Speaker 1: Pushkin.
Speaker 2: He pulls me aside and says, I have to talk
Speaker 2: to you about something. It's about Mom, And in that moment,
Speaker 2: I just couldn't picture what it could possibly be, except
Speaker 2: that it had to be awful.
Speaker 1: Sonya Vella was already grieving something awful. Her mom had
Speaker 1: recently died from a rare disease, and now her dad
Speaker 1: was telling her that the disease was genetic and that
Speaker 1: there was a fifty percent chance Sonya had inherited the
Speaker 1: same gene that killed her mom.
Speaker 2: Everything felt scary, and not knowing was taking a huge
Speaker 2: amount of energy from me. I would wake up every
Speaker 2: day flipping the coin in my head, and it was
Speaker 2: like my mind did not have a place to rest.
Speaker 2: It could never rest.
Speaker 1: On today's episode waiting for the coin to flip. I'm
Speaker 1: Maya Shunker and this is a slight change of plans,
Speaker 1: a show about who we are and who we become
Speaker 1: in the face of a big change. Sonia had always
Speaker 1: been close to her mom. She'd sent her care packages
Speaker 1: in the mail, they talked on the phone all the time,
Speaker 1: and when Sonya decided to marry her boyfriend Eric in
Speaker 1: the backyard of her childhood home, her mom stepped up
Speaker 1: and planned the entire thing, but the following spring in
Speaker 1: twenty ten, her mom began experiencing some troubling symptoms. She
Speaker 1: was constantly getting confused and had issues seeing. When Sonia
Speaker 1: called her mom to wish her a happy fifty second birthday,
Speaker 1: it was clear something was seriously wrong.
Speaker 2: That was the first time that I heard that she
Speaker 2: was not making sense. She would start a sentence and
Speaker 2: it would be pointed in a certain direction, and then
Speaker 2: it would just lose momentum and focus, and she couldn't
Speaker 2: quite get to the end, and it didn't quite add
Speaker 2: up to a conversation. And when I hung up the phone,
Speaker 2: I felt a real heaviness that something was really wrong.
Speaker 2: So it was incredibly scary.
Speaker 1: How did things progress from there on out?
Speaker 2: In May, I set aside time made a trip home,
Speaker 2: not thinking that this was a catastrophic scenario, just thinking, wow,
Speaker 2: Mom is really struggling, and I want to be there.
Speaker 2: But I stepped out of the airport onto the curb
Speaker 2: and my dad pulled up and she was sitting in
Speaker 2: the passenger's side of their car, and she was hauntingly gaunt.
Speaker 2: She had lost not just weight, but there was something
Speaker 2: some vitality that had sort of sunken out of her face.
Speaker 2: Her whole body had sort of shriveled, and she was
Speaker 2: wearing I think a night dress with a jacket thrown
Speaker 2: over it. She was not at that point able to
Speaker 2: even step out of the car unaided. If she took
Speaker 2: a step alone, she would fall. And she had lost
Speaker 2: so much of her sort of cognitive presence that if
Speaker 2: she fell and hit her head, she couldn't tell you
Speaker 2: if it hurt or if it was like a big
Speaker 2: deal or a small deal. So there was this constant
Speaker 2: struggle between what she wanted to do, what she was
Speaker 2: used to doing for herself and believed herself capable of,
Speaker 2: and ME having to sort of leap to attention and
Speaker 2: guide her and hold her hand. And it was heartbreaking
Speaker 2: to feel like I was bothering her, to feel like
Speaker 2: she just wanted to be left in peace, and I
Speaker 2: couldn't do that. She would sometimes go into sort of
Speaker 2: a full blown paranoid episode where there would be a
Speaker 2: specific thing that she had on her mind and she
Speaker 2: had to do it, or like the silly example that
Speaker 2: I remember is that the remote control that the TV
Speaker 2: was missing, and she was convinced that it was in
Speaker 2: the pantry and the only thing that could like address
Speaker 2: it for her is if I took every single thing
Speaker 2: out of the pantry and these moments would come up
Speaker 2: where the thing that's being asked is not reasonable and
Speaker 2: doesn't make sense. But how much do you want to
Speaker 2: resist someone who is so upset and is so confused?
