Category Archives: Issue 82 – Fall 2015

South Florida Support Group

Nancy Corinella, SG Coordinator

On May 17th the South Florida Support Group held their second meeting. We have grown from 5 attendees to 16. Among attendees, we had those who were recently diagnosed as well as those who have had pemphigus for up to 20 years. Everyone introduced themselves and spoke about their journey to proper diagnosis. We are a small community; there were two women who had known each other from a previous support group they had attended in New York, and they now live in the same community here in Florida!
Daphna Smolka spoke about the recent IPPF Conference in New York. She made everyone aware of the matching grant that is going on right now (to the tune of $100,000!) and also touched on the importance of participating in the blood study in progress at the laboratory of Dr. Animesh Sinha [Editor’s note: Please see related story, “Donating Blood for Research,” on page 14].
There was such camaraderie in the room. Everyone was sharing information on new treatments and doctors in the area. The meeting was a huge success, and everyone left looking forward to the next meeting. Each and every person felt that they had learned something new, or at the very least made a connection with someone who understood their experiences battling this disease. ippf

If you have attended the annual IPPF meetings over the past 10-plus years, you have seen us. And even if you tried to avoid us, our team members may have hunted you down. We are the people in the white coats asking for your blood. You may have wondered as you donated, why am I doing this? What will my blood be used for? What happens with my blood and the information I provided after I leave the meeting? And why are these people asking for my relatives’ blood, too?

Why donate?
Despite recent advances in therapy, there is still no cure for pemphigus. All doctors can do for their patients at this point is to keep their immune systems at bay, in some cases more successfully than others. Clearly, more research is needed into the underlying factors of disease development and progression to really understand disease mechanisms and ultimately — hopefully — find a cure for autoimmune blistering conditions.
Our laboratory has been trying to answer questions regarding PV epidemiology, genetics, and immune function for over 15 years, and many of you have already participated in our studies. However, in order to get meaningful results using modern technologies like high-throughput screening assays and next-generation sequencing studies, large numbers of patients and healthy control subjects are needed. As you know by now, you are afflicted with an exceedingly rare condition (it is estimated that there are only thirty to forty thousand cases of pemphigus vulgaris in the United States, compared to 1.25 million Americans living with the autoimmune type of diabetes). That is why it is important for us to enroll as many patients in our studies as we can, both in our own clinics and at the IPPF annual meetings. Also, it is important to follow patients longitudinally (repeatedly over time) to investigate how disease progresses. That is why we will sometimes ask you to donate more than once throughout the course of your condition.

What is my blood used for?
If you decide to participate in our studies, we will ask you to sign a consent form and will typically draw three or four tubes of blood (that is about 20-25 ml, or less than 2 tablespoons). We will also ask you questions about your condition (disease activity, course, treatment) and your own, as well as your family’s, history of autoimmunity. You will be assigned a study identification (ID) number, and your information will be kept strictly confidential. From this point onward, your samples will only be identified by study ID. Your personal data will never be used in any communications and publications unless you instruct us to do so.
We will take your samples to our laboratory where we extract DNA for genetic and genomic studies, RNA for gene expression studies, and serum to analyze your autoantibody profiles. All samples that are not immediately used for our analyses are stored frozen in our large biorepository and can be used in future studies when needed.
While we get some data fairly quickly on your genetic susceptibility and antibody levels, most results are only meaningful if compared to data from many additional patients. It may take years for us to fully complete all follow up studies and to publish the data in the scientific literature. We do hope that, ultimately, our studies will shed some light on why you develop disease and how we can better treat it. We also hope that our scientific colleagues, both present and future, will be able to learn from our findings as much as we learn from theirs.

Why is it important for my blood relatives to donate blood, too?
PV is a multifactorial disease with a complex interaction of genes, the immune system, and the environment. While no single factor has been found that will predispose you to develop disease, it is clear that the vast majority of patients carry certain human leukocyte antigen (HLA) alleles, proteins or markers that are found on certain white blood cells that play a key role in immune and autoimmune activation. Interestingly, many family members that have not developed and never will develop disease carry the same HLA risk molecules.
Our group is very interested in exploring how family members who express the pemphigus-associated disease risk alleles (and also family members who do not express these alleles) compare to their relatives who do have the disease. We compare family members using measures such as other genes that may or may not be expressed, autoantibody levels, cytokine levels, and epidemiological data (for example, presence of other autoimmune diseases in the patient’s history). We hope that exploring these additional populations will ultimately help us understand how the immune system protects itself from developing autoimmunity.

