September is Desmoid Tumor Awareness Month: Sharing Amy and Jeanne’s Stories (Pt. 2)

Before you read on, please make sure to check out Part 1 of our interview, where we discuss what a desmoid tumor is, and share Amy’s story of living with a desmoid tumor. Today, we speak to Jeanne about her experience, the Desmoid Tumor Research Foundation, and how you can help raise awareness. 

Jeanne’s Story

In 2001, Jeanne was experiencing a number of different non-specific symptoms that seemed like they might be related to a potential urinary tract or gynecological issue. But as she pursued a diagnosis, the answers were hard to find. Then, when she was undergoing an ultrasound of her back, Jeanne’s gynecologist found a tumor. Jeanne explains:

The doctor told me that I’m fine from a gynecological perspective, but I had a mass that was preventing her from seeing my kidney.

Jeanne’s doctor referred her to a surgeon and, less than one week later, Jeanne underwent surgery to remove a grapefruit-sized tumor from her body. After that, Jeanne visited an oncologist who told her that most doctors don’t see more than one desmoid tumor in their entire career. Because of that, the oncologist said, Jeanne should visit a specialist or someone more experienced. She shares:

I went to Memorial Sloan Kettering because they are among the top centers which see more desmoid tumors than any other cancer center in the U.S. Even there, all they could tell me was that some treatments worked for some people. It was difficult because there was very little research and no clear protocol for treatment at that time.

Much like Amy, Jeanne went through multiple forms of treatment. Her tumor recurred following surgery, so Jeanne was started on a targeted therapy for a year, followed by another 18 months of chemotherapy.

Frustrated by the lack of protocol, Jeanne wanted to make a change. After connecting online with a colleague whose husband was also diagnosed with a desmoid tumor, the pair decided to launch the Desmoid Tumor Research Foundation in 2005 with a goal to increase research, support patients, and discover better therapies.

The Desmoid Tumor Research Foundation (DTRF)

Jeanne describes the DTRF as:

The only Foundation in the United States that focuses on desmoid tumors and funding research. Our mission is to aggressively fund research to accelerate the development of improved therapies and, ultimately, a cure for desmoid tumors. We fund research at some of the top sarcoma research centers and are known as the primary organization for initiating and funding collaborative projects designed to move the science forward.

Some of the projects that the Desmoid Tumor Research Foundation has helped to fund include:

The development of a patient-reported outcome tool that has been translated into 15 languages and is being validated in multiple ongoing clinical trials. This has the potential to greatly impact the science and gives more depth to clinical trial results.

Basic research into discovering the initiating tumor cell and the two main mutations. Through this, the DTRF has also encouraged research into the impact of chemotherapy and different treatments on desmoid tumors. Jeanne hopes that this research will help the DTRF improve diagnosis, treatments, and quality-of-life.

Financing the creation of the Global Consensus Paper on the management of desmoid tumors. The DTRF collected different areas of this article from experts around the world, offering an overview on the various treatment options and care. Treatment can vary based on location. For example, treating a desmoid tumor in a limb is different from treating one in the deep abdomen. This Global Consensus Paper on the current science has been critical in building patient understanding when they visit their doctors, and has also helped physicians guide their treatments. The paper was first published in 2020 and is set to be updated during an international meeting in 2023. Jeanne shares:

We are continuing to update this paper as science evolves and clinical trials come out with results. Being able to provide this consensus, research, and collaboration within rare disease is, itself, very rare. We’re just very happy and proud to be facilitators for this since it’s really for the benefit of the patient.

DTRF Resources

The Desmoid Tumor Research Foundation offers a wealth of resources for patients, families, and physicians. For patients, the DTRF offers information about clinical trials. The Foundation works closely with pharmaceutical companies for national and international trials, including the largest trial to date in the field of desmoid tumors. While there are no FDA-approved treatments for a desmoid tumor, Jeanne and the DTRF hope that one of the current major trials will eventually result in an approved therapy.

