Patient & Caregiver Stories

A year ago, Emma was experiencing chronic daily pain and using a walking stick and mobility scooter due to her desmoid tumor. Nothing touched the pain. She started chemotherapy, but eventually got the news that her tumors were growing. She felt hopeless and defeated. But then she learned that she qualified for a clinical trial. Though skeptical, she hoped participating would help advance desmoid tumor research and help others. Since starting the trial, Emma’s pain and mobility have improved and her tumor has shrunk.

“The trial has not been without side effects and it has been intense. However, since starting, my pain has reduced, my ability to walk has improved, and my tumour has shrunk by 25%. Science, medicine, and research is an amazing thing, and I am thankful for this turning point in my desmoid journey.”

In 2020, Brendan’s doctor found a lump in the back of his neck during a physical exam. A couple of weeks later, a biopsy revealed that the mysterious lump was a desmoid tumor. Unfortunately, Brendan’s tumor grew while on his first treatment, forcing him to switch to another, more cumbersome therapy.

“My family, friends, and the kids I work with give me the hope in my fight against my desmoid tumor.”

Onalenna is an active person, competing in marathons and regularly exercising at the gym. In 2017, while doing some sit-ups, she noticed a non-painful lump on her lower right abdomen. She was referred to an oncologist and initially misdiagnosed and given an inappropriate treatment. She is now undergoing chemotherapy while trying to balance her career in finance and her family life as a wife and mother.

“I was literally the only person with this condition in the country, hence it was confusing. My doctor did a lot of research and traveling to help me…It has been a tough period…My son gives me hope and strength to fight for my life and be well. I am grateful for the gift of life and pray for a cure.”

After a well-child visit at the age of two, Aila was diagnosed with a desmoid tumor where the pediatrician noticed a bump on her jaw. At the time, surgery was recommended. Aila’s surgeon was able to achieve clear margins, but had to remove half of Aila’s lower jaw and replace it with a graft of her own rib. Unfortunately, although her tumor has not recurred, she has required another extensive surgery and likely has a few more procedures to come. No matter what comes next, her mother, Sara, will be right by her side.

“My daughter, Aila, inspires me to keep fighting for a cure. She is so brave and we are so proud of her for all she has been through with a positive attitude. We are determined to help find a cure!”

Gabby was diagnosed with a desmoid tumor in her right calf muscle in August 2021. Like most patients, she had never heard of a desmoid tumor before her diagnosis. She was shocked to learn how rare they are and that she was unlucky enough to have one. Gabby is taking part in a clinical trial and hoping it will not only help her, but also help advance desmoid tumor research.

“I have been taking part in a clinical trial to help find a cure for desmoid tumours, and while the side effects can be challenging it is giving me hope that we are getting closer to finding a cure for this life changing disease.”

Dakota received her B.A. in biology from Bryn Mawr College in May 2011 and a Familial Adenomatous Polyposis (FAP) diagnosis two months later. Reluctantly, she traded in her post-college job for surgical gowns to have her cancerous colon removed. While working abroad in 2013, she noticed another trick up FAP's sleeve and was diagnosed with a desmoid tumor. If anything, she says this tumor confirmed that while she hoped to be one in a million, statistically speaking, she's closer to four in a million. Patient advocacy fills the void left by her colon and her former job title. As the Associate Director of Global Patient Advocacy at BioCryst Pharmaceuticals, she ensures that the voices of rare patients and the nonprofits that serve them are heard and supported. She's the co-founder of Young Adult Cancer Connection which hosted Cancervention, Philadelphia's first young adult cancer conference, and the creator of FAPulousTV, the first YouTube Channel dedicated to discussing FAP. Her rarity status came in handy while leading the Community Engagement Team for three years at rareLife solutions. The other diagnoses she contends with include an active chocolate addiction and the travel bug.

"My desmoid diagnosis made me realize that I could not simply put my health challenges neatly in a box and move on. Instead, I was going to have to learn how to live with this disease and in order to do so, I needed to meet others who could relate. The young adult ‘cell mates’ I have connected with are just as responsible as the medical treatments I have undergone for me still being here today."

Sharp pain and a lump in the left lower abdomen area led Paola to visit a doctor while studying in Florida, US in June 2020. It wasn’t until October that she had an MRI that confirmed a 4.5 cm mass in her abdominal wall. She was initially misdiagnosed with metastatic cancer, but after surgery the pathologist determined that it was a desmoid tumor. The surgery also revealed that there were actually two tumors in the same area. An MRI in August 2021 confirmed that the surgery was a success and Paola is currently tumor-free.

“Although I am currently living tumor-free, I understand that there are high possibilities of recurrence and that the recovery from surgery has been long and sometimes challenging. This is the reason why I still hope for a definite cure for desmoid tumors.”

Gerald says his desmoid tumor journey began with “literally a pain in the neck.” After seeing a lump on his left shoulder, he went to urgent care the next day and was told it was a lymphedema and “nothing to worry about.” But the pain wouldn’t go away. An MRI left more questions and Gerald was sent to a surgeon for removal. The pathology revealed it was a desmoid tumor. Unfortunately, the tumor grew back in four months and was removed a second time. It grew back for the third time. Fortunately, after undergoing treatment, the tumor has disappeared.

“Having this condition has left me feeling alone due to the medical professionals not really knowing what to do. However, with prayer and complete trust in God, I know I will get through this journey!”

