of provision of NIV (and monitoring) on the parents be intolerable, that is, so high that they would not be ethically obliged to bear Pediatric Pulmonology
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those burdens? If the answer is yes, then keeping baby H alive would be supererogatory for his parents. However, this position would seem to be in conflict with the observation that many parents of children with CCHS or neuromuscular disease elect to support their children with NIV, and manage to do so long-term.2,3,7,11 Evidence from a long- term follow-up study of children with CCHS would suggest that managing nocturnal NIV is not an “intolerable burden” with 78% of parents believing they provided better care at home than in hospital.3 Other aspects of psychosocial functioning from this study are shown in the Table 1. While there are some limitations of this data (it is cross-sectional and does not measure the degree of parental dysfunction) it does not provide evidence that the burdens of care would be intolerable to most parents. The degree of burden placed on baby H’s parents could be seen in context of other parents of a disabled child. For TABLE 1— Family Stress and Lifestyle Issues in 196 CCHS Patients: Issues at Present or in Past “Child’s health and care requirements have…” Led to marital/relationship stress Led to separation or divorce Affected the decision to have more children Led to stress for siblings of CCHS children Led to behavior problems for siblings Affected family vacations/recreation Limited parents’ social outings Limited parents’ occupational or educational mobility Led to regularly canceling family events Limited family’s ability to use air travel Required 5þ hr/month of care coordination and advocacy with service providers Required up to 5 hr a month for coordination/advocacy Led to worry about ventilator malfunction Led to worry about continued financial support for CCHS medical care Led to lack of full confidence in advice of primary-care provider Led to lack of confidence in a covering physician’s care/advice Led to concern about unaddressed medical needs Led to worry about inadequate local emergency care
%
n
60.2 15.8 50.5
118 31 99
42.3
83
25.5
50
75.5
148
73.5 66.8
144 131
31.6
62
39.8
78
27.6
54
27.6
54
75.0
147
54.6
107
49.0
96
81.6
160
11.2
22
28.1
55
Table Reproduced from Vanderlaan et al., Paediatric Pulmonology 2004: 37(3):217–29.
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example parents of children with severe cerebral palsy and cognitive impairment or Duchenne Muscular Dystrophy have significant day, and often night-time care needs yet are expected to look after their children at home (or give them up for fostering or adoption). A difference may be that for those children there is no treatment to withdraw, at least until a complication such as a respiratory infection occurs. In CCHS the option of withdrawal is there from the start. It is hard to imagine that there is a threshold of parental burden that would allow withdrawal of life-sustaining treatment, independent of the child’s best interests, but if there is, CCHS does not approach that threshold. When considering withdrawal of treatment for baby H, should the child’s age be taken into consideration? Baby H is now 8 weeks of age, but would the considerations of parental burden carry different weight if baby H presented at 6 months of age, or 12 months, 2 years etc.? We suspect that it would be unusual for parents of a child presenting after the newborn period to request withdrawal of active treatment of CCHS. This is likely to reflect a greater sense of sentience and personhood in the older child and greater attachment to the child that would make a decision to withdraw life-sustaining treatment much harder. However in this particular case we know that both sentience and attachment will develop so that the neonatal presentation does not seem any different from a moral or ethical perspective to a later presentation. On this basis, we argue that withdrawal of treatment should not be considered just because it somehow seems easier in a baby who is currently minimally sentient or minimally connected. It is an important part of good clinical care to consider the burden placed on parents for medical care but not to “pit” the child’s interests against those of the parents, which seem to be exactly what is happening in this case. The response to parental burden should be to try to ameliorate the burden. This would be done through good training for his care, provision of carers to help in the home (trained lay carers to observe the child overnight and at time in the day if needed, and perhaps general home help), psychological support, and financial support. We recognize that it may not be possible to put enough help in place to make life comfortable and in this particular situation provision of help in rural areas can be unreliable. From an ethical standpoint; however, the degree of support for the family should not lead to a decision to withdraw treatment. There are enough supports available in Australia, or similar countries, even if not perfect. If supports for baby H are not enough to get him home, then there would also be a moral obligation to try and develop these supports. If the parents still feel the burden on them is too high, then foster care or adoption is the ethically appropriate alternative, not withdrawal of care. Parental refusals of medical treatment have been well reviewed by Diekema (2004) who has developed eight
Ethical Considerations With the Management of CCHS TABLE 2— Conditions for Justified State Interference With Parental Decision-Making. 1 By refusing to consent are the parents placing their child at significant risk of serious harm? 2 Is the harm imminent, requiring immediate action to prevent it? 3 Is the intervention that has been refused necessary to prevent the serious harm? 4 Is the intervention that has been refused of proven efficacy, and therefore, likely to prevent the harm? 5 Does the intervention that has been refused by the parents not also place the child at significant risk of serious harm, and do its projected benefits outweigh its projected burdens significantly more favorably than the option chosen by the parents? 6 Would any other option prevent serious harm to the child in a way that is less intrusive to parental autonomy and more acceptable to the parents? 7 Can the state intervention be generalized to all other similar situations? 8 Would most parents agree that the state intervention was reasonable? From: Diekma, DS. Parental Refusal of Medical Treatment: The Harm Principl As Threshold For State Intervention. Theorretical Medicine 2004: 25: 243–264.
