Our children waited too long for the same diagnosis as Jesy Nelson's twins
Summary
The article discusses the challenges parents face in getting timely diagnoses for their children with Spinal Muscular Atrophy (SMA), a serious genetic disease. It mentions cases where children waited months for a diagnosis that could have been identified earlier. The article calls attention to the need for routine newborn screening for SMA.Key Facts
- Spinal Muscular Atrophy (SMA) is a genetic condition that causes muscle weakness and can lead to death if untreated.
- Parents of children with SMA reported delays in receiving a diagnosis, even after showing early symptoms.
- SMA is currently not included in routine newborn screening by the NHS in the UK.
- SMA UK, a charity, is advocating for newborn screening to include SMA.
- Dani-Rae Brown was diagnosed with SMA seven months after symptoms appeared and now uses a wheelchair.
- Jesy Nelson, a former Little Mix star, revealed her twins have SMA, raising awareness about the condition.
- The Welsh government follows the UK National Screening Committee, which does not recommend routine SMA screening yet.
- SMA can be diagnosed through a blood test, although there is no cure currently.
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