Yearly Archives: 2009

a time . . . what else could I do?

In December one of the doctors

noted that along with the

predominantly oral presentation,

I had some skin symptoms, but it

wasn’t until July 2011 as a result of

my skin condition worsening with

blisters on my scalp and face that

I was referred to a dermatologist.

In September 2011, as my dermatologist

had suspected, my

PV diagnosis was confirmed and

refined as pemphigus with predominant

mucous membrane

involvement. Unfortunately, my

dermatologist moved to another

country and I was referred to a

new dermatologist. I was now being

seen by both an oral consultant

and a dermatologist. I continued

a variety of different treatments

(Dermovate, Protopic ointment,

Elidel, Betnesol nasal spray, and

prednisolone mouth wash) and

drugs (prednisolone, azathioprine,

mycophenolate). None of them

were particularly effective.

During this time, the erosions

had spread all over my face and

nose and were particularly severe

on the top of my head. I was then,

and I still am, obese due to the

large amount of steroids. The disease

is extremely painful; so much

so it affected my sleep because I

cannot rest my head on the pillow

at night. I remember visiting

the hospital one day, when my lesions

were particularly bad and the

nurse thought I had been in a car

crash!

Every time I washed my hair

or face I would lose a piece of

skin. Every time I ate anything my

mouth would start to bleed. I can

honestly say at this point I was a

broken man with little quality of

life. I would hide the pain and discomfort

from my family. Many

times I said I was okay, but inside I

felt so depressed and despondent:

there did not seem to be any light

at the end of the tunnel. It felt like

no one could help me and there

was nowhere to go.

In an attempt to seek help and

get yet another opinion, my dermatologist

arranged for me to

see a world expert in dermatology

at Guys Hospital who determined

that my high daily steroid

requirement could not continue.

He recommended a drug called

rituximab and initiated a request

for funding via National Health

Service (NHS) of England. Unfortunately,

the funding request was

declined. I was devastated.

My wife wrote to our local member

of Parliament hoping his support

would sway NHS to reconsider

their decision, but it didn’t. My

wife and family decided that we

had no alternative but to try and

raise the money ourselves, and as

a family we began our mission.

In preparation to receive rituximab,

I was advised to start weaning

off the drugs I had taken for so

long. This had disastrous consequences

and led to a massive flare

up — the worst I have ever had. I

had to be taken into hospital as an

emergency case, where for over

four days I received three pulsed

doses of IV methylprednisoloine

and IVIG infusions.

This made an enormous improvement

to my pemphigus and

for the first time in years I felt so

happy and such a sense of relief as

the pain had largely subsided.

I was aware IVIG is meant to be

an interim treatment and a temporary

solution. Generally patients

remain lesion-free for up to 30

days. In my case only two weeks

passed. I continued to receive IVIG

every two to four weeks, and it

seemed to stop disease progression.

Because I had to be hospitalized,

my consultant submitted

additional clinical information to

the NHS explaining my new circumstances.

Sadly, this renewed

request for funding of rituximab

was declined again.

One of my family’s first fundraising

events was a 100-mile

bicycle ride. I am so proud of my

son, brothers, and friends who

took part. Everyone who donated

 

tween the winter holidays and early January is the

most busy time of the year for mental health professionals,

in part because it is difficult during these

times of reflection not to become depressed, if that

is a struggle.

It is important for those who are affected in this way

to make a special effort to practice positive thinking

(mindfulness) and reflect not only on the unpleasant,

but also pleasant memories. I’ve suggested imagining

that you’re putting negatives into a box and taping it

up; then seeing yourself locking that box into a trunk;

then imagining wrapping chains around the trunk

and leaving it for a later date. You will know where the

trunk is and how to retrieve what is inside, but you

can also choose to keep all or most of the contents

locked up for a while. At this point you may be willing

to accept offers of help from others, which is among

the healthiest of escapes.

The holidays are also a good time to reach out to

others. We’ve all heard that it is truly more satisfying

to give than to receive. Inviting lonely people to an

event or volunteering at a nursing home or other facility,

for instance, will have a positive effect on your

mood. As a way to track your progress through the

difficult holiday period, keep a record of your mood

and activities or lack of activities. As regularly as you

can, rate your mood on a 1-to-10 scale with 1 being

the worst and 10 being the best. Also track your activities

or lack of them as a record of the patterns and

both positive and negative triggers. Everyone is different,

and how you are in this world and during this

time of year will not be the same as for others. Hold

onto necessary traditions, but allow yourself to have

new experiences. You may surprise yourself.

