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Here at the Histiocytosis Association we ended April strong and kicked the month of May off with a bang! Between all of us, we have attended three conferences in the past two weeks or so and the day this comes out, I will be at a fourth, the ASPHO Conference (American Society of Pediatric Hematology/Oncology) in Ft. Worth, Texas.

Today’s blog post will be a tale in three parts, the PCORI Rare Disease Advocacy Panel of which I am a panel member, the ECDGA International Conference attended by Melinda Atnip and Kathy Wisniewski, and finally the Global Genes Rare Drug Symposium attended by Peter Yanefski and Kristen Nesensohn.

Part I: Bringing the Histio Patient Voice to the FDA

In 2021, the Patient Centered Outcomes Research Institute’s (PCORI) appointed me to the Rare Disease Advisory Panel (RDAP). It has been an eye-opening and rewarding experience to see the work happening at the national level for rare diseases. On May 2nd, I had the opportunity to join the RDAP’s Annual Meeting in person in Washington, D.C. 

While I’ve been a panel member for a little over two years; this is the first time I have been able to meet in person as previous meetings were held virtually. This was an opportunity I will never forget. I hope to continue to find ways to partner with and learn from the other panel members in support of the histiocytosis community. 

There are two congressionally mandated panels that exist within PCORI, the Rare Disease Advisory Panel (RDAP) and the Clinical Trials Advisory Panel (CTAP). Both the RDAP and CTAP consider ways to help PCORI identify opportunities to overcome challenges for those with developmental challenges and/or rare diseases.  The panels have helped and continue to help PCORI with their strategic planning and developing best practices for recruiting diverse representatives (patients) into the research that PCORI funds. The panels have been active participants in helping to refine the topic themes and provide a framework for funding opportunities. They also help PCORI leverage input from all stakeholder groups and fill gaps that exist. This collaboration impacts the betterment of patient healthcare and healthcare outcomes. 

During the annual meeting, PCORI asks the panels to advise on strategic concepts and to provide examples and ideas for models that have worked well across various topics related to funding priorities and aims. This year, the RDAP helped to provide input on a draft framework to guide PCORI in research priorities for rare disease based on the gaps that exist and the scope/breadth of the rare disease journey. From initial signs and symptoms to diagnostic odyssey, to ongoing care and management. We discussed the critical importance of access, equity, caregivers/care partners, mental health, transitions of care, and the complex layers of the rare disease journey. 

Some Key Takeaways: 

• Rare disease has been officially added to the list of topic themes (12 total themes). Funding applications mainly focus around these themes. They will inform focused funding opportunities for clinical effectiveness research (CER). Funding Applications Encouraged Around Topic Themes | PCORI  
• PCORI will come out with a framework for the Rare Disease Care Continuum that will inform funding priorities and opportunities.
• They truly appreciate the RDAP and CTAP at PCORI. They offer immense insight and are diverse panels and represent a wide range of experiences and skills.
• Patient Advocacy Organizations can play a key role. Working with clinicians, investigators, industry, government, and families in a collaborative multi-stakeholder approach can help move the needle on a number of challenges, issues, and gaps.

Part II: Sharing Hope and Meeting Medical Professionals

Kathy: It was an honor to attend the recent ECDGA Conference from April 26-28.  Held at the Mayo Clinic in Rochester, MN, this was an excellent opportunity to build relationships with physicians, patients and families and strengthen our collaboration with this very important family group focused on the research of Erdheim-Chester Disease. As the Histiocyte Society Secretariat, it was also amazing and beneficial to meet a couple of physicians I had not had the chance to meet before.

The meeting consisted of a meet and greet and symposium for medical professionals, as well as an opportunity for patients and families to mingle with doctors at a banquet (there were 59 patients and families and about 50 physicians in attendance).  The conference ended with a full day of presentations by the doctors to the patients and families, as well as several breakout sessions.

