For hundreds of years, prominent practitioners of medicine believed that miasma was responsible for disease. This so called “bad air” was thought to arise from rotting flesh and to contaminate its surroundings. This idea was widely believed and identified convergently in various traditions, from the ayurvedics in India to the plague doctors in Europe. As epidemics decimated the population, artists drew black robed spectors with scaly feet and sickles – miasma, the very incarnation of Death.
In 1546, Girolamo Fracastoro described a theory in which epidemics are caused by seeds that transmit disease through either direct contact or indirectly. In the coming centuries, various scientists proved links between disease and organisms –Louis Pasteur, who connected puerperal fever and Vibrio; Ignaz Semmelweis, who realized that women died disproportionately in delivery when attended by physicians responding directly from autopsies; and Robert Koch, who at long last solidified germ theory as the basis for infectious disease. He proved that organisms cause disease. Like all good science in years down the road, this fact seems self evident.
In 1972, Stanley Prusiner met a patient with Creutzfeldt Jakob Disease (CJD.) A devastating neurologic disease, it literally causes the brain to develop large porosities and to look like a sponge on autopsy. CJD is just one of several known spongiform encephalopathies, which include Kuru, a disease transmitted by cannibalism in Papua New Guinea; scrapie, which affects sheep; and the most famous, Bovine Spongiform Encephalopathy, better known as Mad Cow Disease. These diseases are universally fatal. All of them were thought to be due to a “slow virus” that had never been isolated.
Ten years after his fateful encounter with a CJD patient, Prusiner published a paper in Science that identified the cause of these diseases: not an organism, not a bacterium or a virus, but a protein. His experiments described how this protein, found in abundance in the brain, when misshapen, could somehow induce the rest of their proteins to refold themselves the wrong way. His data described not an infection by a living thing, but a completely novel disease causing process. It involved no DNA or RNA, it involved no replication or gene expression. It just involved one molecule with the wrong shape causing everything around it to fall apart.
The ensuing fallout from Prusiner’s publication was nasty. Science, real science, is cutthroat. It is competition for funding. It is spreading rumors. It is discrediting. In 1986, an article in Discover accused Prusiner of seeking fame over science – the very worst slur in research. They said he didn’t care about the damage he was doing to the dogma of biology, that he didn’t even care whether or not he was right.
That’s the thing though – sometimes it doesn’t matter if you want to be right, if you are. In 1997, Stanley Prusiner was awarded the Nobel Prize for his identification of prions (infectious proteins) as the causative agents of these transmissible spongiform encephalopathies. And while prions still have detractors, for microbiologists of my generation, we find prion theory to be self evident.
A hard fact about mast cell disease is that the science behind it is being unspooled right now. That is the trouble with learning things in real time – the pull of history is still so strong for many doctors and scientists. They are loath to unlearn the things they know, to look at the data, to change their perspectives.
In the last few days, I have spoken with several people with masto kids who have either had their children removed from their care or who are at great risk of this occurring. And there is another family that I suspect is right now living this nightmare of losing their child because their rare disease is poorly understood and under recognized.
Medical professionals turning aside solid science in favor of accusations and ego is not just a failing in the system. It is life ruining, traumatizing, unthinkable. It is a tragedy.
I am not a religious person. But I kneel faithfully at the altar of science. When the monsters howl at the door, science protects us, comforts us, promises us that these horrors cannot go on without end. People say that there isn’t a time limit on important discoveries, but of course there is. If it doesn’t arrive in time to help, it is utterly devoid of meaning.
It is not enough that our bodies try to kill us, that the treatments cannot give us our lives back, that current diagnostic methods are inaccurate. We are told over and over again that we are not as sick as we say, or that we are not sick at all, or that parents project these diseases onto their children, that our suffering is the result of anxiety and overactive imaginations. They take our dignity, our livelihoods, our children.
Saying we are crazy, that we are liars and deceivers, does not make us not sick. It just makes us sick with little chance of effective treatment.
I don’t know how much longer we can live like this, how many more weeks like this I can stand. I don’t know how much longer I can wait for doctors to realize that mast cell activation disorders are real. I don’t know how much longer I can wait for them to agree that these diseases, that our suffering, is self evident.