EMILY KWONG, HOST:
You're listening to SHORT WAVE from NPR.
GABRIEL SPITZER, HOST:
Hey, SHORT WAVErs. Gabriel Spitzer in the host chair today here. So let's say you got some really, really bad news that you may have inherited a genetic mutation that would, in all likelihood, cause incurable fatal disease, but you don't know when. So how would you react? Well, Sonia Vallabh and Eric Minikel were newlyweds starting promising careers in law and urban planning when tragedy struck Sonia's family. It came in the form of prion disease. Now, we dug into these strange infectious agents in our last episode. Prions are self-replicating proteins that can cause devastating brain disease. And while science has learned a lot about what they are and how they work, there's no known cure or treatment. But back in 2010, Sonia and Eric didn't know any of that.
ERIC MINIKEL: Mostly what I remember about that phase right after we got married is how brief it was. You know, we'd already had a courtship. We'd already fallen in love. And after we got officially married, it was really only a few months until some things really started to change.
SONIA VALLABH: My mom was - she was a person who really loved being a mom, who really loved sort of lavishing care on other people. So she had a big repertoire of South Indian cuisine. And a specialty was she would make dosas. You know, my cousins and I would have dosa eating contests. And she would just be standing at the stove, making one perfect dosa after another.
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VALLABH: She told me that she was seeing an eye doctor because her vision was a little blurry. She and my dad both mentioned that she'd started losing weight, and they didn't really know why. These seemed like small things. When I spoke to her on her birthday, it was March 17, 2010. That was the day that I sort of came to this heavy realization that something was really wrong because she wasn't able to talk to me in a normal way. She would kind of begin a sentence and then trail off and then begin a sentence again and then trail off. And it wasn't a regular conversation. And that's when I realized that something bigger was happening.
MINIKEL: And then it was after Sonia had that phone call on her mom's 52nd birthday that I saw reflected in Sonia the full horror of what was happening, right? It was like watching a reaction video. You don't see the gory thing that happened in the horror movie. You just see someone's reaction to it.
SPITZER: Today on the show, Sonia and Eric bring us their story of finding hope in a hopeless diagnosis and the winding path that they've been on ever since. You're listening to SHORT WAVE, the daily science podcast from NPR.
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SPITZER: Once it became clear that Sonia Vallabh's mom was seriously unwell, the hunt was on for a diagnosis. That turned out to be really difficult. Scans and tests generated a lot of theories but nothing solid. And by spring of 2010, her mom's situation had become really dire. Sonia and Eric are going to take the story from here.
VALLABH: At this point, different neurologists at different hospitals were all understanding that something was wrong and that we needed a diagnosis. But nobody was able to provide that. And a lot of different tests and scans were done, and a lot of different theories were thrown out. By May, this had become a really debilitating physical problem, as well. She would frequently fall just walking around the house, and if she hit her head when she fell, she was too confused to communicate whether it hurt, how much it hurt. So at this point, she was requiring sort of 24-hour care. Very simple things - bathing, eating, going to the bathroom - suddenly, everything is incredibly hazardous.
MINIKEL: In June, Sonia's mom came to Brigham and Women's Hospital in Boston to get diagnostic tests done. She was the subject of a neurology grand rounds. That was the first time I saw her with my own eyes. And it was a state I didn't know a person could be in. She would make these utterances that I can't do an impression of. I just can't get my brain to work that way. Occasionally, she would speak a sentence that was intelligible, but the content of it wouldn't make sense. She moved constantly. She couldn't sit through a meal.
VALLABH: Every time there would be a new hypothesis and a new test run, even if it was for something horrible, we would get this, like, spike of hope because at that point, even having any information would have been such a gift. But everything was still negative, negative. It wasn't clear. Is this going to go on for a year or for 40 years? Should my dad quit his job? Should I quit law school? Should everyone throw everything up in the air, or should we keep trying to live our regular life and care for her, too? And it wasn't until December - and at this point, she had been on life support for six months - that a test that had been run early on that had come back negative at first came back positive. And she was given a preliminary diagnosis of Creutzfeldt-Jakob disease.
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MINIKEL: One of the first things that stuck out to me is that 15% of cases are genetic. But in my head, if you have a genetic disease, you have a family history. And there was no family history here. No one else in the family had ever died of anything like this. And so we quickly dismissed that. We said this must be the 85% that are sporadic.
VALLABH: She had a living will that said that she didn't want to be kept alive with a terminal diagnosis, but she didn't have any diagnosis. When this preliminary diagnosis of CJD came back, that allowed us to have some very difficult conversations around taking her off of life support. And that is what ultimately happened. And she passed away on December 23, 2010.
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VALLABH: We were releasing her from what had increasingly come to seem like torture. It was very increasingly impossible to picture that she was going to work her way back to health, and that no longer seemed like the most loving thing to wish for her.
