April 21, 2025 • 40 mins
Today, approximately 10,000 rare diseases collectively affect as many as 400 million people around the world, and women leaders have long been at the forefront of bringing awareness to these diseases and driving change. Katie Couric moderates a panel that includes Tania Simoncelli of Chan Zuckerberg Initiative, whose “Rare as One” campaign gives to rare disease researchers and support groups, Tara Zier who founded the Stiff Person Syndrome Research Foundation, Susan Dando of the Smith-Kingsmore Syndrome Foundation, and Dr. Christina Miyake, a researcher studying TANGO2 deficiency disorder. This panel will explore the resilience, determination, and ingenuity required to address the unique challenges in rare disease advocacy and research. Panelists will share their experiences in breaking barriers, leading patient-centered initiatives, and building collaborations that move the needle toward treatments and cures. #SponsoredbyCZI
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Speaker 1 (00:00):
What if we told you it was possible to prevent, manage,
or cure all disease by the end of the century. Well,
the chand Zuckerberg Initiative is on an ambitious mission to
make that a reality. Go to CZI dot com or
follow them on social media to learn more about how
they're building a better future for everyone.
Speaker 2 (00:27):
Hi.
Speaker 1 (00:27):
Everyone, I'm Kitty Kuric, and this is next question. Approximately
ten thousand rare diseases affect as many as four hundred
million people around the world, and women leaders have been
truly at the forefront of bringing awareness and driving change. Today,
(00:48):
we have a privilege, the privilege to talk with four
of these women about the unique challenges in rare diseases
and patient advocacy and research and how they're resilt alliance
and ingenuity has really moved the needle toward treatments and cures.
I'm always excited to be here with my friend Tanya Simachelli. Tanya,
(01:11):
we've been here. This is our third year at the
She Media Tent, so she may be a film familiar
face to some of you. Tanya joined CZI the Chan
Zuckerberg Initiative in twenty seventeen and launched rare as one
two years later. Prior to that, she has over twenty
eight years of experience in science, policy and advocacy. Meanwhile,
(01:33):
I'm not doing this in order necessarily. Tara Zier, who
is at the end there, is the founder and president
of the Stiff Person Syndrome Research Foundation. Tara was diagnosed
with Stiff Person syndrome in twenty seventeen, so she's here
to talk about her experience as both a patient and
an advocate. Doctor Christina Miyaki is next to Tara. She's
(01:56):
the director of the Genetics Arrhythmia Program, an Associate professor
at the Baylor College of Medicine, and collaborates with patient
organizations to study these conditions and help search for treatments
and cures. She knows firsthand the value of patient centered research.
And finally, Susan Dando, the executive director of the Smith
(02:18):
Kingsmore Syndrome Foundation. She joined the foundation in twenty twenty two,
shortly after her daughter was diagnosed with this disease. Nothing
excites me more than talking to really smart, kick ass women.
So needlanden to say, I am in hog Heaven right now.
Speaker 2 (02:37):
Give them around of applause.
Speaker 1 (02:42):
It's a real privilege to be here with all of you,
and Tanya, let me start with you. I am always
struck by this statistic that there are over ten thousand
rare diseases impacting four hundred million people across the globe.
Tell us a little bit about why you created the
rare as one and how it supports patient communities and
(03:03):
accelerates why do I feel like I'm kind of looking backwards,
I don't know or yeah shares no, I'm good, Now
you're good, and how it supports these communities and accelerates research.
Speaker 3 (03:15):
Thanks so much, Katie, it's so great to be here
with you again and with this amazing panel. So I
think really three things that really inspired the rare As
one project. The first is just the extraordinary unmet need
in the space, as you mentioned the four hundred million
people who are impacted around the globe, but also the
fact that there are fewer than fewer than five percent
(03:37):
of these diseases have any FDA approved therapies, so there's
just an unbelievable gap there. Secondly, while these diseases are
really understudied, they're incredibly important scientifically, so you know, the
vast majority of these diseases are actually caused by genetic
(03:59):
changes in single genes and as opposed to common conditions
that are often caused by tens, if not hundreds, of
different genes interacting with one another.
Speaker 2 (04:09):
So when you study these rare.
Speaker 3 (04:11):
Monogenetic diseases, you have this incredible window into human biology,
and if we can understand the function of these genes
and what's actually happening in people with these diseases, it
can often leads to insights into how we can also
treat common diseases, so they're really really important. And then
the third reason is actually really about sort of the
evolution of patient advocacy. So in the last twenty years,
(04:34):
we've seen this incredible proliferation of patient led rare disease
organizations like some of the ones that you just saw
in the film, who are really going beyond sort of
the more traditional advocacy work of disease awareness and just
raising general funds for their disease and actually driving the
(04:55):
research forward, like NASA Fitter says in the video. And
they're doing this by building really strong communities but then
really actively engaging researchers and clinicians in their disease areas
and actually going about the work of building you know,
clinical registries and biobanks and all these assets that are
needed to study their diseases. They're recognizing that no one
(05:18):
is going to do that for them. The incentives aren't there, right,
And so so that's really the third reason that there's
been this like extraordinary growth of these organizations. Some of
them are kicking ass, yeah, and doing this incredible work,
but there are no there were no major funders in
this space that were providing consistent sources and resources to
(05:40):
these organizations. And so I really said, you know, we
need to build a program that really supports these organizations
in this work if we're serious about, you know, our mission,
which is to cure, prevenor manage all diseases.
Speaker 1 (05:52):
Yeah, and I feel like nobody is more passionate and
committed and driven than someone who has firsthand experience with
the disease. I know I felt that way when my
husband died of colon cancer. I felt like I have
got to do something about it. And then people with
living disease, living with disease, you know, they are so
(06:13):
highly motivated and Tara, and you know, I wanted to
ask you about stiff person syndrome because it's a rare
autoimmune neurological disorder that affects only four to five people
in a million. And now you run the Stiff Person
Syndrome Research Foundation. Tell us a little bit about your story,
because when I read it Tara, I thought, oh my god,
(06:35):
this woman has been through hell and she's still standing
and she's still fighting and doing something about it.
Speaker 4 (06:43):
Sure, Katie, First, thanks for having me. I'm so excited
to be here. I really appreciate the opportunity, and I'm
happy to share about stiff person syndrome. I want to
speak to the name. The name does not do this
disease justice. It's disabled. People can have muscle spasms so
severe they break bones, dislocate joints, and result in life
(07:06):
threatening breathing problems.
Speaker 2 (07:09):
People are just stiff.
Speaker 4 (07:10):
So it's a little bit tough to people understand.
Speaker 2 (07:15):
Well, we thought about that in the beginning.
Speaker 4 (07:16):
Do we try to change the name or do we
just go after your better treatments? And I thought it
would be best to just go after better treatments.
Speaker 2 (07:24):
Yeah.
Speaker 4 (07:25):
So, my gosh, I had a very agonizing diagnostic odyssey,
which is not uncommon with rare diseases. Unfortunately, it took
me almost three years to get diagnosed. In twenty fourteen,
my former husband died by suicide.
Speaker 2 (07:43):
My kids were eleven and thirteen.
Speaker 4 (07:45):
At the time, and the stress and pressure I felt
to stay alive was unimaginable.
Speaker 2 (07:54):
Two months later.
Speaker 4 (07:55):
I was hospitalized with pneumonia, and then my health spiraled down,
and over three years I was experiencing really oddball frightening symptoms.
I was going from doctor to doctor in crisis mode,
knowing something was seriously wrong and trying to find answers.
I was mismanaged, mislabeled, told it was all in my head.
(08:19):
At one appointment with my primary care doctor, he told
me kind of leaned into me and he said, I
don't know why you're going from doctor to doctor. Take
this medication for anxiety and see me back in three months.
Speaker 2 (08:35):
And like, I'm.
Speaker 4 (08:36):
Professional, but I'm also not going to put up with that.
And I said, you know, I appreciate that, but if
you were in my shoes, you would be doing the
same thing.
Speaker 1 (08:45):
And another doctor said, this is stress, and you said, yes,
I'm stressed, but I'm also sick.
Speaker 2 (08:52):
Absolutely absolutely.
Speaker 4 (08:55):
It got to the point in twenty seventeen, in March
I lost thirty in a month. Every day I was
standing on the scale and I was dropping. I was dropping.
I was dropping. I thought I was going to die.
I couldn't work. I was a dentist. I couldn't work anymore.