Additionally, the DTRF offers major educational programs for both physicians and patients. During the annual patient meeting, there are a number of informative talks and opportunities to ask questions. Attendees learn about desmoid tumors and treatments, advances in research and the patient experience. These annual meetings are held the third week in September. Additional educational opportunities such as webinars and Facebook Live events are held throughout the year. Jeanne shares:

One important program we run is our mental health program. This helps patients and their families deal with desmoid tumors and teaches tools on how to cope with the far-reaching impact of this disease on mental health and daily life. Our patient programs show patients that they are not fighting along.

On the physician side, the DTRF annual Research Workshop comprises up to 200 doctors from over 70 different institutions in 30 countries. While this workshop has been held virtually for the last few years, the DTRF hopes to launch an in-person event soon to help raise awareness and spread research knowledge.

The Virtual Tumor Board

Perhaps one of the most influential resources offered by the DTRF, and one that particularly stuck out to me during our interview, was the Virtual Tumor Board. Jeanne explains:

We bring together a collection of multidisciplinary physicians in a virtual meeting to look at the disease from multiple viewpoints. Our quarterly board allows doctors and experts to join virtually from anywhere in the world to present a difficult desmoid tumor case and receive insight and advice from other experts. This is really critical because even the top experts run into treatment walls and appreciate the collaboration from colleagues. We also get presentations from doctors in far corners of the world who may have little insight into treatment, so it is invaluable for them to be able to gain expert advice and provide better care to their patients.

During the Virtual Tumor Board, doctors can understand how to read and analyze scans, evaluate the pathology, and learn how to ensure a correct diagnosis and effective treatments. This is especially important as there tends to be a great deal of misdiagnosis with desmoid tumors. To combat this, the DTRF also created the first desmoid tumor patient registry in the United States that collects self-inputted data and cultivates a better understanding of how to combat or confront a misdiagnosis. The DTRF is proud to have developed a supportive and collaborative community for patients, clinicians, and researchers where people can work together toward the benefit of better treatment rather than just working in silos.

DTRF Accomplishments

Outside of the amazing culture of support and the wealth of resources, the DTRF has accomplished a great deal within the rare disease space over the last few years. In 2021, the DTRF won two major awards: the NORD Abbey S. Meyers Leadership Award and the Global Genes Champion in Advocacy Award. Jeanne shares that the DTRF is so excited to have gotten these awards and to be spreading awareness on a more global level.

Additionally, the Connective Tissue Oncology Society (CTOS) will be holding its Annual Meeting later this year. There are over 50 subtypes of sarcoma, with desmoid tumors existing under this larger umbrella. Desmoid tumors were named Sarcoma of the Year for the November 2022 CTOS Annual Meeting. Jeanne shares:

We are going to be able to hold our own special webinar, separate from the meetings, that focus on desmoid tumor science. I’m going to be the opening speaker for this webinar to talk about the patient journey. We are just so thrilled that they chose us and that we can work to increase awareness and understanding around desmoid tumors.

Raising Awareness for Desmoid Tumor Awareness Month

So now you might be wondering – how can YOU raise awareness for Desmoid Tumor Awareness Month? Luckily, the DTRF has some great options for you. We’ll spell out a few below, but also check out the various ways you can get involved on the DTRF website:

  • One way to get involved is to donate to the DTRF to help spur research into desmoid tumors, treatments, and a potential cure. Your funds can help make a difference.
  • Attend an event. The DTRF is offering a number of live streams over the coming month, such as “5 Mental Health Tools for Desmoid Patients” on September 21st at 4pm ET. These events can help increase your knowledge about desmoid tumors and coping with a desmoid tumor, while also sharing insights from patients.
  • Join in on the Together We Will virtual weekend! We talked a bit about this above, but you can register and join this virtual weekend from September 23rd-25th. Learn, connect, and find new ways to get involved. Additional details are available on the DTRF website.
  • Share your story (or others)! Head to social media and share your own story using hashtags such as #DesmoidAwareness, #DesmoidTumorAwarenessMonth, and #DesmoidFacts. If you see a story that speaks to you, share it with others, like, comment, or otherwise engage. You may also submit your story to the DTRF!
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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