MINIKEL: By the time Sonia's mom passed, she had already been gone for a really, really long time, right? By July, she was on life support. She was mute, never said a word again, was permanently ventilated at one point. And so, you know, it was pretty close to being comatose. So yeah, when she finally passed, it was actually a relief.
VALLABH: You know, we continued to live our life here in Cambridge. We continued to try to spend a lot of time talking to and being with my dad. And in October, we went home. And the Sunday that Eric and I were flying back to Boston, right before we were supposed to leave for the airport, my dad took me aside. He took me into the master bedroom. He sat me on the edge of the bed. He said, there's something we have to talk about. It's about Mom. And my stomach went through the floor. And that's when he told me it's about Mom's disease. It was genetic. It's just one of those moments where you're in total freefall. I went to the airport, and I told Eric when we were on our flight back, and we just held each other. We were just totally scared and totally sad.
MINIKEL: I didn't learn what Sonia had learned until we were already on the plane and in the air, and I was weeping and clutching at Sonia, and flight attendants kept coming by asking, is everything OK? And what can you say? It wasn't.
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VALLABH: So there was a 50% chance that I'd inherited the mutation that caused my mom's disease. And Eric and I both felt that we were the kind of people who wanted to know. So we moved right away in the direction of getting tested. The doctor delivering the results said, the same change that was found in your mom was found in you.
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MINIKEL: Sonia is my soulmate. I had found this person who was the other half of me, right? Her brain and my brain are two halves of a whole. And I felt like we went through every step of that grieving process together. And I kept feeling, this can't be, right? It can't be that we don't have the time together that we thought we had.
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VALLABH: Our friend Stevie came over. He is just this sort of scientific renaissance man. Loves science. And he came over and brought a thumb drive with articles about prion disease and said, people are working on this. You need to read about it. And it was only a few days before we were curious enough to look at what was on it. And this was a big parting of the curtains for us 'cause we had spent this horrible year dealing with the clinical reality that there is nothing you can do about prion disease, and there were groups of people devoted to understanding prions who had been working on this for decades. And that was such a little beacon in this very, very dark chapter.
This became sort of a consuming pastime - like, evenings, weekends - and it drew us in. So the process of learning about prion disease became this thing that we wanted to be doing all the time. You know, I started taking night classes, and I started walking into classes around town. And here I was starting at the absolute bottom of a brand-new, super technical and specialized field learning the vocabulary. But it didn't feel small or embarrassing or impossible; it felt really exciting.
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VALLABH: I ended up talking to a TA for one of my night classes. He said, let me get back to you. And then came back to me with a opening in a lab at Mass General Hospital. And it was sort of a neurogenetics lab, and they needed a technician. And I ended up getting that job. Suddenly, I was actually working in science - right? - in this very humble role, but I was working in science every day. I would come home excited and be talking to Eric about it. And it was only a couple of months after that that he left his job and took on a new role as a bioinformatician also at Mass General. So that was how we ended up transitioning our livelihoods to science.
MINIKEL: I mean, it was what we were thinking about, right? You know, we were having these science nights. We were having conversations about it. We were - I was reading papers, trying to read papers, not understanding them, mostly. This idea that it was actually possible for us to make the leap and be doing science full time - I was like, well, I can't be left behind, right? We got to both throw ourselves into this, all-in then.
VALLABH: And then at a certain point, I was looking back and thinking, I don't think we're going back. Like, we're riding this powerful wave. So what does it look like for us to continue?
So Eric and I have our Ph.D.s in biological and biomedical sciences from Harvard in 2019, and we now run an independent prion research lab focused on drug development at the Broad Institute of Harvard and MIT.
MINIKEL: The lab's mission is to develop a preventive drug for prion disease. We'd love to also be able to treat people once they're sick, but I think the highest good that we can do is to prevent the disease in people where we know that they're at high risk. And we already know how to do that at a high level.
VALLABH: In some ways, the closer we get, the scarier things become. Every single day, I feel that we are racing against the clock. And there are many things that kind of, like, fill me with, like, wonder about our quest. One is how close the race is 'cause 10 or 20 years ago, we did not have the tools, and, you know, 10 or 20 years from now, absent a drug, we don't know if I will be here to fight this fight.
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VALLABH: But here we are in this exact moment. Like, how can the race be such a nail-biter? And yet it truly is, every single day.
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SPITZER: In our next episode, Sonia and Eric talk about their research and why they feel hopeful about it. Plus, we'll learn what it's like to run a lab, tackle a fatal disease and raise a couple of lively children, all with your spouse.
This episode was produced by Berly McCoy and me, edited by Gisele Grayson and fact-checked by Abe Levine. The audio engineer was Patrick Murray. I'm Gabriel Spitzer. And thanks, as always, for listening to SHORT WAVE from NPR.
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