I couldn't drive, I couldn't take care of myself. I
couldn't take care of my kids. I had to hire
(09:16):
someone to live with us.
Speaker 1 (09:18):
And so hard for your kids, I know, because they
had just lost their dad.
Speaker 4 (09:22):
And I couldn't control it, and that seeing them so
stressed and not having control over that was horrible. And
I finally connected to the right doctors. I found a
wonderful primary care doctor who listened to me, who dismissed
the labels and referred me to a local neurologist where
(09:44):
I was diagnosed. He read the right tests, and I
landed at Johns Hopkins for my treatment. And it was
probably my third visit at Hopkins when my neurologists told
me that they had recently applied for a grant for
research at NIH and they were denied the grant because
there wasn't enough research to support.
Speaker 2 (10:05):
Getting the grant right and you know, chicken her egg
right like, and that just blew my mind.
Speaker 4 (10:12):
I'm like, if Hopkins can't get a grant, that's a
big problem.
Speaker 2 (10:16):
And you know, here I was.
Speaker 4 (10:18):
I remember just sitting there like sideways, you know, looking
at him, and I was, you know, in debilitating pain,
no good treatments, no cure, single mother. And it was
that moment where I knew I needed to do something.
Speaker 2 (10:34):
And two weeks later we were on.
Speaker 4 (10:36):
The news raising awareness, and then I knew we needed
to raise funds for research. So I started the Stiff
Person Syndrome Research Foundation and the latter part of twenty
nineteen with two main drivers, one to support research for
better treatments and a cure, and two to show my
children that no matter what hand your dealt in life,
(10:57):
you can still make a difference for people. That's what
gets me out in Dada.
Speaker 1 (11:05):
And of course Seline Dion, when I think that was
well publicized, got the disease a lot of attention, which
was probably helpful.
Speaker 4 (11:13):
Absolutely so grateful for her. That was like worldwide awareness
in a.
Speaker 1 (11:17):
Day, rightly educated so many people very quickly. And Susan,
your daughter Carmen was diagnosed with something called Smith Kingsmore
syndrome or SKS when she was nine years old. Can
you tell me how she about this disease and how
she was ultimately diagnosed.
Speaker 5 (11:37):
Yes, so we also had a diagnostic odyssey. Carmen was
diagnosed as autistic at four and had a lot of
the things that are relatively common in autism. She doesn't
speak very much. Most you to say, go away, mummy,
no thanks mummy. She has a sort of motown's struggles
to learn. But the big thing for us is that
(12:00):
she doesn't sleep, and by not sleeping, it's like she
really doesn't sleep. We would put her to bed at
seven thirty, she'd get to sleep at ten thirty. She
would wake up at one am and be awake, wake
up the whole house, destroy things. The more we tried
to get her to bed, the more violent she became.
She would hurt herself and hurt us. She would pass
out again at three am, wake up again at four
(12:21):
thirty am, and it would start again.
Speaker 2 (12:24):
So this happened.
Speaker 5 (12:26):
We would talk to the doctors and say, this is
what's happening in our house, and they would say, well,
you know, it's fairly common for artistic kids to not
sleep very much.
Speaker 2 (12:36):
Is she napping during the day? And I would say no,
and they.
Speaker 5 (12:40):
Said, well, you know, if she's not napping, she's probably
getting enough sleep. It's just part of who she is,
and she'll be okay. And I'm like, we're not okay.
I'm living with a living with a newborn, barely able
to function. My two other daughters are going to school
sleep deprived. But we really struggled to push back on
(13:02):
doctors with that. We almost became so tired it wasn't
worth the fight, but you know, we'd start reading. I
finally pushed for full genetic testing and we were sitting
with a genetic counselor and they said, well, she's actually
got this rare genetic syndrome was by a mutation to
the m tour gene called Smith Kingsmore syndrome. There's no treatments,
(13:24):
no cure, there's really not nothing you can do.
Speaker 2 (13:26):
There is people, there's around three hundred and.
Speaker 5 (13:30):
Fifty people worldwide that we know of, but they're like,
there is this foundation, the SKS Foundation. You probably should
look them up and so and we'll see you in
a year. So we went and looked them up, and
then everything made sense. There are these people all over
the world with sleep disorders, intellectual disability, limited communication and
(13:51):
we found our people and we found some hope.
Speaker 1 (13:54):
When you hear these stories, Tanya, and how do you
connect the rarest One Initiative with people like this who
are desperate to try to find answers? And Christine, I'm
going to talk about your side of this as a
researcher and scientists, But what kind of infrastructure do you
(14:15):
provide that gives people some hope, connection and then they
can actually dream about the future? Yees.
Speaker 3 (14:24):
So the heart of our program is actually our rare
is One network and to date we've actually funded nearly
one hundred patient led organizations advising like Susan's in Paris,
including Susan's and Terras, across multiple cycles, and we're not
just providing them with funding, but we're also building out
(14:48):
a whole capacity building program and helping them to build
their organizational capacity as you just heard, like neither Tara
nor Susan came to this by training right or on
purpose right and also scientific capacity building really helping them
do things like how do you build a scientific advisory
board for your organization, how do you work with researchers,
(15:09):
how do you work with industry to develop treatments like
so all of that we've packaged, and actually I should
point out Heidi and Andrew in the front row who
actually run the Rares one network and all the capacity
building for the program. And importantly we give them opportunities
to collaborate with one another, and I.
Speaker 1 (15:27):
Mean it despite like maybe different diseases, but trying to
strategize and navigate the system. So I imagine that that's
been very helpful to you too, Susan and Terat, to
just know each other and try to navigate things. And
I imagine that rare is one for both of you
and for so many of these people who are struggling.
(15:50):
It's a godsend, isn't it.
Speaker 2 (15:52):
Absolutely it is a game changer.
Speaker 1 (15:56):
I wanted to ask Christina about her role because doctor Miaki,
you're coming at this from a clinical research perspective, and
doctor Miaki told me I could call her Christine. I'm
not being disrespectful. Tell us about the research you're doing
with something called Tango to deficiency disorder and what that is.
Speaker 6 (16:16):
Thanks so much, Katie. It's really an honor to be
up here today with all of you. So I came
to work with Tango too because I'm a pediatric genetic electrophysiologist,
And that's just a fancy way of saying I'm a
heart doctor and I work with families who have conditions
that run in families that can lead to a cardiac
arrest or set in death. And as a background, every year,
(16:39):
approximately twenty three thousand children have a cardiac arrest and
of those over ninety percent don't survive, and of those
that survive, fifty percent don't get an answer. And so
that's what I do. I've dedicated my career and my
research to finding answers for these families and giving them
that diagnosis. One of them is tango tooths and so
(17:04):
working with these families, I've been able and through support
with the CZI, it's allowed me to identify a treatment
and you'll see some of the symptoms.
Speaker 1 (17:14):
Yeah, we have a video actually about tango iiO that
we can watch and you can talk about at the
same time.
Speaker 6 (17:22):
It's a rare disease that affects eight thousand and these
are some of the symptoms. Balance falling over, severe with
weakness and inability to get up, speech difficulties and cognitive delays,
difficulty walking to the point it progresses till you're in
a wheelchair and you can't speak. Two parents, Mike and
Kasha More started the foundation and in twenty nineteen I
(17:44):
began interviewing patients around the world and through this natural
history study, I identified that B vitamins prevent cardiac arrest
and some of the symptoms. So this is Phoebe. You
can see some of the symptoms, but children were dying
cardiac arrest and it had a high mortality rate. In
twenty twenty three, Phoebe was finally diagnosed and started on
(18:07):
B vitamins and you can see the difference within two weeks.
So she is now walking, she's got she can talk better,
she's got more energy, and she's a normal kid. And
it is through the B vitamins.
Speaker 2 (18:22):
No child since has died.
Speaker 6 (18:25):
And it's through funding through foundations like CZI that allow
us as physicians to work with organizations to find the
answers that ultimately are going to help the patient.
Speaker 1 (18:40):
What if we told you it was possible to prevent, manage,
your cure all disease by the end of the century.
The Chans Zuckerberg Initiative is advancing biomedical research and leveraging
AI to change medicine for decades to come. By bringing
together science, tech, researchers, and engineers, they're building a better
future for everyone. Learn more at CZI dot com that's
(19:04):
CZI dot com or follow them on social media. How
critical is it for you as a scientist to actually
interface with the patient population, because I would think that
(19:25):
would be a no brainer. I don't know how scientists
did it without having that kind of exposure before.
