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Man whose genetic condition went undiagnosed for 36 years is awarded £2.5m

BMJ 2022; 376 doi: https://doi.org/10.1136/bmj.o238 (Published 27 January 2022) Cite this as: BMJ 2022;376:o238
  1. Jacqui Thornton
  1. London, UK

A man with a rare, progressive, genetic condition who was only diagnosed aged 36 once his sister was found to have a milder form of the disease has been awarded £2.5m in a High Court settlement.

The brother, who cannot be identified, was finally diagnosed with the disorder methylmalonic acidemia type CblA after his sister fought as an adult for a diagnosis herself and then paid for private tests which showed he had the same condition.

If spotted early enough, the metabolic condition can be treated with a lifetime regime of intramuscular vitamin B12 injections, which can avoid the development of clinical symptoms. Lawyers argued that if his diagnosis had been made earlier, he would not have deteriorated beyond the stage when treatment is possible, leaving him unable to live independently.

The inherited disorder, where the body is unable to process certain proteins and lipids properly, can be diagnosed by a blood test.

An approval hearing at the High Court in December …

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