Spinal muscular atrophy type I: Do the benefits of ventilation compensate for its burdens?

Key Points

Background

Spinal muscular atrophy (SMA) type 1 is a progressive, autosomal, recessively inherited, neuromuscular disorder that presents in the first months of life with increasing floppiness, weakness, and often with a respiratory illness and respiratory distress. The disease is fatal in the first year of life without respiratory support.1, 2 Affected children become almost completely paralysed and almost unable to communicate, but are intellectually normal. In 2006, we published the case of Yasmin, an infant with SMA type 1 who was ventilated at 3 months of age for acute respiratory failure following a respiratory tract infection.3 Although Yasmin's parents were advised that long-term ventilation would not be in Yasmin's best interests, they wanted her to be on long-term ventilation.3 We now report on what has happened since then to Yasmin and her family. The parents have generously given written permission for the publication of this paper.

Case Report by Kelly Gray, Case Co-ordinator, Long-Term Ventilation Team

Yasmin is now eight years old and has resided in a tertiary children's hospital since she was ventilated in early infancy. Efforts towards her discharge have been long, complex and with many barriers, including finding suitable housing and adequate funding to support overnight carers. In New South Wales, funding for home ventilation is provided for children with non-progressive disorders, as progressive disorders are expected to be palliated. Yasmin's family sought and were provided with suitable accommodation through government supported housing. Because of the many barriers faced, Yasmin's first opportunity to be discharged home did not occur until she was approximately 5 years of age.

During those 5 years, Yasmin's parents have had two further healthy children, both unaffected. While they continued to visit Yasmin two or three times a week, the nature, frequency and duration of the visits changed over time. Home visits for Yasmin decreased. Her parents came for 1 or 2 h and assisted with personal cares. Her parents always asked after her progress and, if concerned, would ask for doctors to review her. Several attempts were made to discharge her. However, Yasmin's parents have said that, even if 24 h care could be provided, they could not take her home. The situation was reported to the Department of Family and Community Services, who, after some time, closed the case ‘due to competing priorities’.

Yasmin's survival with SMA type 1 has resulted in co-morbidities including severe osteopenia, chronic pain and muscular contractures. She is colonised with several multi-resistant organisms acquired in the hospital environment. However, she has not had pneumonia nor been significantly unwell for several years and, at present, no medical barrier to discharge exists.

Yasmin is mostly a happy child. She is under constant nursing care in a three-bedded room on a ward. Her daily timetable comprises of almost continuous cares including medication, hygiene, nappy changes, repositioning, therapy, charted observations and bracing regimes (see Table 1). She especially enjoys attending school several days a week. It is possible to discern Yasmin's mood through facial and other physiological signs. She is able to smile (minimally), she can wiggle her index finger and legs, and at times, she vocalises (by tooting around her tracheostomy). As she is unable to speak or move, Yasmin remains connected to a heart rate and oxygen monitor and is required to be in the line of sight of her carer at all times.

However, there are times when Yasmin is discernibly unhappy. She is unhappy when her parents leave. She becomes upset if her parents cancel a visit. She enjoys outings but dislikes returning to the ward. These are all things we see in cognitively normal children. How do we know what Yasmin likes and dislikes? While she is unable to cry the way a normal child does, she displays almost all the same signs. Her eyes produce tears and her face becomes red. Her heart rate increases and her oxygen saturation levels decline. But, as she is unable to move or speak, if no one is directly looking at her, she can sometimes become silently distressed. This silent distress is part of the reality of living in an acute children's hospital. Yasmin has shared a room with many acutely unwell children and has witnessed children in cardiac arrest, something no child should have to experience. Yasmin has, at any given time, a rotating roster of 8–10 nursing staff to support her, and although she receives excellent care, the bond between a child and her parent cannot be replicated under these circumstances.

Currently, with the family's consent, government agencies are working to find a foster family to care for Yasmin. It is unlikely, however, that a family will be found so she may have to move to a group home.

Commentary by David Isaacs, Paediatrician

Kelly Gray's moving description of the everyday burdens endured by Yasmin supports the view that it is cruel to prolong the life of an infant with SMA type 1. Yasmin's treatment is excessively burdensome, primarily not only for her but also for her parents, for her siblings and for the many dedicated hospital staff who have tried so hard to care for her. I believe that the decision to keep her alive in infancy was not in her best interests. She is a person, but one with almost no ability to express her wants, needs and loves. This is only my judgement, and others may have different views. But as Bernadette Tobin argued so cogently before,3 there is an obligation on medical staff to make a judgement based on the type of life our professional knowledge and experience tell us an infant will lead. If we believe that life will be unbearable, we should advocate that the child should be allowed to die, initially by counselling the parents as strongly as we can and subsequently in court if the parents want prolonged ventilation. Although parents of children on long-term ventilation for SMA Type 1 are more positive about their children's quality of life than their physicians,4 the parental assessment is susceptible to selection bias because the parents are in the unenviable position of reviewing a past decision.