Speaker 6 (19:32):
I think that's what we need to change, and I
think that's what CZI is promoting and doing and funding.
We can't do what we do without the patients, without
these amazing mothers. They're so motivated to find answers. It's
only through collaborative and partnerships that we're going to push
rare disease discovery.
Speaker 1 (19:52):
It seems crazy to me, it's just be vitamins. Did
you discover that, Christina? Yeah, I would say that's amazing
by the way. I mean, it's something something so simple
and accessible can be so life changing for those kids.
Speaker 6 (20:09):
And I think it's as simple as paying attention to
the parents, listening to them, and then really taking that
into the science to find those answers that it really
starts at the patient.
Speaker 1 (20:22):
I'm just curious as women who are impacted by these diseases,
both as patients and as caregivers, Can you describe the
impact of these diagnoses on your lives and the disproportionate
impact they have on mothers?
Speaker 2 (20:45):
Sure?
Speaker 6 (20:45):
I gosh.
Speaker 4 (20:49):
For me personally, I think, at least to now, the
greatest impact was daring that diagnosse stick odyssey phase. I
was in the er.
Speaker 2 (21:05):
I went to the er thirteen times, and.
Speaker 4 (21:09):
My kids were witnessing that, and that was brutal, Like
I had to make a decision when I felt something
life threatening, I felt those symptoms, Do I risk dying
or do I traumatize my kids and call nine one wine?
And it was to the point where after the seventh
(21:30):
eighth time, I would call nine one Wine and I
would say, listen, I know this sounds crazy, but can
you not turn the sirens on when you come up
to the house Because my son told me later, Mommy,
every time I hear sirens, I feel really upset because
I think they're coming for you.
Speaker 1 (21:47):
You also fit faced. I think TIRA the quintessential problem
that so many women face in the medical system, which
is relaxed or you know you're stress. Here's a pill
for anxiety. It's all in your head. Don't be hysterical.
And I think for many women, they're intimidated and embarrassed,
(22:10):
and they're made to feel shame for fighting their doctors
or being aggressive or going to another doctor. And so
I think as a mother, obviously your kids were worried
about you, but as just a woman, you faced a
lot of discrimination in the healthcare system.
Speaker 4 (22:32):
Yeah, it's real, and people will tell you it's real.
I sat on a plane beside a cardiologist and we
happened to start talking and he's like, Tara, you know
it's real.
Speaker 2 (22:41):
And I'm like, I know it's real.
Speaker 4 (22:44):
So you know, it's one of those things too, where
I was on a call with an eer physician. It's like, well,
how do you show up, you know, as a woman,
and there's some you know, some bias there, and it's like, okay,
well don't be super emotional, Okay, well be professional.
Speaker 2 (23:02):
It's like it's.
Speaker 4 (23:03):
Difficult, right because I show up and I could tell you, Katie,
like I have a pain.
Speaker 2 (23:08):
Level of nine and I'm not crying, and.
Speaker 4 (23:11):
You know, it's really difficult to navigate. And I think
the key is you just have to push, You have
to do whatever it requires. I was showing up in
doctor's appointments, without appointments, just showing up saying I need
help because everything was on the line.
Speaker 2 (23:28):
They had just lost their dad.
Speaker 4 (23:30):
I'm like, I have to do and anything it requires,
And so all that noise went out the window.
Speaker 1 (23:35):
Susan, what about you as a mom of and you
said you have two other children. I do, and so
I can only imagine how much pressure that is on
you and your whole family, right.
Speaker 5 (23:48):
Yes, And I actually struggle a lot with the right
thing to do personally because my first reaction to common
being diagnosed I had just left a corporate job. I
wish I could say that my revelation was I need
to go and cure SKS, but it was actually, there's
no treatment or cure. My baby's going to need care forever,
(24:09):
and I don't know how long she's going to live.
Speaker 2 (24:11):
No one can tell me.
Speaker 5 (24:12):
So my first reaction was, actually, I need to get
back to corporate and be as much money as I
can so that so that there's money to take care
of my baby after I die. And that sits on
your chest all of the time through all of your work.
But it was I met the founders of the foundation
of the SKS Foundation, Kristen and Mike so Laser, focused
on science, so full of hope. They've just got the
(24:34):
CZI grant. They're like, we can do this, we can
drive towards treatments and a cure, and so I jumped
on board. But it is it's a struggle constantly because
you're thinking about taking care of your baby for the
next forty to fifty years, but also at the same time,
how do we take care of all of the SKS
(24:54):
and REP patients.
Speaker 1 (24:55):
We're talking about funding of rare diseases, and Christine, I'm
wondering about you know, obviously there have been a lot
of changes in Washington. I'll leave it at that. Follow
me on Instagram, you'll hear a lot about it. But
I'm curious, Christina, about these cuts in NIH funding. How
you think they're going to impact rare diseases and help
(25:20):
people solve the mystery of so many of these things.
Speaker 6 (25:25):
I mean, to be honest, the NAH has never put
rare disease, unfortunately, as a priority, and so for those
of us doing rare disease research, it's truly foundations like
CZI that have really helped US, and I think we
need to think about getting funding through other sources to
(25:48):
help us and think out of the box. I think
we need to work together and collaborate a partner, but
we do need to find other sources. We can't just
rely on the CCI.
Speaker 2 (26:00):
So it is.
Speaker 6 (26:01):
It is an unfortunate situation right now. But I'm hoping
that we can think positively and spread the word just
like you are doing about rear disease, so people can
see how important it is to partner together in the
future and not just rely on the NIH.
Speaker 1 (26:16):
Sometimes, Susan, though, you can come up with a grant
and then it's such a laborious process. To you, all
of people in the scientific community who might be in
this audience knows how difficult it is to get funding
and how it can take months even years, right.
Speaker 5 (26:31):
I mean, we had a game changing grant for the NIH,
which took us years of developing relationships with researchers, convincing
them to study SKS, funding through cake stalls, and asking
for five ten twenty dollars donations to fund research in
those labs, and we produced enough good data that they
(26:52):
put together a great grant proposal for the NIH for
two and a half million dollars, which is really small
change for some diseases, but for us, with three hundred
and fifty patients worldwide, that's a really big deal.
Speaker 1 (27:04):
And so I think, what is the most status of
that funding.
Speaker 2 (27:09):
We don't know. It's in process.
Speaker 5 (27:11):
We hope that they will keep getting the remainder of
their funding. They're halfway through, but it's very uncertain, which
is really difficult for organizations. Now there are clinical trials
on hold.
Speaker 2 (27:22):
There's research on hold.
Speaker 5 (27:23):
It makes us, it makes it harder for us to
attract researchers in where the futures arenown and you know,
we get help from NIH scientists just giving us advice,
the best animal models to use, who else to collaborate with.
So so it is we might be small, but we've
had game changing support from them, and it's a difficult
(27:44):
time for all of us now.
Speaker 1 (27:45):
The lack of respect for science is catastrophic in my opinion.
That's just my little editorial comment. Tanya, I wanted to
ask you, we're almost out of time about AI and Christina,
please chime in. You know, AI is such an exciting development.
I mean, I know there are perils to the technology,
(28:07):
but when it comes to health and wellness and medicine.
It is going to be such a game changer. How
do you see AI playing into the rare disease arena.
Speaker 3 (28:18):
Yeah, it's actually a super exciting moment right now. I
think AI has the potential to actually transform every aspect
of rare disease, starting with diagnosis and that diagnognostic odyssey
that you just heard about, through drug development, through and
drug repurposing. That's something I'm super excited about.
Speaker 1 (28:39):
I get so excited about that too. Where what give
an example of a drug repurposing.
Speaker 2 (28:45):
So you just.
Speaker 3 (28:46):
Saw David Fagenbaum on that video who talked about a
drug that was sitting in his pharmacy all along that
cured him, and David is now has now led the
development of a nonprofit organization that's dedicated to finding every
possible drug repurposing opportunity for every existing drugs. So there
are three thousand about FDA approved drugs. Most of those
(29:11):
have been approved for just one thing, and we know
they can most likely be used for other things because
biology is connected, right, Diseases are connected to one another.
So that's just an example of something that we're actually
investing in. We're actually funding this initiative, and so as
an example of how it's actually you know, we're actually
building a portfolio now of grants that really are about
(29:32):
helping to bring about, you know, apply generative AI to
rare disease.