How can I donate?
Many of you have asked the IPPF how you or your blood relatives can donate. If you are not a patient of our team or cannot meet us at the IPPF Patient Conference, the best way is to get in touch with us via email or phone using the contact information below and indicate the nature of your diagnosis and whether you or your blood relatives would like to donate blood. We will then send you a kit with the required supplies, blood drawing tubes, and instructions. You will need to find a place and a professional for the blood draw. Those of you in the medical field may know a nurse or phlebotomist; others can ask their primary physician to draw the tubes. Once the blood has been drawn, it will need to be sent back to us overnight in our prelabeled, prepaid shipping box (UPS) so that we can store the blood under the proper conditions.
We are grateful for every patient and family member who becomes a participant in our studies. We could not do our work without the commitment and support of people like you! ippf

My PV story began March 2014 and continues as of July 2015. What followed after March 2014 was a series of doctors, treatments, biopsies, and lab tests attempting to find the cause and appropriate treatment for my condition. It took five months for diagnosis and another month to locate a knowledgeable provider to establish the appropriate treatment protocol. I am hopeful that remission is in my near future.
My story with pemphigus vulgaris began just as I was turning 65 and beginning my retirement after 20 years working as an RN in an acute care hospital in Central Florida. The accumulated stress of preparing for Christmas 2013, my December retirement, and the onslaught of oak pollen season in Florida in February caused my body to revolt.
I have memories of sitting at the computer and feeling a small fluid-filled blister under my tongue. It wasn’t painful and did not burst. Eventually, though, my mouth became a haven for inflammation with large white areas. Due to my oak pollen allergy, I also suffered head congestion and drainage followed by eye irritation with redness and itching. I was taking my generic Claritin® with minimal relief. In early March 2014 I went to the walk-in clinic associated with my medical facility and was given nystatin, thinking oral thrush was upon me. With no improvement in a week, an ENT doctor prescribed a course of mouth rinses, oral antibiotics, and, thankfully, prednisone for my inflammation. A biopsy of a lesion on the inside of my lower lip came back only as negative for squamous cell cancer. Regrettably, I was yet to be tested for pemphigus. The only things I could put in my mouth were liquids. Protein smoothies were my friend. I lost almost 20 pounds — which I could afford to lose, thank goodness! As I weaned off of prednisone (50mg), the oral irritations and erosions returned.
By this point, I was also seeing a rheumatologist, who suggested that I might have Behcet’s syndrome after ruling out several other options with lab tests. We were getting close. At the end of July 2014, when I was up to 80mg of prednisone with oral improvement (able to eat roasted chicken!) my ENT doctor attempted to wean me off of the prednisone with only oral rinses for support. Well, my mouth took revenge and my extremities took notice with blisters on my back, arms, legs, groin, and chest.
I returned to the walk-in clinic. The doctor took one look at my mouth and body blisters, referred to her book, and said, “This looks like pemphigus vulgaris. I’m sending you to a dermatologist for a skin biopsy.” On August 6, 2014, the result came back positive for pemphigus. The clinic dermatologist, in the meantime, treated my skin blisters with triamcinolone cream, oral tetracycline, and oral prednisone (40mg). Since she was not familiar with PV treatment, she referred me to a dermatologist at the University of South Florida Medical School in Tampa with a scheduled appointment one month away. Unfortunately, the new doctor had to cancel the appointment because of a move to California! The best I could be offered was an appointment two weeks after the original one and with a third year resident. But by that time I was becoming anxious, and my husband and I decided to do some work on our own. My husband found the IPPF.

I placed a call to the IPPF, and the Patient Services Coordinator, Noelle, sent me a list of Central Florida doctors. Within two days of emailing one of them (Sand Lake Dermatology Center in Orlando), I had an appointment that confirmed the diagnosis of PV and was told by Dr. Allison Arthur to stay on prednisone (40mg). I was further prescribed CellCept (1500mg) to begin immediately.

Now it is the end of July 2015. I am taking CellCept 3000mg and prednisone 10mg daily. The skin blisters on my extremeties are long gone. My oral cavity remains irritated with inner cheek erosions, small blisters under my tongue, a slightly swollen and tender tongue, and with sticky saliva covering everything. I am able to eat soft, solid foods, taking small bites and chewing slowly. Of course, eating from a menu at restaurants can be tricky. I can’t bear fresh fruit, tomatoes, raw onion, or garlic. I can’t manage coffee or most common condiments.