Besides these mindfulness approaches and techniques

related to reaching out to others, there are

a number of physical solutions that may help with

dealing with SADS. Vitamin D supplementation has

been found to be useful. As well, daylight spectrum

lamps (or just special bulbs put into existing lamps)

can also help counteract the seasonal lack of natural

sunlight. Still, many people will need different medications

or increased doses of their current medications.

Checking with your primary care physician or

having an evaluation by a psychiatrist or psychologist

can be helpful and may greatly increase the quality of

your holiday season.

After eight months of oral symptoms and appointments

with doctors and dental specialists, I received

my own PV diagnosis right before Thanksgiving. One

of the first posts I read on the P/P online discussion

group forum was from someone (Hi, Skip!) who recounted

feeling lucky to swallow mashed potatoes in

his first symptom-filled year. That really helped me

to put things in perspective.

I focused on what I could do, not what I could not

do. Unless you’re having a flare or going through a

particularly rough time physically, get out and do

things. Happiness is a choice, and all humans have

the ability to be happy.

Happy holidays and my best wishes for a terrific

new year.

 

 

 

Established in 2009 by Dr. Emil Kakkis, a physician

scientist and drug developer, the EveryLife Foundation

focuses on catalyzing and accelerating the development

of drugs for rare and orphan diseases. Before

founding EveryLife, Dr. Kakkis was Chief Medical

Officer of BioMarin Pharmaceuticals and is currently

the CEO of Ultragenyx Pharmaceuticals. IPPF President

Badri Rengarajan, MD, interviewed Executive

Director Julia Jenkins.

Q: What does the EveryLife Foundation do?

A: Our organization works to create scientific-based

public policy to improve clinical development and

the regulatory process in rare diseases. The Orphan

Drug Act was passed more than 30 years ago. Yet

drugs have only been developed and approved for

five percent of them (400 diseases among the 7,000

rare diseases). [Author note: In the US, a disease that

affects fewer than 200,000 people is considered

an orphan disease, and a disease that affects fewer

than 50,000 people is considered an ultra-orphan

disease.]

Q: What is distinctive about what your organization

does relative to other rare disease organizations?

A: Our organization was created specifically to create

change and improve the drug development process.

We focus on policy issues that no other organization

is addressing.

Q: Do you have a focus on certain types of rare disease

or certain situations?

A: Our initiatives are beneficial for any rare disease.

Improvements in the drug development process will

benefit all rare diseases. However, our primary focus

is on ultra-orphan diseases, which make up 80

percent of rare diseases. Our motto is “no disease

too rare.” We also focus on diseases in which no

treatments have been developed (which are most of

them). It should be noted that 83% of diseases have

fewer than 6,000 patients, yet only 18% of orphan

drugs have been approved for ultra-orphan diseases.

We are trying to address this lopsidedness.

Q: Who are your constituents or “customers”?

A: We work with patient organizations and, in some

cases, parents and patients. We work mainly with

smaller patient organizations (so-called “kitchen table

organizations”). We also do some work with industry

and regulators, and academics. We hold workshops

to develop science behind drug development and

regulatory process for rare disease drugs.

Established in 2009 by Dr. Emil Kakkis, a physician

scientist and drug developer, the EveryLife Foundation

focuses on catalyzing and accelerating the development

of drugs for rare and orphan diseases. Before

founding EveryLife, Dr. Kakkis was Chief Medical

Officer of BioMarin Pharmaceuticals and is currently

the CEO of Ultragenyx Pharmaceuticals. IPPF President

Badri Rengarajan, MD, interviewed Executive

Director Julia Jenkins.

Q: What does the EveryLife Foundation do?

A: Our organization works to create scientific-based

public policy to improve clinical development and

the regulatory process in rare diseases. The Orphan

Drug Act was passed more than 30 years ago. Yet

drugs have only been developed and approved for

five percent of them (400 diseases among the 7,000

rare diseases). [Author note: In the US, a disease that

affects fewer than 200,000 people is considered

an orphan disease, and a disease that affects fewer

than 50,000 people is considered an ultra-orphan

disease.]

Q: What is distinctive about what your organization

does relative to other rare disease organizations?