Speaker 1 (29:38):
Yeah. And I know when my sister was sick with
pancreatic cancer, part of her cocktail of medications included, weirdly,
the lidamide, which caused so many deformities if you recall
in the fifties. But there was a thought, I don't
even know if it's still being used, that it would
cut off the tumor's blood supply, just like in utero,
(29:59):
some of these limbs weren't growing because the blood supply
was cut off. So I think this is such a
fascinating area of research. Christine, are you jazzed about AI?
Speaker 6 (30:10):
I can't even tell you. I think it is I
absolute grade. It's going to be a game changer.
Speaker 2 (30:13):
We need to.
Speaker 6 (30:15):
Figure out how we're going to utilize this. The massive
ability of AI to process enormous quantities of data and
take that data and then provide information back to us.
But we as humans will need to interpret it, right,
So we can't just give the information. I think, and
I agree with Tanya. Number one, I'll give you real
(30:38):
life examples tango to or SKS. It's going to take
that data from these patients, be able to process it
and then go into the medical records and identify others
so that people don't have this odyssey. Number two is
once we make that diagnosis and we know the genetic
defect SKS or tango too or stiff person syndrome, we
(30:59):
don't know, oh how it does that in the body.
This virtual cell AI has so much potential for AI
to start looking for answers rather than us in the
basic science lad boiling for years. And then third, I
think it's going to be able to help us find
treatments rather than me spending hours interviewing everybody. AI could
(31:21):
potentially do that and identify B vitamins faster than me
and find those cures and those repurposing of drugs. So
it's an exciting time.
Speaker 1 (31:29):
I'm very excited about AI, at least in the medical space.
I know, like AI guided colonoscopies, it's all about colon's
You guys, I'm sorry, but it is calling Cancer Awareness
Month and I just wanted to give a shout out
if you're forty five or over, you need to get
a screening. Ladies and gentlemen. Women are as diagnosed as
(31:50):
often as men, and we're seeing a disturbing number of
young people. I'll be talking about this tomorrow with the
microbiome and gut health of young people being diagnosed with
colorectal cancer. So if you're forty five or over or
you know someone who is, please help them get screen
Thank you.
Speaker 2 (32:06):
Okay, Lmura.
Speaker 1 (32:07):
Before we go, where do you think is the most
exciting opportunity to advance rare diseases right now? Obviously there's
some headwinds with government funding, headwinds with this lack of
respect and appreciation for the credibility of science, which is
so bizarre to me. But tell me what are you
(32:29):
most excited about, Tara when you think about the future.
Speaker 4 (32:34):
Exactly what she said, So the AI, the potential there,
the drug repurposing as well. I mean thinking that there's
a drug sitting on a shelf right in front of
you when you go and CBS that could give you
quality of life. I think that's that's super exciting to
be exploring that. So I applaud David Fagenbaum for doing
(32:55):
what he's doing. And also, I'm going to state the
obvious at least I think it's obvious investing like CZI
has in patient advisory groups and understanding the value in
these groups. And you know, people who are here are
personally impacted by the disease. There's a level of commitment
(33:19):
that's so incredibly high, and we're able to break down silos,
We're able to bring together the best of the best
to accelerate research, and we won't stop until we get
a cure and are better.
Speaker 2 (33:34):
Yeah, better treatment.
Speaker 1 (33:35):
And Christina, do you think women are better at that
than men? Hashtag just saying absolutely, Well, it seems like
women are the people who are really stepping up in
our current climate in general.
Speaker 2 (33:49):
Right, absolutely.
Speaker 6 (33:50):
I mean I think that as women, as mothers, we
have compassion, the ability to listen when it's important, and
the as females, your girlfriends, your friendships, the collaboration that's key.
We put collaboration first before self promotion for the long
(34:12):
term the gain, which is the patient outcomes. And I
think for me, the most exciting thing about the future
is you know, for me, I've found it a foundation
and it's called I hop kids and it's going to
help find answers. But this is the way it's going
to do it, is to find more diseases that are
causing sudden death and doing it together.
Speaker 1 (34:31):
When my husband was six, Susan I used to say,
nothing is more motivating than fear and desperation when you
see someone you love suffering, and my heart goes out
to you because it must be so challenging every day
to see your child suffering.
Speaker 5 (34:51):
You join this community, though, and there's a puff and
it's not just hope. It's really strategic science, so drag
purposing to just put numbers on it. I can't afford
a clinical trial. It costs tens of millions of dollars
to do clinical trials for a brand new drug. But
I can raise one hundred thousand dollars a year to
test drugs in fruit flies, the humble fruit fly.
Speaker 2 (35:14):
I can do that, and if.
Speaker 5 (35:15):
We see results in sleep, or in seizures or in
violent behavior, we can transfer that to Gusto syndrome, to
other disorders of sleep issues that have size issues. Because
these are FDA approved drugs. So if we see some
positive results and we have willing and active pediatricians and parents,
(35:37):
there's no harm in trying vitamin B, right, So there's
just so much strategic stuff we can do to Frankly,
I spend all my life thinking about Carmen's disease, but
I spend my time with these people thinking about like,
how are we going to get these treatments done?
Speaker 1 (35:53):
And there's so much overlap I think in rare diseases
because anyway, Tanya, But you know, if people want to
learn more and you know, and and support what CZI
is doing, support these communities, how can they do that?
Speaker 3 (36:13):
Well, you can go to rareswe dot org and learn
more about our program and all the groups within our
rares one network. You can, you know, I think part
of this is just awareness understanding that rare diseases are
not rare collectively, they're incredibly common. Probably everyone in this
room knows somebody. You may not know that they have
a rare disease, but they have a disease that probably
(36:33):
is rare. I just want to say in terms of
what I'm hopeful about, I mean, my BET's on the patients.
Maybe that's obvious, but I just you know, we have
seen extraordinary progress, and we've been running this program for
five years like I said, we now have one hundred
groups within our network.
Speaker 2 (36:51):
Our first cohort of thirty groups.
Speaker 3 (36:54):
There's a if you go to our website, you can
find a report about those groups.
Speaker 2 (36:58):
Collectively, those thirty.
Speaker 3 (36:59):
Organizations engaged more than three thousand researchers and clinicians in
their diseases, and they have actually supported more than three hundred.
Speaker 2 (37:09):
And fifty research studies.
Speaker 3 (37:11):
These studies would not be happening if these groups did
not exist. The power is in these organizations to actually
drive the research forward, and it won't happen without them,
and so it is what gives me absolute hope and motivation.
And the patient groups are important, not just because no
one's more motivated. They're going to run through walls to
(37:33):
find treatments for these diseases, there's no question, and that's
incredibly motivating for researchers working with these organizations. But we
have to also recognize they have you've just heard it
on this panel. They have deep expertise and experience in
their diseases and that is fueling the research. It's helping
the researchers solve these diseases. And we have countless examples
(37:55):
now researchers coming to us and sharing with us how
working with these communities has actually transformed their research. In Christina,
the case with Tengo Too is an example that it
was patients observed that when their kids were on vitamins,
they didn't seem to have these the worst effects of
that disease, which got her to do the natural history
study and try to sort of figure this out. So
(38:16):
it's really about these partnerships between patients and researchers and clinicians.
Speaker 1 (38:21):
That is what gives me hope so well, and their
joint expertise well and these are obviously smart cookies up here,
by the way, Susan's a rhodeschalar. I'm always so impressed
by that. Not that long ago anyway, Tara, Christina, Susan, Tanya,
thank you so much for the work you're doing and
(38:43):
we're holding you in our hearts as you continue to
work and make progress towards better treatments and hopefully one
day God willing a cure. Thank you, Thanks for listening everyone.
(39:04):
If you have a question for me, a subject you
want us to cover, or you want to share your
thoughts about how you navigate this crazy world, reach out
send me a DM on Instagram. I would love to
hear from you. Next Question is a production of iHeartMedia
and Katie Couric Media. The executive producers are Me, Katie Kuric,
(39:25):
and Courtney Ltz. Our supervising producer is Ryan Martz, and
our producers are Adriana Fazzio and Meredith Barnes. Julian Weller
composed our theme music. For more information about today's episode,
or to sign up for my newsletter wake Up Call,
go to the description in the podcast app, or visit
(39:45):
us at Katiecuric dot com. You can also find me
on Instagram and all my social media channels. For more
podcasts from iHeartRadio, visit the iHeartRadio app, Apple Podcasts, or
wherever you listen to your favorite shows. What if we
told you it was possible to prevent, manage, your cure
all disease by the end of the century. The Chans
(40:08):
Zuckerberg Initiative is advancing biomedical research and leveraging AI to
change medicine for decades to come. By bringing together science,
tech researchers, and engineers, they're building a better future for everyone.
