Newborn babies will be screened for spinal muscular atrophy (SMA), a rare progressive neuromuscular disease, Te Whatu Ora announced today.
This crucial initiative aims to detect SMA in infants as early as possible, allowing for timely treatment and improved health outcomes.
Approximately four to six babies are diagnosed each year with this rare genetic disorder, which destroys motor neurones in the spinal cord, causes progressive paralysis, and eventually impairs the ability to speak, ingest, and breathe. Frequently, the ability to sit and walk is severely compromised.
Dr Nick Chamberlain, National Director of Public Health at Te Whatu Ora, says, “Detecting spinal muscular atrophy through newborn screening will ensure babies receive treatment as soon as possible, maximising the benefit of the treatments Pharmac has recently begun funding.
“We know that the treatment has the best outcomes if it is delivered before people have any symptoms. I encourage all parents to ensure their babies take part in the newborn screening programme to give them the best chance for healthier lives.”
Screening for SMA will be added to the Newborn Metabolic Screening Programme (NMSP), which already screens over 98 percent of New Zealand newborns for more than 20 other rare disorders. Each year the programme screens about 60,000 babies and identifies around 60 cases of rare disorders.
It is expected screening for SMA will begin in 12 months. This will allow time to set up specialised equipment and put in place the clinical expertise and other resources needed to support this screening.
The exact course of the disorder and severity of symptoms differs by SMA type and age of onset. Life expectancy is less than two years in the most severe form of SMA (type 1) accounting for approximately 60% of cases. Most children with type 2 survive into adulthood. Types 3 and 4 do not usually affect life expectancy.
Dr Gina O’Grady, Paediatric Neurologist at Starship, says that SMA can also have a significant impact on whānau who need to care for those affected by SMA.
“We would like to acknowledge all those families affected by SMA who have been advocating for this new screening. Providing earlier detection and access to treatment will have a huge impact not only for the babies and children affected, but also the whānau who care for them,” Dr O’Grady says.