Some people don’t like the concept of preventive neurology. Why? They think it raises false expectations about what can realistically be achieved in a disease area without precedent. I strongly disagree.
When I was a medical student I met Stephanie a very brave and inspiring patient on the medical wards at the Johannesburg, General Hospital. Stephanie had cystic fibrosis and would be admitted every 4–6 weeks with recurrent chest infections. All the house officers, medical and nursing staff knew her and we went out of our way to make her frequent stays in hospital pleasant and enjoyable. On our ward rounds, she used to joke with Professor Bothwell my mentor, and discuss things she was planning to do. You see Stephanie had a bucket list. Although she was aware she had a disease that was disabling and would shorten her life she wanted to live a full and rewarding life. She created a fantasy world about her future and we played along with her. One of her wishes was to climb the Drakensberg mountains in South Africa.
Three years later when I was a house officer Stephanie was admitted for the last time on our medical intake. On the day of her last admission, Stephanie was exhausted and was frightened. The light in her eyes wasn’t there anymore; we both instinctively knew that it was close to the end of the road. Her heart was failing and it simply wasn’t strong enough to pump blood through her damaged lungs. Stephanie was dying and she was only twenty-seven.
Stephanie passed away on that admission with her family gathered around her. It was one of the saddest days of my house job. Her funeral was massive; almost everyone from the medical wards at the Johannesburg Hospital who could get time off work attended to her funeral. You see Stephanie had touched all of our hearts with her joie de vivre, smile and sense of humour. Stephanie truly believed that someday people like her with cystic fibrosis would be prevented from having to die so early.
We kept a picture of Stephanie pinned to our notice board in our office for months after her death; maybe as a reminder to ourselves never to give up and to keep believing that one day we will be able to prevent other people with cystic fibrosis from dying young. Move forwards 30 years and we have very effective treatments for cystic fibrosis that can prevent, yes prevent the end-organ damage that caused Stephanie to die. People with cystic fibrosis are now running marathons and climbing mountains.
Stephanie believed in the promise of preventive medicine and we happily played along with her and her other fantasies only to now realise that she was right all along. So why wouldn’t we give people with neurological conditions the same kind of hope that Stephanie had?
At the America Academy of Neurology meeting 3 years ago I shed a tear when I saw the video of a young floppy child with spinal muscular atrophy, who couldn’t support the weight of his head. A video taken of him 2 years later showed him sitting-up smiling and achieving many of his developmental motor milestones as a result of a new form of genetic treatment called small interfering RNA therapy. The latest trials show that if this treatment is started before these children become symptomatic it prevents them from getting spinal muscular atrophy. Is this a miracle or some divine intervention? No, it is not. It is the relentless unpacking of biology and pharmacology innovation that is making preventing neurological disease a reality.
The people who don’t agree with the principles of preventive neurology and the hope it generates are simply modern-day killjoys. We are living through an era of technological progress that is not too dissimilar to the industrial revolution. Let’s celebrate it for what it is a ‘biological revolution’ that is making preventive neurology a reality.