Pushkin.
He pulls me aside and says, I have to talk to you about something. It's about Mom, And in that moment, I just couldn't picture what it could possibly be, except that it had to be awful.
Sonya Vella was already grieving something awful. Her mom had recently died from a rare disease, and now her dad was telling her that the disease was genetic and that there was a fifty percent chance Sonya had inherited the same gene that killed her mom.
Everything felt scary, and not knowing was taking a huge amount of energy from me. I would wake up every day flipping the coin in my head, and it was like my mind did not have a place to rest. It could never rest.
On today's episode waiting for the coin to flip. I'm Maya Shunker and this is a slight change of plans, a show about who we are and who we become in the face of a big change. Sonia had always been close to her mom. She'd sent her care packages in the mail, they talked on the phone all the time, and when Sonya decided to marry her boyfriend Eric in the backyard of her childhood home, her mom stepped up and planned the entire thing, but the following spring in
twenty ten, her mom began experiencing some troubling symptoms. She was constantly getting confused and had issues seeing. When Sonia called her mom to wish her a happy fifty second birthday, it was clear something was seriously wrong.
That was the first time that I heard that she was not making sense. She would start a sentence and it would be pointed in a certain direction, and then it would just lose momentum and focus, and she couldn't quite get to the end, and it didn't quite add up to a conversation. And when I hung up the phone, I felt a real heaviness that something was really wrong. So it was incredibly scary.
How did things progress from there on out?
In May, I set aside time made a trip home, not thinking that this was a catastrophic scenario, just thinking, wow, Mom is really struggling, and I want to be there. But I stepped out of the airport onto the curb and my dad pulled up and she was sitting in the passenger's side of their car, and she was hauntingly gaunt. She had lost not just weight, but there was something some vitality that had sort of sunken out of her face.
Her whole body had sort of shriveled, and she was wearing I think a night dress with a jacket thrown over it. She was not at that point able to even step out of the car unaided. If she took a step alone, she would fall. And she had lost so much of her sort of cognitive presence that if she fell and hit her head, she couldn't tell you if it hurt or if it was like a big
deal or a small deal. So there was this constant struggle between what she wanted to do, what she was used to doing for herself and believed herself capable of, and ME having to sort of leap to attention and guide her and hold her hand. And it was heartbreaking to feel like I was bothering her, to feel like she just wanted to be left in peace, and I
couldn't do that. She would sometimes go into sort of a full blown paranoid episode where there would be a specific thing that she had on her mind and she had to do it, or like the silly example that I remember is that the remote control that the TV was missing, and she was convinced that it was in the pantry and the only thing that could like address it for her is if I took every single thing out of the pantry and these moments would come up
where the thing that's being asked is not reasonable and doesn't make sense. But how much do you want to resist someone who is so upset and is so confused?
What were doctors saying at this point? Was there any explanation for the constellation of symptoms that she had.
All that could be done was to sort of generate ideas and then test them. So it's constant doctors and work and test results. And what I remember most from that time is that every test that was done, even if it would have been quite a bad diagnosis, we were so hopeful that it would come back positive, just so we would know. I do think that the total mystery is part of the great strain of a time like that.
So how long did this state last for with your mom?
I mean, in some ways the state was constantly changing. The falls would come more frequently, and she would have to be rushed to the hospital and she would get scanned, and her ability to make verbal sense continued to go down and down to the point where she wasn't really able to communicate with us, and what sort of began as a trickle of supportive systems kind of escalated to full blown life support over the course of the summer.
It was harder and harder at that point to see any form of engagement between her and the world except pain, and that went on for many months, because this is something I look back on with a lot of regret and sadness. But we didn't have a diagnosis, and she had written in her living will that she didn't want to be kept alive with a terminal diagnosis. But absent a diagnosis, we couldn't get a family consensus over whether her condition was terminal or not.
So I'm just reflecting on what it's like to have a loved one on life support, knowing this directive and not being able to do anything. That's just like yes, hell on Earth.
For me and my dad in particular, I think we both felt that it was almost too excruciating to stand.
Yeah, did you, at any point along the way get an answer about what afflicted your mom?