A: Our organization was created specifically to create

change and improve the drug development process.

We focus on policy issues that no other organization

is addressing.

Q: Do you have a focus on certain types of rare disease

or certain situations?

A: Our initiatives are beneficial for any rare disease.

Improvements in the drug development process will

benefit all rare diseases. However, our primary focus

is on ultra-orphan diseases, which make up 80

percent of rare diseases. Our motto is “no disease

too rare.” We also focus on diseases in which no

treatments have been developed (which are most of

them). It should be noted that 83% of diseases have

fewer than 6,000 patients, yet only 18% of orphan

drugs have been approved for ultra-orphan diseases.

We are trying to address this lopsidedness.

Q: Who are your constituents or “customers”?

A: We work with patient organizations and, in some

cases, parents and patients. We work mainly with

smaller patient organizations (so-called “kitchen table

organizations”). We also do some work with industry

and regulators, and academics. We hold workshops

to develop science behind drug development and

regulatory process for rare disease drugs.

 

 

 

In the fall of 2002, after a month of ignoring large scabs on my nose, I was out with my family, and my brother looked directly at me and said, “You should get that looked at.” Something in his eyes, and his voice told me not to put this off any longer.

I had a dental appointment later that week. I told the dentist that I was going to see a primary care doctor, because I couldn’t get in to see a dermatologist. He strongly suggested that I see a dermatologist rather than a primary care doctor. Later I found out that he highly suspected I had pemphigus. I had disease activity on my nose, my gums, scalp, and forehead. The lesions on my nose were the worst.

Most dermatologists have busy schedules with appointment slots open 4-6 weeks from when you need one. Dr. Bernard Goffe in Seattle was my families’ long-time dermatologist, and his next available appointment was weeks out. Sometimes, you have to be assertive to be seen right away. My mom was the perfect person to do this for me. She called his office and managed to get me an appointment right away. Dr. Goffe did a biopsy that day, sent me home with a fist full of antibiotics, and sternly told me “don’t go on the Internet!” I knew he was serious, so I decided to stay away from the internet. That was a good choice, as it most often shows the worst cases.

Dr. Goffe called that same week. The diagnosis was pemphigus vulgaris. I didn’t know it at the time, how fortunate I was to have a doctor familiar enough with pemphigus to give a correct diagnosis. Unfortunately, for many patients it takes months and seeing several doctors before getting a correct diagnosis.

I wasn’t worried about my diagnoses because I didn’t even know what pemphigus was! I was very relieved it wasn’t cancer.

Dr. Goffe told me I would have to take some medications that have side effects. I remember thinking, “How bad can it be if the medications are going to help me get better?”

I started out on 120 milligrams of prednisone with some additional prescriptions: Ambien® (zolpidem) to help me sleep, and Prilosec® (omeprazole) to help with digestion and to prevent ulcers.! I remember at the time, thinking that it was the first time I’ve ever had to take pills for my pills!

As the years passed, my pemphigus has been under control with no major breakouts, but I have never been lesion free. My disease activity would wax and wane. I was taking 200 milligrams of Imuran® (azathioprine), and moderate doses of prednisone, and I have never been completely off either medications. From time to time, if I had a persistent lesion, I would get a very painful steroid injection under it. It became obvious to me that I needed to put my fears aside and seek a new treatment.

 What Finally Brought Me to Rituximab

For many years I felt my lesions were manageable. My doctor told me CellCept® (mycophenolate mofetil) or Rituxan® (rituximab) may — or may not — improve my condition. I could even get worse. There was no way to know for sure without trying one of them. I did not want to rock the boat unless I had to, so I decided to continue with my current treatment. This went on for a few more years. My doctor and I would discuss changing my treatment from time to time, but I always decided to keep it as it was.

In 2010, I met Marc Yale, a Certified Peer Health Coach with the IPPF. This relationship evolved over time and Marc eventually asked me if I would like to be a Peer Health Coach (PHC). I thought this would be a great opportunity. I could talk to other patients and help them, learn more about the diseases, and support the Foundation at the same time. I gladly accepted his invitation. The timing was perfect because I was confident my pemphigus was under control.

Over the years, I have had the opportunity to talk to hundreds of people affected by pemphigus and pemphigoid. Like many, I had never talked to, or met, anyone who had the diseases, let alone heard of them.

