It is incredibly important to raise awareness of rare and underserved conditions; this increased awareness not only helps to spread the stories of those affected, but to garner support, connect the community, and spur research. September is Desmoid Tumor Awareness Month.

Initially founded in 2016, Desmoid Tumor Awareness Month centers around sharing information about desmoid tumors, and allowing patients and caregivers space to share their stories. Recently, I sat down with Jeanne Whiting, co-founder of the Desmoid Tumor Research Foundation (DTRF), as well as Amy, both of whom have been diagnosed with, and underwent numerous forms of treatment for, a desmoid tumor.

Amy and I discussed her experience with a desmoid tumor, the need for increased understanding, and advice for those who are newly diagnosed. With Jeanne, we talked about her own experience, why she co-founded the DTRF, and the different ways that you can help raise awareness and amplify voices this month.

What is a Desmoid Tumor?

Desmoid tumors are abnormal growths that arise from connective tissue, or the tissue which offers flexibility and strength to muscles, bones, and ligaments. In most cases, individuals will only have one desmoid tumor form, though it is possible to have more than one. These tumors can arise in different places throughout the body. Jeanne explains:

Desmoid tumors are rare, with only around 1,500 people diagnosed each year. They’re categorized as ‘benign’ in the sense that they don’t metastasize, but they can be very aggressive locally, invasive, and even life-threatening depending on the location. These tumors can cause severe deformity and pain, restrict movement, and impede daily function. Doctors might say that we’re lucky because it is benign but desmoid tumors are serious. Mine was wedged between multiple life-affirming organs and it was a deadly threat to my life. Others, if they’re in the limb, can be intertwined with nerves and cause horrific pain. They impact the patient’s quality of life hugely and need to be taken very seriously when considering treatment.

Amy shares:

I explain a desmoid tumor as how I feel personally, that it’s a type of cancer. It is benign, but it’s something foreign in my body that is causing havoc. Its ‘fingers’ go through muscle and latch onto bone, and it can be incredibly painful.

The DTRF explains that around 90% of desmoid tumors arise sporadically and have a mutation in the CTNNB1 gene. Having conditions like familial adenomatous polyposis (FAP) also increases the risk of developing a desmoid tumor. Women are also 2x more likely than men to develop this tumor. Symptoms related to desmoid tumors vary based on the location in the body. These can (but do not always) include:

• Pain
• A mass or swollen area
• Constipation
• Cramping or nausea
• Joint movement restrictions
• Difficulty moving the arms/legs
• Limping
• Urinary or gynecological issues

While desmoid tumors can be removed surgically, an estimated 30-50% of patients see tumor recurrence within the next five years.

Learn more about desmoid tumors.

Amy’s Story

Currently, Amy is living in Cincinnati with her husband and three children. Her first pregnancy went by fairly smoothly with no cause for concern. But during her second pregnancy, she began experiencing certain issues. In particular, she was having some difficulty using the restroom. Doctors attempted to treat her for what they thought might be urinary tract infections (UTIs) or kidney stones, but nothing seemed to ease her symptoms.

When Amy was seven months pregnant, the doctors decided to do a more comprehensive check. She explains:

Because I had placenta previa and was considered to have a high-risk pregnancy, the doctors weren’t able to check me regularly. When they finally decided to ‘go in,’ they found the tumor. The doctors said that they didn’t know what it was, which was scary, but it was even more scary because we had to wait until I was no longer pregnant to do additional testing.

At the time, Amy received little information from her doctor, which she explains left her feeling somewhat unsure. Six months later, Amy visited the oncologist for further examination and surgery to remove the tumor that was characterized as a ‘nerve bundle.’ However, due to its location on her pelvic bone, surgeons were unable to remove the entire tumor; about 10% was still left in Amy’s body. It took about two weeks following the surgery for her to receive a diagnosis of a desmoid tumor. Her oncologist conducted as much research as possible on desmoid tumors to inform Amy on what to expect, but there was very little information available at that time:

The information was pretty much that ‘you have this’ and it was benign. I had to do a lot of my own research, which said that if I got the tumor resected, I would be fine.

