rare disease

The “Voice of the Patient Report” on the Pemphigus and Pemphigoid Patient-Focused Drug Development Meeting.

To celebrate Rare Disease Day 2024, the IPPF is excited to announce the publication of Understanding the Unmet Needs of the Pemphigus & Pemphigoid Community. This “Voice of the Patient” is a summary of the Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting on Pemphigus and Pemphigoid held on January 25, 2023. The meeting brought together patients and care partners, US Food and Drug Administration (FDA) representatives, pharmaceutical companies, doctors, and researchers. The goal of the meeting was to hear from patients about what it’s like to live with rare, autoimmune bullous skin diseases so that all involved can better understand the patient experience.

The “Voice of the Patient” report is designed to help the FDA make informed decisions about potential future therapies for pemphigus and pemphigoid. It can also help pharmaceutical companies design therapies and clinical trials to address the aspects of these diseases that are most important to patients.

“Following 2023’s successful EL-PFDD meeting, the ‘Voice of the Patient Report’ is a critical next step in the IPPF’s engagement with the FDA and other decision-makers,” said IPPF Executive Director Patrick Dunn. “As we’ve learned, there are significant obstacles facing pemphigus and pemphigoid patients’ access to potential future therapies. To overcome these obstacles, we must empower the voice of a strong coalition of patients, caregivers, researchers, and clinicians so that regulatory agencies and industry partners understand what truly matters to people living with these diseases.”

This initiative was coordinated by a partnership of pemphigus and pemphigoid patient organizations, including the International Pemphigus & Pemphigoid Foundation (USA), PEM Friends (United Kingdom), Association Pemphigus Pemphigoïde France (France), and the Pemphigus/Pemphigoid Friends Association (Japan).

Read the Report

The 2021 RareVoice Awards were held on December 15, 2021 by the EveryLife Foundation for Rare Diseases. The evening celebrated rare disease advocates who make their voices heard year-round to advance policies that benefit the rare disease community.

We’re so proud of Marc Yale for his nomination in the Federal Advocacy Patient/Organization category, which honors advocates or organizations that have worked to create and pass federal legislation. And we’re thrilled to share that Hannah Yale won the 2021 RareVoice award for State Advocacy by a Teenager, which honors teens who have advocated for state or federal legislation. Congratulations, Hannah!

Hannah has been an advocate for the EveryLife Foundation and the IPPF since 2017. She has attended Rare Disease Legislative Advocate’s (RDLA) Rare Disease Week on Capitol Hill annually since 2017, and she is also a member of the Young Adult Representatives of RDLA. In 2020, Hannah served on the Funding Committee for Living in the Light’s “I Stay Home for Rare” Emergency COVID-19 Relief Fund.

Hannah is living with Ehlers-Danlos Syndrome, although she began her rare disease advocacy to support her father, Marc, and her mother (who also has a rare disorder). Hannah is currently a student at St. Mary’s College of Maryland, where she is majoring in public policy and minoring in English and philosophy.

For more information about the event and to view the full list of award recipients, visit here.

About the EveryLife Foundation for Rare Diseases

The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.

March 19, 2021
The National Organization for Rare Disorders (NORD) Rare Action Network released the following statement in response to how the American Rescue Plan may impact the rare disease community.

President Biden signed the American Rescue Plan into law on Thursday, March 11th! This law contains many important provisions to help our country through the COVID-19 crisis. Here are 5 changes the American Rescue Plan makes that matter to the rare disease community:

Increases funding and support to help Americans afford private health insurance through healthcare.gov or their state marketplace, and provides protection from paying back excess subsidies due to income changes.
Provides 100% premium support for COBRA insurance through September 30 for individuals who have lost coverage due to involuntary layoffs or reduced hours.
Provides additional federal support for vital home-and community-based services that enable many rare disease patients to live in their home states rather than moving to a facility for care.
Expands state coverage to help uninsured Americans access COVID-19 vaccines and treatment and curb the spread of the virus.
Provides new incentives for states to expand their Medicaid programs and provide health insurance to millions of low-income Americans.

The federal government and many states have also opened a special three-month enrollment period through May 15 to obtain health insurance. Check out healthcare.gov to learn more about your options.

Visit the Rare Action Network website.
Visit NORD’s website.

