(Music) Hi everyone welcome to this
special health edition of the Balancing
Act I'm Olga Villaverde,
and I'm Amber Milt. Today we're focusing
on two diseases. That's right. First lupus.
It's been in the news recently a superstar Selena Gomez had a
kidney transplant, she's battling lupus
nephritis. Today we're gonna learn more
about this and what's on the horizon to
help those who are battling this disease.
And the second one will go behind the
mystery with the ultra rare disease
known as plasminogen deficiency and meet
those on the forefront. Important
information coming up the balancing act
starts right now. [Music]
It's a disease that's been around for
centuries and while research and development has been ongoing
there really hasn't been much
accomplished in terms of treatment, let alone a
cure. We're talking about lupus its
mark on the body is often invisible yet
millions around the world suffer from it.
Joining me today is Dr. William Pendergraft from UNC Kidney
Center. We're also going to hear from two very
special women who are living with lupus.
Their special stories just ahead. Good morning Doctor
thanks for being here. Thank you. Doctor you know I was
getting ready for this segment
learning more about lupus and one thing
I noted was a lot of people would tell
me oh yeah Olga lupus yeah I've heard of
it and I would say well what is it and
they say I don't know exactly. Right. There are lots of people
who feel that way and lupus really is an
autoimmune condition where the immune
system instead of attacking bacteria and
viruses actually attacks our own bodies
and lots of different parts of the body
can be affected and it's more prevalent
than people think. In fact I have a
statistic here that I want to share with
my viewers the Lupus Foundation of
America estimates that 1.5 million
Americans and at least 5 million people
worldwide have a form of lupus. I know
there's different forms tell me what
they are. So lupus like I was saying is an
autoimmune condition and it really can
have multiple forms where multiple parts
of the body are affected so often people
can have muscle involvement and have
muscle pain joint involvement and joint
pain. Thast the symptoms they feel, what
else? Exactly skin involvement which can
cause skin rash and then also internal
organs can be affected and one of the
big ones that is often affected it's the
kidney. That's called lupus nephritis and
what happens the kidney just stops
working? Often it can usually what
happens is patients develop antibodies
which are proteins and those proteins
plug up into the filters of the kidney
that filter out the toxins from the
blood. We just mentioned Lupus nephritis
just recently Selena Gomez posted on
Instagram. Here it is a picture of
herself in the hospital with her best
friend who donated one of her kidneys to
Selena Gomez because she has lupus
nephritis. And quite young to develop
that does it happen too all patients doctor? Well it's a
good question, we think at least 60%
of patients with lupus can develop
lupus nephritis during their lifetime
but when we look at autopsy studies that
were done many decades ago if you
look at patients who died from lupus and
look at their kidneys you can find that
they actually have lupus nephritis
that just hasn't been clinically detected.
And since we're still talking about
lupus nephritis i want to introduce a
very special woman from Orlando. We
met with her and her husband she shared
her story of being diagnosed with lupus
then how now she has lupus nephritis.
Let's hear her story. All my joints were
just inflamed. I could barely move
it's just out of it like I was just
another person the symptoms started when
Gabrielle was 26 years old.
for a person who consider herself pretty
active it slowed me down considerably.
Gabrielle spent four days in the hospital. The
pain and anguish continued and eight
months later she was diagnosed with lupus. I
was scared because I didn't know
what that meant for my future. It was a
big question mark Gabrielle and her
husband went to a Rheumatologist she
started taking medication and then a few
years later her kidney started to fail
to see her. You know in pain not being
able to move around and do some of the
things that she's used to doing was was
really it was really strange when I do
my dialysis. I just bring it out
while she waits for a kidney donor
Gabrielle does dialysis at home every night for
10 hours. Right now dialysis is
literally my lifeline it's a big part of my
life that I didn't count on but she is
counting on a cure hopeful that despite
life's challenges the future will be
brighter. My wife is courageous,
optimistic, she is determined to not let lupus get
the best of her.
[Music] Such an amazing woman. Just
looking forward do you see that with
your patients? I do I have so many
patients just like her. Alright, stay
right there doctor cause when we come back
we're going to talk more about lupus
treatments, clinical trials and we're also
going to hear from another woman who is
living with lupus and making a
difference today. Her story coming up soon.
[Music] Welcome back we're joined by Dr.
William Pendergraft from UNC Kidney
Center. Doctor, before we talk about
treatments and clinical trials I want to
share one more story of a woman who is
living with lupus today and making a
difference. Let's take a look. And every day
she teaches her dancers to reach for
the stars, she inspires these young
girls to never give up no matter what. So
I think when I see them or I try to
understand what they're going through and
then have them understand what life could
be like. Lessons Kristin Liu knows
firsthand. At 29 she was diagnosed with lupus
and at that moment life changed
forever. This cannot be what God had intended
like this cannot be the life that I
am supposed to be living. So I
pretty much told myself that for a good
three months. But rather than stumble or fall
Kristin tackled the disease head-on. I
do everything I can to say wow I
just did not want to be here. And I did
not want to be swallowing these pills
every morning and in return I have to say how
can I make my life better in any way
possible. She started raising money for
the annual lupus walk in Miami, Florida.