Unfortunately, over time, she felt the tumor growing back. She visited the oncologist to discuss and has undergone many other treatment options:

IV chemotherapy, pill chemotherapy, a ton of options over the next few years. It was very detrimental to my body. On top of that, I deal with a lot of pain. You don’t realize how pain can affect you until you’re dealing with it.

Since then, Amy has tried another route – cryoablation – which she feels is going pretty well. Of course, given the fact that desmoid tumors are unpredictable, there is no insight into how well or how long the cryoablation will work for. She shares:

Cryoablation has risks but I needed to do something. Right now, we just have to wait and see. I’ll get an MRI at the end of September and see where we are then. Doctors said it’s a possibility that I may need to do it again, but we’ll figure it out. For now, I think the cryo worked somewhat and I’ll take any small victory.

New Relationships

Since being diagnosed with her desmoid tumor, Amy has learned how this type of diagnosis can impact one’s life. On one hand, she says:

A bunch of doctors are afraid to even touch me because they don’t know how to handle a desmoid tumor. I’ve had to do a lot of explaining and I’ve had surgeries and complications, so I’ve had to see a bunch of specialists.

On the other hand, she is also very thankful for her strong support system and some of the great doctors she has connected with. She shares:

If it wasn’t for my doctors, my family, and our research, I would’ve been totally lost. I’m one of five and so is my husband, so we have a huge family. They keep up on what’s going on and are always there when I have an appointment. It’s tough sometimes because I don’t want to take attention off of my kids just because I’m dealing with this, but I know that my family will always step in and help. My doctors are also wonderful. They’ve learned with me and my desmoid specialist always points me in the right direction.

For others, Amy advocates to seek out a sarcoma specialist who can help. She shares:

It’s important to get the right information and to get your pain under control. I realized that my anxiety or depression would spike when the pain was bad, so I had to learn how to control that. You can’t be ashamed by having to do that. You have to get your mind right, and a specialist can be very helpful there.

Jeanne agrees with Amy on the importance of a desmoid tumor specialist, saying:

Finding a specialist can offer a multidisciplinary approach to your treatment, not just from your average oncologist or physician. Get another opinion or get to a sarcoma center so that you’re getting the most up-to-date approach.

The Family Impact

Because of her desmoid tumor, Amy was told that, if she wanted another child, the family would have to use a surrogate. She explains:

I can’t carry my own children anymore. Doctors aren’t sure what feeds my desmoid tumor. To take that risk of getting pregnant would be a huge risk. It was really difficult, emotionally, to deal with at first. But I’ve come to realize that this is nothing to be ashamed of. I have a desmoid tumor but it doesn’t define me. I can still live my life and create this beautiful family. People have reached out to me and asked how to process fertility struggles from a desmoid tumor, and I’m just so honored to share my story and have people put their trust in me.

Advice for Patients and Families

When asked to share what she felt was the most important advice to share with others, one thing Amy focused on was acceptance. Denial can be a powerful tool and a form of escapism. Yet it can also be overwhelming and all-encompassing. Amy explains:

Once you accept that you have a desmoid tumor, it’s easier from there. You have to accept that this is your new life, but you can’t let it overcome you. It isn’t who you are. It can feel so lonely and isolating because it is so rare. But fighting, and taking charge, is powerful. I had to accept it when I had a two-year-old and was seven months pregnant. The unknown is scary, but once you know, you can do something about it. If you don’t have a huge support system, find it. Reach out on Facebook or to the DTRF or other online communities and find people who can understand what you’re going through. And remember, it does get better. It really does.

Join us in Part 2 as we discuss Jeanne’s story, the Desmoid Tumor Research Foundation, and how YOU can help raise awareness during Desmoid Tumor Awareness Month!