Medics diagnose rare condition by smelling baby girl’s earwax
Medics diagnosed girl by smelling her earwax.
Medics at Evelina London Children’s hospital saved a baby girl’s life after diagnosing her with a rare condition by smelling her earwax.
Harini Rasalingam, now two years old, was transferred to Evelina London in January 2017 from her local hospital at seven days old after becoming critically ill with a then unknown condition.
A specialist doctor at Evelina London, Dr Helen Mundy, was quickly able to diagnose Harini with maple syrup urine disease by smelling her ear
wax, and recognising the sweet smell as a sign of the condition.
An analysis of the earwax and a blood test, which was taken earlier,
confirmed the diagnosis.
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.
Very high levels of these substances in the body without treatment, can cause serious complications and even death.
The condition is given the name Maple Syrup because one of the main symptoms is sweet smelling urine or ear wax.
Harini’s mother, Preminy, 30, from March in Cambridgeshire, 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.
Harini continues to receive care at the hospital.
Evelina London is celebrating its 150th anniversary this year.
The hospital was founded in 1869 as Evelina Hospital for Sick Children
by Baron Ferdinand de Rothschild, whose wife, Evelina, died
along with their baby in childbirth.
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