In December, a spinal fluid test came back that gave the doctors enough confidence to say we have a possible diagnosis of preon disease.
Do you mind sharing a bit more about what preon disease is and what kind of impact it has.
Sure, so, pre on disease. It's a rapidly progressive dementia and it causes people to sort of lose all of their abilities, which is really where my mom was at the end, just not able to move, not able to speak, and preon disease is unusual for being able to move so fast. Sometimes it was like watching a time lapse video of someone grow old. I just couldn't believe that
it was actually progressing. Every day we hear stories about people dying within weeks of their first symptom, and the average is maybe five months from your very first symptom. It is just astoundingly quick, and you compare it to other neurodegenerative diseases, and this one is like a lightning strike. Preon disease is terminal, it is untreatable, and on the basis of that, we were sort of able to gather and come through a consensus to take her off of
life support, so that happened right before Christmas. We brought her to the local hospital where my dad had worked for you know, thirty years, and that's where she passed away. And even that day, that floor of the hospital was just packed with people with our loved ones, and her funeral was huge, and it really meant something to have
this huge upswelling of support. I would say that against the backdrop of this incredibly lonely and confusing year, and given that it was really along the way that I had been saying goodbye to my mom and not at the moment she died. Putting all that together, her death was like the best part of that year.
So what did the aftermath look like for you and your family after your mom passed?
So I felt myself trying to step back into a rhythm of daily life and with you know, fits and starts, with good days and bad days. But I became concerned as the months went on that my dad wasn't doing well. When we were home in October, this is ten months out and Eric and I are home in Pennsylvania and seeing my dad in person, he did seem worse than he had just a few months prior, and so tired, and I found that I was really worried about him. And then as Eric and I are preparing to leave.
My dad pulls me aside and says, I have to talk to you about something about Mom. And in that moment, the sort of wrongness that I had been sensing around me, I could feel it coming to a head, and I felt it in my stomach like I knew that whatever came next it was going to connect these dots. I just couldn't picture what it could possibly be, except that it had to be awful. So I just waited to be told. And what he told me was it's about mom.
It's about Mom's disease. It was genetic. So that's how I learned that I was at fifty to fifty risk of having inherited the mutation that causes genetic prean disease that had killed my mom.
How do you respond to news like that, Sonya.
Physically, what I felt was that everything was falling, and me as well, all just falling like through open space. I was sort of catapulted into a space of like eerie clarity. I remember asking my dad really specific questions, like is this mutation dominant or recessive? And he's a physician, but what he said to me in that moment was I don't know, and I don't believe that he didn't know what I believe was. He had had to push himself so hard to convey that piece of information to
me that he was at his limit. So I think he was the person suffering the most, not just in that day, but in all the days since he had received this information and fretted about it and thought about how to tell me. I also, in that first moment, besides just marveling at what he had been dealing with silently alone, my mind went immediately to Eric and how
this could be true for him. I felt immediately that I couldn't go to pieces because this couldn't possibly be as bad for me as it was for my dad, and as it was going to be for Eric.
How and when did you tell Eric?
We had to go to the airport, and somehow that still seemed important to catch our flight. So I didn't tell him before we left the house, and I didn't tell him on the road. But he knows me. It was so obvious that I was holding something really really heavy and trying to time when I was like release that information. It was just torturing him. So we got there and we got on the plane, and I told him on the plane do you remember the exact words you shared with him, like what were you able to
get out? My best guess at the exact words would be, my mom's disease was genetic and I'm at risk. I remember that he cried and I held him and he said at one point, how can they do this to us? The feeling that I remember from that conversation is like the force of trying to rip a piece of paper or a piece of fabric in half with your hands. That was the feeling in my mind. There was just this unbearable feeling of our world breaking, of it being
torn apart. Like I remember a flight attendant coming over and asking if we were okay, asking if Eric was okay, because we were just holding each other and crying. The plane got us home, and immediately we took the next day off work, like everything that I did felt scary, Going to sleep felt scary. That next day we called the National pren Disease Surveillance Center. We talked to people there. We were very, very set on finding a way to get tested right away.
