Recent public attention, including an announcement by Jesy Nelson regarding her twin daughters' diagnosis, has brought focus to the identification of Spinal Muscular Atrophy (SMA) in infants. SMA is described as a rare, progressive genetic condition causing muscle weakness, which, if untreated, can be fatal within two years.
Cases cited include Dani-Rae Brown, diagnosed seven months after initial symptoms and now using a wheelchair, and Lucian Neale, diagnosed at six weeks old after showing symptoms in utero. Lucian's mother, Samantha Williams, reported her early concerns were not initially acknowledged.
The Welsh government follows the guidance of the UK National Screening Committee (UK NSC), which does not currently recommend routine newborn screening for SMA. The UK NSC's 2018 review concluded against adding SMA to the screening list due to limited treatments and cost-effectiveness evidence at that time. The Welsh government has stated its commitment to improving the diagnosis of rare conditions and will consider any future recommendations from the committee.
Source: https://www.bbc.com/news/articles/c050p6e6093o?at_medium=RSS&at_campaign=rss