Dear Editor,

IS A LIFE WORTH LIVING?

One important factor omitted from your otherwise excellenteditorial1 and associated report2 and review3 of the ethics oflong-term ventilation of infants with spinal muscular atrophy isthat death at 1–2 years of age is not accompanied by thepatient’s comprehension of dying. Dying in infancy is likely tobe much less distressing for the patient than when dying isaccompanied by awareness later in life. Compassion, whichmust underlie all ethical decisions, dictates that a less distressingdeath in infancy is preferable to dying later, after a few years ofdistressing life. I personally believe it was not compassionate,and therefore was unethical, to offer long-term ventilation ini-tially to the subject of the case report. Doctors are not requiredto provide treatment which they regard as unethical and thedecision to offer ventilation would have involved managementof the parents, not the patient.

Now that the child is eight years old, and apparently hasreached an age of conscious awareness of her predicament, herpotential distress caused by awareness of imminent death is astrong argument against a compassionate withdrawal of treat-ment. The situation now is very different from the situation ininfancy when it would have been better not to have com-menced ventilation. Nevertheless, the same compassionate

approach can still be used to arrive at an ethical answer to thequestion of ‘is this life worth living?’ Decision-making is ethicalonly if it is based on compassion. However, compassion-basedethical decisions are sometimes very personal and individual,and different people can place more or less importance on theamount of compassion in two different courses of action. Pro-vided the decisions are based on compassion, both courses ofaction are ethical. The parents, who are the final decision-makers, can compassionately and ethically decide either towithdraw treatment or alternatively, to continue ventilationand perhaps end up with another person like Stephen Hawkins.If a decision is based on compassion, it is right for the personwho makes the decision and who has to live with it for the restof their life. We cannot measure compassion objectively so per-sonal ethics based on the parents’ compassion, need to berespected, and not the ethics of a committee or judge.

Dr Harley PowellRoyal Children’s Hospital, Parkville, Victoria

Australia

References

1 Isaacs D, Kilham H. Will this be a life worth living? J. Paed. Child Health2013; 49: 793–4.

2 Gray K, Isaacs D, Kilham HA, Tobin B. SMA type 1: do the benefits ofventilation compensate for its burdens? J. Paed. Child Health 2013; 49:807–12.

3 Tassie B, Isaacs D, Kilham H, Kerridge I. Management of children withspinal muscular atrophy type 1 in Australia. J. Paed. Child Health 2013;49: 815–19.

Image of the Month: Answer

This 7-month-old boy has Menkes kinky hair syndrome (Fig. 1a,b,c).Menkes disease is a rare (one case per 300 000) X-linked lethal multi-system disorder caused by a defect in intestinal copper transport

with associated low serum copper and ceruloplasmin levels due to mutation of p-type ATPase (ATP7A) gene. Symptoms of Menkeskinky hair syndrome are noted within the patient’s first few months of life. The clinical phenotype is marked by progressive neurologicdeterioration, fine silvery wiry hair, doughy skin, and connective tissue disturbances. Neurologic problems include gross mentalretardation, recurrent convulsions, cortical atrophy, asymptomatic subdural effusion, hypotonia of truncal musculature and progressiveneurological deterioration. Seizures usually begin within the patient’s first few days or months of life, while hypotonia and develop-mental delays are typically noted during the patient’s first year of life.

Common early physical features of Menkes kinky hair syndrome are microcephaly; distinct facial features; and silvery, wiry scalphair. Hair changes, which may not be present at birth, include pili torti (most common but not pathognomonic), trichorrhexis nodosa(localized splitting of hair shaft causing nodes) and steel wool-like hair. The eyebrows may be sparse, broken, and horizontal with sparseeyelashes. The skin, in general may be hypo-pigmented, pale, mottled (cutis marmorata pattern), doughy and lax. The cheeks may bepudgy, and a Cupid’s bow upper lip may be present.

Progressive neurologic deterioration occurs in patients with Menkes kinky hair syndrome. Death, usually due to pneumonia, occursby the time the patient is aged 2 or 3 years.

Conflict of interest: None.

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Letters to the Editor

Journal of Paediatrics and Child Health 50 (2014) 418–420© 2014 The Authors

Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians)

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