How One Grandmother Fought
for Patients of a Rare Disease ...
When No One Else Would
By Jack Padovano
As I seat myself in the back of the Uber,
I’m grateful to get off my feet. I’ve come
to Salt Lake City, Utah to interview Mary
Schwartz, founder of Pachyonychia
Congenita Project. I’m excited to see
Mary again but it’s been a long day of
travel — rush hour traffic in San Diego,
long security lines at the airport, and a
delayed takeoff. The pain in my feet that
radiates up my legs eases a bit now that
I’m seated. Even on a normal day, the pain
can get pretty bad, but today has been a
considerable challenge.
I have Pachyonychia Congenita — “PC” for
short — an ultra-rare genetic autosomal
dominant skin disorder which often causes
painful calluses and blisters on the soles of
the feet, thickened nails, and cysts. Of the
approximately 10,000 people in the world
right now living with PC, about half are
inherited cases and the other half are
spontaneous cases like me. While the
physical symptoms are comparable,
spontaneous cases can suffer more from
feelings of alienation. Growing up, you
don’t have a parent who can explain what’s
happening to you or why your feet hurt
so much. As an adult, you just wish you
knew anyone who could say, “I know
how you feel.”
That’s why for me and so many others,
finding PC Project was a godsend. I
remember it so clearly.
Back in 2004 on another trip to Salt Lake
City, in a taxi on my way to my very first
PC Project Patient Support Meeting, I felt
apprehensive yet hopeful. In this long PC
journey, I’d been disappointed so often by
doctors and other so-called experts that
I was used to these oscillating feelings
of optimism and fear of being let down
once again. Would this meeting finally
provide some answers? Would this person
understand me? Will they be able to help?
These same questions raced through my
mind as I exited the taxi and entered the
hotel lobby. But then, just by coincidence,
the first person I made eye contact with
was Mary. Her smile was calm, knowing,
loving. And somehow I just knew that this
time would be different.
As I approached Mary, she took my hand,
looked into my eyes, and said, “We’ve been
looking for you. Thank you for coming.
You’ve found your people.” She knew
exactly what I was feeling, and she could
put words to those feelings in ways I never
could, in ways that made me feel like I
wasn’t alone anymore. I’ve come to
understand that this is simply who she is;
Mary connects people. More than that,
she creates and nurtures families.
Mary Schwartz and Jack Padovano at 2011
IPCC Meeting in Phoenix, Arizona
Her next words to me revealed a longing
I’d carried for years but never consciously
acknowledged. “You’re home,” she said.
At that meeting in Utah, I met for the
very first time other people living with
PC. It’s hard to describe how profoundly
comforting that feels. If you’ve ever been
lost in a foreign country where you don’t
speak the language and you suddenly
discover that the person standing next to
you was in your kindergarten class and
grew up in your hometown, then you just
might be able to understand. I remember
this one six-year-old boy in particular.
We looked at each other, and in that
instant, we were compadres, brothers.
The connection between PC patients
crosses generations, cultures, backgrounds.
Without exaggeration, it saved my life.
Today, I’m back in Utah, and I’m once again
caught off guard by these sudden strong
feelings of family. Mary greets me at the
door with warm hugs and smiles. An
observer seeing the joy in my face would
never guess that a significant part of my
life involves trying to manage some of the
worst pain a person can experience.
Sadly, PC is still unknown to most
people and often misunderstood by
those who have heard of it, even doctors.
Dermatologists frequently mischaracterize
PC as a simple nail disorder, but it is more
than that, as Mary explains. “Until
recently, most dermatologists thought the
biggest problem with PC was thick nails.
That’s wrong. The biggest problem is pain.
Fortunately, we’ve been able to rewrite
multiple textbooks — the chapters on PC,
where PC was placed in those textbooks,
we’ve corrected a lot of that — as well as
correcting some online resources, too.”
Janice and Mary Schwartz hosting the 2004
IPCC registration table in Park City, Utah
Thanks to Mary’s efforts and the work
of the team of experts she’s built, PC
Project has accomplished much more
than rewriting textbooks. They were
the first to convene an international
consortium of physicians and scientists
to discuss PC research and treatment
options. They were the first to establish a
genetic registry to categorize the different
kinds of genetic mutations in PC patients
and understand what is and isn’t PC. PC
Project helped establish the first PC biotech
firm, TransDerm. Maybe most importantly,
PC Project has created a global community
of physicians and patients to share
information and experiences. This network
not only connects patients to doctors with
the latest data and treatment options, it
connects patients to other patients, who
often feel alone in their suffering.