You may be aware of the IPPF’s advocacy efforts. Now, we need you to advocate, too. Your story is important and shows that rare disease not only affects Americans, but Americans in your district. Your story proves to congressional members that their decisions have a great impact on human life and well-being. The IPPF encourages you to participate in bringing awareness of issues and legislation that affect the rare disease community to your state and federal representatives.

This may seem like a daunting process, but the IPPF is here to help. We have tools to support you as you prepare to speak with legislative members. One of the most important things to remember is that legislators are people, too. Look for common ground—they are parents, brothers, sisters, and friends. Statistically, they almost certainly know someone with a rare or autoimmune disease.

The following suggestions can help you to successfully become an advocate:

Contact the IPPF at advocacy@pemphigus.org to express interest in advocating at a local and/or national level. We can explain issues and legislation that the IPPF currently supports.
Identify your federal lawmakers by using the online tools at senate.gov (US Senate) and www.house.gov (US House of Representatives).
Monitor the congressional calendar. District work periods are the best time for lawmakers to meet with local constituents. Take advantage of the August recess. This is a busy time when many lawmakers hope to meet with their constituents to learn about issues affecting them and what they can do to help.
Schedule an appointment by sending a formal invitation to the lawmaker’s scheduler at least three to four weeks in advance of the proposed meeting date. Check your lawmaker’s website, as they may have a formal process for submitting meeting requests.

SAMPLE EMAIL TEMPLATE

Dear [Name],

I am writing to request a district meeting with (insert elected official here). As legislators increasingly play a role in shaping health care policy that impacts my access to quality and affordable care, I welcome the opportunity to discuss with you some of my challenges and opportunities patients face when caring for themselves.

I am available to meet with you on (suggest a few dates that work for you). If those dates do not work for you, I am happy to discuss other options with your staff. I can be reached at (insert phone number) or at (insert email).

Sincerely,

[Your Name]
[Your address]

About a week later follow up with a phone call.

PHONE CALL TALKING POINTS TEMPLATE

Hello, my name is [Your Name].

I’m a patient with pemphigus/pemphigoid in [Your City, State].

I’m following up on a written invitation I sent to [Name of Elected Official] wishing to speak with him/her to discuss issues facing patients like me when trying to obtain quality and affordable healthcare and prescriptions.

I would like to schedule an opportunity for [Name of Elected Official] to visit their office in the next three to four weeks. Do you have any availability?

(If they need time to check on the schedule, give them your name, email, and phone number. Be flexible. If they are unable to meet on the date(s) you suggested, discuss other options with them.)

Ask them if there is any required paperwork you need to submit prior to the meeting.

Thank you for your time, and I look forward to meeting [Name of Elected Official] at their district office.

THE VISIT:

Understand the issues you are about to discuss. This is your story and it is important to use your experiences as compelling evidence of the issues at hand.
Share your concerns with your elected official. If available, use the handouts that the IPPF provides on the policy or regulatory issue.
Get to the point. Don’t take too long to make your pitch. Tell them who you are, the community you represent, the number of patients with our disease, what your primary concerns are, and how and why these concerns are related to a certain piece of legislation or regulatory requirement.
- This should be conveyed in about 10 minutes.
- If they ask a question and you are unsure of the answer, please say so and let them know you will find out and get back to them. The IPPF is happy to help you find the information.
Double-check your facts and figures. Make sure that you are presenting accurate information.
Thank your elected official for specific votes and efforts where they have supported legislation that helps our community.
Take a photo with the elected official and their staff. Please share it with the IPPF. We love to post photos of our community participating in advocacy efforts.

Follow up by thanking your elected official for the visit.

THANK YOU NOTE TEMPLATE

Send by email or regular mail.

Dear [Name],

Thank you for taking the time to meet with me on [insert date].

As a constituent, I appreciate the opportunity to tell you about my disease and to share my story with you to see the impact healthcare policy has on patient access to care. It was an honor to meet you.

[Insert main points from the meeting as a way to reiterate your position.]

Please do not hesitate to contact me at [your phone or email address] if you have any further questions regarding [insert legislation or regulation name]. I welcome the opportunity to serve as a resource for you on these important issues.

Sincerely,

[Your Name]

Follow up with IPPF staff. Share any action items resulting from the meeting with the IPPF advocacy team by phone or email.

We hope this helpful guide encourages you to get you involved in advocating for our community and for those who cannot advocate for themselves. We are always looking for new ways to advocate for the IPPF community and would appreciate any feedback.

