Monday, 28 September 2020

The Long and Short of It

There seems to be a debate taking off about a new treatment for achondroplasia. Achondroplasia is one of the inherited conditions of 'dwarfism', that has a particular effect on bone growth. It, not only restricts stature, but causes the legs to be bowed and the arms shortened. So, it has a number of features, that can make life difficult for individuals with the condition. There have now been successful treatments of children with achondroplasia with a new drug, vosoritide. In controlled investigations, it produced a more than 50% increase in the rate of growth and corrected many of the skeletal 'defects' (https://www.theguardian.com/science/2020/sep/28/there-is-a-fear-that-this-will-eradicate-dwarfism-the-controversy-over-a-new-growth-drug">). It's early days, so things like when treatment should be optimally started, how long it should go on for and whether there are any averse consequences in adulthood, need to be evaluated. So far, so good. Another 'cure' of an inherited disorder (in the same way that one might treat Cretinism)? There has, however, been a pushback from groups of 'little' people (especially in the USA), who see the drug as potentially making them 'extinct'. They claim that, because achondroplastic children are often produced by parents of normal stature, this pressurises the child to conform by accepting the treatment. This is a difficulty, as treatment must commence before the child's bones mature. I personally think that, with appropriate medical help, parents should be able to guide their offspring appropriately. Having a treatmant for the condition, should not be construed, in my view, as an attack on people with a particular physical characteristic.

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