G for Genetic and Gaucher’s

25 Apr


Genetic Goucher's J

G for Genetic and gaucher’s

Today’s alphabetical challenge was G. There are very few medical conditions starting with G, and Gaucher’s disease is one of them. This is a genetic storage disease in which metabolic products of cells cannot be expelled from cells due to a deficiency in one of the enzyme processes. This results in a massive build-up of unwanted product within the cell. Big cells mean big organs, and those organs which store the particular metabolite (in this instance a sphingolipid) are most affected. Big spleens, livers, and particularly deformed bones are characteristic. The earliest treatment consisted of extracting the deficient enzyme from human placentas and giving this as an injection for life. This has now been superseded by a complex process of recombining DNA in a bacterium which then produces this enzyme and bypasses the risks of using human material.

In the past, and even when I was training, these patients were considered incurable and allowed to die. Scientific breakthroughs, like enzyme substitution therapy, has allowed some people with this condition to live a reasonable life. At the same time some people thus afflicted have lived for many years with accompanying financial, emotional, and other hardships to themselves and families, without hope of recovery.

This image includes the Chest X-ray of a boy with Gaucher’s syndrome from the radiology museum of cases. It also includes a red flower, and a faded grey and pink banana leaf texture. These combine to give a star-burst which I see as symbolic of the hope for a breakthrough in gene therapy which can alleviate this condition.

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