A renowned TV childcare expert has shared her distress over medical professionals dismissing her worries about her daughter’s health. Laura Amies, with over two decades of experience in infant care and her own television program, revealed that her concerns were repeatedly overlooked. It wasn’t until Laura sought the opinion of a private specialist for her seven-month-old daughter, Elisabeth, that she discovered the devastating diagnosis of Spinal Muscular Atrophy (SMA) Type 1, a rare genetic condition with a life expectancy of under two years.
Despite her extensive knowledge in child psychology and numerous published books on infant care, Laura expressed frustration at doctors consistently disregarding her alerts. She had noted early on that her baby was displaying concerning symptoms, such as difficulty feeding and the appearance of unusual marks on her arms.
Recalling a distressing incident shortly after Elisabeth’s birth, Laura described a moment when her baby’s skin turned blue, signaling a lack of oxygen. She felt medical staff initially downplayed the situation due to her being a first-time mother but eventually intervened to assist.
Laura recounted numerous instances where her concerns were dismissed over the following months, with doctors attributing symptoms to common issues like reflux. Even when Elisabeth showed signs of respiratory distress, Laura felt her fears were not taken seriously until she sought a private specialist’s opinion.
The eventual diagnosis of SMA highlighted the severity of Elisabeth’s condition, explaining her deteriorating physical abilities and breathing difficulties. Laura emphasized the importance of early detection and treatment for SMA, as delayed intervention can result in significant challenges for affected children. Advanced gene therapies now offer promising options to preserve nerve function and improve outcomes for SMA patients.