My wife has a fatal, dominant genetic disease, and in spite of this, I count us among the luckiest people to have ever lived.
Mostly this is because we have each other.  But also because we have careers we love, a cause we’re passionate about, and a fiery hope that animates our every day.  All of which is new, and inextricably tied to the era in which we live.
When we found out in December 2011 that she had inherited from her late mother the mutation that causes fatal familial insomnia, we had no background in science.  I had studied city planning and she had studied law, and we had careers we felt okay about and no particular cause other than living a good life.  But we weren’t willing to take bad news sitting down, and because it was the 21^st century, we didn’t have to.
I see now that I had never shown proper gratitude for the Internet until that time in our lives.  We embarked on a heretofore-impossible binge of Wikipedia and Open Access papers, learning everything we could about fatal familial insomnia.  It’s a genetic prion disease, meaning the mutation creates a deformed version of the otherwise-innocuous prion protein (PrP), causing it to form infectious protein particles called prions, which can spread across the brain.
To record and organize our thoughts we created a WordPress blog, CureFFI.org.  After some night classes, Sonia swapped her old job for a position working with induced pluripotent stem cells and I swapped mine for a position in bioinformatics – surely two of the world’s newer job titles – in a Huntington’s disease lab.  The blog continued to be a repository for all we learned, and eventually it became half of my brain.  Writing posts is how I check that I understand a new concept.  Searching for them is how I find that one citation I need or grab that version of the Python code that I know for sure worked.  When our site went down for a few days in Fall 2012, my productivity dropped by half.
Something else remarkable happened.  From the beginning we’d been cold-emailing prion researchers we’d heard about or read about to try to talk to them and hear what they were working on, with about a 20% reply rate at best.  As the months went by and posts piled up, our blog began to hit top 5 in the Google rankings for the incredibly specific terms that only people in the field would ever search for: PrP alpha cleavage, conformation-dependent immunoassay, doxycycline CJD.  Soon I started getting messages through the Contact Us form from names I only knew as authors on papers, saying they liked the blog and would I like to Skype sometime.
A few months ago, I got one such contact from Dr. Armin Giese, a researcher who had read my review of the new anti-prion drug candidate he had just published: anle138b.  He turned out to have ambitious plans to push the molecule towards clinical trials and he told me everything he was working on.   I wanted to know if this compound would work against genetic prion diseases, and he didn’t have any data on this.  So last week our non-profit, Prion Alliance, launched a crowdfunding campaign on Microryza to fund a study of this drug in a model of GSS, a genetic prion disease not unlike fatal familial insomnia.  Our friends and family donated first, but within a week, more than half of the donor list was names we’d never seen before: friends of friends who had seen retweets, reshares, news feed updates.  People there was simply no way we could have reached before the social media era.  (Shameless plug: the campaign runs through 9/27 – check it out!)
But despite my soaring gratitude for living in the day of Wikipedia, WordPress, Twitter and Microryza, by far the most indispensable technology for this whole enterprise is: genetic testing.  The mean age of onset for fatal familial insomnia is 49.  Sonia is 29.  When in history has anyone had twenty whole years to dodge a bullet?  As the pace of technology accelerates, the scythe of death seems to move slower in comparison.
The kind of genetic testing we did – sending a blood sample in for Sanger sequencing – isn’t actually as new as the other technologies I mention.  It’s been available to patients pretty much since the mutations that cause most genetic diseases started to be discovered a couple of decades ago – 1992 in the case of fatal familial insomnia.  But it’s on the rise – perhaps due to greater awareness, generational change, anti-discrimination legislation, who knows why else.  In any case, it’s just beginning to achieve its transformative potential.
Here’s one example of why.  Prion diseases are rare, but they seem even rarer than they are because they’re so rapidly fatal.  These illnesses claim about 250 lives per year in the U.S. but the average time from first symptom to death for the most common forms of the disease is just a few months, meaning that probably only 100 or 200 Americans are sick with a prion disease at any given time.  This is a matter of incidence versus prevalence.  The latest estimates for Huntington’s disease would give it an incidence of about 1100 new cases per year in the U.S., making it a bit more than four times as deadly as prion diseases, but with a median disease duration around 20 years its prevalence is more like 100 times that of prion diseases.  And it shows: the number of Huntington’s disease advocates doing everything from blogging to organizing fundraising walks is enormous.  By contrast I find that when I search Twitter for #prion, a significant percentage of Tweets are my own.
This is why when Dr. Giese first contacted me about anle138b, he said I’d changed his thinking on prion diseases.  He had always assumed that the low prevalence of prion diseases put a fundamental limit on how significant a patient advocacy contingent could exist to push research forward.  Unlike in Huntington’s disease, which is 100% genetic, most prion disease cases are sporadic – we have no earthly idea why they happen – and to make matters worse, they’re hard to diagnose.  Most patients don’t get a correct diagnosis until 2/3 of the disease has already passed.  By the time the family hears the words “Creutzfelt-Jakob disease” their loved one is inches from death.  They are devastated, but by this point there is nothing they can do for their loved one.  A soulful and devoted few do choose to get involved in research or advocacy – these are incredible people whom I admire and respect deeply – but most just pick up the pieces of their lives and move on.
But here, Dr. Giese said, was a new animal: someone armed with genetic information, with 20 years to devote their life to a cure.  Obviously, Sonia and I are far from the first – we’ve now met tens of other genetic prion disease carriers on Facebook, the blogosphere, and at the CJD Foundation conference – though we might be the first to become scientists.  But collectively we, all of us, are a new animal.
30,000-odd Americans die in traffic accidents each year.  Safety is improving year by year, but I submit to you that if the 300,000 people who will die this way in the next decade knew who they were today and could vote and advocate and fundraise to forestall their own fate, it would be improving a whole lot faster.  But until an accident happens, its hypothetical victim is no one in particular, it’s just a Schroedinger’s cat, .0001 of each of us.
For genetic diseases it doesn’t have to be this way: testing can give us decades of advance notice to take action.  Of course, for genetic results that are immediately actionable, such as Angelina Jolie’s BRCA mutation, the benefits to the individual are clear (though that isn’t the end of debate on the matter).  For diseases with no treatment or cure today, whether to get tested is a deeply personal decision.  We think there are lots of good reasons to do it, but that doesn’t mean it’s right for everyone.  However, at an aggregate, societal level, the benefits of genetic testing are undeniable.  We finally have the power in our hands to analyze enormous datasets, and that means we need enormous numbers of people – every one of the thousands of datapoints in my Huntington’s disease datasets is a single brave person who made a personal decision to enroll in a clinical study and share their genetic information.  And we need more.  So too with every private dollar that’s fundraised, every NIH dollar that’s allocated, and every discovery made by researchers who became scientists after learning their own genetic status – and by researchers inspired by a personal connection to patients they care about.
One of the arguments I’ve heard for not getting tested is the fear of determinism; that knowing one’s fate might taint every day in between.  I submit there is no such thing as genetic determinism.  None of us know our fates.  We only know that the future is what we make it.
Eric Minikel is a Computational Scientist at the Center for Human Genetic Research at Massachusetts General Hospital and a co-founder of Prion Alliance, a non-profit research foundation devoted to finding a treatment or cure for human prion diseases.  He and Sonia Vallabh changed careers and started Prion Alliance in 2012 after learning that Sonia had inherited the genetic mutation that causes fatal familial insomnia.  The views expressed here are Eric’s own.