Everything about this meeting was well-planned, well-organized, and overall, just wonderful. But to me, the very best part was seeing the looks on the faces of patients and families, hearing them tell their stories and express their immense and heartfelt gratitude for groups that do this kind of work.  They truly do appreciate everyone who works toward trying to help the community in any way – big or small. 

Melinda: The ECDGA International conference was amazing! For me, since my husband has Erdheim-Chester disease, it was extremely personal. My husband and I got to listen to and meet the best ECD doctors in the world. We were able to shake hands, give hugs, and ask some tough questions about new findings and the latest research.

Being with Dr. Goyal and Dr. Diamond was an honor and I also got to meet Dr. Go and Dr. McClain. I can finally put a name with a face on Dr. Paul Henrie and Dr. Eric Jacobsen. Also, I got to participate firsthand in a caregiver break out group with our most recent podcast guest, psychologist Allison Applebaum. A new doctor to note Jithma Abeykoon, MD. I think he is one of the smartest young doctors I have ever met.  

I particularly enjoyed seeing Barry connect with other ECD patients and share stories of their journeys. Barry was also asked to give a fun-filled short inspirational talk about HOPE. He is perfecting the art of storytelling and helping other fellow ECD patients through the process. It was exciting to finally meet support group caregivers and patients face-to-face for the first time. It was a much-needed homecoming after the four-year break in face-to-face events. We look forward to attending again next year and seeing how much closer we can get to a cure. 

Part III: From the Ground up

By Peter Yanefski
At the Rare Drug symposium in Philadelphia, PA, Kristen Nesensohn and I were mostly at an exhibition table, introducing the Histiocytosis Association to other rare disease organizations, pharmaceutical companies, and everything in between.

The crux of the symposium was on how these rare disease organizations, some old, some brand new, could propose, start or navigate drug trials for the disease they were representing. There was a lot that went over my head, being a communications professional, but these mostly family-led organizations were slowly becoming experts at it. During the break-out sessions, the points or questions they had contained so much jargon and initialisms I thought they worked for the FDA themselves.

This was especially striking to me and Kristen because we realized its not an area either of us have had to delve into, because we partner with the Histiocyte Society. The Society doctors are the ones who initiate and navigate the drug trials when they come about. They deal with the FDA and the pharmaceutical companies.

It makes us all the more grateful to go to a conference such as this and see that we have the Society helming these aspects, as we help to facilitate and fund their research. It’s a testament to all that we and they have built together.

Many other organizations present at the symposium were building their trials and research from the ground up, and I applaud them for that. When Jeff Toughill started the Association, he did the same thing, so it was great to share that perspective with all the younger organizations we met at our table, to encourage them to keep fighting. As they gain more resources, contacts and funding, it will get easier on them personally and become more of a team effort like we have now at the Histiocytosis Association.

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What’s Next

Coming up, ongoing on the day we release this post, is the conference for the American Society of Pediatric Hematology/Oncology in Ft. Worth, TX. Attendance is about 1200 pediatric hematologists and oncologists, mostly from the US, and we will be exhibiting there with the opportunity to share information about the Histiocytosis Association as well as the Histiocyte Society.

The information at our exhibit table will include details about the Histiocyte Society’s Annual Meeting and membership info for the Histiocyte Society, information about histiocytic disorders, a way to join our international physician finder, details about our care bag program which institutions can request for newly diagnosed patients, details about our peer support groups, and comprehensive information about histiocytosis research, trials and registries, including trials conducted through NACHO, AB2 Bio, UAB’s Survivorship Study, and the INTO-HLH Registry.

The Histiocytosis Association and Histiocyte Society will share a table to interact with the physicians in attendances during concentrated times such as their Welcome Reception, which are held in the exhibition hall, and insures maximum visibility. This has been a conference that we have jointly exhibited at for quite some time, and it is an honor to once again return! Can’t wait to share more with you – follow us on social media for some behind the scenes!