Rare Community Profiles

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

How Stephanie’s Desmoid Tumor Journey Inspired Her Fight Against Medical Gaslighting

Medical gaslighting occurs when doctors fail to listen to your full symptoms, dismiss them without consideration, or don’t take your concerns seriously. Doctors may try to convince you that your symptoms are the result of something else, leaving you feeling frustrated or alone. Medical gaslighting may also be worse for women and underserved populations, according to an article in Health. For Stephanie Clark, medical gaslighting isn’t always intentional—but often results from doctors who have caseloads that are not conducive to the patients they are serving. On her own diagnostic journey, which culminated with a desmoid tumor diagnosis, Stephanie shares that medical gaslighting was a hallmark of her experience:

“Doctors came into the room, saw that I was a bigger girl, and the first thing they thought was that losing weight would help my symptoms. They stereotyped and passed judgment without taking the time to listen. When I did talk about what was going on, I felt like I was getting shut down. Medical gaslighting puts blame on the patients rather than figuring out how to tackle a problem together. If someone had listened to me when I said that something inside of me was really wrong, especially because I didn’t know how to put it into words, we might be in a different position right now.”

Stephanie now sees her life divided into two parts: before the diagnosis and now. Mentally, it was something she wasn’t prepared for—and as many people within the rare disease community know, there is a general lack of emotional support throughout and after the diagnostic journey.

In part, this is why Stephanie is choosing to share her story: to not only raise desmoid tumor awareness, but to advocate for better care and a renewed focus on combating medical gaslighting to create a healthier, more equitable, and more informed journey for patients.

Stephanie’s Story

For years prior to her desmoid tumor diagnosis, Stephanie had struggled with her health. There were many days when she felt fatigued or just like something was “off.” But numerous visits to her primary care physician, and the lab work that went alongside that, never found any signs of something wrong. Eventually, Stephanie was referred to a psychologist. The psychologist determined that Stephanie had some deeply rooted anxiety and depression, and also diagnosed her with post-traumatic stress disorder. Ultimately, her doctors believed that these were the root of her health issues.

Stephanie’s health journey seemingly worsened when she also developed physical symptoms in 2016-17. Her left side ached, especially when she tried to sleep, so she began having to sleep on her right side. She became a Certified Nursing Assistant (CNA) but found herself struggling to take care of her patients, sharing:

“Just getting them ready for the day was exhausting. I would end up drenched in sweat by the end of activities or tasks that should’ve been simple.”

Again, Stephanie returned to the doctor for help, but to no avail. She tried to explain her symptoms while her doctor waved her off. All she needed, the doctor said, was to lose weight. Without considering any other options, the doctor referred Stephanie to a weight and wellness clinic. She lost around 50 pounds. But even with the weight loss, her symptoms worsened: profuse sweating, profound fatigue, and exhaustion that made it difficult to get out of bed some days.

Congratulations, It’s a…

By November 2019, Stephanie felt frustrated, misunderstood, and—more than anything—absolutely worn out. A visible lump had formed on her back and her concern had grown immensely. Stephanie visited a dermatologist but faced the same care (or, shall we say, lack of care) that she had before. She shares:

“The dermatologist didn’t touch my back or even biopsy it. He just looked at the lump and told me that it was a lipoma, or fatty cyst. There was nothing to worry about, he said. He was pretty dismissive and just told me to continue losing weight. At that point, I knew there was something deeper going on. But I was in denial, and I didn’t know how to engage with my doctors. I got really terrible care. Part of that is on me for accepting it, but the dermatologist majorly dropped the ball. He could have caught my desmoid tumor over a year before my diagnosis.”

Instead, Stephanie spent the next year grappling with intense pain and continued and worsening exhaustion. In 2020, the pain grew so intense that Stephanie drove herself to the emergency room for care. A CT scan of her chest discovered a mass about the size of a grapefruit.

After the biopsy, Stephanie received a phone call from her surgeon. He was surprisingly upbeat on the phone. In fact, his first words to her were, “Congratulations! It’s a desmoid tumor.”

Looking back on that moment, Stephanie can’t help but feel anger and frustration well up inside of her. She says:

“I wondered why he was congratulating me. Frankly, it felt disrespectful. It’s a slap in the face and it undermines the disease. You can call a desmoid tumor whatever you want or say that it’s benign, but it is still treated with the same therapies used in sarcoma patients. I sat in a treatment room surrounded by cancer patients who received the same chemotherapy and steroid treatment I received. The difference was I felt their experiences were validated, justifiably so, but my experience was not. Mine was chalked up to ‘just’ a desmoid tumor. As a woman, chemotherapy took my hair. That was heartbreaking. I felt stripped of my beauty and robbed of my femininity and my youth. But still, my oncology team treats me as a patient with ‘just’ a desmoid. I am in a league of my own and nobody quite knows what to do with me or how to treat me, both literally and figuratively. It is hurtful. It is maddening.”  