conditions that justify state intervention (see Table 2).12 He argues that decisions involving state intervention are not really based on a best interests test, which is an ideal of the care an incompetent person should receive, but rather, are based on the harm principle. That is, parents have wide discretion in decision making for their children, and may not choose the best option, but cannot make a decision that will significantly harm their child. In this section we have tried to tease out the ethical issues regarding the burden of care on the parents in caring for baby H. If we make a strong enough case to continue supporting him, an unfortunate consequence might be that parents feel forced to take him home against their initial preference, rather than give him up for adoption. They are likely to experience guilt if they withdraw care or give him up for adoption, but that can be dealt with, to some extent with psychological support. In any case, following this line of reasoning returns the primary consideration to the parents’ perspective, ignoring the child’s interests, which we have argued is not ethically justified. Is it Really in the Best Interest of Baby H to Keep Him Alive?
This case has been complicated by the parents asking the question as to whether a lifetime requiring ventilator support with the need to have awake carers in the home, with regular and close medical follow-up and some uncertainties about the long-term future is worthwhile for Baby H. This can be considered from two directions. Is it in baby H’s best interests to live, or would we be doing harm to baby H by keeping him alive? To break this down further and arrive at ethically acceptable options, we
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would like to consider the following issues: (a.) the benefits and burdens of care; (b.) quality of life; (c.) extraordinary measures; (d.) uncertainties. The Benefits and Burdens of Care
What is germane to this discussion is whether the burdens of care (to baby H) outweigh the benefits. This is the balance on the beneficence-non-maleficence continuum that medical practitioners and patients weigh up every day in arriving at medical decisions. Sometimes this is weighted towards the beneficence end of the continuum in “the best interests” test and sometimes weighted towards the non-maleficence end of the continuum, often framed up in the “harm principle”.13 While the principles of beneficence and non-maleficence serve most situations well, in complex medical cases the balance is not always straightforward. We acknowledge that the same information can sometimes appear on both sides of the ledger and critically, the way the information is presented to families can color their judgement. In essence, benefits and burdens of care are subjective assessments that are often weighted by the medical decision maker towards their personal biases. In a case like baby H, there may be other considerations, in particular, distribution of resources, which may be unstated, but hidden behind expressed concern about excessive burden to the patient and family. To minimize this biasing (conscious or unconscious) it is important to set out the specific benefits and burdens that are foreseeable. Kopelman suggests that “decision makers should use the best available information to assess the incompetent person’s immediate and long-term interests …that maximises the person’s overall, or long term benefits and minimises burdens.”14 The benefits to baby H of having ventilator support while asleep are: continued life with the certainty (as much as can be guaranteed for any child) of developing relationships with his family, making friends, going to school, and having a job in the future. He will be able to experience joy and make decisions as an autonomous person. Withdrawing care now would harm him in that he would not get to experience any of these things that could reasonably be considered the essentials of a meaningful life. The burdens to baby H would be prolonged hospitalization over 6–12 months initially, the possibility of tracheostomy ventilation for a year or two, NIV required with every sleep, mid-face hypoplasia if prolong mask ventilation alone was used, close monitoring while asleep (pulse oximeter and awake carer), regular medical outpatient visits, admission to hospital for additional ventilator support with respiratory tract infections, annual sleep study (overnight stay in sleep unit), cardiovascular monitoring and 25% chance of pacemaker insertion, mild-moderate restriction on sporting activity, observation while awake in case he fell asleep, 25% chance of mild cognitive impairment (this may be ameliorated by adequate ventilation), and psychological consequences of a medicalized life. Some of these burdens Pediatric Pulmonology
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are almost certainly temporary (initial admission to hospital, tracheostomy care) or correctable (skin injury from the mask or mid-facial hypoplasia can be surgically corrected). We could reasonably expect him to reach adulthood but it is too far ahead to predict what his adult life might be. However he may be able to live independently without awake carers, which might be seen as the most intrusive factor for adult living. As a child the medical system takes a conservative, risk adverse approach, but as an adult he can decide for himself the level of observation he wishes to live under. A useful tool for ethical analysis can be consideration of analagous cases. This appeals to reason, and satisfies the ethical principle of justice. There are other similar situations involving NIV. For example, it would be expected that a child with severe obstructive sleep apnoea for whom continuous positive airway pressure (CPAP) is a suitable and tolerated treatment would have this provided. Even if the airway obstruction was associated with other significant morbidities (eg Down syndrome is a common association), CPAP would be used as long as it meets the physiological goals (improvement of sleep apnoea and reduction of secondary medical complications) and normative goals (improved daytime functioning). The patient interface is identical for CPAP as for BiPAP, although CPAP generally requires less monitoring. The key difference being that if the CPAP was disconnected, the child with sleep apnoea would continue to breath and not be at risk of immediate death. Our view is that withdrawal of care now would harm baby H and that the benefits of continued life outweigh the burdens. We would like to go beyond the minimum ethical standard of avoiding harm and see this decision as achieving his best interests.. Quality of Life
