One Woman’s Quest to Drive Desmoid Tumor Awareness

Brooke was only three years old when she first learned about desmoid tumors. “My mother had six or seven,” she recalls. Brooke’s mother also had 28 surgeries related to her desmoid tumors and multiple rounds of radiation and chemotherapy, which were the only treatment options available for her at the time.

Several years ago, Brooke began her own health battles when she had a mass the size of a lacrosse ball in her breast removed; only after two surgeries did she learn it was a desmoid tumor.

In March 2023, Brooke—then 40 years old—felt a sharp pain in her abdomen. Despite her earlier desmoid tumor diagnosis, she initially suspected something else. “I thought it was my gallbladder,” she explains.

The intense pain prompted Brooke to go to the ER where doctors concluded that she had a hematoma (a pool of mostly clotted blood) because she has hemophilia (a rare genetic blood disorder). “Even though it was aggressive and kept growing, I was denied care because they said it was a hematoma,” she says.

This dismissal went on for eight months.

Eventually, an MRI revealed that what doctors previously thought was a hematoma was in fact a desmoid tumor the size of a large grapefruit. “I looked like I was eight months pregnant,” Brooke says. She even named her desmoid tumor “Big Bertha.”

What are desmoid tumors?
Desmoid tumors—sometimes referred to as aggressive fibromatosis or desmoid fibromatosis— are rare, locally aggressive tumors that form in the connective tissues of the body. While they do not spread from one part of the body to another, these tumors have invasive, tendril-like growths and can wrap around tissue and compress muscles, vessels, nerves, and organs. “These little suckers are like little octopus tentacles,” Brooke explains.   

Desmoid tumors can cause severe pain, limited function and mobility, disfigurement, and can be debilitating for people living with them. In rare cases, when vital organs are involved, desmoid tumors can be life-threatening.

Desmoid tumors are most commonly diagnosed in people 20 to 44 years of age, and women are two to three times more likely to be diagnosed than men.

Unfortunately, Brooke’s challenges receiving an accurate diagnosis aren’t out of the ordinary: approximately 30 to 40% of desmoid tumors are initially misdiagnosed.

In one study, the time from onset of symptoms to diagnosis was over a year for more than half of the patients. During this time, they are left living with pain and other debilitating symptoms, just like Brooke.

Some of the physical symptoms of desmoid tumors can include:
● Pain
● Limited range of motion
● Fatigue
● Impaired mobility

How are desmoid tumors treated?
Soon after learning about the desmoid tumor in her abdomen, another desmoid tumor developed near her pelvis that was compressing her bladder and causing incontinence.

Brooke was wary of having surgery to remove her tumors. “I had post-op issues with my earlier surgeries,” she says. “It was very traumatic for my body and despite the surgeries, the tumors grew back.” In fact, up to 77% of people with a desmoid tumor can experience recurrence following surgical removal.

Today, experts and treatment guidelines¹ recommend medical therapy as a first-line active treatment option for desmoid tumors that are growing and/or symptomatic in most tumor locations.

Finding an FDA-approved treatment
When Brooke began exploring treatment options in September 2023, there wasn’t yet an FDA-approved medicine for desmoid tumors. Her healthcare team told her about a new treatment being considered for approval by the FDA called OGSIVEO^® (nirogacestat). In the meantime, they suggested starting chemotherapy, an off-label treatment.

“My doctor asked if I wanted to start chemotherapy or wait for OGSIVEO,” Brooke recalls. “I chose to wait because it was specifically studied for desmoid tumors.”

Brooke began taking OGSIVEO on December 30, 2023, just a month after it was approved by the FDA for adults with progressing desmoid tumors who require systemic treatment. With this treatment, her tumors shrank, and she also experienced a decrease in her pain.

Brooke also appreciates that OGSIVEO is a pill that can be taken at home. “I wouldn’t be able to do it if I had to go to the hospital every time,” she says, noting that as a single parent, she doesn’t have that kind of time.

Brooke felt it was important to share her story and experience with others. “This is what my mom wanted—more awareness for desmoids, because there isn’t enough,” she says.

Learn more about this FDA-approved treatment option at OGSIVEO.com.

This is Brooke’s personal experience only and individual results may vary.

Important Safety Information

What is OGSIVEO?

OGSIVEO is a prescription medication used to treat adults with progressing desmoid tumors who require a medicine by mouth or injection (systemic therapy). It is not known if OGSIVEO is safe and effective in children.