Speaker 1: What were doctors saying at this point? Was there any
Speaker 1: explanation for the constellation of symptoms that she had.
Speaker 2: All that could be done was to sort of generate
Speaker 2: ideas and then test them. So it's constant doctors and
Speaker 2: work and test results. And what I remember most from
Speaker 2: that time is that every test that was done, even
Speaker 2: if it would have been quite a bad diagnosis, we
Speaker 2: were so hopeful that it would come back positive, just
Speaker 2: so we would know. I do think that the total
Speaker 2: mystery is part of the great strain of a time
Speaker 2: like that.
Speaker 1: So how long did this state last for with your mom?
Speaker 2: I mean, in some ways the state was constantly changing.
Speaker 2: The falls would come more frequently, and she would have
Speaker 2: to be rushed to the hospital and she would get scanned,
Speaker 2: and her ability to make verbal sense continued to go
Speaker 2: down and down to the point where she wasn't really
Speaker 2: able to communicate with us, and what sort of began
Speaker 2: as a trickle of supportive systems kind of escalated to
Speaker 2: full blown life support over the course of the summer.
Speaker 2: It was harder and harder at that point to see
Speaker 2: any form of engagement between her and the world except pain,
Speaker 2: and that went on for many months, because this is
Speaker 2: something I look back on with a lot of regret
Speaker 2: and sadness. But we didn't have a diagnosis, and she
Speaker 2: had written in her living will that she didn't want
Speaker 2: to be kept alive with a terminal diagnosis. But absent
Speaker 2: a diagnosis, we couldn't get a family consensus over whether
Speaker 2: her condition was terminal or not.
Speaker 1: So I'm just reflecting on what it's like to have
Speaker 1: a loved one on life support, knowing this directive and
Speaker 1: not being able to do anything. That's just like yes,
Speaker 1: hell on Earth.
Speaker 2: For me and my dad in particular, I think we
Speaker 2: both felt that it was almost too excruciating to stand.
Speaker 1: Yeah, did you, at any point along the way get
Speaker 1: an answer about what afflicted your mom?
Speaker 2: In December, a spinal fluid test came back that gave
Speaker 2: the doctors enough confidence to say we have a possible
Speaker 2: diagnosis of preon disease.
Speaker 1: Do you mind sharing a bit more about what preon
Speaker 1: disease is and what kind of impact it has.
Speaker 2: Sure, so, pre on disease. It's a rapidly progressive dementia
Speaker 2: and it causes people to sort of lose all of
Speaker 2: their abilities, which is really where my mom was at
Speaker 2: the end, just not able to move, not able to speak,
Speaker 2: and preon disease is unusual for being able to move
Speaker 2: so fast. Sometimes it was like watching a time lapse
Speaker 2: video of someone grow old. I just couldn't believe that
Speaker 2: it was actually progressing. Every day we hear stories about
Speaker 2: people dying within weeks of their first symptom, and the
Speaker 2: average is maybe five months from your very first symptom.
Speaker 2: It is just astoundingly quick, and you compare it to
Speaker 2: other neurodegenerative diseases, and this one is like a lightning strike.
Speaker 2: Preon disease is terminal, it is untreatable, and on the
Speaker 2: basis of that, we were sort of able to gather
Speaker 2: and come through a consensus to take her off of
Speaker 2: life support, so that happened right before Christmas. We brought
Speaker 2: her to the local hospital where my dad had worked
Speaker 2: for you know, thirty years, and that's where she passed away.
