What is a Genetic/Metabolic Disorder?
A genetic/metabolic disorder is one which developed at the time of conception. it cannot be 'caught' and primarily affects the person who has the illness. Our bodies contain billions of cells, storing threads of DNA arranged in chromosomes at the centre of each cell. The chromosomes are composed in genes which contain the blueprint for how we develop. All human beings have 46 chromosomes divided into pairs, 23 pairs from each parent to make the new single cell. Unfortunately this process can sometimes go wrong and a small piece of genetic information stored on a chromosome is altered or completely missed out. |
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The mutation is not always significant, with no harmful effect on the individual, however a genetic disease can occur here. The affected family are sometimes unaware of the disorder until the illness manifests itself. The 'knock-on' effects however, can be devastating. Some diseases have had extensive research and thankfully now have effective treatment regimes. However, many more genetic/metabolic disorders have no treatment and lead to certain early death. Research into genetic diseases is at the forefront of medical research these days, but is extremely difficult to execute and unbelievably expensive, but so vital to the future of medical science. Government funding does not have the means to supply the money for research and equipment however controversial we believe that to be! So hence charities, such as the GEM Appeal need to exist to enable scientists and doctors to do their skilled work and create treatments to end these terrible diseases that devastate the lives of all they touch. Please help the GEM Appeal to eradicate these diseases so no more children die the way Simon and Mike did. |
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Over 2,000 children currently attend the Willink Unit and require very specialised care and attention from the staff working there. The future of treatment of Genetic and Metabolic disorders depends on the research being carried out now and is vital for the future treatment and cure of these life-threatening disorders, which so cruelly devastate so many lives. Please help us to raise the raise the funds necessary to support the essential work currently being carried out in this area of medicine at the Willink Unit. |


