Delay confirming diagnosis meant that family will never know if a young woman might have lived longer or had better quality of life

What happened

Miss E was diagnosed with the condition overseas in 2000. She was prescribed medication to help control her symptoms. Miss D moved to England in 2004 with Miss E and took the diagnostic report with her. The first Trust, Barts Health NHS Trust (formerly Barts and The London NHS Trust) considered that the diagnosis was wrong, even though it had not confirmed a different diagnosis or carried out any investigations.

In 2005 Miss E was referred to the second Trust, Barking, Havering and Redbridge University Hospitals NHS Trust, which also felt that the initial diagnosis was incorrect. It took a 'wait and see' approach to Miss E's care.

During this period, doctors stopped the medication previously prescribed to control Miss E's symptoms. Miss E's condition started to deteriorate and, despite her family's concerns about her deterioration and the change of medication, clinicians did not carry out further detailed investigations and tests until Miss E's condition had deteriorated significantly.

The original diagnosis was reconfirmed in 2008 after the second Trust contacted the overseas consultant who had made the initial diagnosis, and carried out further tests. Miss E was prescribed the medication she had been prescribed abroad but her condition continued to worsen and sadly she died in 2012.

What we found

The decision by the first Trust to change Miss E's diagnosis without confirming another diagnosis and neither exploring the deterioration reported by her family nor telling the second Trust about the family's concerns, was a failing in care.

The second Trust delayed carrying out proactive enquiries and further investigations until Miss E's condition had significantly deteriorated. These were failings in care.

Because of the rarity of the condition and its terminal nature, we could not say that the delay confirming the diagnosis and prescribing the medication hastened Miss E's deterioration and death. We concluded that the delay confirming the diagnosis meant that Miss E did not have the opportunity to live as healthy a life as was possible in the circumstances. This was a source of anxiety and distress to Miss D.

Miss D also experienced the further injustice of having her hopes raised that the initial diagnosis was wrong only to have to have them dashed, and never being able to know if the outcome would have been different if the medication had not been stopped or if it had been restarted sooner.

Putting it right

The first Trust apologised to Miss D and paid her £750 compensation. It agreed to make sure that it learned lessons from the failings and drew up an action plan that detailed what it had done or planned to do to prevent these failings happening again.

The second Trust apologised to Miss D and paid her £1,500 compensation. It also agreed to draw up an action plan.