Dr. Arthur suggested Rituxan infusion therapy as my next option in treatment. With the collaboration of my Watson Clinic dermatologist, Dr. Sharon Fairbee, I saw a clinic oncologist late in June, and my Rituxan therapy has begun after I was approved for financial assistance via the drug maker. My second infusion in late July went well. I have noticed slight improvement, noticeably on my tongue. Chewing seems much easier. The sticky saliva seems reduced. I am maintaining an upbeat attitude to keep my immune system happy! Hopefully my road back to health will continue without any traffic stops, and remission is in my very near future!
</my-byline>

Toni Addy is a retired RN and PV patient living in Lakeland, Florida, with her spouse of 44 years. She became an RN after having a “mid-life crisis” and switching careers. She was previously a school teacher. Living with PV and sharing the need for better understanding of PV diagnois and treatment is her priority.
Toni Addy, BS, MA, AS, living in Lakeland, Florida is a PV patient and retired RN. She wrote her story for herself and other PV patients and families.

As social media has grown in use and scope in recent years, several online communities and platforms have arisen for patients to share their experiences with each other. One such online platform is PatientsLikeMe.com, which was started by the brothers of a patient with amyotrophic lateral sclerosis (ALS).
The idea was for patients to share their stories and guidance with each other in the hopes of providing emotional support, care guidance, and generating hypotheses about effective treatment and care practices. The following interview was conducted with Sally Okun, who serves as Vice President, Advocacy, Policy & Patient Safety at PatientsLikeMe.

What is PatientsLikeMe? How is it different from the way patients gather information, communicate, and interact now?
PatientsLikeMe is a health information-sharing website for patients. It’s the only place online where people can share both personal stories and health data about their condition to help uncover great ideas and new knowledge. Patients can learn from each other and find answers to their questions about treatments, symptoms, and much more. By sharing health data on our site, they’re also collaborating in real time with researchers and companies to improve the understanding of their disease and accelerate the development of new treatments. It’s the kind of information sharing — or crowdsourcing — that can affect the lives of every patient and transform healthcare by putting patients at the center of the healthcare system.

How can a patient expect to benefit from joining PatientsLikeMe?

We have more than 350,000 members sharing their experiences living with more than 2,500 conditions. That makes us one of the biggest and busiest patient networks online. Our members report that the site ultimately helps them live better day to day because they can see exactly how they’re doing, connect with others for information and support, and contribute to research in their condition.

What diseases/conditions currently exist in the platform?
More than 2,500! We started ten years ago, focusing on chronic diseases and, specifically, neurodegenerative diseases. We spent the first few years building a platform that translated and improved the measures used in diseases like Amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), and Parkinson’s. We wanted to bring what we knew worked well to as many patient populations as possible and opened the site in 2011 to anyone with any disease. Today, our largest communities are in well-known conditions like fibromyalgia (with 60,000 members) and MS (with 40,000 members). But we have many members who are living with a range of rare diseases including Alkaptonuria (AKU), Idiopathic Pulmonary Fibrosis (IPF), and Mycosis Fungoides-type Cutaneous T-Cell Lymphoma (MF-CTCL).

Does the platform have any skin diseases/conditions?
Absolutely. Psoriasis, eczema, and rosacea are all well represented on PatientsLikeMe, as are various forms of melanoma. We have also recently added a number of cutaneous t-cell lymphoma patients.

• Does there have to be a pemphigus or pemphigoid section of the platform in order for pemphigus/pemphigoid patients to participate?

Any patient with any condition can sign up on PatientsLikeMe. While we’re not trying to add every single condition known, we do have a wide range of conditions represented. This reflects our practice to listen to members and add specific conditions if they are needed but not yet listed. While the platform is open to all patients, and we enable any group of patients to self-organize and combine their individual voices, we also pre-populate the site at times. We did this in 2011 when we were opening it up to all conditions and added about 300 conditions. There are currently about 20 patients who report having pemphigus on PatientsLikeMe.
• How do you decide what diseases you will add to the platform?

We don’t, our members do. Any patient with any condition can join PatientsLikeMe. There are some communities on the site that are more developed than others, and these sometimes involve customizations to specific areas of the platform to support unique aspects of a particular disease.

• Can physicians utilize this platform, or is it only for use by patients?

We’re a platform for patients, but members can download the information in their profile to share with their doctors. And of course, doctors can be patients too, and can use the site for their personal health and self-care management.

