Spinal Muscular Atrophy Palliative Care

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Palliative Care Issues

From Consensus Statement for Standard of Care in Spinal Muscular Atrophy

In most circumstances in the course of medical practice, the goal of therapy – to further quality and extent of life – is straightforward. In the case of patients with spinal muscular atrophy, however, the appropriate goal of therapy may not be clear. Some therapies may be perceived as placing quality of life in conflict with duration of life, prolonging suffering rather than relieving the burden of disease. Thus, there is little national or international consensus about the appropriate level of care, and local experience, training, habit, and resource availability appear to have a large effect upon recommendations and ultimately family decisions about interventional support. Although not surveyed formally, the committee is aware of a similar broad range of practice regarding appropriate pulmonary, nutritional, orthopedic, and other forms of therapy.

Optimal clinical care for these patients should be mindful of potential conflict of therapeutic goals. This conflict is made more difficult by the need for surrogate decision makers for a dependent infant and the fact that many – including parents, siblings, other relatives, caregivers, payers, and the wider community – will be affected by and thus have some valid interest in care decisions. The committee reached consensus that these conflicts are real and that there is no moral imperative to any therapy. There is, however, a deep responsibility to present care options in an open, fair, and balanced manner.

A choice for or against interventional supportive care is not a single binary choice, nor must it be unchanging with circumstance. There are, however, some interventions that are better done early so as not to constrain later potential assistance. For example, placement of a gastrostomy tube is better done relatively early, when associated risks are lower, to provide more stable and comfortable nutritional support later when feeding is more tenuous. Similarly, it is important to discuss and determine the appropriate response to potential life-threatening respiratory insufficiency, as emergency resuscitation and endotracheal intubation during times of crisis without prior respiratory support are associated with many more problems in care than when decisions are made in advance. If appropriate, other forms of noninvasive respiratory device that might reduce the potential for emergent respiratory support should be introduced according to increasing need. Whenever possible, caregivers should ideally permit sufficient time after diagnosis prior to discussing these difficult issues; in all cases, sufficient time, honest appraisal of the choices, openness to revisiting decisions made, and personal rapport are essential to these discussions. If appropriate, other family members or trusted friends or spiritual advisors should be invited. End-of-life care decisions need to be defined and neither delayed nor aggressively foisted upon unsuspecting, grieving, and stunned parents.

Care for patients with spinal muscular atrophy is often best accomplished with a multispecialty team approach, when possible. Successful teams have a point person who is mindful of the many needs and can obtain appropriate medical, social, and spiritual assistance as appropriate. In addition, hospice referral or other provision for the specific issues regarding terminal care, grief, and bereavement support is important. In the circumstance of a choice against mechanical ventilatory support, appropriate provision for management of terminal dyspnea can be of comfort to the patient and family alike. Use of nebulized narcotics can avoid much of the concern that overdosing contributes to death and provide comfort to the patient.