This year, we’d like to invite YOU to take action too.
Here’s how we’re doing so far!
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Fibrous dysplasia and McCune-Albright syndrome (FD/MAS) will once again be on the minds of lawmakers at this year’s Rare Disease Week on Capitol Hill. The Congressional Rare Disease Caucus is hosting a briefing for lawmakers and the general public on the state of rare disease. FDF’s Executive Director, Deanna Portero, will present at this briefing on the importance of federal incentives for rare disease drug development.
The Congressional Rare Disease Caucus is an important bipartisan forum for members of Congress to collaborate and build support for legislation that will improve the lives of people who have a rare disease. The caucus is led by Representative Leonard Lance (R-NJ), Representative G.K. Butterfield (D-NC), Senator Orrin Hatch (R-UT), and Senator Amy Klobuchar (D-MN) and includes 98 Representatives and 5 Senators from all over the country.
Rare Disease Legislative Advocates helped coordinate the Rare Disease Day briefing, which is open to the public. Representative Lance will make opening remarks. The briefing will then feature advocates from across the rare disease world, including the Fibrous Dysplasia Foundation, Rare and Undiagnosed Network, Parent Project Muscular Dystrophy, American Medchem Nonprofit Corp., and Amyloidosis Research Consortium. The briefing will be moderated by former congressman Brian Baird.
Portero’s presentation is an important opportunity to raise the visibility of FD/MAS on the federal stage and to make a strong case for legislation that is important to the FD/MAS community, such as the Orphan Drug Act and the OPEN ACT.
“FDF won’t rest until we have a treatment or a cure for FD/MAS, and we need everyone–including Congress–to work together to achieve that goal. Briefings like this one are important because Congress can only solve problems if they understand those problems, and the challenges of fighting for better treatments for rare diseases like FD/MAS are very complex, ” said Portero.
“The first step will be to help federal lawmakers and their staff really connect with what it means to have NO treatment to interfere with the progression of a disease. I think that many people mishear ‘no treatment,’ and instead imagine circumstances that they are personally familiar with, like ‘a treatment that only slows a disease instead of stopping it,’ or ‘a treatment with hard-to-handle side effects,’ or ‘a treatment that is too expensive to be affordable.’ I need them to understand a different, and harsher reality: the reality that FD/MAS patients live with, where there are literally zero treatments that have been shown to affect the progression of the fibrous dysplasia bone lesions. Each and every FD tumor is a runaway train, and every day our community is just trying to keep up with the burdens of damage control.”
“The second step is explaining that it doesn’t have to be this way. The federal government has enormous amounts of influence over the private sector and power over public health institutions. By protecting and establishing incentives for rare disease drug development, the future could be very different,” Portero concluded.
Health staffers from many congressional offices will be there to hear about the unmet needs of the FD/MAS community and other rare disease communities, and to learn what they can do to support finding more treatments and cures. Rare Disease Day offers an appropriate moment to measure the nation’s progress on the diagnosis and treatment of rare diseases, and the FD/MAS community deserves to be seen and heard on these important issues.
Patient and researcher meetings are important because they allow engaged members of a rare disease community to organize, strategize, and take action. This year, patient and family meetings were held in Maryland in the United States, Leiden in the Netherlands, and Birmingham the UK. FDF hosted the United States meeting and attended both European meetings.
If you missed this Fall’s Patient and Family Conference, you missed a weekend packed full of clinical information and uplifting patient stories. It really was an incredible weekend of learning and connecting, but just because you couldn’t make it doesn’t mean you have to miss out. We’ve saved and shared all the livestream video footage from the conference in a playlist on your YouTube channel.
Interested in what’s happening in FD/MAS research? Are there new treatments on the horizon? Who exactly is signing up for the FD/MAS Patient Registry, and what’s the point? Watch the Research Panel Presentation.
Ever wondered how MAS affects fertility or what the signs of phosphate wasting are? Check out the Endocrine Panel.
Worried about your optic nerve and whether you should have surgery? Nervous about finding love with all the complications of a rare disease? Clinicians and patients cover these topics and more in the Craniofacial Panel.
Looking for answers about a weight bearing bone? Curious about how strong muscles can help brittle bones? Watch the Orthopaedic Panel.
Want to hear what other clinicians and patients are using to manage pain? Ready to learn about what mindfulness can do for you? Check out the full pain panel for ideas and demonstrations.