Yasmin is not competent to make and convey her own decision whether or not invasive ventilation should be continued. While it may be ethically justifiable to cease Yasmin's long-term ventilation now, it is unlikely to be possible in the absence of parental agreement. The Court would almost certainly not grant an application to cease ventilation of a cognitively normal 8-year-old, especially as in 2005, a UK court decided against the views of the doctors that ceasing ventilation of an 18-month-old boy with SMA type 1 was ‘not in the child's best interests’.5

We should learn from this case and do everything that is reasonable and ethical not to ventilate infants long term for SMA type 1. One way is to publish this description of Yasmin's life to help parents and staff to make their own decision about whether or not her life is unbearable. A 2007 survey found that 76% of Australasian physicians surveyed opposed invasive ventilator support for SMA type 1,6 although not all those surveyed would be counselling parents acutely. What should clinicians say to the parents of a newly diagnosed child with SMA type 1? Clinicians ought to inform and advise parents, including informing them that long-term ventilation is practised in some countries. They ought to explain the options to parents and allow them to make the decision. In practice, most families are counselled against long-term ventilation for SMA type 1, and most accept this advice and seek palliative care.7 If an infant is not yet ventilated artificially, I think it would be ethically justifiable to advise against long-term ventilation on the grounds that the condition is incurable and the benefits of long-term ventilation are not such as to compensate the child for its burdens. Of course, the parents can and should be able to challenge this in a court. If the child is already ventilated artificially in accordance with the parents' wishes, as was the case for Yasmin, clinicians need to obtain the authority of a court before ceasing ventilation.

How are parents counselled in practice? I was on call for general paediatrics 2 years after Yasmin's initial presentation when a 6-month-old child was referred with respiratory failure and found to be severely malnourished and hypotonic with tongue fasciculation. The clinical diagnosis was SMA type 1 and, pending confirmation, we elected to ventilate the infant who would otherwise have died. After 5 days on the paediatric intensive care unit (PICU), genetic tests confirmed the diagnosis. We convened a meeting with the parents and a maternal aunt, the child's neurologist, intensivist and the PICU social worker. I explained that although some countries use long-term invasive ventilation, we thought this was cruel and explained the grounds for this statement. I then said that we were intending to take the ‘breathing tube’ out, unless they disagreed, and that the parents could choose whether this was done in the PICU, at home or in a children's hospice. I said I expected their baby to die quickly after taking the tube out. The child's aunt asked if there was pressure to make the decision immediately and I said no, but suggested that, as it was Friday, the parents should think about it over the weekend, and it would be kindest for the child to make the decision by Monday. On Sunday, the parents said they felt their child was suffering and asked for extubation at the hospice. This was arranged, and the child died peacefully in the mother's arms less than an hour later. This might be described by some as ‘benign paternalism’, although many ethicists would say that our approach was directive or persuasive and would only have constituted benign paternalism if we had totally denied the parents any choice. If the parents had insisted on continuing ventilation, for example, we would have gone to the Courts to ask for authority to stop invasive ventilation. I justify my directive approach because I thought I was acting as the baby's advocate, in the baby's best interests.

Commentary: Decision-Making for Infants with SMA Type 1 by Henry Kilham, Paediatrician

In my view, Yasmin has been committed to an existence that is burdensome beyond imagining. This has come about via the parental insistence on long-term assisted ventilation in concert with a medical system that opposed but still acquiesced to that wish. Deliberately embarking on a course that imposes such predictable suffering on a child would in other circumstances be considered child abuse. I will reflect on future decision-making for infants with SMA type 1 based on the premise that long-term ventilation was mistaken for Yasmin and would be mistaken for any future child with SMA type 1.

There are particular issues relevant to decision-making in SMA type 1. First, its natural history is not greatly variable, with most infants dying in their first year of life, and virtually all dying under the age of 2 years. We found one contradictory retrospective case series that described a more benign ‘intermediate’ form of SMA type 1, but the diagnosis was based on clinical features and not confirmed genetically,7 and all other papers suggest a more uniformly bleak prognosis.1, 8, 9 It is a cruel disease, but at least it is a finite one, and parents are often able to provide most of the care. Second, there is really only one crucial question in management – whether or not to proceed to life support (long-term ventilation), something very rarely done in Australia.6, 9 Third, the concept of not supporting breathing in a child with normal cognition rightly makes us uncomfortable. But the alternative is far worse, and it is the normal cognition that makes it so dreadful, as the child grows up without any prospects of physical independence or active interaction yet constantly aware and reminded of it (see Table 2). Most of what is included in Table 2 can be inferred from observation. Some of it is emotive, but life is emotive. If you are going to commit an infant to indefinite life support, the involved professionals and the parents are absolutely obliged to try to imagine the child's life. Much less important, but still to be considered, are the effects on themselves, their other children and the community. The situation is quite different to an adult, for example, with motor neurone disease who can choose life support, when needed, but also readily ‘opt out’ when life becomes too burdensome.