• How do you curate or control the quality of the information that patients share? What if someone writes something that is not quite correct, or someone walks away with an unintended interpretation?
We have a team of clinicians who regularly review new information coming in about new diseases or medications. If they see something incorrect, they’ll work with members to make sure they know how to add information accurately. And we regularly reassess to see if we can organize things differently to better capture information, and make modifications all the time. We also have a Community Team that moderates and regularly engages with patients in the forum. This team often provides support to members on how to best use the site for sharing information. It is important to note that we are not a medical site and do not provide medical advice.

• Is the information a patient submits to the PatientsLikeMe platform public or private?

Members are welcome to share as much or as little information as they’re comfortable with on PatientsLikeMe. Some members set up their profiles to be public. That means that the information they share, including their user name, profile photo, demographic information including age, gender, location, and bio information in the “About Me” section is public, as are their reports on symptoms, treatments, and weight. For members who do not make their profiles public, their information is only visible to other members.

• Does PatientsLikeMe sell any of the information patients contribute to the platform?

PatientsLikeMe is a research-based platform built within a social network that is freely available to patients. Our ultimate goal is to transform healthcare by including patient-generated data in the discovery and development process and to support outcomes that matter most to patients. To that end, the data that patients share about their conditions, symptoms and treatments in their profiles are de-identified and aggregated and shared with our partners to answer important questions of interest and help them develop better drugs, devices, equipment, insurance, and medical services. Revenue to support our work and the website comes from various sources including the pharmaceutical and biotechnology industry, academic and clinical research grants, and philanthropic organizations such as the Robert Wood Johnson Foundation (RWJF). We believe in transparency, and we tell our members exactly what we do (or do not do) with their data.

• Is there any cost to join?

Nope. It’s free!

• How does the PatientsLikeMe approach add to what the clinical and research communities do?

While clinical and research communities have contributed significantly to the medical literature, they often do not have a systematic way of engaging healthcare’s ultimate stakeholder — patients — in their own care. PatientsLikeMe is a scientifically oriented platform that enables patients to lend their voice to research. Together with our members, we have contributed to over 60 publications, many in prestigious peer-reviewed medical journals.

• How have findings from the platform helped efforts to research and develop new insights?

We have collaborated across a wide range of stakeholders in the healthcare space on research studies. We have published results from these studies in respected journals via open access so that the findings that be shared broadly. These findings enable patients to lend their voice to medical research. One example is our patient-initiated lithium carbonate study. Following the publication of a small Italian study that provocatively suggested the drug lithium could slow ALS, hundreds of patients started taking the drug. Using our innovative data collection system and matching algorithm, we refuted this study with a sample ten times larger than the original trial. You can find a link to this and all our publications in our comprehensive bibliography here.

• Is there a particular number of patients or amount of input needed to meaningfully help R&D efforts?

This really depends on the question and the condition. Typically, our research team works with our research partners and patients to understand the questions to be answered, how to best measure them in a patient-centric way, and then we jointly develop targets for the number of patients that need to participate or the amount of information that each member needs to contribute in order to draw meaningful conclusions.

• Do you work with disease foundations and patient advocacy organizations? What type of work do you do with them?

We’ve worked with a broad range of nonprofits and advocacy groups. Here’s a list of some of them: https://www.patientslikeme.com/about/partners. The specific nature of our collaboration varies: from serving as a non-profit’s infrastructure for enrolling and managing their member communications all the way to collaborating on research. It really depends on the specific condition and the specific nonprofit.

• How do you see the IPPF potentially working with PatientsLikeMe?
There are several ways to work together. Like our other rare diseases communities, we welcome patients to sign up, track their progress, connect with others, and contribute their information in a central place so that others can learn from their experiences.

• How can readers learn more about PatientsLikeMe?

The best way to learn about PatientsLikeMe is to visit our website at patientslikeme.com where you can explore information about on our public Community pages. You can view the profiles of members who opt to make their profiles public and see how health data is displayed in useful charts and graphs. Another great source of information is our News page http://news.patientslikeme.com/

<byline> Badri Rengarajan, MD, is the former President of the IPPF Board of Directors and resides in northern California.</byline>

