Yearly Archives: 2013

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
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
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
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.

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
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
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,
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

My pain started four years ago, in April 2010. I distinctly remember the raw feeling in my mouth that appeared unexpectedly as I struggled to eat a meal with my family. Over the next few days, painful sores that were larger than usual mouth ulcers began to form in my mouth. I couldn’t remember ever having mouth sores, ulcers, or any mouth condition in my lifetime. The constant pain and the fact that I was finding it increasingly difficult to eat or drink made me concerned, so I booked an appointment with my general practitioner (GP).

Initially, my GP thought it could be thrush and prescribed basic antibiotics, mouth gels, and other remedies. They seemed to work for a while and eased the pain a little, but once I had completed the treatments, the sores reappeared, only more aggressively.

It was a toothache that led me to book an appointment with my dentist. She strongly suggested I see an oral consultant. At this point I was even more worried about my condition, as the sores were not going away and I was in constant pain. I began to research possible causes for my condition on the Internet, which I am not sure was a good thing to do as it made me imagine I had all sorts of possible diseases.

Near the end of June, at my first appointment with an oral consultant, I was diagnosed with possible geographic tongue. As the condition of the rest of my mouth became progressively worse, I decided to get a second opinion. The diagnosis from the second oral consultant was stomatitis vegetans, and I was prescribed metronidazole, Biotene® Gel and fluconazole. This treatment initially seemed to help, but after a while the oral lesions were widespread in my mouth, which led to my having a biopsy of my tongue.

Eventually, a biopsy confirmed I had pemphigus vulgaris (PV). Like many others, I had never heard of this condition. My oral consultant explained that PV was a rare autoimmune skin blistering disease for which there was no cure, but it was treatable. I was stunned and frustrated, but I also felt some relief that I finally knew what my disease was. The most disappointing news was that there was no cure, but I had faith in my oral consultant and the professor at Guys Hospital in London and believed that they would do everything they could to help me. I am also extremely lucky to have such a wonderful family and friends who have supported me during my suffering, and I cannot thank them enough. Unfortunately, I was unaware that worse was yet to come.

In a strange way, I seemed to be getting used to having this pain on a daily basis and it soon became the norm.

Between November 2010 and March 2011, I was prescribed a steroid mouthwash and continued to take metronidazole with some success. I also had regular reviews with my oral consultant. I continued to suffer on a regular basis with major flare-ups in my mouth and difficulty eating and sleeping. In a strange way, I seemed to be getting used to having this pain








Will-Web-headsotWelcome to the final issue of 2014. It’s been an exciting year for the IPPF and we hope 2015 brings more of the same. I’d like to welcome Todd Kuh to the IPPF Board of Directors. Todd is a PV patient from Southern California and avid cyclist.

Our 2015 Patient Conference will be in New York City at Mount Sinai Hospital, April 25-26, 2015. Dr. Annette Czernik is helping plan the event and Biofusion is sponsoring our Friday Night Conference Kickoff, April 24, 2015, with dinner and refreshments at Yankee Stadium.

You may have seen a letter in the mail from my good friend Dave Baron asking you to support the IPPF. I met his father and sister at our 2006 Annual Meeting because he couldn’t make it (his PV made travel impossible). The IPPF helped him find a doctor, educated him on treatments, and supported him every step of the way. Now in remission, Dave doesn’t want patients to suffer like he did. Join him and his family with a generous gift to the IPPF this Holiday Season at

A Quick Recap

In 2014 the IPPF celebrated our 20th Anniversary. Noelle Madsen and Patrick Dunn joined our team (and Todd with the BOD). The Patient Education Series launched revamped Patient Education Calls averaging 75 registrations each. Our Patient Conference had 125 attendees and raised over $18,000. Social media grew nearly 1,000%. 450+ patient cases were closed. We supported 8 pieces of legislation benefiting patients. A dozen local support group meetings were held. The Physician Referral List grew 5%. The Awareness Campaign (AC) formed a Dental Advisory Council. We finalized patient and physician videos. We are supporting clinical trials. The AC presented at the American Dental Association and to dental students at Indiana University, conducted focus groups, and was published in the American Dental Hygienists’ Association’s Access Magazine. The Awareness Ambassador Program launched. We unveiled our new website in August and the Awareness Campaign’s in December. And I could go on!

What’s in store for 2015?

Rare Disease Day. National Autoimmune Disease Awareness Month. Patient Conference. Patient Education Calls…and videos! New printed and downloadable information. Awareness Ambassadors. Patient Advocacy tools. New ways to support the IPPF. Dental Professional and Student Education. And much, much more!

It’s an honor to serve this wonderful community of friends and family.

My family, and the entire IPPF family, wishes you and yours a safe and Happy Holiday Season!



When you experience disease activity in your mouth it can be quite uncomfortable.  Patients may experience blisters anywhere inside the oral area: inside of cheeks, upper and underside of tongue, roof of mouth, and as far back as where the uvula is. The gums can peel as well.

Swallowing can be difficult. If this occurs for you, having anything soft is advised. For example, smoothies, yogurt, mashed potatoes, cream of wheat, etc. Avoiding citrus fruits is recommended, as that can agitate your oral lesions.

If your gums are peeling, ask your dermatologist if he/she can prescribe to you a topical corticosteroid. A ‘Magic Mouthwash’ can also be prescribed.

Try not to use alcohol-based mouthwashes as it can be uncomfortable to your lesions. Gentle toothpastes such as Sensodyne or Toms of Main can still be too harsh. If those products are irritating your lesions try going the old-fashioned route of using a paste of baking soda and water.

The use of straws is not recommended if you have flare-ups in the mouth as this can irritate them.

The IPPF suggests that you keep a food journal, so that if a flare-up occurs you can look at the list of foods you have consumed prior to the flare-up and determine which food or spice could be the culprit.

Keep your gums as healthy as possible by using a waterpik on a low speed, and use a very soft toothbrush. Regular dental checkups should be continued as normal, and if you’re going to have any dental work done advise your dermatologist. Depending on the level of activity you have and the medications you are taking, your dosage may be increased a few days prior and a few days after the procedure.  Advise your dentist of this, as well.

Remember, when you need us we are in your corner!

Mei Ling Moore – Peer Health Coach

If you’re like me you do a lot of shopping online. It’s convenient. It’s safe. And sometimes the prices just can’t be beat. To make sure I get a great deal from a reputable company, I do most of my shopping through AmazonSmile (, part of

My AmazonSmile homepage

My AmazonSmile homepage

AmazonSmile ( is a simple and automatic way for you to support the IPPF every time you shop, at no cost to you. When you shop at, you’ll find the exact same low prices, vast selection and convenient shopping experience as, with the added bonus that Amazon will donate a portion of the purchase price to the IPPF.  To shop at AmazonSmile simply go to from the web browser on your computer or mobile device. You may also want to add a bookmark to to make it even easier to return and start your shopping at AmazonSmile.

There are tens of millions of products on AmazonSmile are eligible for donations. You will see eligible products marked “Eligible for AmazonSmile donation” on their product detail pages. Recurring Subscribe-and-Save purchases and subscription renewals are not currently eligible.

The circled area lets you know the product is an AmazonSmile participating product.

The circled area lets you know the product is an AmazonSmile participating product.

It’s easy to use because you use the same account on and AmazonSmile( Your shopping cart, Wish List, wedding or baby registry, and other account settings are also the same. When you visit AmazonSmile ( for the first time you need to select the International Pemphigus Foundation to receive donations from eligible purchases before you begin shopping. Amazon will remember your selection, and then every eligible purchase you make at will result in a donation to the IPPF.