When evaluating potential new treatments and reviewing clinical trials, the perspectives of patients and caregivers help government regulators (like FDA) and drug developers understand what matters most to those directly impacted by these drugs. To share those community perspectives, NORD is proud to organize and host externally led Patient-Focused Drug Development (EL-PFDD) meetings, innovative events that provide an opportunity for families and patients to share critical information about the impact of a rare disease on their daily lives and provide valuable insight for FDA and other key stakeholders, including researchers, medical product developers and health care providers. 

On May 4, NORD hosted one of these critically important gatherings with FDA personnel, featuring the Post-Transplant Lymphoproliferative Disorder (PTLD) community. For the safety of the community, it was a fully virtual meeting, and featured live, engaging, interactive components, including polling, patient remarks, and engagement with federal decisionmakers and researchers. The four–hour EL-PFDD meeting was host to over 100 attendees and featured honest testimonials from parents, family members, caregivers, advocates, and community members who shared the burdens and symptoms of PTLD and hope for more robust treatment and cures in the future.  

The goals of the meeting were to tell stories and provide a robust understanding of how individuals with PTLD view their quality of life, which aspects of the disease are most challenging for them, and what actions they currently take to treat this disease. Caregivers and patients shared in-depth stories of how the disease manifested in their lives and wreaked havoc on their livelihoods, health, relationships, and more.  

Swapna Kakani, who was diagnosed with PTLD after a small intestine transplant in 2014, kicked off the meeting with a powerful message about the stories shared in the meeting: “Our vulnerability in our words is to ask you to have compassion and meet us where we are today to have health AND life alongside a PTLD diagnosis. Both are not mutually exclusive.” This set the tone for a productive and compelling conversation throughout the rest of the day. 

The audience heard directly from patients who recounted their unpredictable daily struggles with the disease’s widespread symptoms and what comes with such burdens, including from Ola Ojewumi, and the added challenges she faced from an inclusion standpoint. “During cancer treatment, my clinicians spoke with me about treatment outcomes for African American patients or provide resources to learn more about the drug. I was hesitant to ask about race and ethnicity because discussions about race is still seen as taboo in society. I was afraid my concerns would be dismissed or seen as insignificant. Representation matters when it comes to clinical trials for cancer treatment.” 

Parent and caregiver Greg Tufaro spoke about the devastating and consuming impact of the disease on his late daughter, Marisa. “My wife, Cyndi, and I are eternally grateful for the time God blessed us with Marisa. But we struggle daily to live with the tragic irony that the transplant performed to save her life inevitably claimed it, along with the heart of a donor whose family is also grieving… Marisa spent 161 of the last 214 days of her life as a patient at a nationally renowned children’s hospital, where dozens of doctors and nurses, profoundly impacted by her remarkable courage and will to survive, were reduced to tears upon her untimely passing.” 

Even for those such as Marianna DeLeon, who does not currently have signs of PTLD, there is still concern about what the future holds: “I am beyond happy to have had the amazing and unexpected gift of going into remission, but I will always bear the scars of not only my PTLD, but of the harsh, traumatic treatments I needed to survive it.” 

However, this meeting was not just designed to share stories, but to make progress and build on lessons learned. The second half of the meeting focused on treatments and facilitated audience discussion to urge strategic planning for next steps. The results of this meeting will be shared publicly in a “Voice of the Patient” report to inform the development of potential treatments that can improve the lives of patients living with PTLD and those who are diagnosed in the future.   

NORD would like to commend and recognize the great courage of all the panelists and speakers, and we are very grateful for their openness to share life experiences and needs. To view all the heartfelt stories and the entire meeting, please visit rarediseases.org/externally-led-post-transplant-lymphoproliferative-disorder-patient-focused-drug-meeting.

NORD is thankful to have partners in the rare disease field interested in hearing patients’ and caregivers’ perspectives, who can help understand hopes for future treatments, treatment side effects patients are willing to tolerate, the medical risks they are willing to take in clinical trials, and their interests and challenges in participating in clinical trials. As Rebekah Palmer, a PTLD patient said in the meeting’s closing remarks, “It is my greatest hope that these stories can help inform and improve the care received and quality of life for future generations living with PTLD.”  