A Positive Approach to Decision-Making

Tassie et al. describe 5 years of Australian experience with infants with SMA Type 1 without a single instance of long-term ventilation.9 Their retrospective study suggested that a paternalistic approach was often used in decisions against long-term ventilation. Conflict appeared infrequent. We do not know, overall, what parents thought of the process.

I believe the physician in charge has a moral obligation to present a positive plan of palliative care that provides support to the child and the family but does not include long-term assisted ventilation. At the same time, the parents should be fully informed of the alternatives and given time for thought, discussion and negotiation. This can still respect the ideals of shared decision-making. Engendering trust in the physician-in-charge and the team from the outset is paramount. This is obviously augmented by these people showing they have empathy, knowledge, experience, skill, openness and patience. It is hampered by the absence of any of these, and by clinical blunders, missed messages from other consultants or by raising false hopes.

While directive, I believe this approach is welcomed by many parents in such circumstances, not least because in sharing the decision with trusted others, they are relieved of at least some of the burden of responsibility. Because the parents retain an essential role in decision-making, this approach cannot be described as medical paternalism.

Current and Emerging Threats to Allowing Natural Death

While the study of Tassie et al.9 is reassuring, repeating Yasmin's sad story needs to be anticipated and if possible, prevented. In this, poor communication and failure to establish trust are perhaps the most serious threats, more likely in families with poor English, different cultural backgrounds and previous poor medical experiences.

While shared decision-making is widely accepted, promoted and supported, it is problematic when misapplied or misunderstood. In this context, it fails if parents interpret the decision to ventilate long term as entirely theirs, either if they wrongly believe they alone have the authority, or where professionals avoid taking their fair share of responsibility, forcing the whole burden onto parents.

Increasing influence from the electronic media, both general and social, is rapidly gathering pace. The Internet can be informative for parents of sick children but can also be a source of sensationalism, misinformation and false hopes. More alarming is the emerging trend for websites focused on a tragic child, with ‘bloggers’ giving boundless advice, usually reflecting poor understanding of the medical, social and other facts. I believe this phenomenon has low moral value and would be harmful for a family coping with an infant with SMA type 1. As with media misinformation over immunisation, medical experts may need to be forthright in providing informed advice to prevent further harm.

Extremism in any form can be a threat. Some religious groups have insisted on continuing life support in anticipation of a miracle. Technophile doctors may believe that simply having the means to ventilate long term obligates use of that technology.

When Parents Insist on Long-Term Ventilation, Regardless

When no agreement between a physician and a family is attainable, judgement of an independent ‘third party’, that is, recourse to the law, is all that is left. Where parents have been advised that there is not an intention to commence long-term ventilation, or to continue it, they can be advised how they can involve the legal system. For a child already established on either non-invasive or invasive ventilation, a hospital and its medical staff could request legal review. Either course is fraught with hazards. The media will often become involved with the attendant risks of distortion and misrepresentation. Judges may have difficulty with complex medical issues, and legal decisions may be based on legal precedents or legal technicalities. Nevertheless, if we believe that long-term ventilation represents a mistaken, cruel outcome for an infant with SMA type 1, we should be prepared to argue this in a court of law.

Long-term ventilation of any child incurs enormous costs, far beyond what any family could afford. This applies equally to institutional or home care, as both incur substantial, continuous professional staffing. With ever-increasing demands of health care, even wealthy countries are unlikely to continue funding of treatments that are broadly seen by most people as futile or at least of highly questionable benefit. However, I believe that such judgements of treatment must be made prospectively, as part of public policy and wide community agreement, and not invoked to avoid embarking on treatment for any particular patient.

I believe that if good sense and good ethics prevail, allowing natural death will continue in infants with SMA type 1 in Australia, despite occasional variance from this elsewhere. Maintaining optimal decision-making should help counter the possibility of repeating the mistakes made in Yasmin's care. Persuasive advice from involved physicians can be justified.