But such progress had humble beginnings
and did not come easy.
IPCC Genetics and Steering Committee
Eli Sprecher, MD, PhD, IPCC Chair, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
C. David Hansen, MD, University of Utah, Salt Lake City, UT, US
Alain A. Hovnanian, MD, PhD, University Paris Descartes Sorboone, Paris, France
Edel O’Toole, MD, PhD, FRCPI, FRCP, Queen Mary University of London, London, England UK
2
“Working Together Toward a
Common Goal”
The Origin of PC Project
Connections are incredibly important to
Mary Schwarz. Her business is genealogy,
through which she helps connect people
worldwide. As a doting mother and
grandmother, she nurtures loving
relationships within her own family. It’s
no wonder she’s been able to create a
global family of people living with PC
and those that care about them.
Mary first learned about PC in the
early nineties. “I had never heard of
Pachyonychia Congenita until I met
Janice, now my daughter-in-law. I fell in
love with her when my son David did,
and I just couldn’t imagine that nothing
could be done to help her. So that was the
initial drive — to help Jan. Now it’s also
about helping my grandkids, of course,
and every other person I’ve met or haven’t
met with PC.”
At the beginning, Mary assumed — “quite
naively” in her words — that the solution
was simply finding Janice the right doctor.
Her first attempts were dead ends but
Mary’s persistence eventually led her
to Sancy Leachman, then Professor of
Dermatology at the University of Utah
School of Medicine.
“After a few requests, Sancy agreed to
meet with us, and she also fell in love with
Janice — and I think probably tolerated
me.” Mary laughs. “She’s the one who said
this was never going to get solved with one
researcher. We’d need a whole community
of people, all the best minds working on
it. And Sancy, God bless her, she made it
happen.” Through her contacts, Sancy was
able to convene twenty-three of the top
scientists and researchers in the world to
meet with PC Project. To this day, most are
still involved with PC Project, a real credit
to the kind of community Mary was able
to create.

Mary Schwartz and Sancy A. Leachman, MD, PhD
at 2006 IPCC Meeting in Philadelphia where Mary
honored Dr. Leachman at an awards banquet
Mary describes that first meeting to me:
“The most amazing part was seeing all of
them connect with one another. We later
learned that this was a very different
kind of science meeting for them. They
weren’t competing for grants, they weren’t
competing for money. They were working
together toward a common goal that no
one else on earth cared about. That made
it unique, and I think it’s what really
attracted the best people to PC Project.”
At that early stage of PC Project’s history,
Mary’s role was mostly supportive. “Janice
and I tried to learn as much as we could but
we also tried to do a lot of loving things.
We made blankets, we made breadboards.
Each session, we’d have little goodies
for them.” And that loving attention
continues to this very day — sometimes
with unexpected and humorous
consequences. “One year we sent Santa
hats to everyone, which turned out to be
not such a great idea. One of the recipients
opened it in a lab and the fur flew
everywhere. It ended up ruining some of
their experiments! I had the top researcher
in London calling me on the phone
laughing and telling me she’d never had
anyone send feathers to her lab before.”
Mary’s approach was to treat everyone
involved with as much love as she would
her grandkids. Right from the start, she
told them, “We need your hearts, not just
your minds.” For Mary, it was all about
love. With her words and her actions,
she communicated a simple but powerful
message: “We love you, and we need you to
love the patients.” She made it personal for
them, which was drastically different from
the competitive work environment most
were used to. “I remember early on we had
a key researcher tell us that these people
are sharks, they’re going to eat us alive,
we’ll never survive this because the world
of science and research is so viciously
competitive. But we never found that to
be true. Not once.”
3
“We’re Collecting Jewels”
Overcoming Early Challenges
Despite the cooperation and synergy
between the doctors and scientists, PC
Project faced many challenges right from
the start. One of the first hurdles was the
simple fact that science didn’t understand
very much about PC at all. “It was
humbling to realize just how long the
road ahead of us was,” Mary tells me.
“In fact, when we got home from that
first meeting, one of my grandkids who
was seven at the time asked, ‘So did you
find a cure?’” She laughs. “Only a PC patient
would know how hilarious that is, but
that’s the kind of thinking we all had to
some degree early on. Little did we know
the journey we were beginning.”
One of the most difficult challenges Mary
and PC Project faced was attracting the
interest of the pharmaceutical industry.
