The recent death from motor neurone disease (MND) of former Scottish rugby international and British Lion Doddie Weir OBE (1970–2022) has renewed focus on this neurodegenerative condition.
Around 5000 people in the UK have MND (Mahase, 2022), and around 2% develop the disease because of a faulty gene named superoxide dismutase 1 (SOD1). Although there is no cure for MND, there may be grounds for optimism. Following a recent phase 3 trial, Miller et al (2022) reported that the administration of tofersen ‘led to greater reductions in concentrations of SOD1 in CSF and of neurofilament light chains in plasma than placebo.’ The trial missed its primary endpoint of significant clinical improvement at 28 weeks, but when it was extended to 52 weeks, ‘the researchers said there were notable changes in motor and lung function’ (Mahase, 2022). Mehta et al (2021) reported new developments in mitochondrial bioenergetic deficits in MND motor neurones that could help ‘discover novel therapeutic agents for this devastating disease.’ Further, the European TRICALS Initiative (2022) comprises 48 research centres in 16 countries, collaborating with patients' organisations and fundraisers and aiming to find a treatment for MND within five years.
With continuing economic austerity, the question arises of the appropriate allocation of limited resources to find effective treatments and/or cures of rare disorders. It is notable at the outset that when Moore et al (2017) reviewed economic studies in MND, they concluded: ‘Economic evaluations in MND suffer from significant methodological issues such as a lack of data, uncertainty with the disease course and use of inappropriate modelling framework.’ This bleak context should be born in mind with Hyry et al (2014) suggesting that those suffering from treatable rare disorders have become ‘a public symbol of perceived fiscal excess in modern medicine.’ While acknowledging that cost-based arguments to deny funding for these disorders may appear superficially attractive, Hyry et al (2014) consider that health economic approaches are not only limited in different ways; they are ‘inadequate as the sole basis for making decisions about treatment but, if appropriately devised, will have targeted use in the orphan disease context and beyond …’
However, if treatable rare disorders can be ‘a public symbol of perceived fiscal excess in modern medicine’, as Hyry et al (2014) suggest, how might those suffering from hitherto untreatable rare disorders such as MND be expected to fare? An early warning of how some approach this question came from the late philosopher Baroness Mary Warnock (1924–2019), who told the Church of Scotland magazine Life & Work in the context of dementia: ‘If you're demented, you're wasting people's lives – your family's lives – and you're wasting the resources of the National Health Service’ (White, 2008). Warnock's consequentialist strain of moral philosophy – one of whose tenets is that human life has little intrinsic value but can only be measured in terms of its quality – coheres with a moral judgement whose sole validation is a justifying frame of solid theoretical reasoning. However, beyond the rarefied confines of academia, it is just as valid to arrive at a moral judgement that is informed by intuition, emotion, direct experience, and a sense of familial kinship, all of which would be recognised by many MND patients and their carers.
Although Kacetl et al (2020) acknowledge that investing money in rare conditions may be deemed unjust and unethical from the utilitarian perspective that was favoured by Baroness Warnock, they nevertheless contend that ‘[o]n the other hand, there are moral obligations of non-abandonment and beneficence.’ Societal and individual values need not be irreducibly different. All we need to do as individuals who contribute to society is accept that many of us have managed to avoid MND – so far – by luck, and that one way of showing gratitude is to help those who haven't shared our luck. Those with MND, plus their carers, deserve as much funding for research and quality-of-life enhancement as society – that's us – can give.