Commentary: Decision-Making for Infants with SMA type 1 by Bernadette Tobin, Ethicist

I will comment on the ethical aspects of Yasmin's care and on what is said by the clinicians who are my co-authors. It is well known that medical treatment and nursing care for infants with severe abnormalities or other serious health-care needs can involve difficult ethical questions both about the benefits and burdens for the child of a specific form of treatment and about the just allocation of the society's resources. Although artificial means of life support can be appropriate, cases do arise in which the burdens, to the child or to others, are so very grave that a decision to withhold or withdraw a complex means of life support may be justified. A doctor's involvement in such a decision is perfectly consistent with Hippocratic medicine which goal is ‘the benefit of the sick’. Such a decision is different from a decision intentionally to bring about the death of the patient, whatever one's motives. The claim that these decisions are different will be rejected by anyone who thinks that consequences (‘outcomes’) are the only morally relevant feature of our actions but accepted by anyone who recognises that human actions have a whole range of morally relevant features: the agent's intention and motive, the moral category to which the act itself belongs, its likely consequences, the surrounding situation, the history leading up to it, etc. A defect in any one of these dimensions can damage an otherwise good action: indeed it can mean that the act is one that one should not do.

Why might a doctor recommend to the parents of a child with SMA type 1 that artificial ventilation should be withheld or withdrawn? Hardart and Truog canvas three reasons: (i) the doctor considers the practice of ventilating such children fiscally and thus socially irresponsible; (ii) the doctor considers mechanical ventilation unreasonable because of the uncertainty of success; and (iii) the doctor thinks the quality of life of a chronically ventilated child with SMA type 1 is ‘below the threshold that would justify treatment’.10 It seems clear that it is the third reason that lies behind the view of my colleagues (DI and HAK) that doctors should not provide artificial ventilation to children with SMA type 1. Indeed, HAK explicitly rejects the thought that the cost of providing long-term ventilation is relevant in any individual case, although he accepts that there are good reasons for having a ‘public policy’ on all high-cost medical treatments according to which funding for treatments, which are futile or ‘of questionable benefit’, would not be provided.

Because there are no studies examining the quality of life of ventilated SMA type 1 patients, clinical judgement – about the therapeutic value to the child of long-term ventilation – must inform this opinion. The question the doctors need to consider is whether the likely benefits that long-term ventilation can offer the child are sufficient to compensate her for the burdens the ventilation will impose on her. Caution is needed here – for two reasons. First, doctors should make quality of life judgements in one sense of that term (call it the ‘benefits to burdens’ conception of quality of life) and avoid making them in another (call it the ‘some lives are not worth living’ conception of quality of life). It is consistent with recognition of the essential equality of all human beings to make a quality of life judgement in the first sense: to judge that the burdens a life-sustaining treatment may impose on a child are such as to make it appropriate to withdraw or withhold a life-sustaining treatment. But it is not consistent with the recognition of the essential equality of all human beings to make a quality of life judgement in the second sense: to claim that the value or worth or ‘quality’ of a life can be measured (as in ‘he'd be better off dead’), or compared with the value of another person's life, or is in any way reduced by illness or disability. DI and HAK are making a quality-of-life judgement in the first sense (i.e. they judge that the benefits of long-term ventilation do not compensate Yasmin for the burdens it imposes on her). However, much of the literature is hopelessly confused about which kind of ‘quality of life’ judgement doctors may legitimately make. Indeed, the confusion stems partly from the fact that some contributors to the bioethical literature do claim that we can and should make quality of life judgements in the second sense. And, as Hardart and Truog say,10 doctors have historically been poor estimators of the life satisfaction of chronically ventilated persons.

How should doctors conceive of their role in decision-making about treatment for an infant with such a debilitating illness as SMA type 1? I have already implicitly indicated that responsibility for the decision lies with the parents and that doctors have the responsibility to inform, to advise and to help parents make wise decisions for their children. (In my view, talk of ‘paternalism’, ‘benign paternalism’, ‘autonomy’, ‘advocacy’, etc. is unhelpful.) When this arrangement goes well, there is a genuine collaboration between parents and the doctors. True, it requires not only medical competence and human empathy (for the child, for the parents, for the family) on the part of the doctors, but also trustworthiness, team work among intensivists and other specialists, and clarity of Hippocratic commitment to the health and well-being of the patient. Thus, good doctors – individually or as a hospital team – may sometimes have to make it clear that they cannot in conscience do what the child's parents ask them to do. In exceptional circumstances, for the child's sake, they may have to refer the matter of the child's treatment and care to the judgement of a court. Doctors owe this to the children, particularly when parents misunderstand the reason for recommending withdrawal or withholding of life-sustaining treatment and mistakenly conclude that the recommendation is itself a form of abandonment of their child.