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. The book features natural history data collected from the IPPF, a member of NORD’s IAMRARE registry community.

The Natural History Study is an online data system that collects, stores, and retrieves patient data for analysis in research studies. It is designed to help the medical and research community understand illness trends, treatment outcomes, disease burden, and some important demographic information about patient age and gender.

By sharing stories, celebrating community-driven teamwork, and exhibiting data from the registry community, The Power of Patients illustrates the promise and potential of natural history studies and highlights the vital importance of patient participation.

“At NORD, our priority is to create real change and accelerate progress for the rare disease community. By working at the intersection of research, policy, and education, we demonstrate the power and possibility of patient-reported, real-world evidence,” said Peter L. Saltonstall, President and CEO of NORD. “Created in collaboration with Trio Health, The Power of Patients amplifies the experiences of individuals and families living with rare diseases, and demonstrates the importance of registries and natural history data in helping to shape the way the rare disease landscape is navigated by patients and their physicians.”

Continue reading the full press release to learn more about the new book and the stories and data collected.

In February 2017, the IPPF joined the Friends of the National Institute of Dental and Craniofacial Research (FNIDCR) Patient Advocacy Council (PAC). This group is made up of patient advocacy organizations whose patient members’ conditions and diseases include an oral component and have a stake in research supported by the NIDCR. The group is supported by the American Association for Dental Research (AADR).

The AADR and FNIDCR will hold an Advocacy Day on Capitol Hill on Tuesday, February 27. Members and patient advocates will meet with members of Congress and Hill staff to advocate for dental, oral, and craniofacial research. They will emphasize how important investments in biomedical research and oral health programs are in impacting the people in their home states and beyond.

The IPPF had the pleasure of interviewing Lindsey Horan, AADR’s Assistant Director of Government Affairs about their 2018 Advocacy Day and important legislative issues.

IPPF: What is your goal for your advocacy day? What do you hope to achieve?
Lindsey Horan (LH): Our overarching goal for Advocacy Day is to educate on and raise awareness for dental, oral, and craniofacial research with members of Congress and congressional staff.

As oral research advocates and stakeholders, we know that oral health is integral to overall health, but it’s critical to stress that to the policymakers who are weighing competing priorities and are responsible for divvying up federal funds across government agencies and programs. The Hill visits our members conduct on Advocacy Day have the opportunity to demonstrate the far-reaching nature of oral health research and, most importantly, to share their personal stories—whether it is the story of a patient whose life has been impacted by an oral disease or condition, or a researcher whose work is positively shaping the trajectory of dental and oral care we provide in this country.

IPPF: Which legislative issues are of priority for the AADR/FNIDCR this year? Why are they important?
LH: Our legislative priorities for AADR and the Friends of NIDCR will be consistent with the priorities from 2017, and they largely relate to securing the highest possible federal funding for oral research and oral health programs. While this certainly includes the National Institutes of Health and the National Institute of Dental and Craniofacial Research (NIDCR), we also champion agencies whose work touches oral research in some capacity, such as the Centers for Disease Control and Prevention and its National Center for Health Statistics and the Agency for Healthcare Research and Quality.

Heavily focusing our legislative portfolio on appropriations is reflective of the fiscal and political environment in which we’re operating. Congress has to make difficult decisions about how to tackle a mounting federal debt and deficit, and we want to ensure that shortsighted cuts aren’t made in the name of savings. In the absence of our community speaking out—loudly—about these federal agencies and programs, lawmakers will see a win-win scenario: being able to cut funding with little to no pushback.

IPPF: What can those who are unable to attend Advocacy Day in DC do to advocate locally?
LH: There is so much that can be done locally—even from home—to champion oral research throughout the year.

First, it’s important to remember that members of Congress are not in Washington, DC, year round. They regularly return home to meet with their constituents, and these visits are great opportunities for people to voice their priorities or concerns. Sign up for your elected officials’ email listservs to learn about upcoming town halls or other events where you might have an opportunity to speak with them. At the end of the day, constituents are the people members of Congress want to hear from most!

Additionally, don’t underestimate the power of social media. Virtually all Senators and Representatives are active on Twitter, Facebook, and other social media platforms—and they pay attention to them. While seemingly inconsequential, research has shown that it doesn’t take many Tweets on a given topic for staff to pay attention, especially if the Tweets come from constituents (and constituents should identify themselves as such in their Tweets).