You know, you say it so straightforwardly, and it's so not obvious to me in that situation that I would have chosen to get tested or wanted someone I loved to get tested. And so I'm so curious about your psychology at the time and how it is that you and Eric came to the decision, Like was it even a point of conversation? Now?
That's the interesting thing is at the time it wasn't framed up like a decision that we were making together. It was an stinct that we both had people say to me all the time. But is an ignorance bliss and I think there are scenarios in which it can be. I just think that that was not the option in
front of us. We both understood. I think from that first moment that limbo for us was torture, and that this only deepened as the weeks ticked along and we were scurrying around trying to figure out how to get me tested, and it was hoop after who we were jumping through, and the limbo was getting prolonged. I would wake up every day flipping the coin in my head and it was like my mind did not have a place to rest, it could never rest.
I think it is such a relatable feeling that you're describing, because living in a state of uncertainty really can feel torturous. Right.
There's this one study from psychology that I love sharing and talking about, which is that people are more stressed and they're told they have a fifty percent chance of getting an electric shock than when they're told they have a one hundred percent chance, which means we'd rather be certain that a really terrible thing is going to happen than to have to manage with any feelings of uncertainty
and ambiguity. And it's just wild to see the result from that small little study play out in your life. I mean, you experienced the real life version of.
This, yes, exactly. I mean also on my mind was the idea that there was a fifty percent chance that I could set my dad and Eric free from having
to worry about this. So that was a big thing, and I really felt not knowing was taking a huge amount of energy from me, and that if I knew one way or the other, that it would require rearrangement of the stuff in my head, but then we would reach a stable place where it wasn't a constant balancing act of weighing the fifty percent good and the fifty percent bad, and it wouldn't ambush me at surprising moments that Limbo it played games with me. I'm not a
superstitious person, but I felt superstition trying to get in. Yeah, I could feel it, trying to seep through the crack, trying to look for signs and things like that. Yes, And I was like, this is not how I want to live. I don't want everything in this world to seem like some pointer at this fact that I could just choose to learn instead of guessing for the rest of my life.
After the break, Sonia gets the test results. We'll be back in a moment with a slight change of plans. Sonya was twenty seven when she found out she was at risk for a fatal neurodegenerative disease, a disease that had killed her mom at fifty two. Doctors told Sonya there was a fifty to fifty chance she had inherited
a mutation that causes the disease. At the time, Sonya was fresh out of law school and newly married to her husband Eric, and for her, living in Limbo was not an option, so she decided to get tested and find out if she had the mutation. If I had asked you at that moment in time. If this comes back yes, will it meaningfully change the way that you live your life moving forward? What would you have told me?
You know, I had one clear vision for how it could change my life, which is that if it came back yes, I knew that Eric and I could try to jump through a bunch of fancy hoops to have kids who didn't inherit my mutation. And I think I would have said, if it comes back positive, we are going to try our darnedest to have healthy kids. What
was it like to get the results. We're sitting in this procedure room where the test is going to be unveiled to me, and people are sort of coming and going and just doing their jobs as people do in that hospital environment. And a couple of people came by and they were laughing, and then they laughed, and I was like, Oh, if like someone was about to receive potentially the worst news of her life in this room, they wouldn't be laughing, which of course is not how
it works. And then the doctor said to me, the same change that was found in your mother was found in you. And I had the same response to when my dad had told me I was at risk in the first place, I got very calm and I held on to Eric. It was mostly we just need more information. My mom's age of onset was fifty one, but it doesn't predict mine at all. It could basically happen any time in adulthood.
Wow.
I called my dad and he got on the next flight and came and spent the weekend with us. And my memory of that weekend is that we spent it sort of qietly doing normal things together, like everything hadn't sort of blown away in the wind when the test result was revealed. And I think for me, normalcy in those next few days came from holding on to the idea that nothing had acutely changed. My body hadn't changed, that information had always been there.
What you said is so simple and yet so poignant and powerful, which is the recognition that while this is an earth shattering shift in one's psychology, the awareness that you are positive for this mutation, your body hadn't really changed in the minute before hearing the answer and the minute after hearing the answer.
Yeah, definitely. And I remember thinking, even in those early days, like whatever the truth is, it always was, Yes, exactly, this is me. These are the terms on which I was born. This is the body that I get.