In 1998 or 1999, I got an email from a woman in England named Siri Lowe. Siri had been diagnosed with PV in 1995 (and was now in remission?) and wanted to find how she could best help patients in the United Kingdom with PV. She started an organization in the UK called The PV Network.
In 2000, Siri asked me if I could come to London to meet with her and the top dermatologist working on pemphigus at the time, Dr. Martin Black. Siri felt that a visit from someone at the IPPF (at the time named the National Pemphigus Foundation, or NPF) would bring legitimacy to her venture. I traveled to London, and Siri and I met with Dr. Black. We subsequently also met with other patients with pemphigus and pemphigoid. Although the name of her organization was The PV Network, she often helped patients with pemphigoid as well. My visit and the meetings with Dr. Black and other patients were the first major steps for Siri as a representative for patients living with PV.
Siri’s interests extended not only to helping patients, but also to bringing awareness of the disease to the UK’s National Health Service. She worked with two organizations, the Skin Care Campaign and the Long-Term Medical Conditions Alliance, on a regular basis. Some of the issues she worked on with these groups were to keep dermatology services within the hospital settings. She had told me that the UK wanted to cut back on dermatological services and she had to fight for that not to happen. Siri even was invited to speak to Parliament, which she did.
Siri was not only the head of The PV Network, but she also was my friend. She could be a pretty tough cookie, but she had a very big heart and we clicked right away. We had a lot of similar interests and a lot in common. Whenever I went to London, we always took time together for fun and cultural excursions. On my last visit there, she gave my daughter her one and only ticket to an opera. Although we did not have the love for opera in common, my daughter was excited to be able to see a performance at the famed London Opera House.
In 2001, Siri contacted me to tell me she had been diagnosed with breast cancer. She had a mastectomy and reconstruction. It seemed like her recovery was permanent, but several years later, in 2006, the cancer reappeared in her other breast. She again had her cancer removed, and again we thought she was clear. Through this whole ordeal she continued as best she could her work on making sure that PV patients were heard and represented in the UK.
Two months ago, I received an email from her saying that her cancer had metastasized, spreading to her brain and lungs. She had decided she was not going to pursue any more treatment. I immediately called her and we talked for a while about her decision not to continue treatment. She sounded resolved, but still hopeful because she told me she had plans with her long time friend and companion, John, to go “on a holiday.” I thought she might be okay. But several weeks after that I received notice that Siri had passed away. It made my heart very sad.
I met her companion John when I was in London, and he was so kind to show me around and educate me on some of the interesting habits of Englanders of long ago. Siri and John were soulmates. They had met in 1972 and stayed together for all these years. At her funeral, John’s eulogy represented the Siri I knew.
“Siri was a beautiful woman. The photographs in this room attest to this. However, physical beauty is transient. Far more significant is the spirit and character of the person that animates the features. Siri had fierce intelligence, great empathic abilities, deep cultural sensibility, and a compassionate, kindly nature. These combined to give her beauty a captivating radiance. The fact that so many of her friends are here today to celebrate her life is a testament to her vitality and good nature, which always left a deep impression on those who met her.
“My task today is to pay tribute to what I believe is the great achievement in Siri’s life, which emerged out of her personal misfortune. She was diagnosed with pemphigus vulgaris in the autumn of 1995. By her determined effort and application, she set up The PV Network, which has served to provide support and information to others suffering from this disease caused by a malfunction of the auto-immune system.”
She will be missed by her friends and by me — a lot! ippf
It is widely known that the main players in pemphigus vulgaris (PV) are the desmoglein family of proteins. Desmogleins (Dsgs) are the main components of the desmosomes, which are structures that maintain adhesion among the layers of the skin. Patients with pemphigus produce antibodies against various members of the desmoglein family of proteins. Because different desmogleins are expressed in different parts of the body, the type of antibody a patient has determines which areas are disrupted, and therefore defines the clinical characteristics of their disease.
For example, Dsg3 is strongly expressed in the mucosal epithelium, while the skin has significant levels of both Dsg3 and Dsg1 (this fortuitously allows one Dsg to “cover” or compensate for loss of the other in the skin if an antibody against one of them is present). A patient with antibodies against only Dsg3 is therefore more likely to experience mucosal lesions, while a patient with antibodies against both Dsg3 and Dsg1 is likely to see both mucosal and skin lesions.
While the presence of specific anti-Dsg antibodies can often predict clinical symptoms, there are exceptions to the rule. In a recent article published in the Journal of Dermatology, a group of researchers from Tokyo examined the sera (portion of the blood containing antibodies) from three patients with cutaneous pemphigus vulgaris (cPV), a subset of PV in which antibodies against both Dsg1 and Dsg3 are present, but there are no mucosal lesions (Journal of Dermatology, http://onlinelibrary.wiley.com/doi/10.1111/1346-8138.12888/full). They found that each of these patients produced anti-Dsg3 antibodies, yet none of them had the predicted mucosal lesions. In order to better understand the mechanisms of the disease, they took a closer look at exactly what and how the antibodies were binding.
To determine what the antibodies were binding to, the researchers used a method called immunoprecipitation. Serum from the patients was allowed to mix with proteins engineered to resemble human Dsg3 and Dsg2 (both proteins from the desmoglein family), and the antibodies and the proteins they bound to were pulled out of solution. A dissociation experiment was then used to examine the ability of the Dsg3- and Dsg2-specific antibodies to cause disruption of a sheet of epithelial cells, simulating the disruption to the skin layers that these autoantibodies would cause in a patient. As a comparison, serum from patients whose pemphigus did produce mucosal lesions (mPV) was used as a control.
The researchers found that each patient had a unique antibody profile. All antibodies reacted against Dsg3, but the cPV patients’ antibodies bound to different parts of the Dsg3 protein. The dissociation experiments produced differential results as well: cPV serum caused less damage to the epithelial sheet than mPV serum did, which corresponds with the clinical observations of each subset of PV.
These results indicate that while presence of certain antibodies is a very important factor that contributes to symptoms, in some cases the specificity and activity of the antibodies has a significant role as well. The authors suggest that future studies examining the strength of binding between the antibodies and the Dsg proteins may provide additional information, and that this study may help physicians diagnose PV in which the subtype is not immediately apparent. ippf