Quality of life is a consideration that is closely related to the discussion of benefits and burdens of care. At first glance, quality of life could be simply an expression of the benefit-burden calculus, and is affected by this, but quality of life takes into account a much broader construct, and is perhaps what the parents were asking when they used the phrase “life worthwhile”. Poor future quality of life is frequently invoked to weight decision-making against continuing life sustaining medical intervention, yet disability advocates argue against this approach. Legally, this may also be the case “The law does not permit decisions to be made concerning the quality of life nor any assessment of the value of human life (FvF, supreme Court Victoria].15 The subjective nature of quality of life assessments is troublesome, and perhaps even more subjective than the benefits-burdens analysis. Medical practitioners are well known to overestimate disability.16 We could not find any papers using a quality of life tool for patients with CCHS. In the American Thoracic Society Policy Statement on the Care of People with Pediatric Pulmonology
CCHS (2010) it is stated that “most children with CCHS can have prolonged survival with a good quality of life”.7 This is unreferenced and presumably the clinical impression of those caring for children with CCHS. In a study of 35 patients on home ventilation (diagnosis not specified), which included patients requiring ventilation through tracheostomy and by day, quality of life was rated lower than healthy controls. Although this rating met a statistical difference, the clinical difference was not great.17 Separating the other aspects of disability that are often associated with ventilation requirement (commonly neuromuscular weakness) may be problematic. Perhaps underpinning the small difference in quality of life is the difference between being born with a condition (or acquiring it early in childhood) compared with acquiring the illness later in life after an accumulated life experience that is rapidly, negatively altered (a cervical spine injury for example). The highly subjective nature of quality of life assessments argues against too much importance being placed on quality of life judgements when third parties (parents, doctors, and others) are making them on behalf of another person. In the case of baby H, much of the “work” in regards to quality of life could be considered under the benefits-burdens analysis. “Extra-ordinary” Care
In a previous era, provision of a ventilator for life-long home use might be considered “extra-ordinary” and used as a justification for not continuing active care. The concept of “extra-ordinary” therapy has been given less significance as a meaningful ethical construct because technological advances consistently raise the bar (a bilevel device for NIV is no longer “extra-ordinary”) and there is no consensus on what “extraordinary” means. The reason for the lack of consensus is not only because of changing medical technology but also resources and social attitudes. In the same timeframe that home ventilation has become more accepted, the approach to treatment of many conditions has changed. For example, the comfort only treatment approach to Baby Doe who had Down Syndrome and was born with oesophageal atresia would no longer be acceptable today.18 This suggests a combination of improved medical and supportive care for patients with disability (so the burden on the patient is less) and, perhaps, a greater acceptance of disability in our society. In the context of baby H, it is our opinion that the provision of NIV cannot be considered extra-ordinary. Beyond the ventilator requirements, we cannot see that the level of disability imposed by CCHS would justify cessation of treatment. Uncertainties
The concept of medical uncertainties can weigh heavily on the minds of both patients and medical decisionmakers. Even if future risks are well characterized and the frequency of occurrence known, it is impossible to put the individual into the statistic in a meaningful way. This can
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produce anxiety but is not a reason in itself to withdraw care. If a future situation arises that makes life unbearable for the patient, reassessment of continuing active medical treatment can be made at that stage. Who Gets to Decide?
A fundamental question in this case is who decides the outcome? It would be nearly impossible for the parents to separate their own social circumstances and perceived inability to care for Baby H, and the impact of baby‘s care on their life (and their other children) from the interests of Baby H alone. The current ethos of clinical care would recognize that Baby H is part of a family and his interests are not entirely separate from the interests of the family. However, Baby H is an individual and his interests are distinguishable, at least in basic matters, from those of his family. When the choice is between living and dying, Baby H’s individual interests need to take a higher priority and should be considered on their own. If, after separating the parent’s and child’s interests, and a careful explanation of the benefits and burdens of treatment, an agreement could not be reached, the involvement of a clinical ethics group would be helpful.19The ethics group may help find a way to serve the best interests of the child and maintain the parents as decision makers for their child. If the impasse could not be resolved, then the case would have to go before a court. In this situation it is very likely the court would support the decision in favour of life. In Cattanach vs Melchior in the High Court of Australia (2003) it was stated: “the value of human life…should not be confused with the joys of parenthood that are distributed unevenly”. 20 CONCLUSION
This case of CCHS takes us right to the edge of ethical certainty. Separating the parents’ wishes from the child’s interests is a good starting point to resolve the ethical dilemma. Next, building a detailed benefits and burdens analysis for the child is a way to diminish personal biases and in many cases, allow us to avoid making decisions based on quality of life. If there is still disagreement between the medical and parent’s opinion the involvement of a clinical ethics group is an appropriate way to try to resolve the disagreement. Ideally this approach would maintain the parents as decision makers for their child. In the case of baby H, we believe that it is in his best interests to provide ventilation. If the parents don’t wish to support it, the hospital should provide care until someone else can be found, or the parents come around. It would be unfortunate if a court had to decide.
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ACKNOWLEDGEMENT
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