Touching Lives - December 2004

Have you heard of Blissymbolics? Chances are that you haven’t, but you’ve probably heard of Esperanto. Esperanto was developed in the late 19th Century in the belief that a universal language, commonly spoken and understood by all, would break down barriers between peoples and lead to mutual understanding and cooperation in a war-torn and divided world.

Pharmaceutical companies are not required to test the drugs they develop on children or babies. As a consequence, some 40 per cent of drugs given to children are not licensed for that purpose, and 65 percent of drugs administered to newborn babies are unlicensed or licensed only for adults.

As for many of us, the hardest thing about work for IT consultant and advocacy worker Matt Rangel is getting out of bed in the morning. But for Matt, the challenge is even greater. Matt has Arthrogryposis Multiplex Congenita, which is a term used to describe a range of conditions involving multiple joint contractures, or limitation in the range of movement of a joint. It means that Matt’s body didn’t grow normally, and some of her joints are fixed in a certain position.

Britain’s ageing population means that the debilitating condition osteoporosis is becoming more common, in both men and women. Thousands of people each year suffer fractures as their bone density diminishes due to hormonal changes — and spinal fractures are among the most problematic.

New techniques to inject ‘cement’ into damaged vertebrae have been pioneered in France and used in the UK for several years — but Action Medical Research has awarded £90,000 to the first major study into their impact on the actual function of the spine.

Up to ten per cent of pregnancies end with delivery before ‘full term’, and babies born prematurely risk suffering from long term physical and learning disability. Furthermore, of those babies that die shortly after birth, up to 65 per cent are premature. In many cases, the cause of premature labour remains a mystery, largely because the mechanisms controlling labour are poorly understood. As a consequence, present-day treatments for premature labour remain ineffective.

Premature birth rarely hits the headlines, although the recent tragic case of baby Charlotte Wyatt received extensive news coverage. Charlotte’s mother went into labour in just the 26th week of pregnancy. Consequently, Charlotte has never left the Portsmouth hospital where she was born. She suffers serious health problems as a result of being born very pre-term, giving her parents — and the doctors who care for her — agonising decisions over how much to intervene with life-saving treatment to keep her alive.

Preterm babies suffer with many health complications as a result of their immaturity, often from bleeding or lack of oxygen in the brain. But also around a quarter of premature babies have problems with their lungs and develop chronic lung disease.

This is because they have not sufficiently grown to be able to breathe by themselves and require prolonged oxygen in hospital and at home to survive. This chronic lung disease is associated with a large number of deaths and prolonged health problems throughout childhood and even into adult life.

Paediatric neurologist Dr Russell Dale was working at Great Ormond Street Hospital when he was struck by the terrifying and dramatic nature of the symptoms he was seeing in some of his patients. Previously healthy children would suddenly develop movement and psychiatric disorders, to the extent that their parents described them as having ‘changed personality overnight’.

An Action Medical Research team, led by Dr Peter Turnpenny, has identified two new disease genes during their studies into spondylocostal dysostosis — an inherited condition that causes disorganised development of the vertebral column, changes in the shape of the ribcage and a shortened trunk. The two-year £98,000 project helped to characterise the condition — fully defining the symptoms caused by one of the faulty genes — and identified a second faulty gene.