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Table 2: Description of Participants.

To foster dialogue, the summit first divided participants into two groups, one for SMA-1, one for DMD. Drawing on the concept of disease trajectories in genetic conditions [30,31], each group described the typical trajectory for their respective condition, identified transition points, and created a visual representation of the trajectory.

The rest of the summit involved group discussions led by interdisciplinary professionals who were experienced facilitators. Based on their experience and expertise, participants were assigned to six groups, three focused on SMA-1, three on DMD. All six groups addressed elements of palliative care, with one group from each disease focused on (1) communication and decision making, (2) ethical and cultural challenges, and (3) pain/suffering and spiritual care.

Results

A total of 53 interdisciplinary professionals and families, including the project team, attended the summit. As shown in (Table 2), 40% of the participants were clinicians with expertise in pediatric NMDs, 35% were specialists in PPC, and 25% were patients and family members or their advocates. Among the parents were those who had lost a child and those whose children were still living.

Participants identified four phases, predictable in sequence but variable in duration and velocity, in the life trajectories for children and families affected by SMA-1 and DMD, as depicted in (Figure 2).

Figure 2: Changes in Functional status and Corresponding Responses.

The peri-diagnostic phase encompasses a long process that may begin prenatally, at birth, or during childhood. There may be suspicions that the fetus is abnormal before birth, if parents already have an affected child or non-specific findings such as ultrasound abnormalities are detected. Families characterize this process as an “odyssey” marked by uncertainty, anxiety, grief, and loss.

The treatment decision-making phase focuses on managing symptoms, optimizing function, enhancing quality of life, and monitoring developmental progress. It involves initiating treatments (possibly enrollment in a clinical trial) to slow the disease progression and anticipating life-threatening events that will require decision making. These decisions present a range of ethical considerations, such as whether to undergo genetic testing or involve their children in decision making.

The third phase involves life-threatening events such as respiratory failure, sepsis, and pneumonia. Life-sustaining therapies including mechanical ventilation, medications, or other invasive technologies are initiated; periodic discussions regarding their continuation follow. Each event creates uncertainty: can the child’s functional status be restored or does the latest crisis represent irreversible disease progression? Families characterize this phase as a “roller coaster ride”, accompanied by a resurgence of grief and loss. Eventually, life-sustaining therapies lose their efficacy, and dying seems inevitable.

The terminal phase involves a relatively predictable trajectory, although the length of the dying process is variable, especially for children with DMD who may live into their 20s, creating uncertainty as to when death will occur. This phase also includes the actual death and the bereavement process, times when families perceive the risk of abandonment to be high.

The four phases are marked by changes in functional status. Progressive muscle weakness results in impaired mobility, breathing, and activities of daily living. Complications and the need for interventions increase. The disease progression affects the developmental maturation that all children experience; children with DMD may develop learning disabilities or behavioral problems. Patients and families respond to declines in functional status with feelings of fear, anger, grief, loss, and spiritual distress.

Opportunities for Integration of Palliative Care

As shown in (Table 3), participants identified opportunities for integrating palliative care in each phase, while noting several distinctions due to differences between SMA-1 and DMD.

Table 3: Opportunities for Integration of Palliative Care.

First, the timeframes vary due to differences in life expectancy. As we had anticipated, participants were receptive to early discussions about end-of-life care for families of patients with SMA-1, but not for families with DMD. When death is not imminent but expected at some unspecified time in the future, participants perceived the focus on the end of life as signifying the abandonment of curative efforts. When palliative care was reframed to encompass activities, such as “meaningmaking”, that reinforce living life in the moment, participants embraced opportunities for early integration of palliative care, even for families with DMD.

Second, a distinction arises from the modes of inheritance. An X-linked disorder, DMD is transmitted by the mother alone; SMA- 1 is an autosomal recessive condition shared between parents. Both diagnoses carry reproductive risks for family members, but the nature and impact of those risks vary. In the case of DMD, the family may struggle with feelings of guilt and blame. In the case of SMA-1, parents adjusting to life with a new baby are confronted with decisions about diagnostic and genetic testing, treatment, and end-of-life care. These differences in genetics impact communication and decision making in the early stages of diagnosis and treatment.

A third distinction, unique to families with DMD, is how and when to involve children and adolescents in decisions about treatment, endof- life care, and quality of life issues related to developmental concerns such as dating, sexuality, reproductive issues, college, career choices, and independent living.

Five themes emerged spanning all phases of the trajectories and both diagnoses, regarding the relevance of palliative care principles and practices to members of the healthcare team. Focused primarily on communication and relationships, these themes highlighted the importance of the following:

1. Coordination across the range of specialists and care settings, including home care, hospitals, long-term care facilities, rehabilitation, and hospice.

2. Regular family and team meetings, including ethics and palliative care consultants, to discuss the patient’s condition, family needs, and future decisions.

3. The primary care team’s central role throughout the disease trajectory and involvement at each transition.

4. Support for children and their parents in addressing uncertainties throughout the diagnostic and treatment process and finding hope and meaning.

5. Formalized strategies to support clinicians who care for these children and families in their own self-care, coping, grief, bereavement, and moral distress.

The participants acknowledged that the uncertainties that arise in caring for children with life-threatening NMDs, coupled with the increasing availability of therapies and technologies, create complex ethical quandaries for families and clinicians [16]. Such quandaries are exacerbated by the certain knowledge, from an early age, that these diseases are fatal. Some of the ethical challenges include questions about the desirability and effectiveness of life sustaining therapies–both proven and experimental, advance care planning including involving minors in decision-making, and the moral implications of inherited disease including the benefits and risks of genetic testing and screening. Embedded in these issues are questions involving informed consent and end-of life care. The ethical permissibility of the various potential clinical paths is a source of concern and confusion for clinicians and parents.

