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May. 11, 2022

TOPIC: Patients & Members, Patient Stories

NORD Hosts the Largest Gathering of a Rare, Post-Transplant Cancer in History

Posted by Rohan Narayanan

Post-Transplant Lymphoproliferative Disorder (PTLD) is a rare cancer related to organ and stem cell transplants, as well as Epstein bar disease. There is no nonprofit organization dedicated to this community and the last known gathering involved less than a dozen patients and caregivers, pre-pandemic. When NORD learned of interest in this disease to share patient and caregiver stories with the US Food and Drug Administration (FDA), we immediately started working with the patients and caregivers in related transplant communities with known advocates impacted by PTLD. 

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

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.