SMA newborn screening currently takes place in many European countries but thus far hasn't been implemented in the UK. The CPG met last Wednesday to hear from parents and clinicians on what it is like to live with SMA and the benefits of earlier diagnosis.
It was particularly poignant to hear from two parents of children with SMA. Though ever circumstance is unique, a common theme shared by both families was the long and arduous diagnostic journey they experienced. Both parents were able to pinpoint specific symptoms that went unnoticed by clinicians due to the rarity of SMA, which they referred to as a series of 'missed opportunities', some of which came only a few hours after birth.
We heard from one parent during the meeting, who particularly reiterated each step of their journey where a symptom was missed. For example, first their child was unresponsive to the 'Moro reflex test', which tests basic motor responses to a startling stimulus. A few weeks later, he was experiencing eating difficulties due to his weakened stomach muscles and despite seeing a GP and a lactation consultant, healthcare professionals suggested it was a latch issue that would resolve itself. It was only 2.5 months after his birth that it became very clear in a baby massage zoom call that he was moving significantly less than the other babies.
Given the rarity of SMA (approximately 1 in 10,000 live births), it is common that healthcare professionals overlook symptoms until they become more pronounced. Though there are now three effective treatments, they work most effectively when administered pre-symptomatically, and so it is vital to get the earliest possible diagnosis to ensure the best possible outcome for patients.
As such, the UK SMA Newborn Screening Alliance, which brings together key stakeholders including patient organisations, leading clinicians and academic researchers, is pushing for the introduction of SMA screening as soon as possible across the UK. MDUK is co-secretariat with SMA UK for the alliance. Additionally, the Scottish Government is developing a trial pilot study for SMA newborn screening, to provide positive evidence to demonstrate the efficacy of screening. This is on the back of a recent report calling urgently for newborn screening in Scotland.
Overall. the CPG meeting was insightful into the day-to-day lives of people living with SMA. Hearing these stories reaffirmed the urgency for introducing newborn SMA screening. MDUK will continue to work with the UK SMA Newborn Screening Alliance to campaign on the issue until every new parent in the UK has access to SMA screening.
Fo more information on the UK SMA Newborn Screening Alliance and our other campaigns, please get in touch with us at campaigns@musculardystrophyuk.org.