Participants identified barriers to palliative care integration. Attitudinal barriers included, first, concern that adopting a palliative care framework could be interpreted as losing hope and abandoning curative efforts and, second, resistance to communicating with families and clinicians about values and preferences for life-sustaining therapies, palliation, and end-of-life care. Structural barriers included a lack of infrastructure within communities and to support the integration of palliative care, and lack of sustainable funding and models for collaboration, decision making, and communication across disciplines and care settings.

Clinicians acknowledged that the more medically oriented aspects of palliative care focused on functional status, mobility, and symptom management are currently part of clinical practice but not viewed as “palliative care” per se. With few exceptions, the components of palliative care focused on psychosocial and spiritual issues have yet to be integrated. Moreover, countries vary significantly on how to integrate end-of-life and neuromuscular care.

Discussion

The summit validated the relevance of palliative care principles in cases of SMA-1 and DMD, and articulated a framework to guide clinicians, families, and patients as they navigate the disease progression, regardless of timing or duration. The framework includes advance care planning, concurrent provision of disease-focused care and palliation, enhanced communication and decision making, attention to ethical issues, team functioning and support, and improved quality of life by reducing pain and suffering. These are complementary to recent guidelines for the care of patients with Duchenne Musclar Dystrophy [4,5] which call for greater attention to wholistic, patient/family centered, coordinated care.

The summit affirmed that restoring health means more than curing an illness or eradicating a disease. It enables children and their families to respond to health, illness, disability, and death in their own unique ways, while clinicians apply their knowledge and skills to achieve shared goals. A palliative care framework focused on goals and outcomes creates a shared process and language for communication and decision making [37], aspects often lacking in neuromuscular care. The integration of PPC with curative interventions empowers healthcare professionals, patients, and families to simultaneously seek cures and pursue the day-to-day goal of optimizing life.

Participants, particularly clinicians, worried how acknowledging death as a predictable outcome of the disease would affect children and their families. Several strategies may help resolve between this tension between “hoping for the best” while “planning for the worst” [38]: (1) Lessen resistance to end-of-life discussions by creating more opportunities early on for clinicians, children, and families to explore issues and engage in shared decision making; (2) Foster collaboration by addressing the perception of some clinicians that shared decision making requires them to relinquish control over decisions; and (3) Facilitate communication by reframing palliative care as a new vision of hope [39-43] focused on living rather than dying, and (4) developing systems to address the ethical issues that arise in the care of these patients [16].

Removing the barriers to PPC will require education about the intersection of palliative care and neuromuscular disease care. Implementing system-wide changes will be influenced by broader healthcare system constraints that are unique to each country.

Barriers to integration vary between countries. For example, the United Kingdom has been a global leader in offering comprehensive care through regional hospice programs [29]. Although we did not conduct a systematic comparison of participating countries, evidence suggests a number of cultural differences [44-45]: willingness to talk about death and dying or to involve children in decision making; paternalistic vs. autonomous decision making; and differences in integration of people with disabilities into their communities. Longitudinal studies exploring the disease trajectories and their impact on patients, families, and care provision are needed [46].

The generalizability of our findings is limited by two aspects of study design. Selection criteria required a muscular dystrophy association as well as palliative care and neuromuscular disease teams, keeping the number of participating countries small. Interdisciplinary representation varied among teams; frequently clinician leaders did not identify nurses as key team members, perhaps reflecting countrywide differences in the status of various disciplines.

Despite these limitations, our findings support the early integration of palliative care for children with NMDs. Although perhaps more immediately relevant in cases of SMA-1[33], a palliative care framework can facilitate goals for DMD, including pain and symptom relief, enhanced quality of life, creation of meaningful experiences with family and friends, and spiritual well-being. Advance care planning [47] is especially important in cases of DMD, given the increasing life expectancy and periods of stability and crisis [48] that characterize its trajectory.

Integration of palliative care can help clinicians balance professional and ethical obligations. Clinician integrity is threatened by myriad factors: the competing interests of patients, families, and other team members; the organization where they practice; even their own behaviors and feelings. Pediatric professionals need support systems [49], and the palliative care framework provides clinicians with the knowledge and skills the care of children with NMDs demands.

The summit underscored two conclusions. First, clinicians can discuss difficult issues with NMD patients and their families, explore challenges, and create a shared vision of care. Second, there are opportunities to integrate PPC at each point of transition in the progression of NMDs.

These findings provide the foundation for a global dialogue about cultural differences and spiritual aspects of palliative care [50] and experiences in integrating palliative principles into care for children with NMDs. In addition, these findings offer a foundation for integrating palliative principles in the care of children with life-limiting conditions such as cystic fibrosis and sickle cell disease, and strengthen the recently released Practice Guidelines for Quality Palliative Care, developed as a blueprint for such care [22].

Acknowledgements

This project is dedicated to Mattie J. T. Stepanek and all the children and their families worldwide who live with neuromuscular diseases. We are deeply grateful to the Heartsongs participants, the clinicians and staff of Martin House Pediatric Hospice, Lois Gould, Judith Douglas, the Berman Institute of Bioethics, and the generous funding from the Stavros Niarchos Foundation. The funders were not involved in the design and conduct of the project, or collection, analysis, or interpretation of data or manuscript preparation. Drs. Rushton and Geller as International Co-Directors had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

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