""People weren't paying attention enough," he told BBC Radio Wales Breakfast. "She was failed by the NHS because of how long it took to diagnose her. "It went from Dani's legs not moving, to pretty much from the neck down she couldn't move anything," he said, adding that she was treated quite late. "Had she been screened at birth and treated, potentially she could have been walking, running, playing and being your typical child.""
""We are working to improve diagnosis of rare conditions and will consider any future recommendations from the committee", it said."
""probably never walk"."
Infants with spinal muscular atrophy (SMA) experienced delayed diagnoses that allowed progressive muscle wasting to advance before treatment. One child showed symptoms at five months and was diagnosed at 12 months, now relying on a wheelchair; another was diagnosed at six weeks despite signs in utero. SMA can cause death within two years if untreated. The NHS currently offers a five-day blood spot test for nine conditions and screens only siblings of known SMA cases. SMA UK calls for SMA to be added to newborn screening while the Welsh government awaits national screening committee recommendations.
Read at www.bbc.com
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