Speaker 2: And even that day, that floor of the hospital was
Speaker 2: just packed with people with our loved ones, and her
Speaker 2: funeral was huge, and it really meant something to have
Speaker 2: this huge upswelling of support. I would say that against
Speaker 2: the backdrop of this incredibly lonely and confusing year, and
Speaker 2: given that it was really along the way that I
Speaker 2: had been saying goodbye to my mom and not at
Speaker 2: the moment she died. Putting all that together, her death
Speaker 2: was like the best part of that year.
Speaker 1: So what did the aftermath look like for you and
Speaker 1: your family after your mom passed?
Speaker 2: So I felt myself trying to step back into a
Speaker 2: rhythm of daily life and with you know, fits and starts,
Speaker 2: with good days and bad days. But I became concerned
Speaker 2: as the months went on that my dad wasn't doing well.
Speaker 2: When we were home in October, this is ten months
Speaker 2: out and Eric and I are home in Pennsylvania and
Speaker 2: seeing my dad in person, he did seem worse than
Speaker 2: he had just a few months prior, and so tired,
Speaker 2: and I found that I was really worried about him.
Speaker 2: And then as Eric and I are preparing to leave.
Speaker 2: My dad pulls me aside and says, I have to
Speaker 2: talk to you about something about Mom. And in that moment,
Speaker 2: the sort of wrongness that I had been sensing around me,
Speaker 2: I could feel it coming to a head, and I
Speaker 2: felt it in my stomach like I knew that whatever
Speaker 2: came next it was going to connect these dots. I
Speaker 2: just couldn't picture what it could possibly be, except that
Speaker 2: it had to be awful. So I just waited to
Speaker 2: be told. And what he told me was it's about mom.
Speaker 2: It's about Mom's disease. It was genetic. So that's how
Speaker 2: I learned that I was at fifty to fifty risk
Speaker 2: of having inherited the mutation that causes genetic prean disease
Speaker 2: that had killed my mom.
Speaker 1: How do you respond to news like that, Sonya.
Speaker 2: Physically, what I felt was that everything was falling, and
Speaker 2: me as well, all just falling like through open space.
Speaker 2: I was sort of catapulted into a space of like
Speaker 2: eerie clarity. I remember asking my dad really specific questions,
Speaker 2: like is this mutation dominant or recessive? And he's a physician,
Speaker 2: but what he said to me in that moment was
Speaker 2: I don't know, and I don't believe that he didn't
Speaker 2: know what I believe was. He had had to push
Speaker 2: himself so hard to convey that piece of information to
Speaker 2: me that he was at his limit. So I think
Speaker 2: he was the person suffering the most, not just in
Speaker 2: that day, but in all the days since he had
Speaker 2: received this information and fretted about it and thought about
Speaker 2: how to tell me. I also, in that first moment,
Speaker 2: besides just marveling at what he had been dealing with
Speaker 2: silently alone, my mind went immediately to Eric and how
Speaker 2: this could be true for him. I felt immediately that
Speaker 2: I couldn't go to pieces because this couldn't possibly be
Speaker 2: as bad for me as it was for my dad,
Speaker 2: and as it was going to be for Eric.
Speaker 1: How and when did you tell Eric?
Speaker 2: We had to go to the airport, and somehow that
Speaker 2: still seemed important to catch our flight. So I didn't
Speaker 2: tell him before we left the house, and I didn't
Speaker 2: tell him on the road. But he knows me. It
Speaker 2: was so obvious that I was holding something really really
Speaker 2: heavy and trying to time when I was like release
Speaker 2: that information. It was just torturing him. So we got
Speaker 2: there and we got on the plane, and I told
Speaker 2: him on the plane do you remember the exact words
Speaker 2: you shared with him, like what were you able to
Speaker 2: get out? My best guess at the exact words would be,
Speaker 2: my mom's disease was genetic and I'm at risk. I
Speaker 2: remember that he cried and I held him and he
Speaker 2: said at one point, how can they do this to us?
