Touching Lives - October 2012
60 years of saving and changing children’s lives
This year we’re celebrating 60 years of vital research. The charity was founded in 195 2 by Duncan Guthrie in his quest to find a cure for the deadly disease polio. Our early research contributed to the development and rapid adoption of the first oral polio vaccine which has kept children safe from this deadly virus in the UK.Today, Duncan Guthrie’s legacy lives on thanks to supporters like you. During our 60 year history Action Medical Research has played a significant role in many medical breakthroughs and spent more than £100 million on research that has helped save thousands of children’s lives and changed many more. Here are some examples of how your help is making a difference:
Helping people with severe disabilities to say ‘I can’
In 1961 Action awarded a grant to support the development of technology that links everyday appliances to a single personal electronic control for easy use by people with severe disabilities. Researchers observed that if patients were able to control the air in their mouths enough to blow a whistle to attract attention then the same process could feasibly control any number of electrical appliances. The first device was made within six months of the grant, giving patients control over bells, lights, radios, telephones and televisions. The Patient Operated Selector Mechanism (POSM) became known as Possum, which means ‘I can’ in Latin. Possum Limited was founded in the early 1960s and today, a variety of Possum technologies are in use, improving the lives of disabled people.
Matthew and Possum
Matthew attends The Dame Hannah Rogers Trust in Devon, which offers educational, residential and short break activities for children and young adults with complex physical disabilities, including visual, hearing or sensory impairments. The centre has an environmental controls room which is set up as a lounge with a TV, lights, radio, iPod and ceiling fan, all operated by different remote control devices and switches. Matthew uses the lounge as a place to relax. He likes to open the door and drive into the room in his powered wheelchair and use the Possum technology to turn off the lights, open the window and put on the ceiling fan. “Matthew is really developing skills in sequencing and likes being in control when he is in the room. It is very empowering for him,” said his therapist.
The link between genes and itchy skin
Itchy skin can be incredibly common and yet it’s one of the least understood symptoms in dermatology. One of the possible causes is primary localised cutaneous amyloidosis (PLCA), which can result in such an overwhelming desire to scratch that a patient’s skin suffers extensive damage. Action Medical Research funding in 2007 enabled researchers to make an exciting breakthrough – the first discovery of defects in a human gene that cause itching in an inherited form of PLCA. They are now investigating whether similar processes cause more common forms of itching, such as eczema. It is hoped these findings will help inform the development of new treatments to control itchiness. The project was supported by a generous award from The Henry Smith Charity.
Helping children with epilepsy
In our 60 year history we’ve invested over £3 million into epilepsy research, including into projects identifying genes that may cause the condition as well as those looking at possible improvements in surgery. Half a million people in the UK are estimated to have recurring seizures due to epilepsy, around 60,000 of whom are aged under 18. Not all can be cured with drug treatments. In 1992 Action funding enabled researchers at the Institute of Child Health, University College London, to find new ways to surgically treat children with epilepsy. They wanted to use a new form of scanning called single-photon emission computed tomography which enabled them to identify the affected parts of the brain. The results from the research have allowed Great Ormond Street Hospital (GOSH) to offer surgical treatment for epilepsy in many children and develop one of the largest programmes of this type in the world.
Sophie and epilepsy
Sophie was diagnosed with epilepsy aged 10 months. Medication controlled the seizures during her early years. But in August 2010, aged 10, she had a severe seizure and spent three weeks in hospital. Now aged 12, Sophie has to take seven tablets twice every day, but still has a seizure every month or so. She dreads having one at school and the medication affects her concentration. “She’s really kind and sweet and just wants to be normal,” says her grandmother Caroline. Sophie also loves spending time with her friends.“My family is very protective of me. I know it’s because they care but I want to be able to go out swimming or cycling with my friends,” she says. She has recently had a brain scan at GOSH. “There are a lot of big ‘ifs’about surgery. But if it’s successful it will be really good for my family to be less worried about me. And for me the freedom will be brilliant,” Sophie says, beaming.
Improving the lives of children with sickle cell disease
Sickle cell disease (SCD) is a serious genetic blood disorder that can cause poor blood circulation in the brain. It is the most common cause of stroke in children and frequently affects children of Afro-Caribbean origin. Funding awarded in 2000 enabled researchers to monitorthe growth and development of 50 children and infants with SCD. The researchers were able to identify children at risk of a delay to their development caused by SCD and that those children also showed abnormal levels of blood supply to the brain. The results can now be used as a guide to predict which children are most likely to develop learning difficulties and how best to help treat them.
A breakthrough in feeding premature babies
Funding by Action Medical Research in 2005 of ADEPT, a milk feeding trial for small babies, has led to a breakthrough discovery. It looks set to change the way vulnerable premature babies are fed. The digestive systems of small, premature babies are not fully developed and feeding with milk can put them at risk of developing bowel problems, including the serious condition necrotising enterocolitis. This has led to a tendency to delay the start of milk feeds and feed intravenously for the first few days, which also carries its own risks. There has been no consensus on how best to feed these babies. Results published this year from the trial found that babies born both premature and growth-restricted would generally benefit from starting milk feeds within the first 24–48 hours after birth. Doctors can now be more confident in starting to feed these high-risk babies earlier.The researchers believe the findings could help babies to leave specialist care units earlier, freeing up vital high dependency care cots for other sick babies to use.
The role of nutrition in liver disease
It’s crucial that children with severe liver disease get the right nutrients from their diet. The liver is vital to growth and development, storing sugar, breaking down proteins and signalling to the muscles to store sugar for energy. If this doesn’t happen because of disease the liver turns to muscle tissue to generate energy for the body. This, in turn, leads to malnutrition which affects growth and development and can jeopardise the success of a transplant – the main treatment for serious liver disease.In 1993, the charity awarded a Research Training Fellowship to Dr Sue Protheroe, who was investigating a special diet that might help avoid malnutrition. The findings formed the basis of what is now an accepted treatment for children with liver disease, resulting in more normal growth and development and a greater chance of survival should there be a need for a transplant.
Katie and nutrition
Born four weeks early, Katie Haywood was diagnosed with Alpha-1 Antitrypsin deficiency, an inherited condition where the body does not make enough of a protein that protects the lungs and liver from damage. Katie spent five of her first seven weeks of life in hospital and her parents met Dr Protheroe, who asked if Katie could participate in her research. Dr Protheroe’s work showed that a special milk feed containing key amino acids helped children with liver disease to grow and gain weight. While on the milk feed Katie was closely monitored over six weeks.She is now a happy and healthy 20-year-old university student. She says: “I feel honoured that I was part of Dr Protheroe’s groundbreaking research. I was born just at the right time. For it to have improved my quality of life so drastically is priceless!”