She along with her entire dance unlimited
team started creating awareness one
step at a time. I walked for Miss Kristin
because I love her I want to support Miss
Kristin and I'm gonna raise awareness
and money. What would you say to your
family years later and they continue
to walk for you? I would tell them they
saved my life not the medication, not
anything else. But just your sheer spirit
alone. Doctor, such a powerful message of
hope. So let's talk about where we are
are we close? I think we're on the road
to a cure. Okay. But it's a long road and
we're not there yet. So let's talk about
where we are for patients today what
treatments are out there? It's important
to remember that there are lots of
different treatments but one of the
treatments that I think exposes most of
the patients to bad effects is corticosteroids and one of the
oral forms of corticosteroids is a
drug called prednisone which many
people have probably heard about. It's
important to remember that many of our
patients are women of childbearing age and
women of that age also don't enjoy
prednisone because it has many terrible
effects even though it may actually
treat the disease well. But they have no
choice but to take it correct? That's right
and it can cause lots of different
problems. It can make people gain weight
because acne, hair growth in places people
wouldn't enjoy. Are there currently any
clinical trials that show promise?
Currently there is one trial run by
Aurinia Pharmaceuticals in which we're
participating at UNC which uses prednisone a common drug called
cell sept and then another drug
called Vaclav sporran so these trials are
truly critical. Yes they are and what
we need is to make sure that we make
patients aware of the trials that are
available and also make the providers of
the patients aware as well. I know
you can't call it but again it seems to me
that like you said going in the right
direction and hopefully one day a cure. I
think so, hopefully in our lifetime. Thank
you so much for all the information. I do
appreciate your time. Thank you. And if
you'd like more information on Aurinia on
these clinical trials you can go to
Aurinia ln study dot com or you can go to
our Aurinia Pharma. com or check out our website
the balancing act dot com Up next, meet a brave young
lady who's been battling in an ultra
rare disease almost since birth and
finally she's seen the light at the end
of the tunnel. Stay with us.
[Music] As we continue the special
health edition of the Balacing Act were
going behind the mystery. Today the
ultra rare disease known as congenital
plasminogen deficiency. Now while few are
affected it has a profound impact on
sufferers their families and society put on the
medical map 170 years ago it is only now
that patients are seeing hope new
treatments are on the horizon. Joining me
to talk about this systemic and
potentially life-threatening illness are Dr.
Shira Robbins from Shiley Eye insitute
University of California San Diego and a
young warrior Andrea who's affected by
this disease almost since birth and her
mother Jessica a formidable plasminogen
deficiency advocate. Good morning to all
of you Doctor let me start with you and
I'm gonna be completely honest plasminogen deficiency I had
never heard of it. Well you are not alone.
Okay good, god bless. Plasminogen
deficiency is a rare potentially lethal and blinding
disease and it happens because patients
lack the enzyme called plasminogen. Mhm,
and that enzyme is supposed to take away
certain proteins. So what happens is we
get these protein build-up throughout our
body which lays down in layers which
form these thick membranes all
throughout our body and in my work at the
Shiley eye Institute I like to explain
things in terms of everyday life. So if
you were to take your front lawn and imagine
that you never we did or mowed again,
which I know you would never do all of
your healthy plants would end up
getting choked and eventually died. And
thats what happens in this disease
process. That's a great anaology thank
you for that Doctor, Jessica, Andrea, tell
me about your journey with plasminogen deficiency. When did
you notice that your daughter had
it? Jessica? Well Ive always kind of noticed
even she was born what happened she's
had many bouts of what they've
always thought was pinkeye. Exactly.
So Andrea has been treated for pinkeye
the normal regimen of what they would
give for pinkeye many times it got to a
point where it wasn't going away and we
were referred finally to the Children's
Hospital in Chicago. After many visits
back and forth between her pediatrician
and ophthalmology misdiagnosed she was finally diagnosed when
she was about almost four. Four years
later? Even then we've done so many
experimental treatments because there
wasn't anything available at that time.
What a nightmare Andrea, I know you were
quite young but do you have any recollection do you remember how
did it affect you? It affected me not
as much as it affected my family. Mhm. But
thats only because I was young and I
didn't know much of what was going on I
just knew that there was something
wrong. Doctor is this typical of those
affected with plasminogen deficiency ? It
is, it's very typical having to go
through many many doctors and often times
many years and sometimes even having many
surgeries before the proper diagnosis is
made and it only takes a simple blood
test. A simple blood test to get a diagnosis.