 

When I received a recent email about the fall IPPF newsletter, it coincided with my friends from “across the pond” visiting me in Pittsburgh, Pennsylvania. Because one of them is a renowned architect, we visited Frank Lloyd Wright’s Fallingwater masterpiece about one and a half hours from Pittsburgh. Although my friend had studied and admired the incredible house, he had never personally seen it before this trip.
Fallingwater was built in the 1930s as a country retreat for a very wealthy Pittsburgh family. The structure is cantilevered in a way that was not supposed to be structurally possible and with a waterfall running through the house itself that could only seen or heard from the house’s many balconies. At the time it was being built, no one thought the house could be structurally sound. It was unlike anything being designed or built at the time. Its very uniqueness reminded me of people with pemphigus and pemphigoid and how unbelievable these disease processes are to most people.
The Fallingwater structure has not only withstood time and is still standing (with droves of visitors), but it has actually been nominated as one of the world’s great wonders. I think that those of us with rare diseases are, also, great wonders. If we had been ill with some of the P/P diseases in the 1930s, ’40’s, ’50s and ’60s we would likely not even be alive — and yet here we are — alive — and, in many cases, thriving. We are living, walking, talking marvels who have beaten what were once considered unbeatable odds. This was unimaginable only decades ago, and more and more commonplace with every decade that passes. I choose to think of us as unique, beautiful, and amazingly strong people versus diseased people. Sometimes people can see our suffering, but much of it is not apparent to the human eye.
I can only imagine the magnificence of Fallingwater in the fall, when all those beautiful, untouched trees’ leaves are so glorious as they change color and fall off the trees, in a representation of new beginnings.
As patients with special rare orphan diseases, we can consider the stages of our conditions as seasons, flowing into one another, forcing us to adapt. At the first symptoms and through diagnosis, many people face denial. Denial is, and always will be, the most-used defense mechanism humans have. It is extremely effective. Anger may follow, along with potentially depression and anxiety and finally acceptance.
As a psychologist with a special individualized approach for patients with chronic physical illnesses, I have been privileged to be on the journey with many people. The ages, genders, and educational and socioeconomic situations of the patients have not been good indicators of how well they will do in therapy and in coping with their “new normal.” Everyone’s emotional journey will be not be exactly the same, just as their physical journey will not be the same. There will be similarities along the way, and those whose diseases are in remission or more stable can definitely play very important roles in helping themselves and others who are struggling more.
My own journey has been as unique as anyone’s. Some days are more challenging than others. I have been fortunate to have supportive colleagues, most of whom still have no idea how my illnesses work or how they get triggered. If I need extra help I know whom to contact and when to contact them. If you find yourself having difficulties with denial, anger, depression, or other emotional issues, please do yourself a favor and find a professional to work with you and your own particular issues and support system.
As well, the IPPF and its Peer Health Coaches and immensely educational website and Annual Patient Meetings can be great resources as we navigate the seasons.
I know that when autumn arrives in Pennsylvania, I will be heading back to Fallingwater to see the wondrous site and its surroundings in that season. It will be a beautiful sight from many different angles, and I will have special memories to carry with me forever. I will continue to live my life and to make new memories, because that is my choice on my personal journey.

