Touching Lives - October 2013
Helping Emma to live without pain
From the moment Emma Thornton was born, she loved being active. As an agile baby and toddler she excelled in climbing, was well coordinated and as she got older loved running, swimming and trampolining. Tragically, at six years old she was diagnosed with Perthes’ disease – a painful illness affecting the hip joint that brought an end to her love of sports. Read here how she and her family have coped.
Today, Emma is a lively, gregarious and strong-willed 11-year-old. However, the last few years have been far from easy. In April 2008, when Emma was six, her elder sister Katie came running downstairs saying her sister was crying and couldn’t stand up. “I thought she had just pulled a muscle in her left leg while trampolining or playing. I helped her up and she just carried on,” recalls her mum Theresa. Four weeks later Emma was still favouring her right leg, so her parents took her to their GP who referred her to the hospital children’s clinic. X-rays showed that Emma’s left hip joint gap was bigger than on the right. “The consultant ran through a list of possible reasons. He mentioned Perthes’ disease but assured us that most likely it wasn’t,” says Theresa.
Perthes’ disease affects boys more often than girls. It is usually diagnosed in children after experiencing hip pain or a limp. Normally, just one leg is affected. The hip can become stiff and walking can become difficult and painful. Although most children eventually make a good recovery, some develop permanent deformities or arthritis in later life.
Unfortunately no diagnosis was made following Emma’s initial hospital visit, so Theresa, an ex-scientist, set about her own research looking for answers. Having read more about Perthes’ disease she asked that Emma’s X-rays be re-examined. A subsequent MRI scan confirmed Emma’s diagnosis in July 2008. As her mum had suspected, Emma has Perthes’. “It was not a shock as I was semi-prepared,” says Theresa, “but I felt very sad for Emma and the restrictions Perthes’ disease will place on her and the increasing pain she will have to go through. She could face the possibility of having to go through early hip replacement surgery in her 40s.” In the November following her diagnosis, Emma needed surgery to release a tendon in her groin and had to wear a hip brace for six weeks which was a struggle, particularly at school. As a six-year-old, Emma wasn’t able to understand what was happening and became frustrated and angry when told she could no longer run, trampoline or climb. “Early on it was really, really tough. Emma became very sad and disruptive at school,” says her mum.
Theresa remembers a particularly devastating time when Emma was seven. “We were told she had missed the boat for corrective surgery, which should have been undertaken within three months of her diagnosis. The head of her hip had grown too big for this surgery to be effective.”
A series of tests the following year revealed the extent of Emma’s hip problems. In January 2010 she had to have an operation to cut and re-angle her femur bone. Then, temporary plates had to be inserted to help correct the angle of her hip and further painful surgery was needed to remove the plates. Having shown such early promise as an athlete, Emma now concentrates more on music. She is learning the violin, the oboe and the piano, which is her favourite. Physical restrictions have been lifted, as much as pain allows. It is also only in the last six months that she has not needed paracetamol and sometimes ibuprofen on a daily basis for the pain.
Her mum says: “She’s such a lively spirit and is very brave. Her father and I are very proud of her. Her dad is very positive but I am more cautious about Emma’s future. She has got a lot more growing to do which may mean more problems and even more pain.”
Action Medical Research is funding Professor Michael Fagan of the University of Hull to develop screening guidelines to help identify children at risk of getting Perthes’ disease. It’s not currently possible to predict which children will develop the illness, so by the time a child is diagnosed their thigh bone may already be damaged. Professor Fagan is also investigating possible preventative treatments.
“The aim of treatment is to promote the natural healing process and prevent any permanent deformity or disability,” says research colleague Professor Nicholas Clarke. “Sometimes all that’s necessary is to monitor a child’s progress. Interventions include physiotherapy, bed rest, crutches, a plaster cast or special leg brace and surgery. Treatment varies depending on the severity of a child’s condition, but even bed rest can be difficult for a child who is otherwise well.”
Emma’s mum is very supportive of this work. She says: “I hope the new research funded by Action will make sure that other children like Emma don’t end up in the same boat. If something could’ve been done for her earlier, it would’ve saved a lot of pain, disappointment and heartache.”
You can also read Emma's own letter on living with Perthes on our donation page.