Rare diseases like PC are known as orphan
diseases because there’s little financial
incentive (i.e. not enough “customers”) for
the private sector to invest in developing
a treatment or cure. But Mary had a
different mindset that fueled her
persistence. “Even though I couldn’t even
get callbacks at first, I always thought of it
more as an opportunity to educate than as
a challenge. You need to connect to people
as people. For me, it’s not about what I can
get from them but what I can give to them.”
One of the people Mary connected
with was Roger Kasper, then VP of Biology
at Somagenics, Inc. He was impressed
with PC Project and Mary’s tenacity.
Mary describes their first conversation:
“He was very frank with me, which
I appreciated. He said we’d never succeed
using a university research lab for the
development work because they’re
dependent on grants, so you can’t truly
do drug development. Anything like that
at a university always spins off into a
company.” Mary was undaunted. “I said,
‘Well, the only person I know to form a
company is you, so let’s make a budget.’ We
were at lunch, so he grabbed some napkins
and drafted out what his budget would be
Personalized Breadboard gifted at the
2004 Park City IPCC Meeting
to form a company — we literally wrote it
out on paper napkins — and that company
was TransDerm.”

Forming TransDerm was a major step

forward for PC Project. TransDerm did
the first clinical trial for siRNA therapy,
the first drug developed to treat PC. The
trial was successful in clearing the
patient’s area of callus and pain, but the
delivery of the drug by hypodermic needle
was very painful. Following the trial,
researchers began efforts to develop
more patient-friendly delivery methods, Mary Schwartz, Frances Smith, Sancy A. Leachman,
including the development of microneedles. Irwin McLean and Roger Kasper at the 2005 IPCC Meeting

But before their drug could be made

available to patients, Mary and Roger
needed to get FDA approval, which
brought its own set of new challenges.
The learning curve was steep and much
was at stake, so Mary hired a consultant
to help with their first meeting with
the FDA. “When our consultant found
out how much I was funding PC Project
personally and there was no large Pharma
company behind it,” Mary remembers,
“he offered us his services for free. It was
another one of many examples of generous
people giving us their best once they
learn what we’re all about.”
At the meeting with the FDA, Mary re-
members sitting at a long table. “The FDA
members were lined up on one side. And
then on the other side there’s me repre-
senting PC Project, Roger Kaspar repre-
senting TransDerm, and our consultant.
It was intimidating.” The FDA had never
heard of Pachyonychia Congenita, and the
focus of their questions for the first fifteen
minutes were directed at Mary about
what kind of profit she expected to make
from PC Project. “It was so crazy I almost
laughed. We’re trying to help people, we’re
trying to alleviate intense pain. No one’s
trying to make any money from this.” To
Mary, it seemed like the FDA members
had never encountered that before. But
once she was able to explain her motiva-
tions, they became very supportive. “I still
remember the first name of the FDA’s head
of dermatology at the time, Elizabeth. We
became very friendly and I could call her
with questions.”
With that hurdle cleared, Mary had to
deal with the complicated practicalities
of submitting the FDA application to
investigate a new drug. “They had very
exact procedures,” Mary describes. “You
have to have a red folder, a yellow folder,
a green folder. And they have to be a very
specific type of folder with sections. We
found the yellow and green, but I just
could not find red.” Mary knew the
large pharmaceutical companies had to
supply this same red folder to the FDA, so
she decided she’d just call them and ask:
“‘Hello, I’m Mary. I have no idea what I’m
doing. But we’re applying to the FDA and
I need a red folder. Could you connect
me to whatever department orders your
folders?’ It took a few tries, but I finally got
to someone. And it turns out that the color
of those folders is called Oxford Brown.
That’s what the FDA calls red. That wasn’t
the first call I’d made like that, and it wasn’t
the last. ‘Hi, I have no idea what I’m doing.
Can you help?’” Mary laughs.
When I ask Mary why she thinks people
have responded so generously to her
requests for help, she doesn’t hesitate
with her answer. “We are so low level
with no pretense that I think we catch
people off-guard. And that’s a good thing
because we need to grab their attention to
get people interested in this disease that no
one else is talking about. It’s going to sound
corny, but it’s always been about love
for us. It’s about loving the patients and
physicians and scientists, and everyone
who helps us — like the person who orders

4
folders at a pharmaceutical company. I
think people pick up on that.”
Mary can provide dozens of examples of
how PC Project’s mission has benefited
from the generosity of others. She tells me
about all of the scientists and researchers
who opened up their networks to invite
others to join, which led to the International
PC Consortium, the visions and sciences
group of PC Project. There was the
researcher who stayed up all night before
his flight out the next day to help build
a bibliography of every article ever
published on PC. And there were
volunteers who had been missionaries
who spoke Korean, Japanese, Italian,
German, French, and more who helped
translate so that PC Project could provide
information and resources to over sixty
different countries.