IPPF: Do you have advocacy alerts or ways to stay updated throughout the year on important legislative issues?
LH: Absolutely. We want to make sure our community knows how developments at the federal level may impact our field and the research enterprise more broadly.

The first resource I would recommend is our Government Affairs & Science Policy Blog (http://ga.dentalresearchblog.org), which is regularly updated with advocacy and policy news. And to make it easy for readers, there is an option to subscribe to the blog, so new posts will come directly to your email. We also post information to our Twitter account (@DentalResearch). These are great places to learn about any new action alerts or opportunities for engagement.

There are also a number of opportunities available through AADR membership (http://www.iadr.org/AADR/Join-Renew/Join-Us) for those who want to further engage, such as the potential opportunity to serve on committees like our Government Affairs Committee and joining us on Capitol Hill for Advocacy Day.

IPPF: Is there anything else you’d like to share?
LH: I know people often shy away from advocacy for a variety of reasons—they worry about bringing politics into the workplace, they are put off by the term, or they don’t see the point. To this I would say:

As an American citizen, you have a right to petition your government as outlined in the Constitution. It’s correct that many employers do have rules related to advocacy, but they do not prohibit you as an individual citizen from being able to advocate. To clarify what is and is not allowed, talk to the government or public affairs staff at your organization or institution.
For those who don’t quite understand or are put off by the term “advocacy,” think of it as education. When you reach out to members of Congress, you are sharing your story, explaining your work, or demonstrating how a program is making a difference in your community. Members of Congress and congressional staff are grappling with information overload. Meeting with them provides an opportunity to share what you know so that they might better understand the issue and how it fits into their legislative priorities.
Finally, advocacy does make a difference. While a phone call, a Tweet, or an email seem too small to be significant, they add up—and we have seen this demonstrated time and again. Just recently, a provision in the House’s first version of the tax bill calling to tax graduate students’ tuition waivers as income received so much pushback from the community that it was removed in the final legislation. Speaking up and speaking out matter!

A huge thank you to Lindsey Horan for taking the time to answer our questions!

IPPF Awareness Ambassador Coordinator, Bryon Scott, will attend Advocacy Day on Capitol Hill this year. We look forward to updating you on his experience and the outcome of his advocacy.

The term stress as it is used today was coined by Hans Selye in 1936, who defined it as “the nonspecific response of the body to any demand for change,” which means that when our senses notice any physical or emotional change, our body will respond in either a positive or negative way. If the changes are persistently negative, the outcomes have been noted to cause physical problems such as heart disease, strokes, and even autoimmune disease.

For pemphigus and pemphigoid patients, there are several events that can trigger stress and exacerbate disease activity, even simply being diagnosed with a rare disease. The time it takes to be diagnosed, the medication itself, and how it all affects our families and friends can trigger stress and depression. So the question then becomes “What can we do to normalize our responses to all these stimuli so we can decrease stress, change the course of depression and in turn maybe reduce disease activities?”

Sometimes the answer is medication. If the depression takes over, using medication for a short or long term might be necessary to get back to a calmer, less stressful place. But if the idea of medication doesn’t work for you, there are several other choices to help alleviate both stress and depression.

Therapy

Sometimes just having someone outside your circle of friends and family can make a huge difference in helping to see life differently. One of the most respected tools in therapy is called Cognitive Behavior Therapy (CBT). This type of therapy can help you learn how to deal with your thoughts and can take control of how you interpret and deal with certain stressors. Along with CBT, there is Dialectical Behavior Therapy (DBT) which helps to change negative thinking patterns and work for a more positive change in thinking.

Meditation

Meditation is an effective tool for giving the body and mind a chance to rest. It can possibly help with anxiety, high blood pressure, weight control, and sleep. There are several ways for a person to experience meditation. Prayer is a form of meditation, as is repeating a phrase (a Mantra) as they do in Transcendental Meditation, or practicing mindfulness – being in the here and now.

Hypnotherapy

Hypnotherapy starts with placing a person in a meditative state and uses different tools to bring in positive thoughts through affirmations. When a person is in a hypnotic state the mind becomes open to positive suggestions that can be retained and remembered. It is a myth that someone using hypnosis can be influenced to do things they would never do. In reality a person would never do anything against their beliefs. The person is always aware of the process while it is happening.

