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BMJ reports Paul McNeil's case involving genetic disease and doctor's duty of care

Paul McNeil
Leading medical journal the BMJ has reported Paul McNeil's case on behalf of a man whose rare genetic condition was undiagnosed for 36 years. The man was recently awarded £2.5m in a high court settlement.

The man, who is protected by an anonymity order, only discovered he had methylmalonic acidemia type CblA after his sister battled as an adult for her own diagnosis and paid for private tests. Only once she was diagnosed with a milder form of the disease was her brother also diagnosed.

Paul and his team argued that if the man's diagnosis had been made earlier, he would not have deteriorated beyond the stage when treatment is possible, which has left him unable to live independently. The inherited disorder means the body is unable to process certain proteins and lipids properly can be diagnosed with a blood test.

 At an approval hearing at the High Court, Mr David Pittaway QC, Deputy High Court Judge, said the case was “highly unusual.”

The family took legal action against the Secretary of State for Health and Social Care because the South West Strategic Health Authority which covered Poole Hospital, where the man was initially seen as a child in the 1980s, no longer exists. The mother had previously been wrongly told that her son’s problems were caused or contributed to by her own failings or those of the childminder she employed.

Each sibling had a 25% chance of having the condition, a 50% chance of being an asymptomatic carrier of CblA and a 25% chance of being unaffected. The brother received £2.5m for personal injury as a result of negligence, while his sister, who was diagnosed aged 32 after suffering neurological symptoms, was awarded £250 000.

The siblings' mother told the BMJ she was “extremely shocked" when she heard the results of the tests. She said: “I just can’t believe it. How could he go until the age of 36 without actually being tested for this—it just seemed amazing.”

Paul argued on behalf of the family that had the man been diagnosed at birth, doctors had a duty of care to inform his mother that any other of her children may be also be affected. His sister was not tested at birth or as a child and was diagnosed in her early 30s.

Duty of care

This successful case follows an earlier test case last year, also run by Fieldfisher, which introduced a new, limited, legal duty of care of doctors towards at-risk third parties. Jonathan Zimmern represented a woman known as ABC who sued a hospital trust for not disclosing her father’s diagnosis of Huntington’s disease, which is genetic, when she was pregnant.

At conclusion, the judge gave legal force to the existing duty of care doctors should follow as part of their professional guidance balancing the rights of the patient to confidentiality and the rights of at-risk third parties.

Paul told the BMJ that the failure in his case to advise the mother that any other children she might have should be investigated and tested for the condition was negligent, as was not testing the sister at birth. “The failure to identify a genetic condition in the first claimant was also a failure with respect to the duty owed to his siblings including the second claimant who with proper care would also have been diagnosed at birth.”

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