NORD applied to the FDA and was granted approval to host an EL-PFDD meeting focused on pyruvate kinase deficiency (PKD) in 2019, Krabbe disease in late 2020, PTLD last week, and is planning to host a PFDD in late 2022 for another rare disease, Galactosemia, in conjunction with the Galactosemia Foundation. PFDDs are one of the most important ways the voice of rare disease patients and caregivers can be heard and utilized in decision making. Each year, NORD allocates resources and provides additional guidance and leadership to help a few groups and disease communities with need in hosting PFDDs and bring patient experiences directly to decisionmakers. 

The post NORD Hosts the Largest Gathering of a Rare, Post-Transplant Cancer in History appeared first on NORD (National Organization for Rare Disorders).

What motivated you to start RCRF?

I am a rare cancer survivor, and I was diagnosed with ocular melanoma at the age of twenty-eight in 2012. Following my diagnosis, I tried to learn more about why we weren’t treating patients with ocular melanoma and other rare cancers adequately. I thought there would be scientific questions that we hadn’t been able to work through yet, but instead I heard repeatedly that researchers don’t have any data, models, and resources to lead to the work of testing these scientific radical hypotheses. Similarly, the narrative I heard from the physicians who were treating my dad, who at the time was diagnosed with glioblastoma, was that researchers don’t have the fundamental research infrastructure to do their jobs.

How has your experience in global renewable energy project development and solar product distribution translated to your leadership role at RCRF and in the rare disease space?

When I look at the rare cancer research ecosystem, a lot of organizations and researchers struggle with having to reinvent the wheel over and over again. The metaphor that I like to use is imagine that you were set out to publish a book and came to the conclusion that you needed to invent the printing press in order to get the book published. What we have tried to do is create shared service solutions that can support the research efforts of researchers and clinicians by doing the nuts and bolts or back-office work that must be done for the research to progress, which may not be the highest and best use of researchers.

A big part of what we’ve done in some of my global renewable energy firms is think about how to enable consumers to contribute and participate in solving climate change more directly. A lot of what Pattern.org does is the same, by empowering patients to be proactive in trying to contribute to the research that is happening on their rare disease, the development of new therapies and ultimately cures. If we can unlock patients as resources in that effort and enable them to contribute more fully to the development of new therapies, we have high conviction that we can get to better solutions much faster. A lot of what Pattern.org is about is moving patients from being recipients of care to being active stakeholders and trying to push the rare cancer research movement forward to get better therapies faster.

How does your team’s diverse backgrounds and expertise contribute to RCRF’s mission of enabling rare cancer research?

Our team might be small, but our stakeholder community is large. Pattern.org is driven entirely in an online format for the patient informed consent process, which means that anyone in the country, regardless of where they are, can sign up and participate. They don’t have to go to a comprehensive cancer center or a center of excellence. They can go to a regional health center near their home and still contribute to the research enterprise. This has enabled us to address a much larger and more diverse patient population than what most comprehensive cancer centers can pull from locally, or from those who are fortunate enough to have the means for travelling for care.

We have folks from a range of different backgrounds within our team and from partner organizations that address many different patient communities.  It is similar to NORD’s Rare Cancer Coalition.

A great opportunity we have been focusing on is working with the Veterans Administration to collaborate with certain hospital groups who work with underrepresented populations, especially in the medical research enterprise whether that’s due to race, ethnicity, socioeconomic status, etc. With Pattern.org, we can over index on these underrepresented populations in medical research and increase their participation rates because we have the flexibility with the online model to reach them where they are, instead of needing them to come to us. This has been the focus for us in determining how to enable historically underrepresented communities to participate more in the research enterprise and make sure their unique attributes are being reflected in these libraries of data sets, where they haven’t shown up before.

 How does RCRF include diversity and health equity in its research initiatives and infrastructure?