Acupuncture

Acupuncture is a great way to relieve stress which in turn can help relieve depression. Acupuncture uses specific types of needles in a quiet, relaxing environment. This type of stress reduction was developed in China over 2500 years ago and is still relevant today. Acupuncture has also been shown to help after surgeries and chemotherapy.

Diet

Healthy eating has also been attributed to helping a person relieve stress and depression and has anecdotally helped with lessening disease activity. Certain foods have been known to make a person feel good for a few moments, but then that good feeling goes away quickly, possibly causing depression. Often the medication for our disease contributes to increased appetite, but being aware and finding other methods to help reduce the cravings can be very beneficial.

These are just some of the ways to help reduce stress and in turn help reduce depression. Each individual has their own way of living with and dealing with stress, depression, and how that might affect disease.

Although there has been a huge public outcry over the cost of prescription drugs, there has been little public discussion about the need for innovation for patients who don’t yet have an effective therapy. It is estimated that 1 in 10 Americans suffer from a rare disease, and only 5% of rare diseases have a treatment approved by the Food and Drug Administration (FDA).

However, the toll of rare diseases goes beyond patients, with potentially devastating impacts on families and other loved ones. The average pemphigus and pemphigoid patient sees 5 doctors over 10 months in search of a diagnosis, often delaying the start of treatment. Many rare disease patients wait an average of seven years before getting an accurate diagnosis. Even if a patient obtains an accurate diagnosis, chances are there are no FDA-approved treatment options. The small size of patient populations makes the massive investment needed for lengthy research and development needed to create rare disease therapies unattractive to most pharmaceutical companies.

I was diagnosed in 2007 with cicatricial pemphigoid, a rare autoimmune blistering skin disease. Like others with a rare disease, I experienced delays in diagnosis and difficulty finding knowledgeable physicians. Eventually, I lost vision in one eye from the disease. The pain associated with my disease was severe, and the list of complications extensive. Although my disease can be treated, there are still no FDA approved treatments and no cure. No disease should be too rare for a cure.

The good news is that Congress can do something to help. The 21^st Century Cures Act, which passed the House of Representatives with broad bipartisan support (a rarity in the current political environment), could provide billions in new funding for research at the National Institutes of Health, the nation’s premier biomedical research institution, along with needed funding to enhance the review of new medicines by FDA. What’s more, the legislation has crucial incentives, such as the Priority Review Voucher program to encourage the private sector to invest in developing new, life-saving therapies for pediatric patients, and the OPEN ACT, which would encourage companies to repurpose existing medicines for rare diseases like ours. This could potentially bring hundreds of new treatments to patients more quickly than traditional drug development. In short, this bill could be a game-changer for patients with both rare and common diseases.

But Congress has been debating this legislation for nearly two years and has yet to send it to the President’s desk for signature. If Congress fails to reach an agreement by the end of the year, all of the work on this legislation and the hope that it represents to patients will be lost. Every day, patients are losing ground to diseases and continue to go undiagnosed or untreated.

The IPPF urges you to contact your representatives and senators today to prioritize the 21^st Century Cures Act on behalf of pemphigus and pemphigoid patients and their families across the country. Time is running out. and we cannot afford to wait any longer.

“I truly felt that our representatives were listening closely when I told them my story of being diagnosed with and treated for pemphigus vulgaris.” On Thursday, September 22, I joined 350 advocates on Capitol Hill for the Rally for Medical Research. Our main goal was to encourage members of Congress to continue robust, sustained, and predictable funding for the National Institutes of Health (NIH). Because I live in Washington, DC, a city without a vote in Congress, I was assigned to the group from Montana.

Along with a University of Montana biologist and a cancer research advocate, I met with Sens. Jon Tester and Steve Daines, and Rep. Ryan Zinke. All three members were supportive of our efforts to maintain NIH funding, especially Sen. Tester, who seemed to have a vested interest in medical research. In addition to our general request for NIH funding, I stressed the importance of cutting edge research on rare diseases and emphasized the significance of the Open Act, which incentivizes pharmaceutical companies to make treatments available off-label.

Of my three visits to Capitol Hill as a rare disease advocate, this is the first time I met with the members themselves rather than only their staff. It was a humbling experience but also a powerful one. I truly felt that our representatives were listening closely when I told them my story of being diagnosed with and treated for pemphigus vulgaris. Meeting our lawmakers in person and telling our stories makes all the difference!

