Tag Archives: patient

As a NORD IAMRARE™ Registry Partner, the IPPF is proud to share that a new book, “The Power of Patients: Informing Our Understanding of Rare Diseases” was published today by the National Organization for Rare Disorders, Inc. (NORD) and Trio Health.

Do you suffer from severe limitations in your dai- ly activities because of your disease? Then you are among the 11% who are able to minimally per- form regular, daily routines. And if you suffer from any limitations in your daily activities as a result of your medication or treatment, you are among the 68% who said they have mild, moderate, or severe limitations. We know because over 700 people told us so! The IPPF Registry (www.pemphigus.org/registry) provides us with a patient’s diagnostic and treat- ment experience information. With more data, the IPPF will be in an influential  position with policy makers and insurance providers. During the 2012 Annual Meeting, IPPF President Dr. David Sirois said, “The thing that empowers an organization is information.” This simple statement captures the IPPF’s goal of advocacy and awareness: providing information to clinicians, researchers, and insurance providers to make more informed de- cisions with regards to pemphigus and pemphigoid patients. Dr. Sirois challenged attendees to join the Regis- try. Now, I am asking you to do the same: JOIN THE REGISTRY. We need your help. “That registry is vital to our organization’s posi- tion, and our next step is to publish these findings in peer-reviewed journals, such as the Journal of In- vestigative Dermatology.” Once we do that, other scientists, researchers, and clinicians can use this important data so we can change perceptions and practice to benefit patients everywhere. Yet we have not reached our magic number of 1,000. We have 721 — out of thousands of patients around the world — who stood up and said, “I want to make a difference!” YOU can change how pemphigus and pemphigoid patients are diagnosed and treated in just 15 min- utes. Remember, your personal information is NEV- ER shared with anyone for any reason. The information we have is great, but without more involvement from pemphigoid patients, IVIg users, and men in general, we are only seeing part of the picture that could change everything.

Here are some Fast Facts from the Registry:

• 73% of all P/P patients are female

• 65% of all P/P patients have PV (11% have BP) • 11% also have thyroid disease (5% have rheu- matoid arthritis)

• 70% see only a dermatologist — even though 41% have current lesions in their throat/mouth.

As you can see, the information is compelling, but if this does not reflect you, then we need your data! The data can be segmented by gender, age, and disease type (see A Look at PV from Inside the Regis- try on the previous page). The goal of 1,000 will make our Registry the largest collection of pemphigus and pemphigoid data available to researchers. Please do your part to help patients everywhere. For more information, or to participate, please visit www.pemphgius.org/registry.

Although everyday (whether I like it or not), I am reminded what it is like to live with Pemphigus and Pemphigoid, I am fortunate because I have the opportunity to share my story and build relationships.

Recently, the IPPF has welcomed two new Peer Health Coaches to our team, Mei Ling Moore (Los Angeles) and Gloria Gutierrez (Orlando). They both have been providing support for our community members for quite some time so it seemed only natural for them to volunteer as Peer Health Coaches. Both are compassionate listeners who actively participate on the IPPF website and Facebook page, communicate well with those that need support, provide relevant resources designed to improve patient/caregiver issues and make a difference in people’s lives by building long-lasting relationships.

I had the honor of seeing them in action recently at our annual Patient Conference in San Francisco and was amazed at how well they both provided confidence and hope to everyone they spoke with.

Please join me in welcoming Mei Ling and Gloria, and feel free to reach out to them for peer advice.

Remember, you always have a “Coach” in your corner!

My name is Mary Lee Jackson and I was diagnosed with PV in April 2000.  I didn’t know anyone else with this disease and I felt alone, but at least I was being treated by a great doctor in Houston, TX – Dr. Robert Jordon.

I started coming to the IPPF’s patient conferences in 2003.  I have attended every year since, except for the 2009 meeting in Los Angeles due to surgery. People ask me why I keep coming back year after year, and the answer is simple: because I learn something new each year.

Where can I get the latest updates on PV and how it affects my body? The Patient Conference. And where can I find information on the medicines that are used to treat my illness, the side effects, and what I can do about them? The Patient Conference. And where am I be able to sit around and have a conversation about these issues with another patient? Or a table full of patients? Or a room full of them? Yep, the Patient Conference!

I go so I can live a full life. Some of the doctors that attend the meetings do valuable research on pemphigus and pemphigoid, so they are very knowledgeable on how the diseases affect me and everyone else. THAT makes me feel comfortable knowing they know what they are talking about. The presentations are informative and get better each year.

But even more than just listening to them, I get a chance to ask these world-renowned expert doctors my specific questions and get answers I may not be able to get elsewhere. And patients get to take this invaluable knowledge back to their doctors and share it.

And I do more than just take away information; I try to encourage other patients. I tell them the pain they’re going through now will get better, the lesions will go away, and you will regain control of your life. I

According to a recent scientific article published by Dr. Sergei Grando (IPPF Medical Advisory Board Vice Chairperson) and some of his colleagues from the University of California, Irvine, “The ultimate goal of pemphigus research is to develop an effective treatment modality that would allow patients to achieve and maintain clinical remission without the need for systemic corticosteroids.” This represents the next great horizon in treating the disease since the use of corticosteroids was implemented in the 1950s. Prior to that, patients were not expected to live more than five years after the onset of their disease. So we’ve come a long way but goals like that of the Grando research group are lofty indeed.

