Advance care planning matters.

Abstract

New genetic techniques and advances in neuroscience generally have brought a much greater understanding of the biological basis of disabling conditions affecting children and young people. New genotype–phenotype correlations are discovered seemingly every day, with the online DECIPHER database now containing data on more than 18 000 people. Sometimes making a specific diagnosis brings opportunities for novel treatments – some of which may be life-changing. However, even in the 21st century, most disabling conditions cannot be ‘fixed’.1 The focus rather is on what can be best managed to reduce symptom burden, thereby enhancing participation in everyday activities and quality of life for the child. Many of the conditions associated with the primary diagnosis are modifiable if correctly identified, including pain, constipation, disordered sleep, spasticity, dystonia, musculoskeletal deformities, drooling, etc. The clinician also needs to keep a weather eye on the barriers to meaningful inclusion, participation, and quality of life for each child, because professional advocacy may help to address these issues. For example, a letter to the housing provider or occupational therapist may expedite necessary home adaptations or a letter to the school outlining physical or attitudinal adjustments could be required to better meet the needs of a child with obvious or hidden disabilities. Whilst treating the treatable and constantly looking for opportunities to enhance participation and quality of life, the clinician caring for disabled children and young people must also be mindful of the possibility of sudden and unexpected death and know how to diagnose dying.2 It is only by recognizing these possibilities, uncomfortable though it may be for the clinician, that the child, young person, and their family may be afforded the possibility to consider their personal wishes, make choices about aspects of their care, and contribute to important aspects of decision-making.3 Clinicians may be familiar with the concept of sudden unexpected death in epilepsy (SUDEP). Families who have lost a child due to SUDEP report that their bereavement is more difficult if they do not know in advance that sudden and unexpected death is a possibility; many support organizations have developed internationally around this need. In children, evidence suggests that SUDEP is rare where epilepsy occurs in isolation and it is rather the accumulation of multiple health conditions and issues affecting those who are most dependent on others for all aspects of their care that leads to increased risk.4 Epidemiological studies of childhood deaths evidence the significant proportion with disabling conditions.5 Reflecting on this, how good are we at recognizing those children and young people in our clinics and on our wards who are at increased risk of death and do we always discuss this openly with families? Discussing the possibility of sudden and unexpected death can pave the way with the child or young person and their family to explore their wishes in the event that death may be imminent. If we do not have the courage to embark on these difficult conversations, we may deny families the opportunity to contribute to decision-making about end of life care and thus inadvertently complicate their bereavement journeys. It may be useful to use a process of emergency health care planning to underpin and record such discussions, recognizing that the wording may evolve over time from a statement that affirms a disabled child's right to full resuscitation and intensive care through to one that confirms that symptoms will always be carefully managed, the family always supported, but that when the time comes, the child will be allowed a natural death. Resources to support emergency health care planning and advance care planning, including videos enacting the conversations that underpin the process and reflections from families, may be useful for teaching clinicians about these important aspects of the art of medicine.6, 7