The purpose of advocating in Washington, DC is to spread awareness and lobby for favorable legislation that affects the entire IPPF community. At Rare Disease Week on Capitol Hill 2016, we had 7 members of the IPPF community advocating for:

HR 971/S1421 (OPENACT): legislation that will repurpose “off label” drugs for rare disease indications that are not currently covered by the FDA
HR 605/S275 (Medicare Home Infusion Act): legislation that will make it easier for Medicare patients to get infusions done in their homes
HR 1600 (Patients Access to Treatment Act): legislation that would cap the amount that insurance carriers can charge patients for more expensive medications
S 2030 (Advancing Targeted Therapies Act): legislation that would allow information learned in clinical trials to be used in the development of new therapies
All Congressional Members to join the Rare Disease Caucus

From the Advocates:

Sarah Gordon

This was my second time advocating on behalf of the pemphigus and pemphigoid community, having visited Capitol Hill with Marc and Kate in the fall. I expected it to be quite similar, and in many respects it was. However, being part of a larger group of rare disease advocates participating in Rare Disease Week made a big difference. Hearing from two congressmen and the newly appointed head of the FDA at the lobby day breakfast emphasized the importance of bringing together advocates from across the rare disease spectrum – not only the power in numbers but also the variety of knowledge and experiences that we could bring to the table.

Mary Lee Jackson

When I received an email about going to Capitol Hill, I got excited and thought it will be easy. But I was wrong it was hard work. I hadn’t walked so much in all of my life. I felt good about what was done on Capitol Hill. It was worth all I went through to get the word out about rare diseases.

Debra Levinson

There’s plenty we can do this election year: Consider writing letters and making phone calls to bolster these pieces of legislation; email your member of Congress, which is made easy utilizing the automatic draft letters on rareadvocates.org; or take advantage of in-district lobby day opportunities to build relationships with your members of Congress. I am hopeful now with so much support we can help ourselves heal. We are the voices of the rare disease community with a common role.

Paula Halicki

Not only was I representing myself, the IPPF, and the pemphigus/pemphigoid community, but I was also representing a lot of other people with healthcare issues who could not represent themselves. And quite a few who never will. Plus I told my story, and a Congressman listened.

Doris Chenier

We may have a rare disease but no one will know about it unless we use our voice to speak to people that can make a change.

Angélica N. García Romero

I had great meetings with the staff of the representatives and felt very accomplished. But to top it all, when I was taking my flight back to Puerto Rico, my representative was on the plane too! When all the turbulence stopped, I went up to him, and had the meeting right there.

Momentum for the Orphan Product Extensions Now, Accelerating Cures and Treatments Act (OPEN ACT) has stalled in the Senate.

In November 2014, I used the chemotherapy drug Rituxan off-label for my rare disease, Immune Thrombocytopenia (ITP). The decision was made after careful consideration of all the possible outcomes. I was desperate for relief since ITP causes internal bleeding that can be fatal. This thought stayed in the back of my mind as I watched my platelets drop and my bleeding episodes increase in severity.

Ultimately, I decided it was worth a shot to see if Rituxan could put my rare disease in remission. When it was successful, I was thrilled and shared my success with the rest of the ITP community. To my surprise, many ITP patients told me they did not have access to Rituxan because of the off-label status. When I first heard about the Orphan Product Extensions Now, Accelerating Cures and Treatments Act (OPEN ACT), I was thrilled! Finally, legislation was presented that would allow rare disease patients to have access to FDA approved drugs that are deemed safe and effective for other conditions.

During Rare Disease Week last year, I discussed my story with Congressman Gus Bilirakis of Florida, who introduced the OPEN ACT to the Energy and Commerce Committee. Congressman Bilirakis — a huge champion for patients — and his staff worked hard to have the OPEN ACT included in the 21st Century Cures Act. The bill passed the House in July 2015 by an overwhelming vote of 344-77. The momentum has stalled in the Senate though, so now patients must act. Recently, the Senate Health, Education, Labor and Pensions Committee (HELP), listed bills that were a priority for their version of 21st Century Cures, and for some reason omitted the OPEN ACT. I will be on the Hill for Rare Disease Week this year to push for the inclusion of the OPEN ACT on the HELP Committee’s priority agenda.