As a PHC I have attended several IPPF Patient Conferences. My first one in Detroit was an eye opener. I was around a room full of people with the same condition I had! It was a pretty powerful motivator for me to see many of them doing well!

Dr. Grant Anhalt, a dermatologist from John Hopkins University, gave a session at the conference on rituximab. I came home very excited and thought this is what I should do.

As time wore on, I began to think my disease activity was fine and I shouldn’t change my treatment. Whenever Rituximab was discussed with me it was for patients with very serious disease activity. I was not in serious condition, so I thought I shouldn’t pursue it.

Another year passed, and in 2012 I found myself in Boston, MA at another IPPF Patient Conference. Dr. Razzaque Ahmed, head dermatologist at Boston’s Blistering Disease Center, presented on IVIg (Intravenous immunoglobulin) therapy. History repeated itself for me: I got very excited about another treatment, but after I returned home, I decided not to pursue it.

That same year, I was assisting with an IPPF conference call featuring Dr. Ahmed. I asked him about my use of prednisone. I already knew that the long-term use of high doses of prednisone was very harmful. What I wanted to know was if a low dose over a long period was also harmful. I sensed over the phone he was surprised and concerned. He asked me, “How long have you been on prednisone?” “Ten years” I responded. He told me it was his opinion I should get off of prednisone as soon as possible; and ten years was far too long. This was a turning point for me.

I wasn’t sure how my body would handle the side effects of long-term prednisone use as I aged. No one can say for sure what my future would look like if I stayed on that course of treatment. Nor could anyone tell me definitively what the outcome and long-term risks of being treated with rituximab would be. It got to the point where the risk of trying Rituximab outweighed the risk of staying on prednisone.

My goal was to get off of prednisone, even if it meant I had to endure some disease activity. If it put me in complete remission, that would be even better!

I had changed dermatologists and was now seeing Dr. Clive Liu. Dr. Liu in Bellevue, WA. He provided great care, and was a joy to be around. He kept treating me even after my COBRA insurance expired. Dr. Liu and I discussed the conversation I had with Dr. Ahmed. We both agreed it was time to go to the next level. I had medical insurance, but Dr. Liu’s practice did not accept it. He said it was important to find an “in network” doctor while trying to get approved for Rituximab.

As a PHC, we recommend patients find a doctor who has experience treating pemphigus and pemphigoid, or who are willing to consult with someone who has. Dr. Lisa Williams in Seattle, WA, hadn’t treated very many pemphigus patients, but she was very enthusiastic and wanted to provide me with the best possible outcome. Her enthusiasm was what I needed. I called Marc Yale to tell him how excited I was about my new doctor.

She had never prescribed rituximab before, but was committed to helping me get off of prednisone. Immediately she invited me to her dermatology study group where I was one of several patients looked at by 25 dermatologists. We would email each other regularly, and she was always available to look at any studies I shared with her. I even had Marc sit in on one of my calls with her to discuss treatment options. Not only was she fine with this, but she welcomed it.

In the beginning, Dr. Williams was a little uneasy about using rituximab. Her biggest concern was once a patient receives the infusion, they’re in it for the duration. If it was a pill, the dose could be adjusted as needed.

Another year went by and I was tired of dealing with symptoms. After much discussion with Dr. Williams, and a lot of reflective thought, we decided it was time to move ahead with rituximab.. Marc helped me realize something I will never forget: I deserved to be symptom free.