Learn more at CZI dot com, That's CZI dot com,
(40:28):
or follow them on social media,
What if we told you it was possible to prevent, manage,
or cure all disease by the end of the century. Well,
the chand Zuckerberg Initiative is on an ambitious mission to
make that a reality. Go to CZI dot com or
follow them on social media to learn more about how
they're building a better future for everyone.
Speaker 2 (00:27):
Hi.
Speaker 1 (00:27):
Everyone, I'm Kitty Kuric, and this is next question. Approximately
ten thousand rare diseases affect as many as four hundred
million people around the world, and women leaders have been
truly at the forefront of bringing awareness and driving change. Today,
(00:48):
we have a privilege, the privilege to talk with four
of these women about the unique challenges in rare diseases
and patient advocacy and research and how they're resilt alliance
and ingenuity has really moved the needle toward treatments and cures.
I'm always excited to be here with my friend Tanya Simachelli. Tanya,
(01:11):
we've been here. This is our third year at the
She Media Tent, so she may be a film familiar
face to some of you. Tanya joined CZI the Chan
Zuckerberg Initiative in twenty seventeen and launched rare as one
two years later. Prior to that, she has over twenty
eight years of experience in science, policy and advocacy. Meanwhile,
(01:33):
I'm not doing this in order necessarily. Tara Zier, who
is at the end there, is the founder and president
of the Stiff Person Syndrome Research Foundation. Tara was diagnosed
with Stiff Person syndrome in twenty seventeen, so she's here
to talk about her experience as both a patient and
an advocate. Doctor Christina Miyaki is next to Tara. She's
(01:56):
the director of the Genetics Arrhythmia Program, an Associate professor
at the Baylor College of Medicine, and collaborates with patient
organizations to study these conditions and help search for treatments
and cures. She knows firsthand the value of patient centered research.
And finally, Susan Dando, the executive director of the Smith
(02:18):
Kingsmore Syndrome Foundation. She joined the foundation in twenty twenty two,
shortly after her daughter was diagnosed with this disease. Nothing
excites me more than talking to really smart, kick ass women.
So needlanden to say, I am in hog Heaven right now.
Speaker 2 (02:37):
Give them around of applause.
Speaker 1 (02:42):
It's a real privilege to be here with all of you,
and Tanya, let me start with you. I am always
struck by this statistic that there are over ten thousand
rare diseases impacting four hundred million people across the globe.
Tell us a little bit about why you created the
rare as one and how it supports patient communities and
(03:03):
accelerates why do I feel like I'm kind of looking backwards,
I don't know or yeah shares no, I'm good, Now
you're good, and how it supports these communities and accelerates research.
Speaker 3 (03:15):
Thanks so much, Katie, it's so great to be here
with you again and with this amazing panel. So I
think really three things that really inspired the rare As
one project. The first is just the extraordinary unmet need
in the space, as you mentioned the four hundred million
people who are impacted around the globe, but also the
fact that there are fewer than fewer than five percent
(03:37):
of these diseases have any FDA approved therapies, so there's
just an unbelievable gap there. Secondly, while these diseases are
really understudied, they're incredibly important scientifically, so you know, the
vast majority of these diseases are actually caused by genetic
(03:59):
changes in single genes and as opposed to common conditions
that are often caused by tens, if not hundreds, of
different genes interacting with one another.
Speaker 2 (04:09):
So when you study these rare.
Speaker 3 (04:11):
Monogenetic diseases, you have this incredible window into human biology,
and if we can understand the function of these genes
and what's actually happening in people with these diseases, it
can often leads to insights into how we can also
treat common diseases, so they're really really important. And then
the third reason is actually really about sort of the
evolution of patient advocacy. So in the last twenty years,
(04:34):
we've seen this incredible proliferation of patient led rare disease
organizations like some of the ones that you just saw
in the film, who are really going beyond sort of
the more traditional advocacy work of disease awareness and just
raising general funds for their disease and actually driving the
(04:55):
research forward, like NASA Fitter says in the video. And
they're doing this by building really strong communities but then
really actively engaging researchers and clinicians in their disease areas
and actually going about the work of building you know,
clinical registries and biobanks and all these assets that are
needed to study their diseases. They're recognizing that no one
(05:18):
is going to do that for them. The incentives aren't there, right,
And so so that's really the third reason that there's
been this like extraordinary growth of these organizations. Some of
them are kicking ass, yeah, and doing this incredible work,
but there are no there were no major funders in
this space that were providing consistent sources and resources to
(05:40):
these organizations. And so I really said, you know, we
need to build a program that really supports these organizations
in this work if we're serious about, you know, our mission,
which is to cure, prevenor manage all diseases.
Speaker 1 (05:52):
Yeah, and I feel like nobody is more passionate and
committed and driven than someone who has firsthand experience with
the disease. I know I felt that way when my
husband died of colon cancer. I felt like I have
got to do something about it. And then people with
living disease, living with disease, you know, they are so
(06:13):
highly motivated and Tara, and you know, I wanted to
ask you about stiff person syndrome because it's a rare
autoimmune neurological disorder that affects only four to five people
in a million. And now you run the Stiff Person
Syndrome Research Foundation. Tell us a little bit about your story,
because when I read it Tara, I thought, oh my god,
(06:35):
this woman has been through hell and she's still standing
and she's still fighting and doing something about it.
Speaker 4 (06:43):
Sure, Katie, First, thanks for having me. I'm so excited
to be here. I really appreciate the opportunity, and I'm
happy to share about stiff person syndrome. I want to
speak to the name. The name does not do this
disease justice. It's disabled. People can have muscle spasms so
severe they break bones, dislocate joints, and result in life
(07:06):
threatening breathing problems.
Speaker 2 (07:09):
People are just stiff.
Speaker 4 (07:10):
So it's a little bit tough to people understand.
Speaker 2 (07:15):
Well, we thought about that in the beginning.
Speaker 4 (07:16):
Do we try to change the name or do we
just go after your better treatments? And I thought it
would be best to just go after better treatments.
Speaker 2 (07:24):
Yeah.
Speaker 4 (07:25):
So, my gosh, I had a very agonizing diagnostic odyssey,
which is not uncommon with rare diseases. Unfortunately, it took
me almost three years to get diagnosed. In twenty fourteen,
my former husband died by suicide.
Speaker 2 (07:43):
My kids were eleven and thirteen.
Speaker 4 (07:45):
At the time, and the stress and pressure I felt
to stay alive was unimaginable.
Speaker 2 (07:54):
Two months later.
Speaker 4 (07:55):
I was hospitalized with pneumonia, and then my health spiraled down,
and over three years I was experiencing really oddball frightening symptoms.
I was going from doctor to doctor in crisis mode,
knowing something was seriously wrong and trying to find answers.
I was mismanaged, mislabeled, told it was all in my head.
(08:19):
At one appointment with my primary care doctor, he told
me kind of leaned into me and he said, I
don't know why you're going from doctor to doctor. Take
this medication for anxiety and see me back in three months.
Speaker 2 (08:35):
And like, I'm.
Speaker 4 (08:36):
Professional, but I'm also not going to put up with that.
And I said, you know, I appreciate that, but if
you were in my shoes, you would be doing the
same thing.
Speaker 1 (08:45):
And another doctor said, this is stress, and you said, yes,
I'm stressed, but I'm also sick.
Speaker 2 (08:52):
Absolutely absolutely.
Speaker 4 (08:55):
It got to the point in twenty seventeen, in March
I lost thirty in a month. Every day I was
standing on the scale and I was dropping. I was dropping.
I was dropping. I thought I was going to die.
I couldn't work. I was a dentist. I couldn't work anymore.
I couldn't drive, I couldn't take care of myself. I
couldn't take care of my kids. I had to hire
(09:16):
someone to live with us.
Speaker 1 (09:18):
And so hard for your kids, I know, because they
had just lost their dad.