Pattern.org was virtual before COVID-19 hit and that model of “patient informed consent” was a founding part of our operating model. COVID-19 was hard for Pattern.org in certain ways because people deferred elective surgeries – and we can only collect a fresh viable sample of a tumor, for example, after a surgery. Our patient volumes dropped because people weren’t going in for surgery for a big chunk of last year.

This year, we have started to turn a corner. The volume of surgeries has recovered and our research partners, including the MD Anderson Cancer Center and Memorial Sloan Kettering Cancer Center, have become more comfortable with telemedicine as a result of the pandemic.

We had historically thought of Pattern.org as a one-way highway driving from patients and their surgeries to research centers or moving viable tissue samples and medical records from patient to researcher to help drive research. We are now getting better and faster, which allows for a growing number of our research partners to generate actionable insights to potentially inform patient care. For the first time we can start to think about building the second lane of the highway from researchers and leading cancer centers back to patients, who have historically struggled to gain access to care for cancer.

We recently did a collection at a rural hospital in Alabama where a patient did not have the resources or means to travel to a comprehensive cancer center for care but did have the opportunity to donate their tumor sample to a research initiative with one of our research partners. The goal is to identify targetable mutations in a rare cancer which hopefully will lead to a drug combination that could be the most impactful for that patient based on their unique molecular profile. For that rural Alabama patient, we hope to identify those mutations and drug combination in time for them to make their next treatment decision. What usually happens is a rare disease patient visits a hospital in a rural area where the oncologist doesn’t get enough volume of any given rare cancer to really build the expertise to treat it. If Pattern.org can enable us to do molecular profiling at a center of excellence and get data-backed treatment recommendations to a patient and their local provider fast enough, we can start to reduce the disparities in patient outcomes in rural settings.

We are excited about our research partners, who are thinking of new ways to deliver medical services remotely, which was partially driven by having to do telemedicine during the pandemic. I am excited about reducing disparities with our research partners’ increased willingness and ability to generate treatment insights fast enough for patients and their clinicians to have better treatment options and make better treatment decisions.

Preferred social media:

I most frequently check my LinkedIn.

What is a hobby you picked up or enjoyed a lot during the pandemic?

I have been playing the game Go a lot recently and it’s been hard trying to find people in the US to play with. It is quite popular in East Asia, and I played it when I lived in Shanghai for about four years, where I worked on utility scale renewables, inter-industrial energy efficiency, and carbon financing under the United Nations. The game has white and black stones on a grid/board, and it has been known to be the hardest game, after chess.

The post Head of the Herd: Mark Laabs, Rare Cancer Research Foundation (RCRF) appeared first on NORD (National Organization for Rare Disorders).

Further aspirations ended when I was diagnosed with stage IV Leiomyosarcoma (LMS) pelvic bone cancer and given 3-6 months to live. I am just beginning to cope and on the road of recovery with plans to start a new life. I have a story to share and the opportunity to volunteer as a rare disease and cancer patient advocate has given me a purpose. In addition to being a patient advocate, I use my platform to share education and hope and discuss what it is like to survive a rare disease by hosting my show, “A Talk with Dianna ‘Survivor.’”. 

Being diagnosed with Leiomyosarcoma in 2004 was a death sentence. In addition, the survivor rate of this cancer was low, especially in stage IV. It was a challenge to be unable to walk for years and rely heavily on pain medications. I still suffer many side effects and another rare diagnosis, which is not yet understood by my team of medical professionals. It is difficult having “chemo brain,” especially when I look back at my achievements before LMS. 

The future is bleak as to all other rare disorders. If they lack funding for research and development, many people will die or suffer with several types of disabilities, which the health system is not yet equipped to deal with. It matters to tell your story because no one, including other rare disease patients, would know otherwise. 

The National Organization for Rare Disorders (NORD) is committed to telling the stories of patients and families with rare or undiagnosed diseases and helping them live their best rare lives. If you would like to share your story, contact NORD here. 

The post Dianna’s Story as a Rare Survivor appeared first on NORD (National Organization for Rare Disorders).