Speaker 2: The feeling that I remember from that conversation is like
Speaker 2: the force of trying to rip a piece of paper
Speaker 2: or a piece of fabric in half with your hands.
Speaker 2: That was the feeling in my mind. There was just
Speaker 2: this unbearable feeling of our world breaking, of it being
Speaker 2: torn apart. Like I remember a flight attendant coming over
Speaker 2: and asking if we were okay, asking if Eric was okay,
Speaker 2: because we were just holding each other and crying. The
Speaker 2: plane got us home, and immediately we took the next
Speaker 2: day off work, like everything that I did felt scary,
Speaker 2: Going to sleep felt scary. That next day we called
Speaker 2: the National pren Disease Surveillance Center. We talked to people there.
Speaker 2: We were very, very set on finding a way to
Speaker 2: get tested right away.
Speaker 1: You know, you say it so straightforwardly, and it's so
Speaker 1: not obvious to me in that situation that I would
Speaker 1: have chosen to get tested or wanted someone I loved
Speaker 1: to get tested. And so I'm so curious about your
Speaker 1: psychology at the time and how it is that you
Speaker 1: and Eric came to the decision, Like was it even
Speaker 1: a point of conversation? Now?
Speaker 2: That's the interesting thing is at the time it wasn't
Speaker 2: framed up like a decision that we were making together.
Speaker 2: It was an stinct that we both had people say
Speaker 2: to me all the time. But is an ignorance bliss
Speaker 2: and I think there are scenarios in which it can be.
Speaker 2: I just think that that was not the option in
Speaker 2: front of us. We both understood. I think from that
Speaker 2: first moment that limbo for us was torture, and that
Speaker 2: this only deepened as the weeks ticked along and we
Speaker 2: were scurrying around trying to figure out how to get
Speaker 2: me tested, and it was hoop after who we were
Speaker 2: jumping through, and the limbo was getting prolonged. I would
Speaker 2: wake up every day flipping the coin in my head
Speaker 2: and it was like my mind did not have a
Speaker 2: place to rest, it could never rest.
Speaker 1: I think it is such a relatable feeling that you're describing,
Speaker 1: because living in a state of uncertainty really can feel torturous. Right.
Speaker 1: There's this one study from psychology that I love sharing
Speaker 1: and talking about, which is that people are more stressed
Speaker 1: and they're told they have a fifty percent chance of
Speaker 1: getting an electric shock than when they're told they have
Speaker 1: a one hundred percent chance, which means we'd rather be
Speaker 1: certain that a really terrible thing is going to happen
Speaker 1: than to have to manage with any feelings of uncertainty
Speaker 1: and ambiguity. And it's just wild to see the result
Speaker 1: from that small little study play out in your life.
Speaker 1: I mean, you experienced the real life version of.
Speaker 2: This, yes, exactly. I mean also on my mind was
Speaker 2: the idea that there was a fifty percent chance that
Speaker 2: I could set my dad and Eric free from having
Speaker 2: to worry about this. So that was a big thing,
Speaker 2: and I really felt not knowing was taking a huge
Speaker 2: amount of energy from me, and that if I knew
Speaker 2: one way or the other, that it would require rearrangement
Speaker 2: of the stuff in my head, but then we would
Speaker 2: reach a stable place where it wasn't a constant balancing
Speaker 2: act of weighing the fifty percent good and the fifty
Speaker 2: percent bad, and it wouldn't ambush me at surprising moments
Speaker 2: that Limbo it played games with me. I'm not a
Speaker 2: superstitious person, but I felt superstition trying to get in. Yeah,
Speaker 2: I could feel it, trying to seep through the crack,
Speaker 2: trying to look for signs and things like that. Yes,
Speaker 2: And I was like, this is not how I want
Speaker 2: to live. I don't want everything in this world to
Speaker 2: seem like some pointer at this fact that I could
Speaker 2: just choose to learn instead of guessing for the rest
Speaker 2: of my life.
