Fictional short story by Nikolaus Oberprieler

It was one of those great days where it was the most exciting thing to be a research scientist. John could sense this nervous feeling in his stomach, a slight tickling sensation. He was close now, really close, and if everything was to go well, then he would have an even better day tomorrow. He could already see himself, sitting in his supervisor’s office with all the other PhD-students and postdocs around him when he would present his data – data that would change everything.

‘But not so fast’, he thought. It was only 9.30am and there would be about 17 cups of strong black coffee between him and what he wanted to achieve that day.
He knew that this was the day he would get the last deciding piece of the puzzle, that last brick that would finish the castle. So far his four and a half years as a PhD student would not seem that exciting, or successful for that matter. He only published one paper with a lousy impact factor and had not been to a single conference. And if this wasn’t demoralizing enough, his fellow PhD-students made damn well sure he wouldn’t forget.
‘Working late again, John? What are you doing all this time? Surly not writing papers!’

But not that day! This was his time to shine!

Most of the morning he waited for the computer to spit out the remaining parts of his mass spectrometry data. He was comparing DNA sequence data, DNA micro array data, and quantitative proteomic mass spectrometry data from nerve cells from patients with severe mid-life neurodegenerative disease. These were patients who started to suffer from this soul-destroying disease as soon as they reached their early 50’s. The condition was first recognized about 10 years earlier and was believed to be caused by dietary factors although nobody was able to identify what these factors were. The disease was also known as dual-neurodegenerative disease, as it caused both ataxia and dementia, meaning it affected both movement control and memory. The prognosis for patients diagnosed was always damning, with no treatment or cure available, individuals would require full time care within months and would most likely die before two years after diagnosis. Scientist weren’t even close to a cure and the only thing doctors could offer were sedatives to keep sufferers stable and controlled while they spent the remaining months of their life chained to a hospital bed.
He always thought it was depressing to work with this project, although he never met the patients, but to think that this disease would break the hearts of so many families made him feel sick in the stomach.

The last piece of data was finally ready and he was all prepared for his final data analysis. ‘Coffee – check! Greasy crisps – check! Winegums – check! More coffee, more crisps, more winegum – check, check, check!’
His desk was littered with pens, notes, every stationary product one could possibly buy, and old coffee mugs he didn’t dare to look into anymore. Luckily his desk was placed in the corner of the room, so the walls on two sides kept the ever-growing stacks of paper upright. Sometimes John wondered what the walls had looked like, it had been that long he hadn’t seen them. Sitting down made him feel slightly claustrophobic, but it also felt comforting to him. This was his world. Apart from working in the lab with all these incredible machines, this was his favorite place to be.

He started his analysis at around 2pm and he knew that this would be another late night for him. One after the other, people slowly disappeared around him.
‘Have a good evening John, better have some stuff to show tomorrow morning at the meeting!’
‘Yeah, yeah, we’ll see tomorrow…tomorrow you’ll see’, he thought, grinning to himself the more data he was able to decipher.
At around 10pm the security guard made his final rounds. Checking all the doors and making sure all the lights were turned off. John hardly looked away from his computer screen when the guard opened his door. If he had stopped thinking about his data for only two seconds, he probably could have guessed which guard was on duty that night. It was always the same lonely souls meeting at around 10pm – the same guards and the same people still keeping the lights on, strange little companionships. Nobody knew the other, but being alone in a huge, empty, dark building in the middle of the night binds people together.

At 2am he was finished. The coffee was gone, the snacks were eaten, and he had finally reached the summit of the highest mountain a scientist could climb. An incredible feeling! He knew, at this moment, nobody…nobody in the world knew what he knew. He was the one who had discovered this new information, new knowledge that nobody knew before. He was the only one! Right now, in this moment, he was special, and no abuse from colleagues, the boss, or anybody else could ever take that moment away from him. It was unbelievable and he wanted to scream, just scream! But he didn’t – what if someone could hear him. Was there a chance anybody might still be around at this early hour? – He felt lonely. There was nobody there he could share this moment with, no witnesses, no comrades, no friends. Even the guard was gone…just him.

At round 3am he finally laid down in bed. He didn’t feel tired – not anymore. Too much coffee combined with all the excitement of his findings perhaps. How was he ever going to fall asleep, and sleep he must, because he knew that he had the most important 9am meeting he would ever have the next morning.

He had done it! He had almost single-handedly identified the 5 critical genetic markers and their functionally altered protein products which, if present in a person, would give a 98% chance of developing severe mid-life neurodegenerative disease as soon as that person reached his or her 50’s. And even better, now scientists could screen the DNA of potentially every human being, no matter how old, to see if they will develop this horrifying disease when they grow older. ‘What-the-heck’, he thought, ‘one could even screen unborn babies.’

That was the moment it hit him like a demolition ball hits a building: THERE IS NO CURE! No therapy, no treatment, nothing!

Who wants to know that they would develop an incurable disease in the future? Wouldn’t people be better off not knowing?
He started feeling dizzy, but the questions kept shooting into his head like little lightning rods: How would this kind of information affect the families, the husbands, the wives, the children?

‘Hey, you have about 15 years left before you turn into a vegetable and there is nothing you or anybody can do about it!’

What about the unborn babies? Are 50-or-so years of healthy life enough to prevent a dramatic rise in induced abortions?
And what happens if insurance companies get their hands on this kind of information? Will people be refused health insurance because they have a 98% chance of suffering from this condition? 98% with a 3% false positives rate! Although not massive, he realized quickly, that this false positive rate means 3 people in every 100 diagnosed will not develop the disorder. What about those? Will they have been aborted, or will they be scared all their life waiting for the disease onset? Will they spend their life uninsured for no reason whatsoever?

Why did he always believe that his potential discoveries would change the world for the better?
‘Maybe they will one day’, he tried to make himself feel better, but the sadness was sticking to him like cold chocolate sauce. He just couldn’t shake off the feeling, that the discovery which he thought would change his life to the better, could potentially have such negative effects on so many lives – the diagnosed, the families, the friends.

He was turning and twisting in his bed which seemed so uncomfortable. He must have fallen asleep at some point, a short and uneasy night. The alarm clock went at 7am. He wanted to get to the office early to print out his figures and just make some minor adjustments to his data presentation before meeting with his supervisor. On his way to work he couldn’t help himself but think about where his supervisor would want to publish his work. He knew that it was his supervisor’s dream to become a leading investigator in the field of predictive medicine and this could be their big break. Nature and Science came to his mind and that made him smile. Not only would he publish in one of the most admired science journals around, but he would not have to listen to all the abuse from his acquaintances any longer. What a day this would be!

He passed his favorite coffee bar on the way to the office. He was not thinking about Nature or Science anymore, but about the implications of his work and he felt sad again.

But what could he do?
Just before he entered his supervisor’s office a brief thought entered his mind:
‘What if he couldn’t live with the knowledge that his findings could potentially destroy so many lives?’ ‘Could somebody find a cure?’
’Somebody will find an effective treatment!’
‘Maybe even a cure!’

Then he entered the dark cave that was his supervisor’s office.