For the rare disease community and patients as a whole, the OPEN ACT will provide critically needed treatment options for underserved populations. It will help fill in the gaps between diseases with limited or no treatment options and new drugs under development. I encourage all patients, regardless of their illness to reach out to their Senators and express support for the bill. Repurposing FDA approved drugs will create new data that provides the foundation for further research. Ultimately, the OPEN ACT can unlock new treatments and potential cures for rare diseases. I am living proof that repurposing drugs can save lives. Looking back, the decision to use Rituxan paid off more than I could ever imagine.

I encourage everyone to join the conversation on social media using the hashtag #CuresNow on Twitter, Facebook and Instagram. Many of our representatives are participating with us. This is our time to show lawmakers that we may be rare when identified by specific disease or diagnosis, but together we are a movement!

The First Amendment to the United States Constitution guarantees the right of all citizens to communicate with their elected officials. So you might be asking yourself, “Does my Congressional Representative really care what I think”? Well, the answer is YES!

A recent study showed that if a Member of Congress has not arrived at a firm decision on an issue that a constituent contacting their Washington D.C. office will influence their decision. The study illustrated the degree of influence that the following types of communication will have on a congress person’s decision: phone calls 72% influence, individualized postal letters 70% influence, and individual email messages 69% influence.[/vc_column_text][vc_custom_heading text=”The study illustrated the degree of influence that the following types of communication will have on a congress person’s decision: phone calls 72% influence, individualized postal letters 70% influence, and individual email messages 69% influence.”

Writing your Congressional Member may seem like a small thing, but they need to know that their constituents are paying attention. They want to hear about what issues are important to you. When writing your letter/email to your Congressional Member, you may want to share your story with them and how it relates to your issue. Personalizing your letter/email will grab their attention and give them more reason to consider your issue. It is recommended that you keep your letter/email simple and no more than three paragraphs. Provide facts about the issue you are addressing and try to be as specific as possible. Be sure that you cite the name and number of the Bill or Legislation that you are asking them to support. If they are already a supporter of the Bill, thank them.

Don’t forget to provide your contact information so they can respond directly to you. Remember, your voice can go a long way towards helping your Congressional Member know where the public stands on your issue. The more you correspond with your representative, the more it will help you build a long-lasting relationship with him or her. That relationship is not only your right as a citizen, but a privilege you should exercise.

Bill Starrels (l), Marc Yale (c), and Sarah Gordon (r) outside the Washington, DC office of Congresswoman Julia Brownley of California.

When the email landed in my inbox last month asking for pemphigus and pemphigoid patients and caregivers to advocate on Capitol Hill, I didn’t hesitate. I live just miles from the Hill, and it was time to share my story and encourage lawmakers to take a stance on research and treatment for rare diseases like pemphigus and pemphigoid.

When my pemphigus was diagnosed eight years ago, I had just given birth to my first son. It was a difficult time, combining the exhaustion and stress of new motherhood with the pain, confusion, and anxiety of an undiagnosed illness. Once I was diagnosed, the first line of treatment, Cellcept, caused neutropenia, a white blood cell condition making me susceptible to infection. So with much trepidation I used the off-label treatment, Rituxan. In retrospect, I see that despite the challenges of my illness and treatment, I was incredibly fortunate. I saw Dr. Grant Anhalt, who was a true lifesaver, and the Rituxan worked beautifully! I have now been in remission for nearly five years. Most remarkably, I was able to give birth to another healthy and happy boy four years after the first. Yes, when I received the email last month asking for advocates on the Hill, I knew it was time. And what a time it was.

Before heading up to the Hill, I discussed the various bills before the House and Senate with Marc Yale, Certified Peer Health Coach at the IPPF. Unfamiliar with congressional practices and language, I was still easily able to grasp the reasons these bills were so crucial for people with rare diseases like pemphigus and pemphigoid. They dealt with incentivizing drug companies to repurposes medications like Rituxan to make them more accessible; they defined the terms of telehealth, a crucial first step toward allowing highly specialized physicians to treat patients remotely; they aimed to maintain funding for vital NIH research on rare disease treatments. Through my conversations with Marc, I found that my personal story could speak directly to the importance of several of these bills.

On October 20, I met Marc, Kate Frantz, Awareness Program Manager at the IPPF, and Bill Starrels, whose wife has pemphigus, at the Capitol. Entering the congressional office, I had the uneasy sensation of being on an episode of the HBO comedy Veep. But I quickly found that the staffers with whom we met were not snarky and self-involved, but rather knowledgeable, compassionate, and devoted to their work. We met with staffers from the offices of Julia Brownley, Doris Matsui, Barbara Boxer, and Dianne Feinstein from California, as well as my own representative, Eleanor Holmes Norton, of Washington, DC. Speaking to them about the bills at hand through the lens of my personal experience made me feel at once vulnerable—presenting myself for the first time as a person with a rare disease—and empowered—taking the opportunity to advocate on behalf of myself and so many others. I learned a tremendous amount about how Congress functions and also quite a bit about my own potential as an advocate.

