Touching Lives - September 2003

Such desperate measures were needed to give Callum, who has Hurler Syndrome, the chance to live a life that otherwise would have been denied him.

Callum is now seven. He attends school, goes to Tae Kwondo, plays football — and is something of a celebrity in his home town of Blackpool.

With his mum Carla, dad Donnie, brother Donnie junior and sister Chantelle, he has recently been on holiday to Majorca, where a stranger approached his mum.

“I know you,” she said. “You’re from Blackpool — I recognise Callum.”

1 in 400 babies are born every year in the UK with some form of brain injury. Evidence suggests that infection, as well as lack of oxygen, may play a significant role in the brain damage that can occur during childbirth.

“There seems to be a relationship between infection, lack of oxygen, and a key molecule called ‘tumour necrosis factor’ in producing brain damage, but we’re really not sure yet what the relationship is,” says new Action Medical Researcher Giles Kendall.

Do you take your teeth for granted? Most of us do, and beyond the occasional trip to the dentist hardly give them a second thought. And what about your hair? It might have unruly days, but be honest — does it ever really give you cause for concern?

The B vitamin could help lower the risk of infants being born with cleft lip and palate, as well as reduce the chances of them developing spina bifida.

Action Medical Researcher Professor Robin Winter and colleagues at the Institute of Child Health, London, identified changes in a particular gene which may increase the risk of children suffering a cleft lip and palate. The gene, known as MTHFR, plays a vital role in regulating the body’s supply of folic acid.

Read more in the press release.

Dr Mohammed Akmal is a surgeon who is also involved in developing tissue engineering techniques. With Action Medical Research funding, he and his team have successfully developed a technique to grow knee cartilage.

Cartilage is a tough, fibrous connective tissue with excellent shock absorbing qualities. It is also found in other joints such as the ankle, hip and shoulders and provides a smooth protective surface for ease of movement.

Dr Peter Moore is Senior Lecturer and Consultant Neurologist at the Walton Centre for Neurology and Neurosurgery in Liverpool and has been using botulinum toxin to help children with cerebral palsy.

Yes, that’s botulinum toxin — the same stuff that people inject into their faces to reduce wrinkles! Although it is best known as a cosmetic treatment, botulinum toxin is used for all sorts of medical conditions. It is effective in relieving some kinds of pain, as well as easing different sorts of muscle spasms, and stopping excess sweating and salivation!

It is estimated that one quarter of people who suffer a stroke have aphasia — communication problems affecting speech, understanding, reading and writing. Around 15,000 people a year in the UK suffer aphasia after stroke and, while some people recover language use spontaneously, others do not.

Using specialised brain imaging techniques, Dr Jane Warren aims to identify the changes in organisation of speech processing after stroke that are associated with successful recovery of language comprehension.

This sensitivity to gluten can cause inflammation and damage to the small intestine and symptoms can include abdominal pain, weight loss and in extreme cases, malnutrition.

The symptoms can be controlled by following a strict gluten-free diet — but Action Medical Research and Sainsbury’s teamed up to fund a three year study into coeliac disease that could help its diagnosis and treatment.

This is exciting news, not least because pre-eclampsia is such a common complication of pregnancy, affecting 1 in 10 pregnant women at least mildly. For 1 in every 50 pregnant women it causes serious complications.

The devastating condition causes a pregnant woman’s blood pressure to rise to dangerously high levels and can prove fatal to both mother and baby. The cause is unknown, there is no effective treatment, and in severe cases doctors have no choice but to deliver the baby early.

Angela Deakin’s route to medical research began with an engineering degree sponsored by Rolls Royce. “I then went on to work for them as a mechanical engineer for seven years,” she told Touching Lives. “I spent a year working in the US, but the move back from the States presented me with a suitable opportunity to reassess my career.

Such bowel problems dramatically impact on the quality of life of both patients and carers and are a major factor in referral for long-term care in nursing homes.

Thanks to funding from Action Medical Research, the first rigorous trial has taken place to compare a structured programme of assessing and treating bowel problems in stroke patients with routine care. The £67,000 study was based at St Thomas’ Hospital in London in conjunction with King’s College Hospital, London and Orpington Hospital in Kent, and was headed by Dr Danielle Harari.

SCD is called the unpredictable disease because you never know when the sufferer will have what is termed a ‘sickle cell crisis’. Blood cells are not round but crescent shaped in people who have SCD and this causes problems with circulation leading to blocked blood vessels and damaged organs.

But, more importantly, ultrasound is a crucial medical tool for doctors to check that a child is healthy, and that allows any problems to be caught early on.

In fact, ultrasound also has many other less well known benefits, such as helping tissue repair where muscles and ligaments are torn or strained, as well as many other therapeutic uses. So not only can it help doctors to detect problems, it can actually help solve them too. Projects funded by Action Medical Research have been at the centre of the development of ultrasound into the lifesaving tool it is today.