Let's create some awareness here today
and what are the signs and symptoms
to look out for here?
Well the signs and symptoms are created
by these membranes that I mentioned
earlier and they can happen in multiple
organ systems throughout the body
usually where we have mucous membranes
which are the wet portions of the inner
size of our bodies so when it happens in
the eyes they these membranes occur on
the inner size of our eyelids and it can
lead to scarring and even blindness. It
leads to a lot of tearing some pain and
it really changes someone's appearance
It can take away hearing when it affects
the ears, and the mouth, the patients lose
teeth and in the airwaves oftentimes
those patients have respiratory distress
and they can even die from that. It can
change the fluid channels inside of the
brain leading to swelling of the brain,
kidney failure,infertility skin rashes
and very poor wound healing so it really
affects a lot of parts of the body. So if
it affects a lot of parts of the bodies
we're talking about then probably you've
going to a pulmonologist,a Rheumatologist,an
ophthalmologist,a specialist after specialist is
that what you did. Yes yes. She sees many
specialists she goes to ENT she has her
ophthalmologist her pediatrician her
hematologist and ENT for ears nose and
throat and doctor that is so trying it
does it takes a team of doctors to not only diagnosis
but also to treat it and it can
occur usually an infancy the beginning
but it can occur for the first time in
terms of symptoms at any time in the
lifetime. So what treatment options are
available today? Well originally people
saw these membranes and they wanted to peel them
back. The doctors as well as the patients
but that really doesn't help in fact it
can make it worse because when those
membranes are peeled oftentimes they
grow back very quickly and even thicker
than before so there's been a host of
treatments which have been tried and
unfortunately none of them work great. It
makes the most sense to try and replace
what is deficient so to replace the
plasminogen in the first place right now
there is no current FSA approved plasminogen replacement therapy
but there is one which is currently
being reviewed by the FDA and so what
that means is that all the scientific
analysis is incomplete but it's in the
works and andrey has actually been a
part of that an important part of that
participating in that clinical trial. And
now that you have participated in this
clinical trial how are you feeling ? I'm
feeling way better health-wise I mean
physically, and emotionally, mentally, just
everything that is great. Oh and you look
beautiful and you sound great and it
makes me happy to know that. I know
you're probably the happiest mom today
to see her so much better but the road
has not been easy. No it hasn't, Andrea had
FM systems in class for her moderate
hearing loss, shes had preferential
seating in class because of her vision
loss so she's felt kind of singled out
her whole life, she was bullied a lot in
elementary school because her eyes were
crossed because her brain had shut down
her right eye so we've dealt with a lot
of those things. I know you have a lot of
hope and you are an advocate for Andrea
and anyone with plasminogen deficiency.
What resources re out there for families today if you can offer
any ? The biggest resource that I have is
a Facebook page that I created in
desperation to find other people for you
because when I first had Andrea diagnosed I
had nobody and I was told that there
was nobody so I'd created this
Facebook page and people have found me
it's called ligneous conjunctivitis and
plasminogen deficiency support group and
we all talk to each other moms, caregivers, patients create
awareness, we cry on each other's shoulders
share our successes. Doctor, what advice
would you give to someone out there who may be
going through this right now or may
have the symptoms and signs. Well I think
that it requires a strong and supportive
family unit but I'm very hopeful for
the future of these patients we have great
educational things happening like this
show today we have another very promising treatment right around
the corner so I'm very hopeful that
in the future patients identified with
this disease process will be able to
do the simple things that we all take
for granted like taking a deep
breath seeing your best friend listening to
your favorite music and maybe even
becoming a parent. And andrea, I want to
end with you any final words? I just want
other patients to understand that they
need to have self-confidence and they
need to not care what other people think
about them because you're you and
that's just everything. And you are amazing.
Thank you. Thank you so much for coming
today. Andrea, good luck to you
Jessica, thank you and for being such a great
mom and for talking to others about
this. Doctor, thank you for the insight. Thank you so
much its critical to identify the
symptoms early and get tested for plasminogen
deficiency. A simple blood test can make a
a significant difference in the disease
management. For more information medical
education for that matter you can go to
plasminogen dot com for patient information
go to PTs dot plasminogen dot com or
can always just go to our website for
the balancing act [Music]
[Music] You know and a special thanks
to Gabriel, Kristen, And Andrea for sharing
their personal stories. Great ladies
with so much hope so sweet and it's good to
know that there's hope for people who
are suffering from these diseases
and of course if you want to know more
about this you can head to our
Facebook page and our website and of course
you can always follow us on Twitter you
can also check out our webpage which is
thebalancingact.com thanks for watching
everyone we'll see you next time [Music]