“We built this beautiful momentum where
brilliant people attracted other brilliant
people from all around the world.” Mary
pauses to take a breath. I can see that she’s
getting emotional. “They’re gems, each one
of them. It’s like we’re collecting jewels.
Their help has been priceless.”
“An Elegant Synergy between
Patient and Doctor”
How PC Patients Inspire Change
It’s in Mary’s nature to praise the
contributions of others, whether it’s a
top scientist at a respected laboratory,
a missionary translator, or the clerk in
the purchasing department of a large
corporation. She doesn’t use it as a strategy
to enroll others in the advancement of
her goals. It’s quite simply who she is.
And from experience, I can tell you it
draws you in. My involvement with
PC Project started as a patient seeking
answers. Very quickly I became a donor.
And now I serve as chair of the PC
Project Board of Trustees. In large part
because of Mary.
So when I ask her what she is most proud
of about PC Project, her answer doesn’t
surprise me: “I’m so proud of the people
involved, what they’ve done, how they’ve
improved on that humble start we made so
long ago. PC Project today is so much better
than anything I ever did. It makes me so
happy to see patients leading PC Project.
They will take PC Project further than
I ever could.”
I ask why she feels that patients can take
PC Project further than she could. “This
group of people with this ultra-rare disease
who suffer one by one, undiagnosed and
untreated, but who are amazingly strong,
accomplished individuals — they just
5
command respect, from me, from the
scientists, from anyone who meets them.”
According to Mary, the scientists and
researchers may have been attracted by
the uniqueness of PC Project, but “they
stay because of the patients.” Anecdotally,
I can verify this point. I’ve met doctors and
scientists at Patient Support Meetings who
have been brought to tears by some of the
patient stories, not out of pity but out of a
respect for that deeply human ability to
transcend suffering and make the most
out of one’s life.
But it’s not just the doctors who are moved
by the stories they hear at Patient Support
Meetings. We patients draw strength and
inspiration from each other’s stories that
we understand all too well. I remember
one child I met who told a story about her
dance class at school. All the kids were
asked to take off their shoes and socks
and put their feet out to touch the next
person. No one wanted their feet to touch
hers. Then there was the scoutmaster who
had to deal with insensitive questions and
snickers each time he changed his socks
in front of others on camping trips. One
woman I met was a bank teller who had
requested a stool at work because she
couldn’t stand for more than an hour at a
time, but her employer stubbornly refused.
Another patient disclosed his PC on a life
insurance application and was denied. PC
has no effect on longevity, yet he couldn’t
find an agency who would insure him.
Physicians and Scientists collaborating on the slopes at
the first IPCC meeting in Park City, UT 2004
All of these burdens are eased best by
meeting other patients who understand
what you are going through. “For some
people, connecting with others is so
helpful that I consider it the beginning of
treatment,” Mary explains. “For example,
when I first met Jan, the only other person
she knew of with PC was in Australia.
She’d never actually met in person anyone
else who had PC besides her own two
children. We found another patient in
Utah, a man named Russell Clark and
arranged a meeting. I remember clear as
day, we were all at my place for Sunday
dinner, and we heard Russell’s footsteps
coming up the stairs. Jan started shaking
from head to toe with the thought of
finally meeting someone outside her
own family with PC. That meeting was
transformational for her. Objectively,
nothing about her PC had changed.
But subjectively, the pain wasn’t as
burdensome and life felt a little easier.”
In addition to patients sharing stories with
each other, another benefit of the support
meetings involves educating the patients
about the science of PC, personal treatment
options, and tips for living with the disease.
It was at a Patient Support Meeting where
I first learned about spontaneous cases
of PC that have no genetic link to one’s
parents. Neither of my parents had PC, so
I shared this new information with my
mother and she broke into tears. I dis-
covered that she’d carried guilt for years
thinking my PC was her fault. I’d never
blamed her. And even in inherited cases,
I don’t believe parents should ever blame
themselves. But in the case of my mother,
this fact relieved her suffering — and by
extension, mine. Mary is right. The sharing
of information and the connecting with
others over common experiences is a kind
of treatment.
The Patient Support Meetings are also
an opportunity to educate physicians.
PC Project invites physician scientists
to attend every meeting. “We tell the
PC patients that this is their chance to
show these physicians what PC is really
like,” says Mary. “At the very first Patient
Support Meeting, I asked the patients to
take their shoes and socks off, and the
physicians were shocked at what they
saw. We had 11 patients at that first
meeting, and even just in those 11 patients,
there was so much variety. Those doctors
learned more about PC in that one
meeting than they ever had.”