Priscilla has struggled with desmoid tumors for over 12 years. The first one in her armpit and scapula area was 25x20 cm and was surgically removed. She went six years without a recurrence, but in 2020 doctors found three new tumors in the area. Her tumors have stabilized and she continues to follow up with an oncologist. Although she doesn’t experience pain most days, she still has some pain local to the site of the tumors.

“Patients with a desmoid tumor suffer from chronic daily pain (apart from irreversible damage), and only we know and feel what it is like. True family and friends support in the best way - giving love, affection and shoulder to cry on when everything seems to fall apart - but there are still people who judge it as something unimportant because it is not considered malignant.”

When Lilah was two, a tumor started growing in her wrist. After surgery, the pathology came back as a desmoid tumor. Although the surgeon had clear margins, the tumor grew back twice as big a few months later. Lilah is eight now and her desmoid is still in her wrist, but it has remained stable.

“I get nervous wondering if or when it will grow again, and what might happen with my desmoid in the future. It’s in the wrist of the hand I write with, and I love to write and draw and do acro and tumbling, so I hope that it won’t prevent me from doing what I love someday.”

Jigna was diagnosed with desmoid fibromatosis in March of 2016. She struggled to find appropriate treatment and a doctor who had experience with this rare disease. After two surgeries in 11 months, she turned down the possibility of a third. She started medical therapy with the support of her doctor. The side effects were difficult and the tumors continued to grow. In 2019, a severe fever nearly took her life, but she survived. Six months later, her MRI showed her tumor had reduced to a non-measurable nodule. It continues to be stable.

“My family, daughter and husband were a big support. Seeing my daughter, I was getting energy to fight this rare tumor. Today, I am working full-time [as a gynecologist] to serve my infertile patients. Smile on their face is the biggest energy booster for me.”

In 2016, Charlotte began to complain of pain in her pelvic area. After several misdiagnoses, it was confirmed that Charlotte had a desmoid tumor. Charlotte’s mom Rebecca was up late each night searching the internet for answers. They traveled around Australia talking to different doctors and trying different treatments, many only available privately at significant cost. Unfortunately, multiple chemotherapies and procedures couldn’t stop the tumor growth. Out of therapeutic options, Charlotte underwent massive surgery to remove the tumor, which left her not only with abdominal mesh and lost stomach muscles, but with the inability to have children. Despite these life-changing challenges, Charlotte eventually returned to working with animals and is studying again. As a mother, Rebecca’s biggest struggle was the burden of feeling alone in being Charlotte's advocate since doctors weren’t familiar with her disease.

“I felt a huge, often overwhelming, sense of responsibility to be thoroughly educated so that I could ensure my daughter got the best treatment available.”

In early 2021, Ana was diagnosed with a desmoid tumor of the right clavicle area. With very little information available, she had many questions and concerns about the radical surgery being recommended by her physicians. Through research, she was able to find a sarcoma center in Spain and chose a more conservative treatment method to address the growth and pain from her tumor.

“On this journey, I have learned that we must fight, and now I see that our doctors need more training in these rare diseases [to be able to] give all the information and options to patients to make the decisions that make us feel the most good.”

The doctor joked that he had heard of fathers-to-be having sympathy cravings, but never growing a sympathy bump. However, the mood quickly changed as scans showed Jason had a mass the size of a volleyball in his abdomen that was tied to his bowels. That very night, Jason’s wife went into labor and they became first-time parents to a healthy little girl. Amidst the joy and chaos of having a new baby, Jason got a biopsy and was told he had a desmoid tumor. Less than a month after his daughter was born, Jason underwent major surgery. He lost a sizable portion of his large and small intestine, but doctors had to leave a tumor that was wrapped around his mesenteric artery. They also found that his abdomen was full of other small tumors they could not previously see on scans. Jason was put on a medical therapy but experienced significant side effects. He was finally able to tolerate the drug at a reduced dose and his tumors have been stable ever since. This year, Jason and his wife welcomed their third daughter and count their blessings every day. The confidence and stability offered through treatment, continued research, and alternative drug options allowed him to move forward with his life. 

“Despite all we’ve been through, I count my blessings every day. I’m aware that throughout my story the theme of luck appears regularly… I am equally as aware that not all patients are so lucky, and I’ll continue to advocate for all of us as strongly as I can.”

Gabe was diagnosed with a desmoid tumor in June 2021, after discovering a lump on his neck. At the time, the lump was not much bigger than the size of a walnut, but over time, the tumor grew. He has been through three different therapies with little to no improvement. The current treatment of weekly infusions of two chemotherapies, makes it difficult to continue to play the sport he loves. For as long as he can remember, Gabe has spent all of his free time in the gym playing basketball or watching his brother play basketball. He looked forward to the possibility of playing basketball at the college level after graduating high school. Now, the teen isn’t able to play as often and doesn’t have the same stamina or strength that he used to. Gabe recently stopped his latest treatment due to no change in his last MRI. He will now start his fourth option of oral chemo and cryoablation.

“I am a player, captain and continue to enjoy basketball. I am hopeful that one day, through continued awareness and research, a cure for desmoid tumors becomes available.”

Reyna used to be a very active person, but a car accident when she was 19 changed that. Not long after, Reyna started feeling pain in her hip. The first doctor she saw misdiagnosed her with hip bursitis, so she was very surprised when eventually she had a lump the size of a softball in her hip. Walking became difficult and her hip would lock making her demanding job even harder. Reyna believes she may have had a desmoid tumor in her hip for two years before it was officially diagnosed.

 “Living with a desmoid tumor has been the most life-changing experience…I guess the positive of all this is having to slow down and get to know myself and what my body is telling me. I have hope that things can get better.”