Speaker 1: After the break, Sonia gets the test results. We'll be
Speaker 1: back in a moment with a slight change of plans.
Speaker 1: Sonya was twenty seven when she found out she was
Speaker 1: at risk for a fatal neurodegenerative disease, a disease that
Speaker 1: had killed her mom at fifty two. Doctors told Sonya
Speaker 1: there was a fifty to fifty chance she had inherited
Speaker 1: a mutation that causes the disease. At the time, Sonya
Speaker 1: was fresh out of law school and newly married to
Speaker 1: her husband Eric, and for her, living in Limbo was
Speaker 1: not an option, so she decided to get tested and
Speaker 1: find out if she had the mutation. If I had
Speaker 1: asked you at that moment in time. If this comes
Speaker 1: back yes, will it meaningfully change the way that you
Speaker 1: live your life moving forward? What would you have told me?
Speaker 2: You know, I had one clear vision for how it
Speaker 2: could change my life, which is that if it came
Speaker 2: back yes, I knew that Eric and I could try
Speaker 2: to jump through a bunch of fancy hoops to have
Speaker 2: kids who didn't inherit my mutation. And I think I
Speaker 2: would have said, if it comes back positive, we are
Speaker 2: going to try our darnedest to have healthy kids. What
Speaker 2: was it like to get the results. We're sitting in
Speaker 2: this procedure room where the test is going to be
Speaker 2: unveiled to me, and people are sort of coming and
Speaker 2: going and just doing their jobs as people do in
Speaker 2: that hospital environment. And a couple of people came by
Speaker 2: and they were laughing, and then they laughed, and I
Speaker 2: was like, Oh, if like someone was about to receive
Speaker 2: potentially the worst news of her life in this room,
Speaker 2: they wouldn't be laughing, which of course is not how
Speaker 2: it works. And then the doctor said to me, the
Speaker 2: same change that was found in your mother was found
Speaker 2: in you. And I had the same response to when
Speaker 2: my dad had told me I was at risk in
Speaker 2: the first place, I got very calm and I held
Speaker 2: on to Eric. It was mostly we just need more information.
Speaker 2: My mom's age of onset was fifty one, but it
Speaker 2: doesn't predict mine at all. It could basically happen any
Speaker 2: time in adulthood.
Speaker 1: Wow.
Speaker 2: I called my dad and he got on the next
Speaker 2: flight and came and spent the weekend with us. And
Speaker 2: my memory of that weekend is that we spent it
Speaker 2: sort of qietly doing normal things together, like everything hadn't
Speaker 2: sort of blown away in the wind when the test
Speaker 2: result was revealed. And I think for me, normalcy in
Speaker 2: those next few days came from holding on to the
Speaker 2: idea that nothing had acutely changed. My body hadn't changed,
Speaker 2: that information had always been there.
Speaker 1: What you said is so simple and yet so poignant
Speaker 1: and powerful, which is the recognition that while this is
Speaker 1: an earth shattering shift in one's psychology, the awareness that
Speaker 1: you are positive for this mutation, your body hadn't really
Speaker 1: changed in the minute before hearing the answer and the
Speaker 1: minute after hearing the answer.
Speaker 2: Yeah, definitely. And I remember thinking, even in those early days,
Speaker 2: like whatever the truth is, it always was, Yes, exactly,
Speaker 2: this is me. These are the terms on which I
Speaker 2: was born. This is the body that I get.
Speaker 1: But you had said something that was very interesting, which
Speaker 1: was Eric asking on the flight, how could they do
Speaker 1: this to us? And I don't know who they refers to,
Speaker 1: but was there any feeling of anger at the universe
Speaker 1: that was that this was the body you were born into.
Speaker 2: I didn't feel a great instinct to shake my fist
Speaker 2: at the universe about it, and it really surprised even me.
Speaker 2: Even in those early days, like I would say, two
Speaker 2: or three weeks after getting the test report, I was
Speaker 2: already in a much better place than when I was
Speaker 2: in the limbo.