[byline] Terry Wolinsky McDonald, PhD, is a PV patient, clinical psychologist, and former IPPF Board member living in Pittsburgh, Pennsylvania. She is a regular contributor to the Quarterly newsletter in her “Psychologically Speaking” column.

For Elizabeth O’Connell, the journey to a pemphigus vulgaris (PV) diagnosis and correct treatment involved years of rotating doctors, side effects, and overwhelming anxiety about her ability to care for her son.
The blisters first appeared on Elizabeth’s face, body, and scalp in 2007. Three biopsies and a year later, she was told she had bullous pemphigoid. She was treated with oral, topical, and injected steroids, which caused advanced osteoporosis and hair loss. But Elizabeth’s blisters healed, and she was able to move on.
In the beginning of 2013, Elizabeth again became ill. This time, the symptoms started in her mouth. One dentist told her she had oral cancer. Elizabeth then saw a periodontist and received two gum grafts. Another physician implied that Elizabeth had had a mental breakdown and was somehow causing her own ears, nose, and eyes to bleed.
Over the next year, Elizabeth saw four different ENT doctors. They all suggested she was self-inflicting the wounds in her ears. Understandably, she began to lose faith in the medical community. She was exhausted from defending her sanity. “I was just so alone and defeated,” she said. “I didn’t have anyone in my corner.” As a single mother, Elizabeth worried about being able to care for her son. This was especially true as her symptoms progressed and compounded with stress and other medical issues. “My son is my world, and I hate that he saw me at the worst of the PV,” she said.
A fifth ENT turned out to be what Elizabeth called her “miracle doctor.” He was shocked at how blocked with dried blood Elizabeth’s ears had become. This blockage explained the loss of hearing and balance she was also experiencing at the time. This doctor knew about pemphigus vulgaris, and Elizabeth was finally given a correct diagnosis. “I just cried because I had found someone who could help and understand,” she said.
Like so many patients, Elizabeth’s diagnosis became a catalyst for learning everything she could about P/P. The name for her disease led her to Google, and Google led her to the IPPF website. Elizabeth participated in IPPF patient education calls and listened to the experiences of other patients. “Thanks to the IPPF, I let go of my constant fear and anxiety and learned to live and accept . . . my disease.”
Elizabeth’s ears still bleed, but she has a doctor she can trust. She has a new outlook on life. “Tasting your own blood for two years and brushing your teeth with a Q-tip is no way to live. I have peace and less anxiety.”
Elizabeth is also passionate about helping other patients avoid the kinds of complications she experienced. “I want desperately to help others with this disease and let them know they are not alone,” she said. “I can now, without hesitation, explain to a medical professional exactly what I have, and I have a list of all the current and proper medications. I owe my life to the IPPF. Without you guys, I would have never known what was actually going on with me and my body. Words cannot express my gratitude and gratefulness to all of you who have committed yourselves to helping people like me.”
Elizabeth’s story illustrates many of the reasons the IPPF Awareness Campaign was created. We too often hear from P/P patients whose delayed diagnoses have allowed for advanced progression of disease symptoms. The Awareness Campaign’s goal is to improve the quality of life of P/P patients through early diagnosis. Once diagnosed, the IPPF can arm patients with information about their diseases and connect them to broader resources. If you would like to help spread awareness of P/P, consider signing up to become an Awareness Ambassador by emailing ambassadors@pemphigus.org. ippf
Twenty-one years ago when I founded the IPPF, my main motivation was to find others in my area that had such a rare disease that I wouldn’t feel so alone. The feeling of loneliness, where no one understands what you’re experiencing can be devastatingly lonely. I remember thinking that I was going to die, and be alone since the prednisone cleared me up quickly and I looked on the surface to be normal again with no sores.
It was difficult in the early days of the foundation because there was no vast internet of information at my fingertips. Dr. Anhalt gave me his American Academy of Dermatology list of doctors so I sent letters (snail mail!) to all of the Dermatologists in Northern California hoping that they would tell their patients to contact me. Little by little I began getting some responses and calls. Once e-mail became more commonplace, even more people started contacting me. I realized how desperate people were to find answers and comfort. The Pemphgius Vulgaris Foundation, as the IPPF was originally called, was up and running. As time went by, people with P/P diseases wanted to connect.
In this technological era with the Internet giving us all the opportunity to search everything, and social media making it possible to connect with people around the globe, it is easier for people living with pemphigus and pemphigoid to connect to each other. When I was diagnosed in 1983, the only available drug for me was prednisone. There was nothing else available except gold and from what I knew about this drug, I did not want to take it. My local doctor agreed with me. With the advent of Rituxan and the other available drugs, some patients started clearing up or being stable very quickly, while others it took a bit longer – within a few years.
One interesting aspect about pemphigus and pemphigoid is that (except for CP) the diseases don’t affect any of the body’s internal workings. We don’t feel sick. We can walk. We can work. We can go about our lives and basically forget about the disease. But, there is more to these diseases then meets the eye. That’s where the IPPF comes in. P/P patients and caregivers are finding each other on social media more quickly because of the IPPF. People world-wide are finding good credible information because of the IPPF. It can often still take months and months before someone can get a good diagnosis, especially if someone lives in an area where there is little knowledge about the diseases, but once they are diagnosed and find the IPPF, they have the best care and support at their fingertips.
The IPPF’s new Awareness Campaign is currently focusing on Dentists who are usually among the first to identify and begin treating these diseases. The more these specialists know about P/P, the quicker a diagnosis can be made. The IPPF provides a forum for patients to ask questions of experts so that they get the best advice and information possible. The IPPF holds annual meetings so that new patients can hear and talk directly to the experts and to seasoned patients who know first-hand what they are dealing with. And, the IPPF does much more.
The IPPF helps patients get better. Period. When we’re well, few of us want to focus on what we have gone through. We want to just go on with our lives, move forward and see a clean bright future for ourselves. But, we have a gift too. Our gift is that we can pay it forward and help others with the same support we all had because of the IPPF. Imagine a new person getting a diagnosis and there is no IPPF to provide the kind of support and information that we all had through our recovery.
It takes a lot of dedication to run a Foundation for a rare disease that most people don’t know or care about. The staff and volunteers of the IPPF are the most dedicated people I have ever met in bringing the support we all needed and the support that new people need. They deserve all our support whether financially or by volunteering that we can give them. Despite the Internet, Facebook, and all the myriad ways we can connect, the IPPF brings order to the chaos of pemphigus and pemphigoid. It brings clarity. It brings us together when we need it. Please send what you can afford to help them continue their work. Each dollar this year will be matched. These diseases are controllable but not curable so we all need the IPPF. Pay it Forward!! Please help the IPPF.

