November 20, 2023 • 35 mins
Sonia Vallabh had just lost her mother to a rapid, mysterious brain disease. And then, she found out that the disease was genetic. Doctors told her there was a 50-50 chance she had inherited the same rare genetic mutation that killed her mom. Sonia tells Maya how she managed a torturous state of limbo, and how what followed led her to the cutting edge of science.
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Episode Transcript
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Speaker 1 (00:14):
Pushkin.
Speaker 2 (00:30):
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.
Speaker 1 (00:44):
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.
Speaker 2 (01:00):
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.
Speaker 1 (01:18):
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
(01:45):
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
(02:07):
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.
Speaker 2 (02:18):
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,
(02:41):
I felt a real heaviness that something was really wrong.
So it was incredibly scary.
Speaker 1 (02:48):
How did things progress from there on out?
Speaker 2 (02:51):
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
(03:12):
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
(03:34):
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
(03:56):
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
(04:20):
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
(04:41):
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?
Speaker 1 (04:56):
What were doctors saying at this point? Was there any
explanation for the constellation of symptoms that she had.
Speaker 2 (05:03):
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
(05:24):
so we would know. I do think that the total
mystery is part of the great strain of a time
like that.
Speaker 1 (05:32):
So how long did this state last for with your mom?
Speaker 2 (05:36):
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
(05:56):
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
(06:18):
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.
Speaker 1 (06:39):
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.
Speaker 2 (06:51):
For me and my dad in particular, I think we
both felt that it was almost too excruciating to stand.
Speaker 1 (06:59):
Yeah, did you, at any point along the way get
an answer about what afflicted your mom?
Speaker 2 (07:08):
In December, a spinal fluid test came back that gave
the doctors enough confidence to say we have a possible
diagnosis of preon disease.
Speaker 1 (07:19):
Do you mind sharing a bit more about what preon
disease is and what kind of impact it has.
Speaker 2 (07:25):
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
(07:46):
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.
(08:07):
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
(08:29):
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
(08:55):
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.
Speaker 1 (09:17):
So what did the aftermath look like for you and
your family after your mom passed?
Speaker 2 (09:22):
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
(09:44):
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
(10:07):
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
(10:30):
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
(10:51):
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.
Speaker 1 (11:05):
How do you respond to news like that, Sonya.
Speaker 2 (11:09):
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,
(11:32):
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
(11:55):
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
(12:18):
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.
Speaker 1 (12:41):
How and when did you tell Eric?
Speaker 2 (12:46):
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
(13:09):
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
(13:31):
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.
(13:53):
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
(14:15):
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
(14:37):
get tested right away.
Speaker 1 (14:40):
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
(15:00):
a point of conversation? Now?
Speaker 2 (15:02):
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
(15:25):
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
(15:47):
and it was like my mind did not have a
place to rest, it could never rest.
Speaker 1 (15:53):
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
(16:13):
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.
Speaker 2 (16:32):
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
(16:53):
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
(17:14):
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
(17:34):
of my life.
Speaker 1 (17:36):
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
(17:59):
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
(18:20):
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?
Speaker 2 (18:36):
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
(18:57):
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
(19:18):
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
(19:39):
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.
Speaker 1 (19:55):
Wow.
Speaker 2 (19:55):
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
(20:19):
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.
Speaker 1 (20:30):
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
(20:51):
minute after hearing the answer.
Speaker 2 (20:54):
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.
Speaker 1 (21:08):
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.
Speaker 2 (21:23):
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
(21:45):
in the limbo.
Speaker 1 (21:47):
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
(22:09):
that there were no quote action items.
Speaker 2 (22:12):
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
(22:34):
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
(22:59):
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.
Speaker 1 (23:20):
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
(23:40):
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
(24:01):
journey of what happened next.
Speaker 2 (24:03):
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
(24:25):
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
(24:50):
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.
Speaker 1 (25:09):
And so what did that lead you to?
Speaker 2 (25:11):
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,
(25:32):
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.
Speaker 1 (25:41):
And these were like biomedical classes biology, Like what were
these classes?
Speaker 2 (25:45):
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
(26:10):
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
(26:31):
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,
(26:57):
and we got our PhDs in twenty nineteen and we
have been leading our own independent preon research group ever since.
Speaker 1 (27:07):
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,
(27:28):
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.
Speaker 2 (27:49):
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,
(28:09):
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
(28:32):
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
(28:54):
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
(29:17):
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
(29:38):
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
(30:02):
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
(30:24):
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
(30:47):
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,
(31:09):
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
(31:31):
Mama and Baba are doing science to try to develop
a treatment for this rare disease.
Speaker 1 (31:38):
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.