Speaker 1: Tell me more about that, because it's not like there
Speaker 1: were a bunch of action steps you can take right
Speaker 1: for me anyway, in my brain, the reason why I
Speaker 1: value answers and definitiveness and certainty is when I feel
Speaker 1: I can act on that information. Yes, And so I
Speaker 1: am trying to figure out in just those early days
Speaker 1: and weeks where the source of comfort came from, given
Speaker 1: that there were no quote action items.
Speaker 2: Yeah, I think one source of comfort was just the
Speaker 2: amount of energy I got back from not having to
Speaker 2: manage the limbo. Got it and something that brought me comfort.
Speaker 2: It has taken me a long time to be able
Speaker 2: to articulate this. But the experience of my mom's death
Speaker 2: and her illness to me has sort of concentric circles
Speaker 2: around it. Where dying at fifty two is tragic, losing
Speaker 2: her young would have been tragic no matter what. And
Speaker 2: when I look back at all this now, I see
Speaker 2: like a primary tragedy of her dying young, and then
Speaker 2: a secondary tragedy of the ways in which it was
Speaker 2: prolonged and made more excruciating and more uncertain and more
Speaker 2: uncomfortable in every way. It brought me a certain amount
Speaker 2: of comfort to think this exact thing could happen to me.
Speaker 2: But we wouldn't be going in blind right, that secondary
Speaker 2: tragedy wouldn't have to happen.
Speaker 1: Yeah, you could end your life with dignity, You could
Speaker 1: choose things on your own terms. Right, it would be
Speaker 1: a completely different process. It's strange to say right that
Speaker 1: that was a source of comfort, but really it was.
Speaker 1: You made a remarkably unusual pivot, I mean, with you
Speaker 1: and your husband. And to set the scene for listeners,
Speaker 1: at the time, you were a recent law school graduate.
Speaker 1: Your husband was a transportation engineer, and yeah, then you
Speaker 1: guys had your next slight change of plans, do you
Speaker 1: mind just so you bring me on this world wind
Speaker 1: journey of what happened next.
Speaker 2: There was like a pivotal event, which is two weeks
Speaker 2: after I got my netic test report, a friend shows
Speaker 2: up with a thumb drive and he says, people are
Speaker 2: working on this, like, you guys need to take a
Speaker 2: look at these articles. Inwardly, my feeling was, hey, man, like,
Speaker 2: we're still grieving. That's not the page we're on. But
Speaker 2: he left the thumb drive at our house and it
Speaker 2: was only a few days later that we were curious
Speaker 2: enough to open it up, and just seeing that he
Speaker 2: had managed to put together it was probably eight or
Speaker 2: ten articles about drug development for preon disease changed things
Speaker 2: for me because my mom's experience it had really convinced
Speaker 2: me that no one knows anything about this, it is
Speaker 2: so rare. But I realized that behind the scenes, there
Speaker 2: were people who actually cared a lot about this specific
Speaker 2: rare disease and knew a lot and cared enough to
Speaker 2: try to develop drugs.
Speaker 1: And so what did that lead you to?
Speaker 2: About a month after getting my test report, ended up
Speaker 2: quitting my job, thinking I'm taking a step back, because
Speaker 2: I need to right now to sort of sort out
Speaker 2: this piece of my life. I need to spend some
Speaker 2: time building a vocabulary so that I can advocate for
Speaker 2: myself in this space. I would walk into classes at MIT,
Speaker 2: which like fortuitously was like down the street from our apartment,
Speaker 2: and I'd go up to the professor and say, here's
Speaker 2: my deal. Can I sit in? And no one ever
Speaker 2: said no.
Speaker 1: And these were like biomedical classes biology, Like what were
Speaker 1: these classes?
Speaker 2: Yes, So it was everything from cell biology to biochemistry
Speaker 2: to there was like a class called protein misfolding and disease.