For doctors who are used to seeing a
single PC patient at a time — most haven’t
seen any PC patients in person, let alone
more than one — Patient Support meetings
are invaluable. Not only are there more
Dr. C. David Hansen with attendees at the 2019 Patient Support Meeting in Boston, Massachusetts
6
examples of how PC manifests in different
people, the relationship between doctor
and patient is fundamentally different.
“The doctors are there first and foremost
to learn,” Mary explains. “The patients are
really the source of knowledge about PC,
especially back then in the beginning.
And then as the doctors know more, they
become a great resource for the patients.
It’s an elegant synergy between patient
and doctor that is the heart of PC Project.”
“You Are the Future of
PC Project”
Where PC Project Goes Next
When our conversation shifts to Mary’s
thoughts about the future, her eyes light
up. Even before she answers my question, I
can see the hope — no, the belief she carries
— that greater progress still is not far off. PC
Project has accomplished quite a lot in its
short history. And Mary doesn’t hesitate to
describe what accomplishment she would
like us to achieve next.
“Having a trained physician available, a
Dr. Hansen, for every patient.” The man she
is referring to is Dr. C. David Hansen. He
was one of the first doctors to get involved
with PC Project and his commitment to
understanding the nature of the disease
and supporting his patients has set the
bar for a level of care most PC patients
only dream of. He has taken the time to
understand what patients are going
through, what can be done to help them,
and what can’t yet be done. I understand
why Mary holds him as an example of the
kind of doctor that can make a difference.
“Knowledgeable doctors are more
important right now than a treatment
or cure,” she continues. “What good is
a treatment if doctors don’t get it to the
people who need it? We need to solve the
problem of where PC patients can go —
where parents of patients can go — when
they need help. Some will find PC Project,
and we can put them in touch with a
knowledgeable physician. But how many
doctors will they see who don’t know
about PC before they find us?”
While PC Project has succeeded in
educating many doctors and scientists,
most PC patients still live quite far from a
doctor who is truly up-to-date on the latest
PC-related research. Often, the biggest
challenge for PC Project isn’t reaching
the doctor but getting them to listen.
“Sadly, not every physician is open to
being trained,” Mary tells me. “It’s a real
challenge sometimes, but it’s worth it
because the right doctor can make all the
difference for a PC patient. One doctor
from Stanford University who treats a
patient in Central America took the
initiative to connect us because he only
saw his patient about once a year due to
the distance. We provided special nail
clippers that his patient could use to do
their own treatment in between doctor
visits. We’ve found doctors that cover
whole countries like Vietnam, or India,
or Brazil. But it’s also patients who live in
big cities in the US that can’t find doctors
to treat them. How many thousands of
dermatologists are there in the US
right now? And of those, most are
cosmetic dermatologists, not research
dermatologists. And how many research
dermatologists happen to do research
on rare diseases? It’s incredibly difficult
for patients to find a doctor that
understands the course of PC, let alone
the different mutations.”
Despite the challenges, Mary is optimistic.
“The history of PC Project has been about
Russell Clark, Janice Schwartz, Nate Schwartz, Sam Schwartz at the first Patient Support Meeting
at Mary’s home in 2004.
doing things many thought impossible.
Why should we think the future will be
different?” Her belief in the profound
strength and inherent worthiness of each
and every PC patient inspires all who
know her to believe in the impossible too.
My final question to Mary before I have
to leave to catch my flight home concerns
what, if any, message she has for PC
patients who might be reading this article
at the very beginning of their PC journey.
She pauses for a moment. Then she smiles.
“Whether you’re a patient, or a parent of a
patient, or anyone else affected by PC, PC
Project welcomes you to become a part of
this wonderful family. We need you. We
need your strength, your heart, your ideas,
and your questions. We need you to be
spunky, to help us find new answers. PC
patients like you are the future of PC
Project. Please reach out to us to connect.”
I thank Mary for her time today and her
decades-long commitment to PC Project.
We hug and say our tearful goodbyes.
As I leave, though, I’m reinvigorated. The
strains of the day’s travel don’t seem so
heavy anymore. My mind drifts to my
family and how excited I am to see them in
a few hours. I’ve felt this way before, many
times, after a Patient Support Meeting. It’s
one of the greatest gifts Mary has given us.
By reminding us that we are loved, we are
strong, and we are not alone, the parts of
life that bring us joy and truly matter come
into sharp focus. Mary, you too are a gem.
Thank you.