Curious about why the tax plan might affect rare disease? Wondering what other patients and families do to cope and fight back? You’ve got to watch the Path to Progress Panel.
All these videos include patient experience, clinician’s advice, and the latest research on FD/MAS. Read each video’s description (below the video) to locate specific speakers within each panel. Attendees came from as close as down the road, and as far away as Brazil, Romania, South Africa, and Jordan. We hope you’ll join us at the next one!
Patient and researcher meetings are important because they allow engaged members of a rare disease community to organize, strategize, and take action. This year, patient and family meetings were held in Maryland in the United States, Leiden in the Netherlands, and Birmingham in the UK. FDF hosted the United States meeting and attended both European meetings including the 3rd annual FDMAS International Consortium.
Leiden University Medical Center was the site of a large, three-day meeting in mid-November. The meeting was organized by Leiden University Medical Center researchers, including Dr. Natasha Appelman-Dijkstra and Neveen Hamdy, and patient advocates from the patient group Patientenvereniging Fibreuze Dysplasie, including Martine Dekker. The meeting was supported by the European Society of Endocrinology, and the Endo-ERN and ERN BOND of the European Reference Networks.
The first two days of the meeting were attended by dozens of leading FD/MAS scientists, and leaders from four FD/MAS patient groups. The goals of the first two days of meeting were to review and update the clinical management of FD/MAS, and to encourage interaction between basic scientists with clinicians of various specialties and patient advocacy groups. In both respects, the meeting was very successful.
“For the third year in a row, FD/MAS researchers have come together at an annual scientific meeting specifically focused on FD/MAS. These types of meetings are just as crucial to progress as research grants. They offer a venue where researchers can exchange cutting-edge information, and find new areas for collaboration,” said FDF executive director Deanna Portero, who attended the meeting.
“We were so grateful that the researchers welcomed the Fibrous Dysplasia Foundation to the meeting, along with patient community leaders from the UK, Italy, the Netherlands and Romania. The researcher community recognizes that the FD/MAS patient community is a full partner in the path to a cure, and that we need to be at the table where challenges and opportunities are being discussed.”
The meeting truly was international. In addition to the international delegation of patient advocates, presenting researchers at the scientific meeting came from Dutch, Italian, American, Danish, French and British research institutions. Many of the research topics–from the development of new treatments, to clinical trials of existing therapeutic options–require international collaborations, either because the top experts in an area are distributed across counties, or because many research questions would require so many patients to enroll in a study that an international collaboration is the most realistic option to conducting a study.
One of the major points of discussion was finalization of a new “clinical pathway,” a comprehensive guide on how to manage FD/MAS based on the consensus opinions of top FD/MAS clinical researchers. The hard work of achieving consensus is mainly complete, so now the conversation has turned toward distributing this resource once it is complete. Part of that solution, of course, involves working with patient groups like the Fibrous Dysplasia Foundation. However, it’s also just as important, and much more challenging, to reach clinicians directly, and the researchers and patient groups discussed strategies to accomplish that goal.
The third day was the “Patients Day,” where families from all over Holland came to Leiden to learn directly from the researchers. Topics included bisphosphonates, denosumab, pediatric management, orthopedic management, and the role of patients and families in advancing care. The third day ended triumphantly, with the presentation of a check for 55,000 euros to the Leiden University Medical Center from FD/MAS patient advocates, for the purpose of FD/MAS research.
For more information about Patientenvereniging Fibreuze Dysplasie, visit fibreuzedysplasie.eu.
Patient and researcher meetings are important because they allow a rare disease community to learn, organize, strategize, and take action. This year, patient and family meetings were held in Maryland in the United States, Leiden in the Netherlands, and Birmingham in the UK. FDF hosted the United States meeting and attended both European meetings, including the FDSSUK meeting.
Aware of the date of the Leiden meeting, FDSSUK leadership made the savvy decision to schedule their meeting immediately afterward. All of the speakers at this year’s FDSSUK Annual Meeting–Drs. Michael Collins, Alison Boyce, Robert Stanton and Kassim Javaid, as well as patient community leaders Deanna Portero and Valter Dal Pos–came to FDSSUK meeting fresh from the exciting international conference at Leiden that had concluded only the day before.
The meeting took place in Birmingham Children’s Hospital. Attendees included a mix of newly diagnosed families, alongside families and adult patients who have attended several of the Annual Meetings.