Speaker 2: I was all in. I had the energy for it.
Speaker 2: I would come home just like bursting to tell Eric
Speaker 2: about all of it. And it was only a few
Speaker 2: months before he was saying, hey, like this feels right
Speaker 2: and I don't want to get left behind. I think
Speaker 2: we suddenly felt emboldened to dream bigger. And the thing
Speaker 2: we ended up deciding was there's enough science. There's enough
Speaker 2: that's known for us to stand on top of that
Speaker 2: and try to reach for a therapy in an informed way.
Speaker 2: And that is the thing that's missing, So that needs
Speaker 2: to be us. Yeah, we took this big gamble and
Speaker 2: we enrolled in a PhD program, hoping that we could
Speaker 2: find a place, a lab that would support us to
Speaker 2: chase our mission while being students, and we got extremely lucky.
Speaker 2: We did our PhD work under some really unbelievably supportive mentors,
Speaker 2: and we got our PhDs in twenty nineteen and we
Speaker 2: have been leading our own independent preon research group ever since.
Speaker 1: So, Sonia, first, I want to just take a moment
Speaker 1: to appreciate how extraordinary it is that you and Eric
Speaker 1: have made this pivot. It's so inspiring to me the
Speaker 1: way that you found agency in a world where you
Speaker 1: were given so little, and then also just like get
Speaker 1: science PhDs out of the blue, like you don't even
Speaker 1: have I'm assuming you didn't have science backgrounds. I mean,
Speaker 1: it's just been snow. Yes, it's just extraordinary. Can you
Speaker 1: tell me a bit about the progress that you've made
Speaker 1: and what it is like for you and your partner
Speaker 1: to be fighting for your life in the work that
Speaker 1: you do day to day. I mean it's fairly unusual
Speaker 1: for someone's work to truly be their life.
Speaker 2: Yes, I mean, when I look back, I have to
Speaker 2: say that I think we've been extraordinarily fortunate to have
Speaker 2: made the progress that we've made for us. That's enhanced
Speaker 2: by the feeling that we're racing against a clock that
Speaker 2: we can't see. We have no idea when I'll have onset,
Speaker 2: and that is just a property of genetic preon disease.
Speaker 2: Drug development is so much more complex and undertaking than
Speaker 2: I ever could have pictured from the outside. It is massively,
Speaker 2: massively difficult. I think that at this moment we have
Speaker 2: hope around having the right ideas and the right tools
Speaker 2: that exist on earth to do the job. And in
Speaker 2: some ways, the closer we get, the more jeopardy I
Speaker 2: feel there is, because in the beginning we had nothing
Speaker 2: to lose, but now we actually have prospects for useful drugs.
Speaker 2: And I am more heartbroken now by the people who
Speaker 2: write to me and say my loved one is dying today,
Speaker 2: because I feel that we are close, and the closer
Speaker 2: we get, the harder it's going to be. So, you know,
Speaker 2: to bring listeners up to speak with your current day life.