But you had said something that was very interesting, which was Eric asking on the flight, how could they do this to us? And I don't know who they refers to, but was there any feeling of anger at the universe that was that this was the body you were born into.
I didn't feel a great instinct to shake my fist at the universe about it, and it really surprised even me. Even in those early days, like I would say, two or three weeks after getting the test report, I was already in a much better place than when I was in the limbo.
Tell me more about that, because it's not like there were a bunch of action steps you can take right for me anyway, in my brain, the reason why I value answers and definitiveness and certainty is when I feel I can act on that information. Yes, And so I am trying to figure out in just those early days and weeks where the source of comfort came from, given that there were no quote action items.
Yeah, I think one source of comfort was just the amount of energy I got back from not having to manage the limbo. Got it and something that brought me comfort. It has taken me a long time to be able to articulate this. But the experience of my mom's death and her illness to me has sort of concentric circles around it. Where dying at fifty two is tragic, losing
her young would have been tragic no matter what. And when I look back at all this now, I see like a primary tragedy of her dying young, and then a secondary tragedy of the ways in which it was prolonged and made more excruciating and more uncertain and more uncomfortable in every way. It brought me a certain amount of comfort to think this exact thing could happen to me. But we wouldn't be going in blind right, that secondary tragedy wouldn't have to happen.
Yeah, you could end your life with dignity, You could choose things on your own terms. Right, it would be a completely different process. It's strange to say right that that was a source of comfort, but really it was. You made a remarkably unusual pivot, I mean, with you and your husband. And to set the scene for listeners, at the time, you were a recent law school graduate.
Your husband was a transportation engineer, and yeah, then you guys had your next slight change of plans, do you mind just so you bring me on this world wind journey of what happened next.
There was like a pivotal event, which is two weeks after I got my netic test report, a friend shows up with a thumb drive and he says, people are working on this, like, you guys need to take a look at these articles. Inwardly, my feeling was, hey, man, like,
we're still grieving. That's not the page we're on. But he left the thumb drive at our house and it was only a few days later that we were curious enough to open it up, and just seeing that he had managed to put together it was probably eight or ten articles about drug development for preon disease changed things for me because my mom's experience it had really convinced me that no one knows anything about this, it is
so rare. But I realized that behind the scenes, there were people who actually cared a lot about this specific rare disease and knew a lot and cared enough to try to develop drugs.
And so what did that lead you to?
About a month after getting my test report, ended up quitting my job, thinking I'm taking a step back, because I need to right now to sort of sort out this piece of my life. I need to spend some time building a vocabulary so that I can advocate for myself in this space. I would walk into classes at MIT, which like fortuitously was like down the street from our apartment, and I'd go up to the professor and say, here's my deal. Can I sit in? And no one ever said no.
And these were like biomedical classes biology, Like what were these classes?
Yes, So it was everything from cell biology to biochemistry to there was like a class called protein misfolding and disease. I was all in. I had the energy for it. I would come home just like bursting to tell Eric about all of it. And it was only a few months before he was saying, hey, like this feels right and I don't want to get left behind. I think we suddenly felt emboldened to dream bigger. And the thing
we ended up deciding was there's enough science. There's enough that's known for us to stand on top of that and try to reach for a therapy in an informed way. And that is the thing that's missing, So that needs to be us. Yeah, we took this big gamble and we enrolled in a PhD program, hoping that we could find a place, a lab that would support us to chase our mission while being students, and we got extremely lucky.
We did our PhD work under some really unbelievably supportive mentors, and we got our PhDs in twenty nineteen and we have been leading our own independent preon research group ever since.
So, Sonia, first, I want to just take a moment to appreciate how extraordinary it is that you and Eric have made this pivot. It's so inspiring to me the way that you found agency in a world where you were given so little, and then also just like get science PhDs out of the blue, like you don't even have I'm assuming you didn't have science backgrounds. I mean,
it's just been snow. Yes, it's just extraordinary. Can you tell me a bit about the progress that you've made and what it is like for you and your partner to be fighting for your life in the work that you do day to day. I mean it's fairly unusual for someone's work to truly be their life.