In the end, I was correct: the time was right for me to share my story with lawmakers and become an advocate for persons with rare diseases such as pemphigus. Keep an eye on your inbox for messages from Mark and Kate. You might just find that soon the time will be right for you as well.

The IPPF strives to do many things for the pemphigus and pemphigoid community, but our three biggest goals are to raise awareness, create a support network, and to increase education. One of the biggest tools that we have at our disposal to accomplish those goals is social media.

Social media is one of those funny things in our society which people seem to either love or hate. For a rare disease non-profit organization such as IPPF, it is a really important tool, and community involvement is critical. The IPPF is committed to keeping our costs low, in order to put the most funds possible into programs which benefit our patient community. Budget Management is a high priority to us. A free platform that allows our members to share information and interact with our community is a highly desired solution.

“What is #healourskin?” We tell them to search on social media and they soon discover pemphigus and pemphigoid. More importantly, they see the faces of the people that it affects, hear their stories, and understand the struggles.”

With social media, we can easily reach a global audience and provide information for patient education, a support group meeting, and new postings on our website. We can inform about upcoming clinical trials, important rare disease legislation, and more by posting on social media. We can also connect members and non-members affected by P/P with each other through social media, and that may be the most important aspect of all.

The other funny thing about social media is the use of the hashtag. For some of you reading this article, the hashtag is known as the pound sign. For others, its only use has been as “the hashtag”. Everyone seems to have their own take on the hashtag; people either love it or hate the use of the hashtag. Many social media users add hashtags their comments to be funny or to add to the context of their post. However, the hashtag was created to bring others into a singular conversation, inviting them to engage in the dialog.

For non-profit organizations like IPPF, using hashtag brings awareness to our cause. It encourages members and non-members alike to talk and question, to share experiences, and to support each other. Social media helps the IPPF meet our goals of patient and doctor networking, supporting and coaching each other, and bringing awareness to the general public. Be a part of the larger conversation.

Help the IPPF support pemphigus and pemphigoid patients and bring awareness to the public. If you are posting on Facebook, Twitter, and/or Instagram, use hashtags like #pemphigus, #pemphigoid, #healourskin, #PutItOnYourRadar, and #RareDisease. Be a part of the larger conversation. Help spread awareness through hashtags. If a reader clicks on those hashtags, posts from everyone who has used those hashtags are found.

Imagine if our entire community used #PutItOnYourRadar, and our Awareness Campaign team encouraged dental professionals to search for that hashtag. The dentists and technicians would know more about pemphigus and pemphigoid, and perhaps help diagnose it sooner. Imagine using #RareDisease, #pemphigus and #pemphigoid in a Facebook or Twitter post and a pharmaceutical company is researching a new potential clinical trial. They can search for rare diseases on social media, find our community, and know how many people they could be reaching. Imagine an individual, newly diagnosed, alone, fearful, and confused. Help them search on social media for #pemphigus or #pemphigoid and discover #healourskin. Help them find our community and know they are not alone, and discover there are people willing to help support them.

A year and a half ago #healourskin was virtually non-existent. Now, when you do a search on one of the social media platforms you can see a whole community of people affected by pemphigus and pemphigoid using the hashtag. The more sharing of #healourskin, the larger it becomes and the more awareness that we create!

We at the IPPF get asked all the time, “What is #healourskin?” We tell them to search on social media and they soon discover pemphigus and pemphigoid. More importantly, they see the faces of the people that it affects, hear their stories, and understand the struggles.

We can raise awareness. We can educate medical professionals about pemphigus and pemphigoid. We can reach out to pharmaceutical companies about better treatments. We can advocate for better laws for rare disease patients and request more funding for research. We can come together as a community for change, but we here at IPPF can’t do it without you. We need you as part of the conversation.

So join in! Post on Facebook, Twitter, or Instagram and use those hashtags! Show the world how important we are. Show the world who you are and use #healourskin!

Don’t forget to wear the #healourskin sunglasses…

Events