A critically ill baby from March had her life saved by a doctor who sniffed her earwax.
Harini Rasalingam, now two-years-old, was rushed to hospital in January 2017 when she dramatically began to lose weight at seven days old.
She was transfered to Evelina London Children’s Hospital, where medics were able to diagnose her with maple syrup urine disease by smelling her ear wax and recognising the sweet smell as a sign of the rare condition.
Harini’s mother Preminy, 30, said: “Harini had a normal birth but during her six-day-old check up with the community midwife, we discovered that she had lost a lot of weight so we were told to take her to our local hospital straight away.
“Once there Harini’s condition rapidly deteriorated.
“The doctors and nurses were very concerned but at that stage no one knew what was wrong.
“She looked like a little chicken, full of wires and tubes. I cried when I saw her. It was an extremely difficult time for us.
Following her diagnosis Harini spent three weeks in the Evelina London paediatric intensive care unit where she was given life-saving treatment.
Preminy, who also has a three-year-old son and seven-year-old daughter, said: “I’d never heard of the condition before but I was so relieved to know that she would finally get the treatment she needed and her life would be saved.
“Harini is now doing really well and is a very active toddler. We have to manage her condition very carefully by restricting her protein intake and monitoring the levels of amino acids in her blood.”
Harini and her family also met the Duke and Duchess of Cambridge last year at a special event at the children’s hospital to announce Her Royal Highness as Patron of Evelina London.
During the event The Duke spoke to Preminy about the care Harini has received at the hospital.
Preminy said: “The Duke was really lovely. He was very interested in Harini and spent time talking to my other children. My son showed him a dinosaur and he said his son George loves dinosaurs.”
Dr Helen Mundy, consultant in paediatric inherited metabolic medicine, at Evelina London said: “We are so pleased to hear that Harini has made a full recovery and is doing really well. Maple syrup urine disease is a very serious condition so it’s important that it’s diagnosed in time as if left untreated it can be fatal.”
Maple syrup urine disease is a rare inherited lifelong condition that prevents the body from being able to process certain types of amino acids, the building blocks of protein.
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