SMA Screening Concerns Ignored Before Jesy Nelson Campaign – Families Report
- The call for SMA to be added to newborn screening sprang to national attention and the health secretary, Wes Streeting,was quick to respond,saying Nelson was "right to challenge...
- "I'm persistent to look not just at screening for SMA, but to make much better use of genomic medicine," he said.
- But for many families affected by SMA, his intervention was bittersweet, with some saying their calls for the same kind of government action had been ignored for years.
When former Little Mix star Jesy Nelson announced her twins had been diagnosed with spinal muscular atrophy type 1 (SMA1),a rare genetic condition that causes muscle wastage,the news quickly made front page news.
The call for SMA to be added to newborn screening sprang to national attention and the health secretary, Wes Streeting,was quick to respond,saying Nelson was “right to challenge and criticise how long it takes to get a diagnosis”.
“I’m persistent to look not just at screening for SMA, but to make much better use of genomic medicine,” he said.
But for many families affected by SMA, his intervention was bittersweet, with some saying their calls for the same kind of government action had been ignored for years.
“I have been trying to raise awareness of the need for newborn screening for about four years. We’ve written many letters to Wes Streeting so it’s a bit of a kick in the teeth as he has known about it for a long time,” said Portia Thorman, head of advocacy and community at the charity SMA UK.
Her nine-year-old son, ezra, has SMA1, ending up in intensive care as a newborn before he was diagnosed, and the struggle they faced to get timely treatment led her to pursue a role in campaigning on the issue.
“We have pretty much been ignored, especially by parliamentarians, and it feels like because it’s a rare disease and it is not impacting the masses or impacting their votes, they have just really brushed it aside,” she said.
Thorman added that Streeting was previously invited to visit a pilot study of newborn screening for SMA at the University of Oxford but declined.
Newborn Screening for Spinal Muscular Atrophy (SMA) to Begin in England
Table of Contents
England will begin screening all newborns for Spinal Muscular Atrophy (SMA) in April, joining a growing number of countries implementing this vital health check. The screening aims to identify infants with SMA early, enabling prompt treatment and considerably improving their health outcomes.
What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy (SMA) is a rare genetic disease that affects motor neurons, leading to muscle weakness and atrophy. It’s caused by a deficiency in the protein survival motor neuron (SMN). The severity of SMA varies, but it can be life-threatening.
Approximately 1 in 10,000 babies are born with SMA globally. Cure SMA estimates that around 10,000 to 14,000 babies are born with SMA worldwide each year.
The Newborn Screening Program
The screening process involves a simple blood test taken from the baby’s heel, typically within the first few days of life. If the test indicates a potential case of SMA, further confirmatory testing is conducted.
The UK government announced the program on january 11, 2024, stating it will begin in April. This follows successful implementation of newborn screening programs in other nations.
Countries Currently Screening for SMA
Several countries have already implemented nationwide newborn screening programs for SMA, demonstrating the effectiveness of early detection and intervention.
- United States: The Centers for Disease Control and Prevention (CDC) recommends newborn screening for SMA as part of its Recommended Uniform Screening Panel.
- Germany: Germany introduced nationwide newborn screening for SMA in 2021.
- Japan: Japan began screening for SMA in 2023.
- Ukraine: Ukraine also has a national SMA screening program in place.
The Importance of Early Diagnosis and Treatment
Early diagnosis of SMA is crucial because treatments are most effective when started before significant muscle damage occurs. new therapies, such as gene therapy (Zolgensma) and SMN-enhancing drugs (Spinraza and Evrysdi), can dramatically improve the lives of children with SMA.
Molly Everitt, 23, whose son was diagnosed with SMA at 6 months old, told the independent that early diagnosis coudl have changed her son’s life.Without early intervention, children with SMA may experience progressive muscle weakness, difficulty breathing, and reduced life expectancy.
Further Details
For more information about SMA and the newborn screening program,please visit: