Last month, the National Organization for Rare Disorders (NORD) hosted a webinar featuring IPPF Medical Advisory Council Member, Dr. Yoshiyuki Mochida, and IPPF Outreach Director, Becky Strong. The webinar, “Oral Health and Rare Disorders,” focused on dental conditions associated with rare disorders and the challenges that people face socially and financially. The discussion included approaches for obtaining insurance coverage for necessary dental procedures and perspectives from two patients and a dentist. Access the recording on YouTube here.
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.
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.
The first Rare Disease Day was first launched in Europe by EURORDIS, The Voice of Rare Disease Patients in Europe, and its Council of National Alliances in 2008. The USA joined the cause in 2009. By 2016, Rare Disease Day has become a worldwide event with over 80 countries participating.
Rare Disease Day is a pretty cool thing for those of us with rare diseases. According to the National Organization for Rare Disorders (NORD):
“Rare diseases are not so rare: there are 7,000 rare diseases & disorders that combined affect 30 million Americans–1 in 10 of us–and more than half are children.
People with rare diseases have tremendous unmet needs, including misdiagnosis, a long time to finally receive a correct diagnosis, and when they do, 95% have no treatment with ZERO CURES.
Rare Disease Day takes place on the last day of February each year. The main objective is to raise awareness with the general public and decision-makers about rare diseases and their impact on patients’ lives.”
This year’s global theme is research. It is our chance to give lawmakers, industry leaders, researchers, and healthcare professionals a glimpse of the impact a rare disease and its treatments may have. It is a local, national, and international awareness event.
Rare Disease Day is a day of unity for us patients. I can’t speak for you, but I felt very alone and isolated when I found out I had pemphigus vulgaris. Then I found community in the IPPF. It was very comforting to know there were others out there who had gone through what I was living through. Now imagine being with hundreds of others who have a variety of rare diseases. Like us, they are patients looking not only for effective treatments, but also cures. On Rare Disease Day, we are a united front advocating for increased funding for research. It’s a time of inclusion. A time for uniting as one. A time to make a difference.
It’s also a time to network with other patients and learn about their diseases, how those diseases affect them, and what their disease organizations do to support their needs. It’s a way to find out what we – as members of the IPPF – can do better to help and support all who are affected by rare diseases. It is a time to find community and strength in knowing that we are not alone in a search for better treatments and cures.
Rare Disease Day is a day to find strength and power in your weakness, your disease. You have the power to share your story. Your story has the power to impact the leaders of your city, state, and country. Your story can evoke changes in law, government, healthcare, and medical education.
I encourage you to look for opportunities where you can get involved. If no opportunity exists near you, you can create your own. You could share your story with co-workers or local government officials, organize a bake-sale and donate the proceeds to the IPPF, or organize a run/walk to raise awareness. The list of possibilities is endless. Just be sure to explain what pemphigus and pemphigoid are and refer people to the IPPF if they have questions.
February 29 is the rarest day on the calendar. This year, I invite you to do something meaningful to mark the day.
On the last day of February, millions of people from around the world will observe Rare Disease Day® by organizing events and activities that raise awareness for patients, families, and caregivers affected by rare diseases.
Because you, and we as your advocates, are directly connected to a rare disease, this is a perfect opportunity for us to raise awareness for pemphigus and pemphigoid which affect roughy 1 in 1,000,000 people. Pemphigus and pemphigoid are just two of the 7,000 known rare diseases that in total affect 30 million – or 1 in 10 – Americans, making them not so rare after all.
We know first-hand the difficulties families have getting access to life-saving, life-improving medical treatment or other services due to insurance obstacles or to a lack of knowledge about pemphigus and pemphigoid by the medical community. This challenge is common to all rare diseases.
What is Rare Disease Day®?
Rare Disease Day® began in Europe in 2008, and is now in its eighth year in the U.S. under the sponsorship of NORD. In 2015, all five continents and 80+ countries participated. Through social media, there has been even greater awareness and participation.
This year’s theme “Patient Voice” recognizes the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and caregivers. The 2016 slogan “Join us in making the voice of rare diseases heard” appeals to a broader audience who may not be living with or directly affected by a rare disease, and to join the rare disease community in making known the impact of rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation.
Some rare diseases (such as most types of cancer and Lou Gehrig’s disease, or ALS) are well known to the public. Many others, like pemphigus and pemphigoid, are not. I am sure many of you can empathize with millions of others who have a disease most people have never heard of, for which there is treatment, or one even being studied in clinical researchers. Thankfully, pemphigus and pemphigoid are being actively researched with new treatments being added to the list of clinical trials each year. But for others this is not always the case.
How Can You Raise Awareness?
Raising public awareness truly makes a difference. It gives families hope and can lead to new, life-saving treatments. You can help by participating in any of the following ways:
- Handprints Across America. Print a flyer, take a picture, and post to your social media accounts.
- Attend a State House Event. If you’re near your state capitol, join others in educating elected officials.
- High School Biology Curriculum Supplement on Rare Diseases. Help high school students understand rare diseases.
- Social Media. Join the conversation on social media and use the official, global hashtag for 2016, #RareDiseaseDay.
I encourage everyone in our closeknit community to get involved by visiting the U.S. (www.rarediseaseday.us) or global (www.rarediseaseday.org) Rare Disease Day website before February 29 to learn about events in your area and what you can do.
The National Organization for Rare Disorders
The Importance of Rare Disease Education
Sophia A. Walker
February 25, 2015
Recently a wise professor told my class that we medical professionals are some of the most powerful people in the world. Indeed, we have the ability to meet people at their most vulnerable, sometimes on the very worst day of their lives, and help them. “This profession,” he told us, “is such a privilege that we must never miss the opportunity to have at least done some good for every patient.” Over the past several weeks, as I have planned rare disease awareness events and begun preparing to enter the clinical years of my medical education, I find myself considering these words more frequently. However, at the end of the day, I wonder how powerful we are, really…
My interest in rare diseases originated during my senior year of high school, when I first started volunteering at the National Organization for Rare Disorders, Inc. (NORD). I was overwhelmed to discover the many obstacles experienced by patients who have rare diseases. On a technical level, any disease that affects fewer than 200,000 Americans is considered rare. Of the more than 7000 rare diseases, only approximately 350 have treatments that are approved by the US Food and Drug Administration (FDA). I found that individuals with these diseases, almost two thirds of whom are children, show great courage and perseverance in the face of significant discouragement. Although I had always wanted to be a doctor, it was not until I witnessed such unrelenting determination to overcome barriers in healthcare that I discovered my own enthusiasm for medicine.
All physicians strive to provide attentive medical care with the utmost compassion and empathy; however, as medical professionals, we must also be our patients’ most vocal advocates. Although I was not yet a physician, I still wanted to contribute to this effort. I wanted to provide a forum for the nearly 30 million Americans with rare diseases whose voices often go unheard in the medical community, and I wanted to share this passion with my peers. Every year, my fellow students and I host a Rare Diseases Awareness Event. Patients, students, clinicians, and researchers come together to share their experiences and insights regarding rare diseases. We strive to shed light on the lives of these individuals by allowing them to share their own stories, sometimes for the very first time.
Although many students may assume that we do not need to know as much about rare diseases because we are unlikely to encounter them in our practice, this is simply not the case. In fact, every one of us preparing for medical careers will see patients with rare diseases, and the extent to which we prepare ourselves for this reality will determine the impact we can have on these patients’ lives. Patients who have a rare disease face difficulty in every step of medical care, including diagnosis, treatment, and preserving quality of life. Sometimes, patients go years without receiving the correct diagnosis for their condition. Once they finally have an answer, often no treatment is available for their condition. As future physicians, we must aim to improve these prospects; the first step in doing so involves developing a keen understanding of this patient population.
The opportunities for medical students to learn about rare diseases are vast. Gaining a basic understanding of how the experience of having a rare disease is different from having a more common disease is equally essential. The National Institutes of Health (NIH) has great information related to rare diseases on its website, and the NORD website provides overviews and links to more than 200 patient organizations that provide excellent information about specific rare diseases. Students can also apply for a free NORD student membership by writing to firstname.lastname@example.org. Once you register, you receive a monthly eNews and quarterly newsletter specifically designed for students planning healthcare careers. If you’re attending the American Medical Student Association annual convention in Washington, DC, on February 27 and 28, come to the NORD booth in the exhibit hall where patients with rare diseases will be sharing their stories.
With each speaker I listen to at a rare diseases event, with each new person I meet, I am filled once again with immense pride that our efforts, if even in a small way, have done some good. Unlike many people who are involved in advocacy efforts in this area, when I began this work, I did not have a personal connection to rare diseases. However, after years of getting to know people who have experienced these struggles, I can say that I now have several. In fact, it is the memory of the individuals I have met and the satisfaction in having contributed to raising awareness that has guided my interests, served as an influence in many decisions, and ultimately has been the driving motivation in achieving my aspirations. With every step I take moving forward in my career, rare diseases comes along with me and will continue to do so.
My passion for rare diseases advocacy has become perhaps the foremost aspect that defines me and has made me who I am. It has given me direction, has made me a leader, and continually prepares me to become one of those physicians who will do some good. A couple of years ago, one of my undergraduate professors asked me, “Are you that rare diseases girl?” He went on to say that a student who had been inspired to research rare diseases after attending my event had approached him with an interest in working in his lab. This is the reason why I raise awareness for rare diseases. If just one more person every year becomes inspired, that may eventually make all the difference in the world. It turns out that, in the end, we are all powerful together. After all, according to the NORD motto: “Alone we are rare. Together we are strong.”®