(music) On today's series Behind the
Mystery, we're talking about Cushing's syndrome, a rare
hormonal disorder often misdiagnosed.
And although it's rare, one thing is very common.
Patients and families find themselves coping with many
challenges that come with this disease.
Here with us today to share her brave story is patient
advocate, Leslie Edwin, and also joining in on the conversation
is Professor and Director of the Northwest Pituitary Center at
Oregon Health & Science University, Dr. Maria Fleseriu.
Good morning to both of you.
Good morning.
Leslie, let me start with you.
Cushing's syndrome, a lot of people have
not heard about it.
Before we talk about it - tell me what
challenges you faced before you realized you had it.
I never really had any health problems
until I had Cushing's.
Before I was diagnosed.
What started happening?
I had, I would develop a weird skin rash that
was little circles on my skin, or I would develop a lot of acne
all of sudden, which I've never had that problem, even in high
school.
And then it just got to the point where there was just
more and more things happening.
I was getting very sweaty, I was losing my energy, a lot of
weight gain, facial hair, it was just an avalanche of problems,
and then.
And all this just suddenly happening?
Very very quick, over a period of about 6
to 12 months, it all just kind of, you know, became bigger and
I went to the gynecologist because I thought I had PCOS,
polycystic ovarian syndrome, very common for woman to have.
I had all the symptoms of that but
some testing showed that it was a hormonal problem but it was
coming from the brain rather than PCOS.
So, Leslie, when did you finally realize or when were
you diagnosed with Cushing's syndrome?
When my gynecologist referred me to an
endocrinologist, he did the first of, there's urine, blood,
and saliva tests.
So, we did urine and blood that came back
very high.
So, he wanted to do them again cause he thought
maybe there was a mistake.
As soon as they came back the same
values he felt that it was out of his league and wanted me to
go to a specialist.
So, I was quickly in the hands of some
experts.
And doctor, what I'm hearing here, which I love, is
the fact that she was number 1 - proactive.
She was doing her own homework, kind of like
investigating herself, and she gets what I think was an early
diagnosis, which is really key for a rare disease like this,
correct?
That's correct.
Her case was textbook case, and
that's not always happening.
So there's other symptoms too?
Definitely there are more specific symptoms.
For example, when you gain weight, but mostly
in the belly area, and the arms and the legs are really thin.
When you have large purple stretch marks, when the patients
have uncontrolled diabetes and hypertension, despite their
regular treatment.
Sometimes they have the thin skin that you
have real easy bruising and then also young women that present
with frectors.
So, all the symptoms at the beginning are
non-specific and because of that most of the patients are not
diagnosed for years because the disease, like in her case, at
the beginning she thought she has polycystic ovarian syndrome
for example.
Right.
So until the patient becomes textbook case,
like she was, or they have a doctor that's looking into this,
or the patients are more proactive, Cushing's can be
diagnosed really late.
And, this has an influence on all the
culpabilities that the patients will have.
So the earlier the diagnosis and that's what we're
trying to do to increase awareness about the disease
itself.
And let's talk about Cushing's disease a little bit
more.
What exactly is it?
Is it hereditary?
What causes it?
Do we know?
We know.
OK.
And we know more and more over time.
Cushing's is everything that's high cortisone.
Most of the Cushing's syndrome cases are
actually due to the doctors that are giving patients cortisol as
a treatment.
Really?
Yes, and so now we're talking about
indigenous Cushing's that's part of the Cushing's syndrome that's
coming from the body and most of the times from a tumor.
So these cortisol can come from different
areas and most of it is coming from the pituitary tumors.
And what about treatment?
Is there treatment for Cushing's
syndrome?
Yes it is.
And most of these patients are actually
doing well after surgery, but the disease can come back.
If it's coming back then we have
some other treatments, medical treatment, for example with
several type of drugs that are covering different areas or
pituitary or the adrenal glands are blocking the receptor.
Sometimes we have to take the adrenals out, the source of the
cortisol or even radiation therapy.
And Leslie, you had this surgery?
I've had 2 surgeries.
My pituitary has been removed and I'm in recurrence
right now actually.
So I just finished a 6 week daily
radiation treatment and I'm on medication right now.
And I know you've done so much more after
you were diagnosed.
You're so brave, not to mention, I love
the proactive approach that you took which is so important for
patients out there today to do their own digging and find out
more.
But I want you to stay right there because when we come
back we're gonna continue the conversation with my special
guests, and you're not gonna believe what this wonderful
powerhouse of a lady has been doing to help others like her,
cope.
We'll be right back.
(music) Welcome back to a very special
Behind the Mystery.
Today we're talking about a rare hormonal
disorder known as Cushing's syndrome, which is caused by
over-exposure to cortisol.
And with me once again is patient
advocate, Leslie Edwin, along with the Director of the
Pituitary Center and Professor of Medicine and Neurological
Surgery at OHSU, Dr. Maria Fleseriu.
Welcome back ladies.
Thank you.
Doctor, let's go back real quick about, you know, not
just is it important to have that early diagnosis, recognize
the symptoms, but the proper diagnosis, correct?
That's huge.
Yes, that's really important, because you have all these
symptoms, non-specific, than later on some specific, but it's
important to have a diagnosis.
If somebody's thinking about Cushing's then a screening test
is necessary.
And there are several types of screening -
urine, salivary, cortisol, in the blood, but we have to do
screening before we move forward to confirm the diagnosis and
then later on to find out where is the disease coming from,
because we said earlier it can come from different areas.
Mostly in the pituitary but from everywhere.
And Leslie, you've certainly moved mountains, and I
want our viewers to know that because you've taken something
that was an avalanche in your life, as you described to me a
few minutes ago, and turned it into a positive.
You've created an organization helping others.
Tell me about that and why you did it.
Well, I started a local support group after I reached
remission and then several months later I found the
Cushing's Support & Research Foundation, and started working
with them.
I've traveled a bit for them.
I've written articles.
It's very rewarding to be able to help people that were in my
situation cause I couldn't find that when I was sick, and to
just be a part of that, and working with doctors like Dr.
Fleseriu.
It's very humbling.
I appreciate the opportunity and
it's nice to help people.
And, Leslie and doctor, we've come a
long way.
More needs to be done.
Some final words from you?
I wanted first to thank Leslie for
what she's doing with the organization for all the
patients with Cushing's everywhere.
Early diagnosis is key.
Since the discovery of Cushing's, now more than 100
years ago, It think we moved quite nicely along but we're not
there yet.
We have advanced in surgery.
In diagnosis we have medical treatments, several of
them approved just from the last 4 years, and several others are
in development.
So, if you invite us back in several years
- I think we're really ready to report more things good for the
Cushing's patients.
Well, when you have that great news - the
doors are open here on The Balancing Act.
So, you come back anytime.
Promise?
Thank you.
Yes.
Thank you doctor for educating us on Cushing's
syndrome and Leslie, thank you so much for coming and sharing
your personal story and for what you're doing for others out
there today.
Thank you for the opportunity to let us talk about
this on national TV.
And one final note here, Strongbridge
BioPharma is conducting Sonics, a clinical trial for patients
with endogenous Cushing's syndrome.
This is an investigational drug that has
NOT been FDA approved for any use.
Patients must fulfill certain eligibility criteria.
For more information please visit cushingssyndromestudy.com,
and for more information on Cushing's please visit CSRF.net.
Of course, you can always go to our website and that's
thebalancingact.com for more information on this segment.