What I learned on my personal journey with a rare disease is there are many of us looking for support and connection. In addition to my own network of support, thanks to family, friends and doctors, I have found meaningful connections in support groups and in sharing my story with others. 

Being diagnosed with any serious disease is challenging, but there are specific issues people with rare diseases can face. Some of these include delays in initial diagnosis, lack of knowledge about rare diseases among primary medical teams, difficulty accessing treatment options, financial strain and inequalities in healthcare. I experienced some of these challenges personally. My diagnosis was delayed because when a tumor was found, I was pregnant. It was treated as a fibroid, and I spent my entire pregnancy with peritoneal mesothelioma but without knowing it. It wasn’t until five months after I gave birth that I found out what I really had.

My doctor at the time didn’t know much about my rare disease, which made learning about and accessing treatment more challenging. Fortunately for me, someone from my mom’s job told her about Dr. Edward Levine, a specialist who knew a lot about mesothelioma. I always say that I was in the right place at the right time because the specialist was in my hometown. 

As a woman diagnosed with mesothelioma at just 21 years of age, I didn’t fall into any of the usual categories. Mesothelioma is mostly diagnosed in men over the age of 65. Research now shows women make up nearly a fourth of mesothelioma cases, but rarely are those affected as young as me.

Before I was diagnosed with mesothelioma, I had never met anyone who had been diagnosed with it. After all, mesothelioma doesn’t get as much publicity as other cancers such as breast cancer or colon cancer. If a rare disease isn’t publicized enough, how will patients and families know which direction to take? 

I believe everyone has a story to tell and sharing it can help us feel less alone. Since connecting with groups like The Mesothelioma Center and sharing my personal story as a survivor, I’ve become an active part of support groups for people living with mesothelioma. I will continue to share my story with others on social media and on Asbestos.com to help raise awareness about this rare cancer. In doing so, I hope that my story helps readers with rare diseases feel less alone and feel empowered to make connections to help them navigate the challenges with support. 

The National Organization for Rare Disorders (NORD) is committed to telling the stories of patients and families with rare or undiagnosed diseases and helping them live their best rare lives. If you would like to share your story, contact NORD here. 

The post Loneliness, Connection and Mesothelioma: Tamron’s Rare Disease Story appeared first on NORD (National Organization for Rare Disorders).

One evening, I started cramping in my abdomen. I thought nothing of it until the intensity increased and I could barely sit upright or walk. I called my primary care provider and she recommended I go to the emergency room, as it could be appendicitis. I was nervous to go, as this was June 2020 and COVID cases were surging. My mom drove me in, and sure enough, it was appendicitis. I spent the night in the ER, got my appendix removed, and went home feeling much better.  

A few weeks later, I received a phone call from the surgeon who took out my appendix. I was driving and he asked me to pull over to the side of the road.  

“When we removed your appendix, we found a tumor. It’s cancer, and we need to see you on Monday.”  

Having a rare disease made me feel alone; there wasn’t a large movement or group to feel connected to. Before my diagnosis, I thought that most cancers were the same. Going through a cancer diagnosis and treatment has made me aware of just how different each patient’s experience is. With a rare cancer, it was harder to find resources that exactly explained or aligned with what I was going through. I felt in the dark sometimes, and I still do today. Now, I’m very aware of how underfunded and under researched rare diseases are. 

Many people with rare diseases struggle to get a diagnosis, and thus cannot properly begin treatment. I am lucky to have received my diagnosis quickly and to have started treatment quickly as well. Beyond the difficulty of receiving a proper diagnosis, it is equally as difficult to find the right specialists for treatment when they are so few and far between. When your disease is rare, the time it takes for a diagnosis and to connect with the right specialist can often make successful treatment and recovery more difficult. Timing and access are so important when treating these diseases. 

September 30 is #RareCancerDay, an annual awareness day devoted to shining a light on rare cancers and the issues people living with them face. NORD is highlighting the stories of the rare cancer community – learn more.

The post Timing and Access: Katherine’s Rare Cancer Story appeared first on NORD (National Organization for Rare Disorders).