<Janet byline>

Summer’s here and with the warm weather comes good news! A generous member of our community has issued a challenge: they will match all “new” dollars 100% up to $100,000! If you haven’t donated to the IPPF before, now is a great time to double the impact of your gift. If you donated in 2014, your 2015 gift needs to exceed that amount and the difference will be matched. If you donated this year before April 24, 2015, any additional gift you make should qualify for the match.
Read more at pemphig.us/100kchallenge_rules. You can contact Monique Rivera at (855) 4PEMPHIGUS (855.473.6744) or monique@pemphigus.org and she will be glad to assist you.
The Patient Conference in New York was a resounding success! I want to thank Dr. Annette Czernik from Mount Sinai for hosting our event. The weekend was a great time – from Friday night at Yankee Stadium sponsored by Biofusion, to Saturday’s lectures and workshops, to Sunday’s panel discussions, this was the most patient-focused conference to date. An astounding 97% of attendees said they would share conference information with their physician, and 95% said the information will improve their quality of life. Read more about this fantastic event starting on page 4, see the pictures on pages 10-11, and if you who missed the Yankees-Mets game, you can read about it on page 12.
The Awareness Campaign is making HUGE strides towards increasing P/P awareness and reducing diagnostic delays. Meet two of our Patient Educators on page 6. Dr. Terry Wolinsky McDonald has tips to keep in mind when a patient becomes the caregiver (p. 7). Michelle Atallah explains desmogleins and the role they play in P/P (p. 8). IPPF founder Janet Segall reminisces and honors the passing of our friend and P/P advocate, Siri Lowe (p. 9).
Tammy, a pemphigus vegetans patient, says the day she was diagnosed was the happiest day in her life. Find out why on page 13. Dr. Ani Sinha has collected blood samples for many years. Learn how this advances research (p. 14). If you have a P/P friendly recipe, Daphna Smolka is putting together a Cookbook (p. 16).
In closing, I would like to thank my friend and colleague, IPPF President Dr. Badri Rengarajan, for his years of dedication to the IPPF. After seven impactful years, Dr. Rengarajan is stepping down from the IPPF Board of Directors (see p. 5). In keeping with his goal to increase community engagement, he will continue to support the Foundation as a volunteer.
On behalf of the staff, coaches, medical advisers, and Board members:
Badri, thank you for leading the IPPF to a new heights and positioning us for the future. ippf