In particular, the doctor consults were very well managed at the UK meeting. “Many families attend these meetings because of the opportunity to speak one-on-one with global experts about their particular case. Unfortunately, many cases of FD require a number of specialists to consult together to come to the right decision, so meeting with a doctor one-on-one isn’t always enough. What was really superb about the FDSSUK meeting was that patients and families met with Drs. one-on-five. A single patient would talk to collection of Drs. of different specialties, and then the Drs. could quickly converse and collaborate to come up with the best answers from across their specialities,” recalled Portero. “That’s a great model, that I hope we can replicate parts of for future FDF meetings. It might mean fewer overall consult appointments, but each one would be very valuable, and you’d have fewer mismatches between the type of doctor assigned to a consult, and the family’s questions.”
In addition to world-class presentations on medical care from Drs. Michael Collins, Alison Boyce, Robert Stanton and Kassim Javaid, there were also presentations about how the patient community can mobilize to accelerate progress. FDF executive director Deanna Portero gave a presentation on the evolution of FDF research programs, and an overview of how the FDSSUK might grow their existing programming to become more active in funding and supporting research. EAMAS (Associazione Europea Amici della Sindrome di McCune-Albright) President Valter Dal Pos gave a presentation highlighting various ways that patient groups in Europe can have special and important official roles in approving new treatments, creating improved care networks and unlocking public research funds.
After two days of in-depth educational presentations, the meeting concluded. For more information on the Fibrous Dysplasia Support Society UK, visit www.fdssuk.org.uk.
We’re thrilled to announce a new partnership that will bring Fibrous Dysplasia Foundation’s resources in front of The Mighty‘s wide-reaching readership. We will now have our own growing home page on The Mighty and appear on many stories on the site.
The Mighty is a story-based health community focused on improving the lives of people facing disease, disorder, mental illness and disability. More than half of Americans are facing serious health conditions or medical issues. They want more than information. They want to be inspired. The Mighty publishes real stories about real people facing real challenges.
Here’s an example of the kind of stories on The Mighty: 8 Things I Wish I Knew When My Child Was Diagnosed With a Rare Disorder.
The Mighty is dedicated to helping people with rare disease, including Fibrous Dysplasia and McCune-Albright syndrome in their lives. With this partnership, our community will be able to reach even more people.
The Fibrous Dysplasia Foundation remains dedicated to improving the lives of patients with fibrous dysplasia, McCune-Albright syndrome, and other related diseases through research, education, advocacy, and support. Our partnership with The Mighty represents an added layer of both advocacy and support. Through their online community, we know that more people will learn about these rare diseases and we hope that patients feel inspired by the content that The Mighty shares.
We encourage you to submit a story to The Mighty and make your voice heard.
As the international research conversations about fibrous dysplasia and McCune-Albright syndrome (FD/MAS) treatment continue to build, patients need to be at the center of that dialogue. “As a kid and teenager, I only talked about my MAS when I was at the doctor’s office. That was it,” said FDF Board member and MAS patient, Lauren Ruotolo, “Patients need to be able to learn from each other and maintain a dialogue with researchers in order to move our priorities forward.”
March 17th and 18th the international conversations continued at a patient conference hosted by EAMAS, an Italian FD/MAS patient association in Arezzo Italy. While at the conference, patients learned from prominent researchers. Some researchers presented the latest information about how to treat FD/MAS, while others presented advanced, cutting-edge research on the biology of FD/MAS. The researchers also learned from patients, listening to testimonies from their clinical management histories, and other experiences.
The FDF was represented by Ruotolo whose presentation to the conference focused on progress from the FD/MAS Patient Registry launched last October. Italian patients and researchers were very interested in the possibilities the FD/MAS Patient Registry creates for research and collaboration. The registry recently reached 400 participants and is believed to be the largest study of FD/MAS ever. It represents a clear way patients can engage in advancing research.
While at the conference, Ruotolo met a group of young women who were all FD/MAS patients as well. Although their English was limited, Ruotolo quickly connected with these women because of their shared MAS experiences. “We talked about mental health issues and what it was like to be fully developed by age 8, or even younger. Women with MAS want to know when we’ll hit menopause. We want to talk about what we should expect in the future,” said Ruotolo. The registry is an outgrowth of these conversations and a platform that allows researchers to study and answer patient questions in a scientific method. “The Registry is significant for patients because it focuses on the conversations that we really need to have, but don’t always have a platform to start,” said Ruotolo.