Part Two
Part Three

Established in 2009 by Dr. Emil Kakkis, a physician
scientist and drug developer, the EveryLife Foundation
focuses on catalyzing and accelerating the development
of drugs for rare and orphan diseases. Before
founding EveryLife, Dr. Kakkis was Chief Medical
Officer of BioMarin Pharmaceuticals and is currently
the CEO of Ultragenyx Pharmaceuticals. IPPF President
Badri Rengarajan, MD, interviewed Executive
Director Julia Jenkins.
Q: What does the EveryLife Foundation do?
A: Our organization works to create scientific-based
public policy to improve clinical development and
the regulatory process in rare diseases. The Orphan
Drug Act was passed more than 30 years ago. Yet
drugs have only been developed and approved for
five percent of them (400 diseases among the 7,000
rare diseases). [Author note: In the US, a disease that
affects fewer than 200,000 people is considered
an orphan disease, and a disease that affects fewer
than 50,000 people is considered an ultra-orphan
disease.]
Q: What is distinctive about what your organization
does relative to other rare disease organizations?
A: Our organization was created specifically to create
change and improve the drug development process.
We focus on policy issues that no other organization
is addressing.
Q: Do you have a focus on certain types of rare disease
or certain situations?
A: Our initiatives are beneficial for any rare disease.
Improvements in the drug development process will
benefit all rare diseases. However, our primary focus
is on ultra-orphan diseases, which make up 80
percent of rare diseases. Our motto is “no disease
too rare.” We also focus on diseases in which no
treatments have been developed (which are most of
them). It should be noted that 83% of diseases have
fewer than 6,000 patients, yet only 18% of orphan
drugs have been approved for ultra-orphan diseases.
We are trying to address this lopsidedness.
Q: Who are your constituents or “customers”?
A: We work with patient organizations and, in some
cases, parents and patients. We work mainly with
smaller patient organizations (so-called “kitchen table
organizations”). We also do some work with industry
and regulators, and academics. We hold workshops
to develop science behind drug development and
regulatory process for rare disease drugs.
Q: What are some significant programs of the EveryLife
Foundation?
A: CureTheProcess: We want to accelerate biotechnology
innovation and increase the predictability of
the FDA’s regulatory review process.
Rare Disease Legislative Advocates: We support
legislative advocacy for all rare disease groups with
events such as lobby day, Capitol Hill Briefings, and a
gala. We want to empower the individual to become
an advocate by providing informational meetings,
legislative resources, advocacy tools, and special
events that support organizations and advocates
working to promote rare disease legislation.
of COL17 to test the effect of BP (human) patient-derived
antibodies. Generally, mice are a great experimental
model for studying the human immune system
since the mouse and human systems have been
found to be mechanistically very similar.
The authors genetically removed C3 from the humanized
COL17 mice and showed that indeed, they
lack the complement system. The authors also isolated
four different autoantibodies from four different
BP patients and found they vary in the degree
to which they activate the complement system. All
of the BP antibodies could induce skin detachment
(characteristic of blisters) when injected into either
the normal mice or in the complement-deficient
mice, demonstrating the complement system is likely
not at play in BP blister formation.
They next developed new antibodies that recognize
the exact same portion of COL17 and found a
correlation between the level of COL17 recognized
by the autoantibodies and blister formation. Recent
studies have shown COL17 antibodies not only recognize
and bind COL17 but also deplete it from cultured
cells. Ujiie and colleagues repeated that result show it
is complement-independent. As well, they find the
same effect of COL17 depletion in the COL17-humanized
mice – the antibodies caused blisters and
simultaneously reduced the amount of COL17.
Finally, the authors found that this was due to an
induction of the ubiquitin-proteasome system, the
machinery of cells that acts as a garbage disposal for
unwanted proteins. In this case, the COL17 autoantibodies
somehow mark the otherwise normal COL17
for destruction, possibly setting the stage for BP
symptoms and disease.
Several mechanisms may still be at play to mediate
the effects of COL17 autoantibodies generated
by BP patients (see figure). These include a degradation
system, as suggested from the current work or
COL17 may be internalized into cells upon binding of
the autoantibodies, as has been seen in studies from
other labs. It is also possible that COL17 gets internalized
first and then the intracellular proteasome
system degrades it. In any case, COL17 targeting by
BP autoantibodies is a probably occurring by a more
direct mechanism than if it involved the complement
system.
It is possible that BP shares a mechanistic basis with
other autoimmune mucocutaneous diseases such as
pemphigus vulgaris, where autoantibodies recognize
desmoglein proteins Dsg1 and Dsg3 in keratinocytes
of the epidermis. Therefore, understanding the underlying
mechanisms at play in blister formation in
the various P/P diseases will be applicable to all patients
Having a rare disease can be a
scary thing, especially, when there
are so few people in the world
who know about your disease and
what you are going through. Oftentimes
you have questions but
no one is there to answer them.
At the IPPF we are here to answer
your questions. Because the
questions we receive from patients
are often very similar, we
host calls where patients can learn
live, directly from other patients
and experts, on pemphigus and
pemphigoid (P/P) topics.
The Patient Education Series
has been designed to bring knowledge
and information to patients
all over the world regarding P/P.
The first project in the series is the
monthly Patient Education Calls.
One of the strengths of the
IPPF is our ability to reach individuals
around the world and share
expert-provided information with
those affected by P/P. To that
end, we host a monthly Patient
Education Call with a different expert
panelist each time, focusing
on a different topic.
Some months will be general
question and answer sessions
with either a physician or other
patients. Other months we focus
on specific topics such as oral care,
rituximab, IVIG, and nutrition.
It is a challenge to find
a good time to accommodate
the speaker’s schedule across the multiple
time zones of our community.
For this reason each month we
have the call at a different time
and day.
The calls are free to attend but
subject to charges according to
your phone or Voice over IP (VoIP)
provider. Each call is recorded and
key points are made available in a
PDF for you to listen to or read at
your convenience. We understand
some calls may be at inconvenient
times for some people, but we do
everything we can to ensure everyone
can still learn from what
was discussed on the call.
Registration is open on our
website for each call. We promote
the calls through our eBlasts, Facebook,
Twitter, discussion group
emails, and on RareConnect.
Hopefully, these reminders will
help you check your calendar to
see if you can attend. If you aren’t
on our eBlast mailing list please
email me at noelle@pemphigus.
org so that I can add you.
When you register for the call
you will receive an email with instructions.
In the instructions you
will be given the phone number to
call, the access code to enter, instructions
on how to ask a question,
and the etiquette for asking
a question of the panel member.
We also have some international
numbers and online/smartphone
apps to help you get connected.
You don’t have to have a question
to be a part of the call.

