Daily Mail, Wednesday, March 4, 2020^ Page 33
Left paralysed: Connie Elson with her little brother Joe
By Claire Ellicott
Political CorrespondentWHEN Connie Elson was diag-
nosed with a rare disease at the
age of five, it was already too late
for doctors to stop it.
By then the bright and independ-
ent little girl was losing her ability to
walk, talk and eat as the degenera-
tive brain condition known as MLD
paralysed her young body.
But while her diagnosis was devastating
and has led to a life of dependency for
Connie, it spared her three-year-old
brother Joe – who had also inherited the
condition – allowing him to be treated
before it could take hold.
Connie’s parents Nicola and Ian say the
fates of their son and daughter illustrate
just how important it is to catch condi-‘No longer able to
talk, sit up or eat’countries and now trails the likes
of Poland, Hungary and Slovakia
in testing for severe conditions.
Tory MP Nickie Aiken is leading
efforts to bring the UK into line
with countries such as the US,
which tests for up to 59 condi-
tions, Iceland, which tests for 47,
and Italy, which tests for 43.
Mrs Elson said: ‘Joe was diag-
nosed on time only because of
Connie. We wish we could have
known sooner about Connie and
given her a chance.
‘She went from being a very
happy and independent little girl
to completely dependent on oth-
ers. She is no longer able to walk,talk, sit up and even eat. Newborn
screening would have caught Con-
nie’s condition early.
‘The UK is so far behind many
other European countries and
that needs to be addressed as a
matter of urgency.
‘Our children are the most
important things in the world and
right now they are being let down,
it needs to change.’
Mrs Elson, from Cumbria, said
that up until the age of four Con-
nie was like any other little girl.
But her parents became worried
when she began school and was
unable to concentrate and becameclumsy. They initially put this down
to her having trouble settling into
school but soon realised it was
more serious and tests eventually
revealed she had MLD. Two
months after her diagnosis she
took her last steps and just a few
months later spoke her last words.
Five years on, Connie is com-
pletely dependent on her parents
for every aspect of her care.
She has to take a cocktail of
drugs to try to keep her as com-
fortable as possible. She has lost
her memory and sight, and suffers
seizures. Doctors were unable to
offer Connie treatment as the dis-ease had progressed so swiftly.
But as Joe had yet to show symp-
toms he was offered pioneering
gene therapy treatment in Italy.
He is doing well.
Mrs Aiken, the new MP for Cities
of London and Westminster, is writ-
ing to every MP to win their sup-
port for expanding the heel-prick
test screening programme, which
would cost just £42 per child.
Yesterday a leading specialist in
rare diseases in children said red
tape was the reason Britain was
falling behind. Bobby Gaspar, pro-
fessor of paediatrics and immu-
nology at University College Lon-don, said: ‘Other countries have
managed to do this in a much
shorter time. There is a sense of
caution in the UK. It is a bureau-
cratic process and the criteria are
applied too stringently.
‘Given that we are one of the
most technologically advanced
nations, and we have such pride
in the NHS, it seems anomalous
that we’re not screening for
these conditions.
‘In the post-Brexit era we don’t
want to be at the bottom of inter-
national league tables.
‘We want to have pride in our
independent nation.’tions early. They are backing a campaign
to expand the heel-prick test which is
given to all newborns so that it includes a
far wider range of conditions, including
MLD – metachromatic leukodystrophy.
Britain, which tests for just nine dis-
eases, is far behind many developedTest for rare
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