Speaker 4 (09:22):
And I couldn't control it, and that seeing them so
stressed and not having control over that was horrible. And
I finally connected to the right doctors. I found a
wonderful primary care doctor who listened to me, who dismissed
the labels and referred me to a local neurologist where
(09:44):
I was diagnosed. He read the right tests, and I
landed at Johns Hopkins for my treatment. And it was
probably my third visit at Hopkins when my neurologists told
me that they had recently applied for a grant for
research at NIH and they were denied the grant because
there wasn't enough research to support.
Speaker 2 (10:05):
Getting the grant right and you know, chicken her egg
right like, and that just blew my mind.
Speaker 4 (10:12):
I'm like, if Hopkins can't get a grant, that's a
big problem.
Speaker 2 (10:16):
And you know, here I was.
Speaker 4 (10:18):
I remember just sitting there like sideways, you know, looking
at him, and I was, you know, in debilitating pain,
no good treatments, no cure, single mother. And it was
that moment where I knew I needed to do something.
Speaker 2 (10:34):
And two weeks later we were on.
Speaker 4 (10:36):
The news raising awareness, and then I knew we needed
to raise funds for research. So I started the Stiff
Person Syndrome Research Foundation and the latter part of twenty
nineteen with two main drivers, one to support research for
better treatments and a cure, and two to show my
children that no matter what hand your dealt in life,
(10:57):
you can still make a difference for people. That's what
gets me out in Dada.
Speaker 1 (11:05):
And of course Seline Dion, when I think that was
well publicized, got the disease a lot of attention, which
was probably helpful.
Speaker 4 (11:13):
Absolutely so grateful for her. That was like worldwide awareness
in a.
Speaker 1 (11:17):
Day, rightly educated so many people very quickly. And Susan,
your daughter Carmen was diagnosed with something called Smith Kingsmore
syndrome or SKS when she was nine years old. Can
you tell me how she about this disease and how
she was ultimately diagnosed.
Speaker 5 (11:37):
Yes, so we also had a diagnostic odyssey. Carmen was
diagnosed as autistic at four and had a lot of
the things that are relatively common in autism. She doesn't
speak very much. Most you to say, go away, mummy,
no thanks mummy. She has a sort of motown's struggles
to learn. But the big thing for us is that
(12:00):
she doesn't sleep, and by not sleeping, it's like she
really doesn't sleep. We would put her to bed at
seven thirty, she'd get to sleep at ten thirty. She
would wake up at one am and be awake, wake
up the whole house, destroy things. The more we tried
to get her to bed, the more violent she became.
She would hurt herself and hurt us. She would pass
out again at three am, wake up again at four
(12:21):
thirty am, and it would start again.
Speaker 2 (12:24):
So this happened.
Speaker 5 (12:26):
We would talk to the doctors and say, this is
what's happening in our house, and they would say, well,
you know, it's fairly common for artistic kids to not
sleep very much.
Speaker 2 (12:36):
Is she napping during the day? And I would say no,
and they.
Speaker 5 (12:40):
Said, well, you know, if she's not napping, she's probably
getting enough sleep. It's just part of who she is,
and she'll be okay. And I'm like, we're not okay.
I'm living with a living with a newborn, barely able
to function. My two other daughters are going to school
sleep deprived. But we really struggled to push back on
(13:02):
doctors with that. We almost became so tired it wasn't
worth the fight, but you know, we'd start reading. I
finally pushed for full genetic testing and we were sitting
with a genetic counselor and they said, well, she's actually
got this rare genetic syndrome was by a mutation to
the m tour gene called Smith Kingsmore syndrome. There's no treatments,
(13:24):
no cure, there's really not nothing you can do.
Speaker 2 (13:26):
There is people, there's around three hundred and.
Speaker 5 (13:30):
Fifty people worldwide that we know of, but they're like,
there is this foundation, the SKS Foundation. You probably should
look them up and so and we'll see you in
a year. So we went and looked them up, and
then everything made sense. There are these people all over
the world with sleep disorders, intellectual disability, limited communication and
(13:51):
we found our people and we found some hope.
Speaker 1 (13:54):
When you hear these stories, Tanya, and how do you
connect the rarest One Initiative with people like this who
are desperate to try to find answers? And Christine, I'm
going to talk about your side of this as a
researcher and scientists, But what kind of infrastructure do you
(14:15):
provide that gives people some hope, connection and then they
can actually dream about the future? Yees.
Speaker 3 (14:24):
So the heart of our program is actually our rare
is One network and to date we've actually funded nearly
one hundred patient led organizations advising like Susan's in Paris,
including Susan's and Terras, across multiple cycles, and we're not
just providing them with funding, but we're also building out
(14:48):
a whole capacity building program and helping them to build
their organizational capacity as you just heard, like neither Tara
nor Susan came to this by training right or on
purpose right and also scientific capacity building really helping them
do things like how do you build a scientific advisory
board for your organization, how do you work with researchers,
(15:09):
how do you work with industry to develop treatments like
so all of that we've packaged, and actually I should
point out Heidi and Andrew in the front row who
actually run the Rares one network and all the capacity
building for the program. And importantly we give them opportunities
to collaborate with one another, and I.
Speaker 1 (15:27):
Mean it despite like maybe different diseases, but trying to
strategize and navigate the system. So I imagine that that's
been very helpful to you too, Susan and Terat, to
just know each other and try to navigate things. And
I imagine that rare is one for both of you
and for so many of these people who are struggling.
(15:50):
It's a godsend, isn't it.
Speaker 2 (15:52):
Absolutely it is a game changer.
Speaker 1 (15:56):
I wanted to ask Christina about her role because doctor Miaki,
you're coming at this from a clinical research perspective, and
doctor Miaki told me I could call her Christine. I'm
not being disrespectful. Tell us about the research you're doing
with something called Tango to deficiency disorder and what that is.
Speaker 6 (16:16):
Thanks so much, Katie. It's really an honor to be
up here today with all of you. So I came
to work with Tango too because I'm a pediatric genetic electrophysiologist,
And that's just a fancy way of saying I'm a
heart doctor and I work with families who have conditions
that run in families that can lead to a cardiac
arrest or set in death. And as a background, every year,
(16:39):
approximately twenty three thousand children have a cardiac arrest and
of those over ninety percent don't survive, and of those
that survive, fifty percent don't get an answer. And so
that's what I do. I've dedicated my career and my
research to finding answers for these families and giving them
that diagnosis. One of them is tango tooths and so
(17:04):
working with these families, I've been able and through support
with the CZI, it's allowed me to identify a treatment
and you'll see some of the symptoms.
Speaker 1 (17:14):
Yeah, we have a video actually about tango iiO that
we can watch and you can talk about at the
same time.
Speaker 6 (17:22):
It's a rare disease that affects eight thousand and these
are some of the symptoms. Balance falling over, severe with
weakness and inability to get up, speech difficulties and cognitive delays,
difficulty walking to the point it progresses till you're in
a wheelchair and you can't speak. Two parents, Mike and
Kasha More started the foundation and in twenty nineteen I
(17:44):
began interviewing patients around the world and through this natural
history study, I identified that B vitamins prevent cardiac arrest
and some of the symptoms. So this is Phoebe. You
can see some of the symptoms, but children were dying
cardiac arrest and it had a high mortality rate. In
twenty twenty three, Phoebe was finally diagnosed and started on
(18:07):
B vitamins and you can see the difference within two weeks.
So she is now walking, she's got she can talk better,
she's got more energy, and she's a normal kid. And
it is through the B vitamins.
Speaker 2 (18:22):
No child since has died.
Speaker 6 (18:25):
And it's through funding through foundations like CZI that allow
us as physicians to work with organizations to find the
answers that ultimately are going to help the patient.
Speaker 1 (18:40):
What if we told you it was possible to prevent, manage,
your cure all disease by the end of the century.
The Chans Zuckerberg Initiative is advancing biomedical research and leveraging
AI to change medicine for decades to come. By bringing
together science, tech, researchers, and engineers, they're building a better
future for everyone. Learn more at CZI dot com that's
(19:04):
CZI dot com or follow them on social media. How
critical is it for you as a scientist to actually
interface with the patient population, because I would think that
(19:25):
would be a no brainer. I don't know how scientists
did it without having that kind of exposure before.
Speaker 6 (19:32):
I think that's what we need to change, and I
think that's what CZI is promoting and doing and funding.
We can't do what we do without the patients, without
these amazing mothers. They're so motivated to find answers. It's
only through collaborative and partnerships that we're going to push
rare disease discovery.