Many
callers listen in to learn something
new. We understand it can be difficult
to ask your question during
a live call. For this reason, we provide
an option when you register
to presubmit a question that may
be asked during the live call. If
time does not permit for all of the
presubmitted questions, we have
them answered later on and will
contact you with the results.
Our first Patient Education Call
was in May 2014 as an extension

The immune system is a complex network of
different cell types, specialized proteins called
antibodies, and cell-to-cell signaling events.
There are two basic legs of the immune system:
the innate and the adaptive immune systems.
Innate immunity takes a shotgun approach to
protect us, and is meant to attack anything that
alters tissue structure and function, or looks “foreign,”
such as a bacterial or viral invader.
The adaptive immune system represents a
more long-term defense mechanism, and prepares
the body for future challenges with invaders
by generating specialized cells called B cells
that each make a unique antibody to recognize
a single foreign protein. Unfortunately, the adaptive
immune system can make mistakes by developing
B cells that make antibodies against
“self” proteins (called autoantibodies). When this
happens, autoimmune conditions arise.
All of the autoimmune mucocutaneous blistering
diseases are caused by these mistaken
antibodies that recognize critical structural components
of skin cells. The blisters themselves are
tears in specific layers of the skin that are induced
by these antibodies. In bullous pemphigoid (BP),
blisters are caused when the dermis and epidermis
layers (specifically the lamina lucida) separate
due to the action of another set of specialized immune
cells, the neutrophils, that recognize that
an antibody-protein interaction has occurred and
come to perform their part of the adaptive immune
system’s work.
In the case of BP, the antibodies bind to a protein
called type XVII collagen (or COL17). Neutrophils
release enzymes that digest the critical supporting
structure that helps to hold the dermis
and epidermis together.
Yet another part of the immune system has
been implicated in development of autoimmune
disease. The complement system is a type of surveillance
and amplification system and is actually
part of the innate immune system, but it can be
called upon by the adaptive immune system to
carry out its job of destroying whatever it is that
the antibodies recognize.
One of the key players of the complement system
is a protein in the blood called C3. Without
it, the complement system is crippled. C3 is actually
found at the dermal-epidermal junction of
skin blistered due to BP, which is the main reason
it has been implicated in progression of BP. As
well, the complement system is activated in response
to antibody binding to COL17 in a mouse
model used to study BP. The research group of
Dr. Hideyuki Ujiie in the Department of Dermatology,
Hokkaido University Graduate School of
Medicine, have recently asked whether the complement
system is a red herring in the question
of what causes BP, guilty only by association with
the dermal-epidermal junction.
In their recent publication, Ujiie and colleagues
developed mice lacking the complement system
to find that autoantibodies against COL17 can still
induce blister formation, suggesting that the disease
progresses without complement simply by
antibody-induced depletion of COL17 from skin
cells (Journal of Immunology, www.jimmunol.
org/cgi/doi/10.4049/jimmunol.1400095). The
researchers had previously developed mice that
were “humanized” to contain the human version
December marks the official calendar start of
Winter. The good news: holidays, parties, special
foods, festivities, time to be with family and
friends.
The bad news for much for the Northern hemisphere:
snowy, cold, and blustery weather, the
shortest days of the year, time for reflection on
people we’ve loved and lost, year-end promises
made and broken. Sadly, holidays can be difficult
for many people and can get the best of even a
healthy person.Seasonal Affective Disorder, also known as
SADS, is a potentially debilitating condition that
is characterized by depressed mood, particularly
among people who live in areas that do not have
