How a baby girl's life was saved by sniffing her ear wax
Posted on Wednesday 27th March 2019
Harini Rasalingam at an event where she met The Duke and Duchess of Cambridge
A specialist doctor at Evelina London saved a baby girl’s life by smelling her earwax to diagnose a rare condition.
Harini Rasalingam, now a happy two year old, became critically ill when she was just seven days old.
Harini’s mother Preminy, 30, from March in Cambridgeshire, said: “I had a normal birth with Harini 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.”
Doctors at Harini's local hospital called Evelina London for advice, and specialist intensive care ambulance service, the South Thames Retrieval Service, went to collect her.
Once at Evelina London, inherited metabolic medicine consultant, Dr Helen Mundy, was 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.
Preminy, who also has a three-year-old son and seven-year-old daughter, continued: “Once Harini was transferred to Evelina London she was diagnosed very quickly. 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.”
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.
Dr Helen Mundy, 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.
“Normally maple syrup disease is picked up in babies through screening, but Harini presented with the condition much earlier than normal. Before she was diagnosed, Harini’s condition became extremely critical, but thankfully we knew that sweet smelling earwax is a key sign of the condition, and our wonderful specialist pathologist came in on his day off to analysis the sample, which meant Harini was able to get the life-saving treatment she needed.
“Fortunately we have specialist teams at Evelina London who are able to diagnose and treat complex rare conditions like this.”
Following her diagnosis Harini spent three weeks in our paediatric intensive care unit (PICU).
Preminy said: “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.
“Every week we send Harini’s blood samples to Evelina London to check that the levels of amino acids in her body are within the normal range. The dieticians always get back to me very quickly if there are any problems.
“It was quite overwhelming at first knowing what to do, but the doctors, nurses, and dieticians took time to explain everything to me and are always on hand to answer my my questions.
“I’m so thankful to the teams at Evelina London who diagnosed and cared for Harini. If she wasn’t diagnosed in time she wouldn’t be here now. Everyone who has been involved in her care has been really supportive. I really couldn’t thank them enough.”
Harini and her family 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.”
Our metabolic diseases department is one of the main centres in the UK offering treatment and care for children and young people with all types of metabolic diseases. We see more than 300 new patients each year.
Our Evelina 150 Stories
Harini's journey is part of a series of Evelina 150 Stories that we are sharing in celebration of our special 150th anniversary year. Throughout 2019, we are highlighting some of our amazing patients and also encouraging them to blog about their experiences.
150 years ago, Evelina London was born out of love, when Baron Ferdinand de Rothschild founded the hospital in memory of his wife, Evelina. Since 1869, we've been saving lives, improving health and inspiring better futures.
Find out more about how we are marking our special birthday: evelinalondon.nhs.uk/150.