One of the researchers who presented was two-time Million Dollar Bike Ride grant winner, Dr. Mara Riminucci of Sapienza University of Rome. Dr. Riminucci’s presentation included updates from her grant sponsored work, some of the most advanced scientific developments in FD to date. The goal of her project is to test brand new treatment approaches that could slow or stop FD bone growth. Riminucci’s work is directly supported by patients, and Ruotolo has been one of the main fundraisers for that work. “Meeting Lauren [Ruotolo] has made me realize that genetic rare diseases are a challenge that researchers can only face together with the patients,” said Riminucci, “Patients like Lauren are much more than the target of our research, they are the engine that makes our work go on.”
In addition to the Million Dollar Bike Ride partnership, the EAMAS conference continued many FDF international collaborative efforts. “We’re helping the Italian patient group to design their own research study, and we’re contributing to a UK-led project to update international patient treatment guidelines,” said FDF Executive Director Deanna Portero. “When any country, group or researcher makes advancements in FD/MAS treatment and quality of life, patients from every country benefit. Working together is our best option, and it’s our only option if we want to see real advances in FD/MAS care.”
After the conference, Ruotolo was both more inspired and more specific about FD/MAS action steps. “We need to be where the conversation is happening,” said Ruotolo, “The molecular science is exciting, but as patients, we also want to know the impact on our everyday lives. Patients need to organize around the advances that we want to see.” As the FD/MAS community becomes more active, improvements will reach patients faster. The FDF plans to attend future international research and clinical meetings to advocate for patient concerns and beat FD/MAS.
February 28th, 2017 we celebrated International Rare Disease Day, an annual awareness day dedicated to elevating public understanding of rare diseases. This year’s theme was “research,” and the Fibrous Dysplasia Foundation (FDF) participated by raising money for FD/MAS research and gathering patient stories in the scientifically designed Patient Registry. The FDF also participated in Rare Disease Week on capitol hill by speaking with lawmakers about issues that are important to our community.
One of our most exciting accomplishments from the week included that fibrous dysplasia was one of just thirteen diseases mentioned in the Senate resolution designating February 28th, 2017 as Rare Disease Day. Check out this short video to see other highlights from the week:
Washington, DC—February 21st, 2017—The Fibrous Dysplasia Foundation has joined forces with 30 million Americans and health care advocates around the world for Rare Disease Day® on February 28. Rare Disease Day is an annual awareness day dedicated to elevating public understanding of rare diseases and calling attention to the special challenges people face.
The Fibrous Dysplasia Foundation is the leading international organization in the fight against fibrous dysplasia and McCune-Albright syndrome (FD/MAS), and related disorders including cherubism. The Fibrous Dysplasia Foundation serves the FD/MAS community through programs of support, education and research.
“For the FD/MAS community, this may be the most important Rare Disease Day yet. With upcoming changes to healthcare laws in the US, it is vital that we raise awareness of the issues faced by people living with rare diseases,” said executive director Deanna Portero.
Portero will be joining other leaders in the rare disease community on March 1st to visit federal lawmakers, and inform lawmakers about the important needs of people with FD/MAS and cherubism.
The theme for Rare Disease Day® 2017 is “research.” For the third year in a row, Team FD has registered with the University of Pennsylvania Orphan Disease Center to raise funds for FD/MAS research through the Million Dollar Bike Ride. Supporters can set a fundraising goal, and start fundraising for FD/MAS research in under 5 minutes. Click here to learn how. Funds from this fundraiser are crucial for continuing the fight against FD/MAS.
According to the National Institutes of Health (NIH), a disease is rare if it affects fewer than 200,000 people. Nearly 1 in 10 Americans live with a rare disease—affecting 30 million people—and nearly half of these patients are children. There are more than 7,000 rare diseases and only approximately 450 FDA-approved medical treatments.
Rare Disease Day takes place every year on the last day of February (February 28 or February 29 in a leap year)—the rarest date on the calendar—to underscore the nature of rare diseases and what patients face. It was established in Europe in 2008 by EURORDIS, the organization representing rare disease patients in Europe, and is now observed in more than 80 nations. Rare Disease Day is sponsored in the U.S. by the National Organization for Rare Disorders (NORD)®, the largest and leading independent, nonprofit organization committed to the identification, treatment, and cure of rare diseases.
