Her mother said: ‘It was a big shock to begin with. The nurses called me on the phone and then a few minutes later they were at the door. They called an ambulance straight away to take Habul into hospital. At this point she wasn't crying, she was lethargic and already in a coma-like state.’Her mother only realised there was something wrong when her daughter did not settle like normal babies. MSUD is so rare, and symptoms are initially so broad, that any number of ailments could have been causing the symptoms.
‘She was trying to cry but she wasn't able to. We didn't know what to do,’ said her mother. However, the child was saved because she took part in the newborn screening just six days after she was born.Two days later, when Habul was eight-days-old, the results came back showing that she had MSUD, a genetic disorder which stops the body breaking down parts of proteins called amino acids. The test identified high levels of the amino acid leucine in Habul’s blood, a condition which can lead to coma, brain damage and death if not treated.
Her mother said: 'She was a very lucky girl. She had to be taken straight to the Intensive Care Unit.’ Habul was put on dialysis to cleanse her blood and then began special feeds given via a feeding pump. After just 48 hours she came out of the coma-like state and could cry normally.
Reference :
Dailymail, 2013.Saved with just hours to spare, the baby who was diagnosed with a deadly disease after being picked to have a new blood test [Online]
Dailymail, 2013.Saved with just hours to spare, the baby who was diagnosed with a deadly disease after being picked to have a new blood test [Online]
Available at: <http://www.dailymail.co.uk/health/article-2285982/Maple-Syrup-Urine-Disease-Saved-just-hours-spare-baby-diagnosed-deadly-disease-picked-new-blood-test.html>
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