Speaker 1 (19:52):
It seems crazy to me, it's just be vitamins. Did
you discover that, Christina? Yeah, I would say that's amazing
by the way. I mean, it's something something so simple
and accessible can be so life changing for those kids.
Speaker 6 (20:09):
And I think it's as simple as paying attention to
the parents, listening to them, and then really taking that
into the science to find those answers that it really
starts at the patient.
Speaker 1 (20:22):
I'm just curious as women who are impacted by these diseases,
both as patients and as caregivers, Can you describe the
impact of these diagnoses on your lives and the disproportionate
impact they have on mothers?
Speaker 2 (20:45):
Sure?
Speaker 6 (20:45):
I gosh.
Speaker 4 (20:49):
For me personally, I think, at least to now, the
greatest impact was daring that diagnosse stick odyssey phase. I
was in the er.
Speaker 2 (21:05):
I went to the er thirteen times, and.
Speaker 4 (21:09):
My kids were witnessing that, and that was brutal, Like
I had to make a decision when I felt something
life threatening, I felt those symptoms, Do I risk dying
or do I traumatize my kids and call nine one wine?
And it was to the point where after the seventh
(21:30):
eighth time, I would call nine one Wine and I
would say, listen, I know this sounds crazy, but can
you not turn the sirens on when you come up
to the house Because my son told me later, Mommy,
every time I hear sirens, I feel really upset because
I think they're coming for you.
Speaker 1 (21:47):
You also fit faced. I think TIRA the quintessential problem
that so many women face in the medical system, which
is relaxed or you know you're stress. Here's a pill
for anxiety. It's all in your head. Don't be hysterical.
And I think for many women, they're intimidated and embarrassed,
(22:10):
and they're made to feel shame for fighting their doctors
or being aggressive or going to another doctor. And so
I think as a mother, obviously your kids were worried
about you, but as just a woman, you faced a
lot of discrimination in the healthcare system.
Speaker 4 (22:32):
Yeah, it's real, and people will tell you it's real.
I sat on a plane beside a cardiologist and we
happened to start talking and he's like, Tara, you know
it's real.
Speaker 2 (22:41):
And I'm like, I know it's real.
Speaker 4 (22:44):
So you know, it's one of those things too, where
I was on a call with an eer physician. It's like, well,
how do you show up, you know, as a woman,
and there's some you know, some bias there, and it's like, okay,
well don't be super emotional, Okay, well be professional.
Speaker 2 (23:02):
It's like it's.
Speaker 4 (23:03):
Difficult, right because I show up and I could tell you, Katie,
like I have a pain.
Speaker 2 (23:08):
Level of nine and I'm not crying, and.
Speaker 4 (23:11):
You know, it's really difficult to navigate. And I think
the key is you just have to push, You have
to do whatever it requires. I was showing up in
doctor's appointments, without appointments, just showing up saying I need
help because everything was on the line.
Speaker 2 (23:28):
They had just lost their dad.
Speaker 4 (23:30):
I'm like, I have to do and anything it requires,
And so all that noise went out the window.
Speaker 1 (23:35):
Susan, what about you as a mom of and you
said you have two other children. I do, and so
I can only imagine how much pressure that is on
you and your whole family, right.
Speaker 5 (23:48):
Yes, And I actually struggle a lot with the right
thing to do personally because my first reaction to common
being diagnosed I had just left a corporate job. I
wish I could say that my revelation was I need
to go and cure SKS, but it was actually, there's
no treatment or cure. My baby's going to need care forever,
(24:09):
and I don't know how long she's going to live.
Speaker 2 (24:11):
No one can tell me.
Speaker 5 (24:12):
So my first reaction was, actually, I need to get
back to corporate and be as much money as I
can so that so that there's money to take care
of my baby after I die. And that sits on
your chest all of the time through all of your work.
But it was I met the founders of the foundation
of the SKS Foundation, Kristen and Mike so Laser, focused
on science, so full of hope. They've just got the
(24:34):
CZI grant. They're like, we can do this, we can
drive towards treatments and a cure, and so I jumped
on board. But it is it's a struggle constantly because
you're thinking about taking care of your baby for the
next forty to fifty years, but also at the same time,
how do we take care of all of the SKS
(24:54):
and REP patients.
Speaker 1 (24:55):
We're talking about funding of rare diseases, and Christine, I'm
wondering about you know, obviously there have been a lot
of changes in Washington. I'll leave it at that. Follow
me on Instagram, you'll hear a lot about it. But
I'm curious, Christina, about these cuts in NIH funding. How
you think they're going to impact rare diseases and help
(25:20):
people solve the mystery of so many of these things.
Speaker 6 (25:25):
I mean, to be honest, the NAH has never put
rare disease, unfortunately, as a priority, and so for those
of us doing rare disease research, it's truly foundations like
CZI that have really helped US, and I think we
need to think about getting funding through other sources to
(25:48):
help us and think out of the box. I think
we need to work together and collaborate a partner, but
we do need to find other sources. We can't just
rely on the CCI.
Speaker 2 (26:00):
So it is.
Speaker 6 (26:01):
It is an unfortunate situation right now. But I'm hoping
that we can think positively and spread the word just
like you are doing about rear disease, so people can
see how important it is to partner together in the
future and not just rely on the NIH.
Speaker 1 (26:16):
Sometimes, Susan, though, you can come up with a grant
and then it's such a laborious process. To you, all
of people in the scientific community who might be in
this audience knows how difficult it is to get funding
and how it can take months even years, right.
Speaker 5 (26:31):
I mean, we had a game changing grant for the NIH,
which took us years of developing relationships with researchers, convincing
them to study SKS, funding through cake stalls, and asking
for five ten twenty dollars donations to fund research in
those labs, and we produced enough good data that they
(26:52):
put together a great grant proposal for the NIH for
two and a half million dollars, which is really small
change for some diseases, but for us, with three hundred
and fifty patients worldwide, that's a really big deal.
Speaker 1 (27:04):
And so I think, what is the most status of
that funding.
Speaker 2 (27:09):
We don't know. It's in process.
Speaker 5 (27:11):
We hope that they will keep getting the remainder of
their funding. They're halfway through, but it's very uncertain, which
is really difficult for organizations. Now there are clinical trials
on hold.
Speaker 2 (27:22):
There's research on hold.
Speaker 5 (27:23):
It makes us, it makes it harder for us to
attract researchers in where the futures arenown and you know,
we get help from NIH scientists just giving us advice,
the best animal models to use, who else to collaborate with.
So so it is we might be small, but we've
had game changing support from them, and it's a difficult
(27:44):
time for all of us now.
Speaker 1 (27:45):
The lack of respect for science is catastrophic in my opinion.
That's just my little editorial comment. Tanya, I wanted to
ask you, we're almost out of time about AI and Christina,
please chime in. You know, AI is such an exciting development.
I mean, I know there are perils to the technology,
(28:07):
but when it comes to health and wellness and medicine.
It is going to be such a game changer. How
do you see AI playing into the rare disease arena.
Speaker 3 (28:18):
Yeah, it's actually a super exciting moment right now. I
think AI has the potential to actually transform every aspect
of rare disease, starting with diagnosis and that diagnognostic odyssey
that you just heard about, through drug development, through and
drug repurposing. That's something I'm super excited about.
Speaker 1 (28:39):
I get so excited about that too. Where what give
an example of a drug repurposing.
Speaker 2 (28:45):
So you just.
Speaker 3 (28:46):
Saw David Fagenbaum on that video who talked about a
drug that was sitting in his pharmacy all along that
cured him, and David is now has now led the
development of a nonprofit organization that's dedicated to finding every
possible drug repurposing opportunity for every existing drugs. So there
are three thousand about FDA approved drugs. Most of those
(29:11):
have been approved for just one thing, and we know
they can most likely be used for other things because
biology is connected, right, Diseases are connected to one another.
So that's just an example of something that we're actually
investing in. We're actually funding this initiative, and so as
an example of how it's actually you know, we're actually
building a portfolio now of grants that really are about
(29:32):
helping to bring about, you know, apply generative AI to
rare disease.
Speaker 1 (29:38):
Yeah. And I know when my sister was sick with
pancreatic cancer, part of her cocktail of medications included, weirdly,
the lidamide, which caused so many deformities if you recall
in the fifties. But there was a thought, I don't
even know if it's still being used, that it would
cut off the tumor's blood supply, just like in utero,
(29:59):
some of these limbs weren't growing because the blood supply
was cut off. So I think this is such a
fascinating area of research. Christine, are you jazzed about AI?
