Rare Disorders NZ has written to the Minister of Health
asking her to urgently look into why no progress has been
made to include spinal muscular atrophy (SMA) in the newborn
screening programme, despite Pharmac approving two
life-saving therapies for pre-symptomatic treatment of the
degenerative disease.
Spinal muscular atrophy (SMA) is
a rare inherited neuromuscular condition that leads to
progressive muscle wasting. Infants with the most severe
form, type 1 SMA, die within the first two years of life.
Without treatment it is the most common genetic cause of
death in infancy.
“We have all the tools in New
Zealand at the ready to be able to nip this awful disease in
the bud before any deterioration occurs in affected infants,
yet we are not utilising them. If the lack of progress to
begin screening for SMA is an oversight, it needs to be
rectified immediately, and if there is a particular reason
not to pursue it, this needs to be communicated,” says
Chief Executive of Rare Disorders NZ, Chris
Higgins.
“It is unacceptable to allow one single
child to suffer deterioration from this disease now that
treatment is finally being funded by
Pharmac.”
Currently in New Zealand SMA is only
diagnosed clinically once symptoms have begun, and delayed
diagnosis is common, as the symptoms are similar to those of
other diseases. Deterioration occurs rapidly, with infants
with type 1 SMA losing almost all motor nerves by the time
they are three months of age. All trials for SMA treatment
have shown that treating pre-symptomatic infants yields much
better clinical outcomes than treating symptomatic infants,
as the disease is irreversible and lost motor neurons cannot
be restored.
Newborn screening for SMA is already
happening in a number of countries worldwide, and Australia
is rolling it out nationwide this year. With an already
well-established screening programme in New Zealand and the
capabilities to screen for severe combined immune
deficiencies, implementing genetic testing for SMA should
not pose major challenges.
“The cost is too high not
to include SMA in the newborn screening programme – to the
child, to the family, to the health system. Let’s get this
right, and then let’s find out why it took so long to get
it right,” says Higgins.
About Rare Disorders
NZ
Rare Disorders NZ is the only national
organisation supporting all New Zealanders who live with a
rare condition, and the people who care for them. Rare
Disorders NZ offers a central starting point for patients
and families affected by rare disorders, and helps families,
patients and healthcare providers find essential information
and support
groups.
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