Touching Lives - March 2003

It is hard to imagine the frustration of suddenly being unable to form sounds and words, but it’s a problem faced by thousands of throat cancer patients every year.

As many as 50 per cent of throat cancer patients may need to have their voice box removed, which means that air can no longer pass from their lungs and into the throat and mouth to aid speech. Patients can also lose their vocal cords, used to produce speech sounds.

There is no agreement as to the underlying cause of this condition and treatment is inadequate. A team of researchers funded by Action Medical Research at St Thomas’ Hospital, London has been concentrating on the role of the joint at the front of the pelvis, which widens slightly during pregnancy and labour.

About 10,000 people worldwide are thought to suffer from severe storage diseases such as Tay-Sachs, Gaucher and Fabry. These glycosphingolipid storage diseases are a group of debilitating conditions affecting both children and adults.

In each case an accumulation of chemicals occurs in the body’s cells and results in cell dysfunction. In many cases the result is death in early infancy as a result of rapid neurodegeneration.

Action Medical Research gave a grant of £84,000 to Dr Catherine Williamson, Professor Richard Boyd and their team to find out more about the condition — and they are making remarkable strides.

It’s thought that one in 200 pregnancies may be affected by obstetric cholestasis (OC), a liver disease characterised by severe itching during pregnancy. For the mother the itching can be a real nuisance, but if undiagnosed it can be catastrophic for the unborn infant, leading to prematurity, foetal distress and even stillbirth.