Speaker 2 (31:57):
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
(32:19):
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
(32:41):
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
(33:06):
we're doing now.
Speaker 1 (33:34):
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
(33:55):
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
(34:17):
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
(34:37):
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.
Pushkin.
Speaker 2 (00:30):
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.
Speaker 1 (00:44):
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.
Speaker 2 (01:00):
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.
Speaker 1 (01:18):
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
(01:45):
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
(02:07):
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.
Speaker 2 (02:18):
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,
(02:41):
I felt a real heaviness that something was really wrong.
So it was incredibly scary.
Speaker 1 (02:48):
How did things progress from there on out?
Speaker 2 (02:51):
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
(03:12):
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
(03:34):
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
(03:56):
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
(04:20):
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
(04:41):
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?
Speaker 1 (04:56):
What were doctors saying at this point? Was there any
explanation for the constellation of symptoms that she had.
Speaker 2 (05:03):
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
(05:24):
so we would know. I do think that the total
mystery is part of the great strain of a time
like that.
Speaker 1 (05:32):
So how long did this state last for with your mom?
Speaker 2 (05:36):
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
(05:56):
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
(06:18):
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.
Speaker 1 (06:39):
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.
Speaker 2 (06:51):
For me and my dad in particular, I think we
both felt that it was almost too excruciating to stand.
Speaker 1 (06:59):
Yeah, did you, at any point along the way get
an answer about what afflicted your mom?
Speaker 2 (07:08):
In December, a spinal fluid test came back that gave
the doctors enough confidence to say we have a possible
diagnosis of preon disease.
Speaker 1 (07:19):
Do you mind sharing a bit more about what preon
disease is and what kind of impact it has.
Speaker 2 (07:25):
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
(07:46):
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.
(08:07):
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
(08:29):
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
(08:55):
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.
Speaker 1 (09:17):
So what did the aftermath look like for you and
your family after your mom passed?
Speaker 2 (09:22):
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
(09:44):
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
(10:07):
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
(10:30):
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
(10:51):
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.
Speaker 1 (11:05):
How do you respond to news like that, Sonya.
Speaker 2 (11:09):
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,
(11:32):
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
(11:55):
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
(12:18):
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.
Speaker 1 (12:41):
How and when did you tell Eric?
Speaker 2 (12:46):
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
(13:09):
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
(13:31):
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.
(13:53):
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
(14:15):
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
(14:37):
get tested right away.
Speaker 1 (14:40):
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
(15:00):
a point of conversation? Now?
Speaker 2 (15:02):
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
(15:25):
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
(15:47):
and it was like my mind did not have a
place to rest, it could never rest.
Speaker 1 (15:53):
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
(16:13):
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.
Speaker 2 (16:32):
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
(16:53):
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
(17:14):
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
(17:34):
of my life.
Speaker 1 (17:36):
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
(17:59):
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
(18:20):
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?
Speaker 2 (18:36):
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
(18:57):
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
(19:18):
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
(19:39):
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.
Speaker 1 (19:55):
Wow.
Speaker 2 (19:55):
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
(20:19):
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.
Speaker 1 (20:30):
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
(20:51):
minute after hearing the answer.
Speaker 2 (20:54):
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.
Speaker 1 (21:08):
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.
Speaker 2 (21:23):
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
(21:45):
in the limbo.
Speaker 1 (21:47):
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
(22:09):
that there were no quote action items.
Speaker 2 (22:12):
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
(22:34):
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
(22:59):
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.
Speaker 1 (23:20):
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
(23:40):
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
(24:01):
journey of what happened next.
Speaker 2 (24:03):
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
(24:25):
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
(24:50):
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.
Speaker 1 (25:09):
And so what did that lead you to?
Speaker 2 (25:11):
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,
(25:32):
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.
Speaker 1 (25:41):
And these were like biomedical classes biology, Like what were
these classes?
Speaker 2 (25:45):
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
(26:10):
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
(26:31):
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,
(26:57):
and we got our PhDs in twenty nineteen and we
have been leading our own independent preon research group ever since.
Speaker 1 (27:07):
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,
(27:28):
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.
Speaker 2 (27:49):
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,
(28:09):
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
(28:32):
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
(28:54):
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
(29:17):
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
(29:38):
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
(30:02):
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
(30:24):
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
(30:47):
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,
(31:09):
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
(31:31):
Mama and Baba are doing science to try to develop
a treatment for this rare disease.
Speaker 1 (31:38):
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.
Speaker 2 (31:57):
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
(32:19):
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
(32:41):
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
(33:06):
we're doing now.
Speaker 1 (33:34):
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
(33:55):
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
(34:17):
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
(34:37):
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.
Host
Dr. Maya Shankar
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