Page last updated at 11:40 GMT, Thursday, 21 January 2010

Apology over brain disease error

CT (Cat) scan of a healthy brain
Huntington's is a hereditary, progressive neurological disorder

A health board has apologised to a man who was wrongly diagnosed as a likely sufferer of a hereditary brain condition.

The man, known as Mr C, was told when in his early 30s that he was likely to have incurable Huntington's disease.

Doctors told Mr C there was a good chance that the condition would be passed on to his daughters.

But almost 20 years later, a subsequent test showed that Mr C did not in fact have Huntington's.

The case, from the NHS Lothian area, was investigated by the Scottish Public Services Ombudsman after it received a complaint from Mr C.

The ombudsman found that the understanding that Mr C would develop Huntingdon's disease (HD) and that his two daughters had a 50% chance of being affected by the condition caused a great deal of anxiety for the family, and led them to make "certain life choices".

This was an exceptional case and we have implemented the recommendations of the report to prevent a repeat of a similar incident
Melanie Hornett
NHS Lothian

His daughters chose not to undergo testing for HD, as they were "terrified" of finding out the results.

However, awareness of the potential onset of HD led to Mr C's wife and one of their daughters terminating pregnancies.

One daughter was unable to complete her university degree. The family also experienced problems obtaining insurance and were unable to move to a better home.

The procedure in which Mr C tested positive for HD in 1989 carried a 4% probability of error.

A new, more accurate test was introduced in 1993 but Mr C was not re-tested with this until 2007.

The result was negative, showing that Mr C did not in fact have the disease at all and that he must have fallen within the 4% of people for whom the original test provided an inaccurate result.

Mr C and his wife complained that, had re-testing been routinely provided when more accurate tests became available, they could have avoided considerable stress and made different decisions made about their daughters' futures.

Genetic tests

In his report into the case, the ombudsman said: "Although I found that the general position of the Board on re-testing was reasonable, I found that in Mr C's particular case it was far too long before he was offered a re-test, especially as he was not displaying symptoms of HD.

"I therefore upheld the complaint that the Board did not act reasonably in failing to re-test Mr C for HD after the introduction of more accurate tests.

"I recommended that the Board remind clinicians of the importance of open discussions of new genetic tests with affected patients in order to enable them to make informed choices and of the importance of recording such discussions and the information provided to patients."

NHS Lothian nursing director Melanie Hornett said the health board was "deeply sorry" for the distress caused to Mr C and his family.

She added: "This was an exceptional case and we have implemented the recommendations of the report to prevent a repeat of a similar incident."

Huntingdon's is a hereditary neurological disorder of the central nervous system that causes progressive degeneration of cells in the brain, slowly impairing a person's ability to walk, think, talk and reason.

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