For more information about Rare Disease Day in the U.S., go to www.rarediseaseday.us. For information about global activities, go to www.rarediseaseday.org. To learn more about fibrous dysplasia/McCune-Albright syndrome (FD/MAS) or cherubism, visit the Fibrous Dysplasia Foundation’s website, www.fibrousdysplasia.org. To search for information about rare diseases, visit NORD’s website, www.rarediseases.org.
Deanna Portero, Fibrous Dysplasia Foundation, 917-513-2169, firstname.lastname@example.org
Jennifer Huron, NORD, 203-744-0100, email@example.com
Momentum is building among researchers across the world who study fibrous dysplasia and McCune-Albright syndrome (FD/MAS). From December 1st through December 3rd, a powerful group of clinical researchers met in Lyon, France for the Second International FD/MAS Initiative Meeting. Attendees from the research world included US researchers Michael Collins and Alison Boyce of the National Institutes of Health (NIH), French researcher Roland Charpulat of INSERM, UK researcher Kassim Javaid of Oxford University, and Dutch researchers Neveen Hamdy and Natasha Appelman-Dijkstra of Leiden University Medical Center, among other important FD/MAS researchers.
These researchers met for the first time as a group in the UK in 2015 to discuss the development of an international set of clinical care guidelines, and agreed to meet again the following year to continue work on that project. The clinical care guidelines will be a publicly available, deeply detailed guide of how to treat FD/MAS, that is based on the research and wisdom of the participating researchers. After a successful second meeting in France this December, the clinical researchers have agreed to meet annually for the next few years, to complete the international clinical pathway project, and to potentially work on additional projects in the fight against FD/MAS.
In addition to researchers, representatives from patient organizations from the UK, France, Italy, and the United States also attended the meeting. Each patient group representative gave presentations in an effort to help clinicians understand patient concerns and priorities, and to exchange information about the programs and goals of the different patient groups. From the US, the Fibrous Dysplasia Foundation (FDF) was represented by Lauren Ruotolo, an FDF board member, MAS patient, and content marketing professional.
“It was really exciting to be in France and to connect with so many other people who understand and treat this disease. As a patient that meant a lot to me,” said Ruotolo, “I was also struck by how much patient groups can do when they organize and engage. It was really eye opening to see the work of similar organizations from places like France, The Netherlands, Italy, and the UK.”
Ruotolo’s presentation focused on patient priorities and the questions that registered study participants want to see answered most.“People are really affected by pain and they want researchers to find solutions. Patient organizations have the potential to collaborate and address those concerns with the scientific community.” This was the first conversation where the FDF could advocate for the FD/MAS community based off survey data about patient priorities. That’s an important change from the past because researchers tend to pay more attention to information that has been collected in a scientific manner.
Ruotolo also shared information about the Fibrous Dysplasia Foundation’s programs with the other patient organizations, highlighting areas that would benefit from more international collaboration. FDF’s Executive Director Deanna Portero looks forward to increased collaboration between different FD/MAS patient groups, “FD/MAS doesn’t play favorites, it doesn’t care what country you live in. We’re all in this together. Across the world, FD/MAS patient groups have so many shared problems and goals. Working together on more projects will mean more progress for patients in all of our countries. That’s why collaboration is one of FDF’s core values.”
Dr. Boyce, who holds leadership positions on the NIH Natural History Study and the FD/MAS Patient Registry Oversight Committee, felt that the meeting benefitted from formal involvement of patient organizations. “One of the main goals of the meeting was to develop international clinical care guidelines for FD/MAS. This will help patients with FD/MAS all over the world receive the appropriate work-up and treatments for their disease. Partnering with patient advocacy organizations has been invaluable in putting these guidelines together, and will be an important part of sharing them with the international community.” said Dr. Boyce.
Dr. Collins, Chair of the FDF’s Medical Advisory Council, agreed that the meeting was incredibly productive. “We made great progress on the guidelines and forged a real working relationship between the consortium of investigators from all over the world. A standardized treatment protocol will allow clinicians and investigators to better compare their patients and the efficacy of treatment. A nice feature of the gathering was that all of our patient groups were different but complementary. I’m confident this group will coalesce and make tremendous progress in FD/MAS.”
Next year, the same group will meet in The Netherlands. Ruotolo is adamant that a patient advocacy collective should attend as well. “As part of the FDF and also a patient myself, I feel extremely motivated to collaborate with other countries and to set patients everywhere on a course for better care.” said Ruotolo, “There’s a great potential for the international FD/MAS community to learn from each other and for patients to direct progress on a global scale.”