Yes, I mean, when I look back, I have to say that I think we've been extraordinarily fortunate to have made the progress that we've made for us. That's enhanced by the feeling that we're racing against a clock that we can't see. We have no idea when I'll have onset, and that is just a property of genetic preon disease. Drug development is so much more complex and undertaking than I ever could have pictured from the outside. It is massively,
massively difficult. I think that at this moment we have hope around having the right ideas and the right tools that exist on earth to do the job. And in some ways, the closer we get, the more jeopardy I feel there is, because in the beginning we had nothing to lose, but now we actually have prospects for useful drugs. And I am more heartbroken now by the people who write to me and say my loved one is dying today, because I feel that we are close, and the closer
we get, the harder it's going to be. So, you know, to bring listeners up to speak with your current day life. You and Eric did move forward with having children. Their embryos were genetically screened. You stop the transmission of PREANMPT
disease in both your children. I can imagine in any given day, thinking, do I spend more time in the lab because we might be on the cusp of a really valuable therapeutic, or do I go home and spend the rest of the day with my kids because I don't know how much time I have left, Like it would just it introduces attention that it's very challenging, and I'm sure there are people listening right now who face some variant of this tension in their day to day lives. Sure,
parenthood became this new dimension of our life. I think in some ways it has been very healthy for us to have something outside of work that is in its own way, so complex, so demanding, so totally immersive, because I think for our personality types, we couldn't step out of the intensity of work and then just kick back, right like I think, you can't just subtract. You need to substitute in a way with something that is equally gripping,
and that's certainly what parenthood has been for us. I find that they just bring out a different dimension of what a liveness is for me. I really think of my relationship with my kids as being something that's happening now and that is not at all to sort of morbidly say, oh my god, I might not be here next year. Although that's very much the case, It's not so much the negative valance of like I might miss all this stuff, so much as the positive valance of
anything could happen. Tremendous Uncertainty just is the nature of our world, and we have each other right now. When I think about myself dying young, which I certainly could, I would fear, I think more than just that tragedy is Eric and the kids sort of taking on that
mantle and self conceptualizing as a tragic family. I want them to all take satisfaction that we put our love in action and we did everything we could, and that Mama and Baba are doing science to try to develop a treatment for this rare disease.
You told me in the beginning of our conversation, Sonya, that you have that allergy towards uncertainty, right, and that's one of the reasons why you were so eager to figure out if you are positive or negative for this mutation. And I'm curious to know how your relationship with uncertainty has evolved and what your relationship with control is like today.
Finding a route through which I could take some agency in those early days of having my diagnosis made a huge, huge difference, And I think at a certain point, you push absolutely as hard as you can, and then you take satisfaction in the fact that you pushed as hard as you could. And I think in terms of like, gosh, not to be melodramatic, but like avenging my mom's death.
I feel like we've done her proud. It's just within the past few years that I have started to feel a sense of like the piece on the other side of all of that scrambling. I really think that we are at the turning point where we see preon disease in the middle distance as a treatable and preventable disease. We have been part of turning the tide on this thing.
Whether it gets done in time for me, I would love for it too, but I also have come to believe that I need to get my satisfaction from what we're doing now.
Hey, thanks so much for listening. If you enjoyed my conversation with Sonia, you may enjoy my chat with neuroscientists David Lindon. Will include a link to the episode in the show notes. It's called a neuroscientist curious approach to dying. Enjoy me next week when I talk to psychologist Hal Hirschfield about the emotional connection we have to our future selves and the benefit of strengthening that connection. See you next week. A Slight Change of Plans is created, written,
and executive produced by me Maya Shunker. The Slight Change family includes our showrunner Tyler Green, our senior editor Kate Parkinson Morgan, our producer Trisha Bobita, and our sound engineer Andrew Vestola. Luis Scara wrote our delightful theme song, and Ginger Smith helped arrange the vocals. A Slight Change of Plans is a production of Pushkin Industries, so big thanks to everyone there, and of course a very special thanks to Jimmy Lee. You can follow A Slight Change of
Plans on Instagram at doctor Maya Shunker. See you next week.