Motor Neurone Disease Diagnosis: One Patient’s Story of Seeking a Second Opinion

The New England Journal of Medicine has shared an essay examining the experience of a patient who receives a diagnosis of amyotrophic lateral sclerosis (ALS), the progressive neurological condition also known as motor neurone disease, and chooses to seek a second opinion rather than accept the finding outright.

The piece, written by Brendan M. Reilly, MD, is published as a Perspective essay in the journal. According to the post from the journal’s official account, the patient is described as shocked by the diagnosis — but also sceptical enough to push back and look for another view.

That instinct is one many patients face. A diagnosis of ALS carries enormous weight. There is currently no cure, and the condition causes the nerve cells controlling movement to break down over time, leading to progressive muscle weakness.

Second opinions in complex or serious diagnoses are widely supported by NHS guidance. Patients in England have the right to ask their GP for a referral to another specialist if they wish to have a diagnosis reviewed.

Anyone concerned about neurological symptoms — including persistent muscle weakness, difficulty speaking or swallowing, or problems with coordination — should speak to their GP in the first instance. For urgent concerns, NHS 111 is available around the clock by phone or online.

Key information

• Second opinions: Ask your GP for a referral to another specialist — this is a recognised patient right within the NHS
• MND Association helpline: 0808 802 6262, offering support for patients and families affected by motor neurone disease
• NHS 111: Call 111 or go online for non-emergency health advice at any time
• In an emergency: Call 999