Before taking OGSIVEO tell your healthcare provider about all of your medical conditions, including if you:

● Have liver problems.
● Are pregnant or plan to become pregnant. OGSIVEO can harm your unborn baby. Tell your healthcare provider if you become pregnant or think you may be pregnant during treatment.
● Females who are able to become pregnant:
● Your healthcare provider will give you a pregnancy test before you start treatment with OGSIVEO.
● You should use effective birth control during treatment and for 1 week after the last dose. Talk to your healthcare provider about methods that may be right for you.
● Stop taking OGSIVEO and tell your healthcare provider right away if you become pregnant.
● Males with female partners who are able to become pregnant should use effective birth control during treatment with OGSIVEO and for 1 week after the last dose.
● Are breastfeeding or plan to breastfeed. It is not known if OGSIVEO passes into your breast milk. Do not breastfeed during treatment with OGSIVEO and for 1 week after the last dose.

Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.

You should avoid taking proton pump inhibitors (PPIs) and H2 blockers during treatment with OGSIVEO. Ask your healthcare provider if you are not sure if you take one of these medicines.

How should I take OGSIVEO?
● Take OGSIVEO exactly as your healthcare provider tells you to take it.
● Your healthcare provider may change your dose, temporarily stop, or permanently stop treatment with OGSIVEO if you develop side effects.
● Take OGSIVEO 2 times a day with or without food.
● Swallow OGSIVEO tablets whole. Do not break, crush, or chew.
● If you take an antacid medicine, take OGSIVEO 2 hours before or 2 hours after the antacid.
● If you vomit after taking a dose or miss a dose of OGSIVEO, take your next dose at your regular time. Do not take 2 doses of OGSIVEO to make up the dose.

What should I avoid while taking OGSIVEO?

Avoid eating or drinking grapefruit products, Seville oranges, and starfruit during treatment with OGSIVEO.

What are the possible side effects of OGSIVEO?

OGSIVEO can cause serious side effects, including:
● Diarrhea. Diarrhea is common with OGSIVEO and may sometimes be severe. Your healthcare provider may tell you to drink more fluids or to take antidiarrheal medicines. Tell your healthcare provider right away if you have diarrhea that lasts longer than a few days and does not get better after taking antidiarrheal medicines.
● Ovarian problems. Females who are able to become pregnant may have ovarian problems and changes in their menstrual cycle during treatment. OGSIVEO may affect fertility which may affect your ability to have a child. Tell your healthcare provider if you have any changes in your menstrual cycle or hot flashes, night sweats, or vaginal dryness during treatment.
● Liver problems. OGSIVEO can increase liver enzymes. Your healthcare provider will do blood tests to check your liver function before you start and during treatment with OGSIVEO.
● New non-melanoma skin cancers. Your healthcare provider will do skin exams before and during treatment with OGSIVEO if you are at risk for skin cancer. Tell your healthcare provider if you have any new or changing skin lesions.
● Electrolyte (salt) problems. Your healthcare provider will do blood tests to check your phosphate and potassium levels during treatment and may give you medicines to treat low phosphate or low potassium if needed. Tell your healthcare provider if you develop any muscle pain or weakness.

Tell your healthcare provider right away if you have any side effect that bothers you or that does not go away. Your healthcare provider may change your dose, temporarily stop, or permanently stop treatment with OGSIVEO.

The most common side effects of OGSIVEO are:
● rash
● nausea
● tiredness
● mouth sores
● headache
● stomach (abdominal) pain
● cough
● hair loss
● upper respiratory infection
● shortness of breath

OGSIVEO can affect fertility in females and males, which may affect your ability to have a child. Talk to your healthcare provider if this is a concern for you.

These are not all of the possible side effects of OGSIVEO. Call your doctor for medical advice about side effects. You may report side effects to the FDA at 1-800-FDA-1088.

Please click here for full Prescribing Information including Patient Information.

OGSIVEO is a registered trademark of SpringWorks Therapeutics, Inc. CORP_OGS_US_0027 10/24

Reference

¹Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Soft Tissue Sarcoma V.3.2024. © National Comprehensive Cancer Network, Inc. 2024.  All rights reserved.  Accessed October 24, 2024. To view the most recent and complete version of the guideline, go online to NCCN.org.  NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.

This article was originally published on sheknows.com.