Stephanie spent the weekend following her desmoid tumor diagnosis researching desmoid tumors (as she had never heard of them before) and exploring the resources on the Desmoid Tumor Research Foundation website.

What is a Desmoid Tumor?

Desmoid tumors, also known as aggressive fibromatosis, are abnormal growths that develop in connective tissue, which supports and connects your bones, muscles, and ligaments. Connective tissue is found throughout your body. Because of this, desmoid tumors can form anywhere in the body. But they are most commonly found in the shoulders, upper arms, abdomen, and thighs. People between 20 and 44 years old are more likely to develop a desmoid tumor, though these tumors can occur in people of other ages. These tumors are also more common in females than males.

A desmoid tumor cannot metastasize (spread) to other areas of the body, which is why it is not categorized as cancerous. However, desmoid tumors can grow tendrils and be locally invasive. They can also cause immense pain and other debilitating symptoms. Symptoms of a desmoid tumor may vary based on the location in the body, but could include:

• A mass or swelling
• Pain (in the affected area)
• Loss of function (in the affected area)
• Limping
• Nausea, cramping, or constipation (if occurring in the abdomen)

Desmoid tumors spontaneously regress in 20-30% of patients. In those whose tumor does not regress, treatment options may include chemotherapy, NSAIDs, radiation, and surgery. While surgery is generally effective, it is generally no longer recommended as a first approach because desmoid tumors recur or regrow up to 77% of the time following surgery.

Learn more about what a desmoid tumor is and how to speak with your doctor.

A Continued Battle for Care

Currently, Stephanie resides in Maine. But because there are very few sarcoma specialists in her state, she often travels to Boston to meet with her oncology team. They have the final say in her treatments, which began with oral chemotherapy. Unfortunately, her tumor grew while on oral chemotherapy. Stephanie was later switched to IV chemotherapy. While this shrunk her tumor by around 50%, she developed a full-body rash and gained around 60 pounds. After ten rounds of IV chemotherapy, Stephanie took a break from treatment. In January 2022, she underwent cryoablation with a nerve-block, which she has had twice since. Her latest MRI showed that the tumor is stable but has grown a tendril at the bottom; this tendril is pushing on her tailbone, causing excruciating pain. Although she is taking heavy-duty pain medication, they do not provide much in the way of pain management.

Stephanie would be willing to consider surgery as a treatment option, but her oncology team is unwilling to consider it. This is because her tumor has eroded six of her ribs. Therefore, surgery would also include the insertion of titanium ribs and total reconstruction of the chest wall. She asks:

“Considering what has happened to my body, how can someone look me in the eyes and tell me that this is a benign tumor?”

Advice for the Newly Diagnosed

Despite the struggles that she has faced on her journey, Stephanie remains motivated to making a change and helping others. She created the Faith Over Fear: Mom Battles Rare Desmoid Tumor page on Facebook, through which she details her personal journey, and the Desmoid Tumors and Family Support Group, which focuses on addressing emotional hardships for both patients and caregivers. Through this group, she has shared articles on how to start important conversations with your doctors or simply talked people through issues they have faced. She shares:

“I spend a lot of time chatting with folks who are newly diagnosed and aren’t sure where to turn. I try to teach them how to apply for disability or where to go to find a sarcoma specialist. I’m trying to be a mentor.”

What advice does Stephanie have? She recommends all desmoid tumor patients seek out the care and guidance of a sarcoma specialist over a general oncologist because desmoid tumors are complicated and need to be treated by trained professionals who specialize in sarcoma cancer.

She also reminds people to do their own research on desmoid tumors, especially on desmoidtumors.com. Finally, she feels that it is important for patients to network and connect with others.

But while this connection is important, it’s also necessary for people to take time to process. Says Stephanie:

“With any diagnosis like this, there is a level of grief, and it isn’t always linear. You need to let yourself grieve. Let your body have those days. It will get better. I don’t sit around and dwell about my disease anymore. Instead of thinking, ‘Why me?’ I try to think: what can I do to make this better? How can I use what happened to me for someone else? There’s a light at the end of the tunnel. You just need to go through it.”