To begin to develop new treatment strategies for any disease, it is important to better understand the underlying biology that causes the disease and that is associated with disease physiology. Targeting pathways with drugs is the ultimate goal and it is all the better if the drugs used are specific to these pathways as this will limit potential side-effects associated with their use. This would seem to exclude the use of steroids such as those that are a standard of treatment currently. In their current work, the groups of Dr. Grando and Dr. Ping Wang (Journal of Biological Chemistry, http://www.jbc.org/cgi/doi/10.1074/jbc.M113.472100) examine the effects of antibodies (IgGs) known to be present in PV patients and find that they deleteriously affect specific functions of the mitochondria of skin cells (keratinocytes). The mitochondria are the compartments within cells where all of the energy, in the form of ATP, is generated.

Protecting mitochondria, the authors believe, should help to alleviate the cell death that is associated with PV.
IgGs produced in PV cause keratinocytes to die due to their being “split” apart or detached from each other within the epithelial layers of the skin (fact check). However, the mechanisms by which IgGs cause this splitting and in fact, whether there are more than one type of IgG generated in PV has not been determined. Previous work from Dr. Grando’s group has contributed to a theory where various antibodies that bind to keratinocytes, including the well-described anti-desmoglein antibodies, work together to cause the cellular effects that lead to PV.
As well, previous work has implicated the mitochondria in PV. Indeed, the mitochondria that have been tested from lesions of PV patients are defective in many of their key functions. These include maintaining a balance of antioxidants and limiting the production of reactive oxygen species (ROS) that lead to untold cellular damage.
The current paper solidifies the model that multiple targets of keratinocytes (both on the surface – the desmogleins, and inside – the mitochondria) are at play in PV. As well, it suggests that multiple antibody types are involved in the end result – cell death. The antibodies that the authors focused on are called mitochondrial antibodies (MtAbs) because of their ability to enter keratinocytes and bind to mitochondrial proteins. MtAbs make up what may be the most important class of IgGs in PV patients. Removing MtAbs from the serum of PV patients makes the serum incapable of causing keratinocyte detachment. Serum is what remains of the blood after you remove all of the cells – including proteins, antibodies and small molecules from metabolism. The authors have now found that the IgGs from the serum of PV patients can cause the mitochondrial dysfunction seen in previous work.
These IgG mixtures, which contain the MtAbs, cause numerous changes in the vital functions of mitochondria. For instance, they saw an increase in the production of ROS from keratinocytes, a decline in ATP production, and changes in the mitochondrial membrane potential, a hallmark of the tidy cell death pathway called apoptosis. This is the first time scientists have shown such dramatic changes in mitochondrial functions with patient IgGs. Even more striking is that compounds that protect mitochondria could help the keratinocytes resist the adverse effects of the IgGs. These compounds, minocycline, nicotinamide (a well-known over-the-counter antioxidant supplement), and cyclosporine A have previously been used, often in combination, with beneficial effects on PV patients, but an understanding of why they are effective hasn’t been clear until now.
Since these three mitochondria-protecting drugs are already in use in some PV patients, the authors argue that optimizing their use, by determining at what levels they need to be dosed in individual patients, for starters, should make them an ideal non-steroid treatment for PV.

I remember one of the first telephone calls I received from a woman living in Northern California. It was 1995 and the Foundation was just getting started. She had been diagnosed 30 years earlier when she was 19. Over those 30 years she never had anyone to talk to about her PV. Her husband didn’t want to talk about it. She didn’t want to burden her children with it. She felt alone. She was so happy when she found us and finally was able to lift her silence about the illness.

And I heard many similar stories throughout the years.

Because this is a rare disease, finding information and support is often difficult. Back in 1995, finding any information on pemphigus/pemphigoid was next to impossible. You had only your doctor to rely on to know the answers and often the doctors didn’t even know. Since the advent of the Internet, there is a lot of information but it can be confusing as to what information is the information you need. This is why the IPPF is so important. Besides giving patients correct information, it provides help understanding the pertinent information; it provides emotional support; and it provides comfort – all of it from staff and many wonderful caring volunteers. Volunteers are a big the reason why the IPPF is still going strong after so many years.

Many of us have been in remission a long time – no disease and no drugs (or maybe just a small dose). We go about our daily business not wanting to think about PV, BP, MMP, or whichever of the diseases we’ve learned to live with. But there are many souls out there who are newly diagnosed or are going to be diagnosed, or are dealing with many issues associated with the diseases even years after diagnosis. We can help. We can give people the support they need by volunteering for the IPPF. It is important for the IPPF and for the patients to be able to connect with those of us who have “been there, done that!” Staying connected both to the IPPF and the clients can be so beneficial and mean so much to so many.
We have an unusual perspective – we’ve been where they are. We know what works and what doesn’t. Even if we are all different and our level of disease activity is so different, there are many experiences that we all have in common. Those of us in remission can be a Godsend to people in your area who need your help. With so few of us around, everyone can provide some level of expertise that will help someone get through a bad day, or a scary day, or a “hey, I had a great day today!”
One thing I’ve noticed about helping others, it helped me too. Even though I’m off all drugs, I still get an oral lesion from time to time. I think most of us in remission probably do. For a moment, maybe I worry if the PV is coming back, but I still go about my business for the day and put it out of my mind. But it always seems to be in the back of mind anyway. When I’m helping others, the last thing I think about is my PV. For some reason helping someone else deal helps me put it all in perspective.

I know that not everyone can be a volunteer … but we all can support the IPPF in one way or another. It’s an important organization for all of us whether we are in remission, have a small amount of activity, have a relative or a friend with one of the blistering diseases, or just want to make sure that no one has to suffer alone with pemphigus or pemphigoid.


The IPPF is important for all of us. Volunteer if you can. Donate when you can. We need to make sure the IPPF is here for all of us today, tomorrow and in the future until we have a cure.