sufficient sunshine or warm weather. While the
symptoms usually improve as the season changes
and the days and hours of sunshine get longer,
for the many who experience it, it is a very difficult
time of year.
I am starting to write this article in October (in
Pittsburgh, PA), and the shorter days are already
affecting many people. Once Daylight Savings
Time goes back to Standard Time, it will be dark
by 5:00 p.m. in many regions, meaning many
people will go to work in the dark and return
home in the dark. Others will go to bed late and
sleep well into the day, allowing only a few hours
of natural sunlight on a good day!
Years ago it became clear in my own psychology
practice many patients became more depressed
during winter months to the degree they
temporarily required larger doses of antidepressant
medications. Others were able to “function”
but felt more sad, moody, or agitated, had less
energy, and had more difficulty with everyday
tasks.
Some people are so sad, irritated, and moody
that they deliberately isolate themselves during
the holidays and refuse invitations. This is probably
the single most detrimental thing you can
do. The holidays are not a time to be alone and
looking into yourself. It is important to hold onto
doable traditions.
I normally ask patients to over-plan their time
during the holidays, thereby leaving less idle time
to feel more upset or depressed. The period be-
The average pemphigus or
pemphigoid patient sees five
doctors over 10 months to obtain
a correct diagnosis. The
IPPF Awareness Campaign
strives to change this statistic
by reducing the amount of time
it takes a patient to receive a
pemphigus vulgaris (PV) or mucous
membrane pemphigoid
(MMP) diagnosis.
One way we do this is by
sharing your stories. The following
three stories highlight this
important mission by sharing
tales of awareness from a patient,
a student, and a dentist .
International Ambassador
The IPPF recently launched
its Awareness Ambassador
Program with 11 participants
attending the first Ambassador
Orientation. Carlos Andres
Campo filled out his paperwork
right away and became
the IPPF’s first Awareness Ambassador.
Carlos is also our first
international Ambassador, volunteering
all the way from Bogotá,
Colombia.
Diagnosed with PV 10 years
ago, Carlos understands the
struggle patients go through to
obtain a diagnosis. He saw five
doctors and two dentists over a
period of six months before he
was diagnosed. Carlos recognizes
the need for awareness and
is eager to contribute in whatever
ways he can. “I hope to bring
a message of hope by teaching
and training people how to
deal with this disease through
the experiences I have lived,”
he said. “I felt the need to be a
connector between the United
States and Colombia, as well as
South America, if possible.”In addition, Carlos will use
his language skills to translate
awareness materials into Spanish
and Portuguese, providing
a valuable resource to P/P patients
around the world. “If a
patient can be diagnosed at an
early stage of the illness, they
could have a better quality of
life,” he added.
Intern Educates Campus
Rendell “Dell” Doctor has
been interning with the IPPF for
several months, working closely
on the Awareness Ambassador
Program. One day Dell
informed us of an on-campus
health fair at his college, Sacramento
State. He immediately
recognized the opportunity
for awareness and proceeded
to gather brochures and pamphlets
and put together a trifold
poster on P/P.
“I may not have any connection
with PV or MMP,” said Dell. “I
don’t have any of these diseases
or know anyone who does, but I
definitely agree with the strong
need for raising awareness, especially
on such rare diseases.
The IPPF has taken a chance
on me by allowing me to intern
with them. I want to show that I
can be as passionate about the
effort as the people I work with.”
Dell also partnered with the
pre-dental society and his prehealth
professional fraternity,
Delta Epsilon Mu, to showcase
this information and get the
word out. Several students and
staff members visited his booth
to ask questions, and a few even
expressed interest in volunteering
for the Awareness Campaign.

“These people, like me, had
no prior knowledge of PV or
MMP before learning of the
IPPF,” Dell said. “It’s really great