Speaker 2: You and Eric did move forward with having children. Their
Speaker 2: embryos were genetically screened. You stop the transmission of PREANMPT
Speaker 2: disease in both your children. I can imagine in any
Speaker 2: given day, thinking, do I spend more time in the
Speaker 2: lab because we might be on the cusp of a
Speaker 2: really valuable therapeutic, or do I go home and spend
Speaker 2: the rest of the day with my kids because I
Speaker 2: don't know how much time I have left, Like it
Speaker 2: would just it introduces attention that it's very challenging, and
Speaker 2: I'm sure there are people listening right now who face
Speaker 2: some variant of this tension in their day to day lives. Sure,
Speaker 2: parenthood became this new dimension of our life. I think
Speaker 2: in some ways it has been very healthy for us
Speaker 2: to have something outside of work that is in its
Speaker 2: own way, so complex, so demanding, so totally immersive, because
Speaker 2: I think for our personality types, we couldn't step out
Speaker 2: of the intensity of work and then just kick back,
Speaker 2: right like I think, you can't just subtract. You need
Speaker 2: to substitute in a way with something that is equally gripping,
Speaker 2: and that's certainly what parenthood has been for us. I
Speaker 2: find that they just bring out a different dimension of
Speaker 2: what a liveness is for me. I really think of
Speaker 2: my relationship with my kids as being something that's happening
Speaker 2: now and that is not at all to sort of
Speaker 2: morbidly say, oh my god, I might not be here
Speaker 2: next year. Although that's very much the case, It's not
Speaker 2: so much the negative valance of like I might miss
Speaker 2: all this stuff, so much as the positive valance of
Speaker 2: anything could happen. Tremendous Uncertainty just is the nature of
Speaker 2: our world, and we have each other right now. When
Speaker 2: I think about myself dying young, which I certainly could,
Speaker 2: I would fear, I think more than just that tragedy
Speaker 2: is Eric and the kids sort of taking on that
Speaker 2: mantle and self conceptualizing as a tragic family. I want
Speaker 2: them to all take satisfaction that we put our love
Speaker 2: in action and we did everything we could, and that
Speaker 2: Mama and Baba are doing science to try to develop
Speaker 2: a treatment for this rare disease.
Speaker 1: You told me in the beginning of our conversation, Sonya,
Speaker 1: that you have that allergy towards uncertainty, right, and that's
Speaker 1: one of the reasons why you were so eager to
Speaker 1: figure out if you are positive or negative for this mutation.
Speaker 1: And I'm curious to know how your relationship with uncertainty
Speaker 1: has evolved and what your relationship with control is like today.
Speaker 2: Finding a route through which I could take some agency
Speaker 2: in those early days of having my diagnosis made a huge,
Speaker 2: huge difference, And I think at a certain point, you
Speaker 2: push absolutely as hard as you can, and then you
Speaker 2: take satisfaction in the fact that you pushed as hard
Speaker 2: as you could. And I think in terms of like, gosh,
Speaker 2: not to be melodramatic, but like avenging my mom's death.
Speaker 2: I feel like we've done her proud. It's just within
Speaker 2: the past few years that I have started to feel
Speaker 2: a sense of like the piece on the other side
Speaker 2: of all of that scrambling. I really think that we
Speaker 2: are at the turning point where we see preon disease
Speaker 2: in the middle distance as a treatable and preventable disease.
Speaker 2: We have been part of turning the tide on this thing.
Speaker 2: Whether it gets done in time for me, I would
Speaker 2: love for it too, but I also have come to
Speaker 2: believe that I need to get my satisfaction from what
Speaker 2: we're doing now.
Speaker 1: Hey, thanks so much for listening. If you enjoyed my
Speaker 1: conversation with Sonia, you may enjoy my chat with neuroscientists
Speaker 1: David Lindon. Will include a link to the episode in
Speaker 1: the show notes. It's called a neuroscientist curious approach to dying.
Speaker 1: Enjoy me next week when I talk to psychologist Hal
Speaker 1: Hirschfield about the emotional connection we have to our future
Speaker 1: selves and the benefit of strengthening that connection. See you
Speaker 1: next week. A Slight Change of Plans is created, written,
Speaker 1: and executive produced by me Maya Shunker. The Slight Change
Speaker 1: family includes our showrunner Tyler Green, our senior editor Kate
Speaker 1: Parkinson Morgan, our producer Trisha Bobita, and our sound engineer
Speaker 1: Andrew Vestola. Luis Scara wrote our delightful theme song, and
Speaker 1: Ginger Smith helped arrange the vocals. A Slight Change of
Speaker 1: Plans is a production of Pushkin Industries, so big thanks
Speaker 1: to everyone there, and of course a very special thanks
Speaker 1: to Jimmy Lee. You can follow A Slight Change of
Speaker 1: Plans on Instagram at doctor Maya Shunker. See you next week.