Speaker 6 (30:10):
I can't even tell you. I think it is I
absolute grade. It's going to be a game changer.
Speaker 2 (30:13):
We need to.
Speaker 6 (30:15):
Figure out how we're going to utilize this. The massive
ability of AI to process enormous quantities of data and
take that data and then provide information back to us.
But we as humans will need to interpret it, right,
So we can't just give the information. I think, and
I agree with Tanya. Number one, I'll give you real
(30:38):
life examples tango to or SKS. It's going to take
that data from these patients, be able to process it
and then go into the medical records and identify others
so that people don't have this odyssey. Number two is
once we make that diagnosis and we know the genetic
defect SKS or tango too or stiff person syndrome, we
(30:59):
don't know, oh how it does that in the body.
This virtual cell AI has so much potential for AI
to start looking for answers rather than us in the
basic science lad boiling for years. And then third, I
think it's going to be able to help us find
treatments rather than me spending hours interviewing everybody. AI could
(31:21):
potentially do that and identify B vitamins faster than me
and find those cures and those repurposing of drugs. So
it's an exciting time.
Speaker 1 (31:29):
I'm very excited about AI, at least in the medical space.
I know, like AI guided colonoscopies, it's all about colon's
You guys, I'm sorry, but it is calling Cancer Awareness
Month and I just wanted to give a shout out
if you're forty five or over, you need to get
a screening. Ladies and gentlemen. Women are as diagnosed as
(31:50):
often as men, and we're seeing a disturbing number of
young people. I'll be talking about this tomorrow with the
microbiome and gut health of young people being diagnosed with
colorectal cancer. So if you're forty five or over or
you know someone who is, please help them get screen
Thank you.
Speaker 2 (32:06):
Okay, Lmura.
Speaker 1 (32:07):
Before we go, where do you think is the most
exciting opportunity to advance rare diseases right now? Obviously there's
some headwinds with government funding, headwinds with this lack of
respect and appreciation for the credibility of science, which is
so bizarre to me. But tell me what are you
(32:29):
most excited about, Tara when you think about the future.
Speaker 4 (32:34):
Exactly what she said, So the AI, the potential there,
the drug repurposing as well. I mean thinking that there's
a drug sitting on a shelf right in front of
you when you go and CBS that could give you
quality of life. I think that's that's super exciting to
be exploring that. So I applaud David Fagenbaum for doing
(32:55):
what he's doing. And also, I'm going to state the
obvious at least I think it's obvious investing like CZI
has in patient advisory groups and understanding the value in
these groups. And you know, people who are here are
personally impacted by the disease. There's a level of commitment
(33:19):
that's so incredibly high, and we're able to break down silos,
We're able to bring together the best of the best
to accelerate research, and we won't stop until we get
a cure and are better.
Speaker 2 (33:34):
Yeah, better treatment.
Speaker 1 (33:35):
And Christina, do you think women are better at that
than men? Hashtag just saying absolutely, Well, it seems like
women are the people who are really stepping up in
our current climate in general.
Speaker 2 (33:49):
Right, absolutely.
Speaker 6 (33:50):
I mean I think that as women, as mothers, we
have compassion, the ability to listen when it's important, and
the as females, your girlfriends, your friendships, the collaboration that's key.
We put collaboration first before self promotion for the long
(34:12):
term the gain, which is the patient outcomes. And I
think for me, the most exciting thing about the future
is you know, for me, I've found it a foundation
and it's called I hop kids and it's going to
help find answers. But this is the way it's going
to do it, is to find more diseases that are
causing sudden death and doing it together.
Speaker 1 (34:31):
When my husband was six, Susan I used to say,
nothing is more motivating than fear and desperation when you
see someone you love suffering, and my heart goes out
to you because it must be so challenging every day
to see your child suffering.
Speaker 5 (34:51):
You join this community, though, and there's a puff and
it's not just hope. It's really strategic science, so drag
purposing to just put numbers on it. I can't afford
a clinical trial. It costs tens of millions of dollars
to do clinical trials for a brand new drug. But
I can raise one hundred thousand dollars a year to
test drugs in fruit flies, the humble fruit fly.
Speaker 2 (35:14):
I can do that, and if.
Speaker 5 (35:15):
We see results in sleep, or in seizures or in
violent behavior, we can transfer that to Gusto syndrome, to
other disorders of sleep issues that have size issues. Because
these are FDA approved drugs. So if we see some
positive results and we have willing and active pediatricians and parents,
(35:37):
there's no harm in trying vitamin B, right, So there's
just so much strategic stuff we can do to Frankly,
I spend all my life thinking about Carmen's disease, but
I spend my time with these people thinking about like,
how are we going to get these treatments done?
Speaker 1 (35:53):
And there's so much overlap I think in rare diseases
because anyway, Tanya, But you know, if people want to
learn more and you know, and and support what CZI
is doing, support these communities, how can they do that?
Speaker 3 (36:13):
Well, you can go to rareswe dot org and learn
more about our program and all the groups within our
rares one network. You can, you know, I think part
of this is just awareness understanding that rare diseases are
not rare collectively, they're incredibly common. Probably everyone in this
room knows somebody. You may not know that they have
a rare disease, but they have a disease that probably
(36:33):
is rare. I just want to say in terms of
what I'm hopeful about, I mean, my BET's on the patients.
Maybe that's obvious, but I just you know, we have
seen extraordinary progress, and we've been running this program for
five years like I said, we now have one hundred
groups within our network.
Speaker 2 (36:51):
Our first cohort of thirty groups.
Speaker 3 (36:54):
There's a if you go to our website, you can
find a report about those groups.
Speaker 2 (36:58):
Collectively, those thirty.
Speaker 3 (36:59):
Organizations engaged more than three thousand researchers and clinicians in
their diseases, and they have actually supported more than three hundred.
Speaker 2 (37:09):
And fifty research studies.
Speaker 3 (37:11):
These studies would not be happening if these groups did
not exist. The power is in these organizations to actually
drive the research forward, and it won't happen without them,
and so it is what gives me absolute hope and motivation.
And the patient groups are important, not just because no
one's more motivated. They're going to run through walls to
(37:33):
find treatments for these diseases, there's no question, and that's
incredibly motivating for researchers working with these organizations. But we
have to also recognize they have you've just heard it
on this panel. They have deep expertise and experience in
their diseases and that is fueling the research. It's helping
the researchers solve these diseases. And we have countless examples
(37:55):
now researchers coming to us and sharing with us how
working with these communities has actually transformed their research. In Christina,
the case with Tengo Too is an example that it
was patients observed that when their kids were on vitamins,
they didn't seem to have these the worst effects of
that disease, which got her to do the natural history
study and try to sort of figure this out. So
(38:16):
it's really about these partnerships between patients and researchers and clinicians.
Speaker 1 (38:21):
That is what gives me hope so well, and their
joint expertise well and these are obviously smart cookies up here,
by the way, Susan's a rhodeschalar. I'm always so impressed
by that. Not that long ago anyway, Tara, Christina, Susan, Tanya,
thank you so much for the work you're doing and
(38:43):
we're holding you in our hearts as you continue to
work and make progress towards better treatments and hopefully one
day God willing a cure. Thank you, Thanks for listening everyone.
(39:04):
If you have a question for me, a subject you
want us to cover, or you want to share your
thoughts about how you navigate this crazy world, reach out
send me a DM on Instagram. I would love to
hear from you. Next Question is a production of iHeartMedia
and Katie Couric Media. The executive producers are Me, Katie Kuric,
(39:25):
and Courtney Ltz. Our supervising producer is Ryan Martz, and
our producers are Adriana Fazzio and Meredith Barnes. Julian Weller
composed our theme music. For more information about today's episode,
or to sign up for my newsletter wake Up Call,
go to the description in the podcast app, or visit
(39:45):
us at Katiecuric dot com. You can also find me
on Instagram and all my social media channels. For more
podcasts from iHeartRadio, visit the iHeartRadio app, Apple Podcasts, or
wherever you listen to your favorite shows. What if we
told you it was possible to prevent, manage, your cure
all disease by the end of the century. The Chans
(40:08):
Zuckerberg Initiative is advancing biomedical research and leveraging AI to
change medicine for decades to come. By bringing together science,
tech researchers, and engineers, they're building a better future for everyone.
Learn more at CZI dot com, That's CZI dot com,
(40:28):
or follow them on social media,
Host
Katie Couric
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