I was struck by a recent article in the Huffington post, written last month by Rachel Adams, a mother of a child
with Down's syndrome. The article was written in response to Jane Brody's piece in the New York Times: a piece that heralded the developments in prenatal
screening for Down's syndrome using non-invasive prenatal testing (NIPT). Clinical trials for this technology are commencing in the UK this month (as reported in
In her article, Brody made the
point that NIPT screening allows pregnant women to find out earlier whether their fetus has Down’s syndrome (without the risk of
miscarriage associated with previous forms of prenatal testing), and
consequently to consider whether or not to continue with that pregnancy.
Brody's article, as Adams
points out, was unfortunately timed - October was Down's Syndrome
Awareness Month in the USA. The poignant juxtaposition of this push to raise awareness of
a condition which Adams describes as a 'livable disability' with the
celebration of technologies designed to make its prenatal detection easier
(and, presumably, also make the associated process of selective termination
swifter and more bearable for women) was jarringly highlighted by both articles.
One of the points that
particularly caught my attention in Adams' article was her push to free Down's syndrome
from the language rife in Brody's commentary - that of 'disease', of 'risk' and
of 'defect'. Instead, Adams convincingly argues, many people living with Down's
syndrome can instead be described as the 'healthy' disabled, living
successfully and happily with their impairment, free of many of the medical complications
possible with their condition. As Adams argues, for this group of individuals,
the word 'diseased' seems inappropriate, replete with negativity and notions of
suffering that, for many people, are entirely misplaced.
This distinction between the 'healthy
disabled' and 'suffering' brings me to the issues around another potential
screening programme, and one for which the UK National Screening Committee launched a national
consultation in May this year - that is, for spinal muscular atrophy (SMA).
Spinal muscular atrophy is a condition that affects
the nervous system and caused generalised muscle weakness. It is recessively
inherited, meaning it takes two carrier parents to transmit it. While it lacks
the high profile of Down's syndrome, between one in 40 and one in 60 people in
the UK are thought to be carriers (1). SMA is unusual in its high variability -
indeed, it has been described as the most variable neuromuscular condition
presenting in childhood (2).
In its most severe forms, SMA
is associated with acute respiratory failure, and, sadly, infantile death,
often before 18 months of life (although there are reported cases of children with
the severest form of SMA outliving this expectation). However, in its
intermediate and milder forms, SMA has the potential to present as the 'livable'
disability to which Adams refers.
Unlike 50 years ago, when intermediate
SMA was considered a life-limiting condition, developments in medical and lay
knowledge about treating scoliosis (spinal curvature), chest clearance to
remove obstructions from the lungs during a chest infection and physiotherapy have
meant that individuals are often (although not always) able to live full and
satisfying lives. They are no longer so encumbered by the medical complications
that can accompany such neuromuscular conditions, the most concerning of which remains
susceptibility to chest infections such as pneumonia.
This great variability - the
possibility of SMA presenting as a terminal condition or a 'livable' disability
- poses huge ethical and social dilemmas in terms of the implementation of a
national screening programme. Indeed, the technologies used to screen for SMA
cannot as yet accurately predict where on this spectrum of severity a child's
SMA will lie, nor the myriad of other factors determine how the child's SMA
will actually be experienced.
As Adams' piece brought home
for me, the medical language surrounding screening programmes may make it
difficult for prospective parents to see the words 'healthy' and 'disabled' as
anything but mutually exclusive in the context of the conditions for which
screening is currently offered. However, with the national consultation on SMA
screening currently in full swing, now may be the time to seriously re-consider the sometimes
hazy lines that exist between the terms 'disabled' and 'able', 'healthy' and 'diseased'.
Indeed, it is in the context of screening programmes that such terms become