[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]