Leg Pain at 28 Led to a Rare Cancer Diagnosis
How Sandra Miller turned four years of unexplained pain and a dismissed stress diagnosis into a mission to raise awareness about desmoid tumors — and the breakthrough targeted treatment helping her live an active life again.
When a Lingering Ache Won’t Go Away
For Sandra Miller, the trouble began shortly after surviving what felt like the hardest chapter of her life. She had been involved in two severe accidents that left her with multiple pelvic bone fractures. After an agonizing six-month recovery, relearning how to walk and slowly piecing her daily routine back together, she hoped the worst was finally behind her.
Instead, at age 28, a new and unsettling sensation took over: persistent numbness and tingling deep in her right upper thigh.
At first, Sandra tried to shrug it off as an aftershock of her injuries. But the tingling wouldn’t stop. When she brought the concern to a doctor, she was met with an answer that too many patients with rare diseases hear: it was just stress. Without ordering any tests or performing a thorough physical examination, the physician advised her to manage her stressors and let the symptoms fade on their own.
Sandra did everything she was told. She tried yoga, took up meditation, and even began seeing a therapist. Yet the sensation didn’t just linger — it evolved. The mild tingling deepened into a constant, gnawing pain.
Four Years in the Dark: From Tingling to Debilitating Pain
Over the next four years, the pain steadily intensified from manageable discomfort to an agonizing, daily ordeal. Simple everyday activities became nearly impossible.Walking became uncomfortable. Driving was a struggle. Focusing on work slipped away, and restful sleep disappeared entirely. Living in relentless pain took an enormous emotional toll, leaving Sandra exhausted and irritable.
“I was in a bad shape,” Sandra later recalled during an interview on the health show GoToHealth with host Jonathan Marx and UCLA sarcoma specialist Dr. Noah Federman. “I had to advocate for myself, went back to the doctor and demanded basically more answers, explaining that I now live four years with this pain, these symptoms that are not going away and clearly not stress-related.”
Her persistence forced the medical system to look deeper. Her doctors finally ordered imaging studies. In 2021, scans revealed an abnormal growth embedded deep within the soft tissue of her leg. A subsequent needle biopsy confirmed what four years of stress advice had missed: Sandra had a desmoid tumor.
It was the first time she had ever heard the name.
What Is a Desmoid Tumor? Understanding Aggressive Fibromatosis
Desmoid tumors — also known medically as aggressive fibromatosis — are rare growths that arise in connective tissues throughout the body, including muscles, tendons, ligaments, and fascia. Because they originate in soft tissue, they are classified and treated under the broader umbrella of sarcomas.
While desmoid tumors are technically non-cancerous in the traditional sense — meaning they do not metastasize or spread through the bloodstream to distant organs the way malignant cancers do — doctors and researchers emphasize that they can behave with extraordinary aggression locally.
As Dr. Noah Federman, a Hematology Oncologist at UCLA and partner with SpringWorks Therapeutics, explained:“Desmoid tumors can affect surrounding tissues. They can be quite aggressive and infiltrative and cause serious, debilitating, and even life-threatening conditions depending on where they’re located.”
Because these tumors infiltrate between muscle fibers, wrap around blood vessels, and press against major nerves, they frequently cause severe pain, swelling, limited joint mobility, and nerve-related sensations such as Sandra’s early numbness and tingling.
Key Facts About Desmoid Tumors
- Extremely rare: Only about 1,000 to 1,650 people are diagnosed with desmoid tumors in the United States each year, representing just roughly 3% of all soft-tissue tumors.
- Strikes young adults: The majority of patients are diagnosed between ages 20 and 45 — though cases have been documented in toddlers up to seniors over 80.
- More common in women: Desmoid tumors show a female predilection, though men are also affected.
- Can appear anywhere: Tumors can develop in the abdomen (intra-abdominal), the chest wall, head and neck, and the extremities — particularly the arms, legs, and pelvis.
- Tied to trauma and genetics: Desmoid tumors sometimes arise at the site of prior physical trauma or surgical scars, as in Sandra’s case following severe pelvic injuries. They are also linked to genetic conditions such as Familial Adenomatous Polyposis (FAP).
Why Desmoid Tumors Are So Difficult to Diagnose
Sandra’s four-year journey to an accurate diagnosis is tragically typical. According to Dr. Federman, most community physicians have never encountered a single patient with a desmoid tumor throughout their entire careers.
Furthermore, the initial symptoms — deep-seated pain, tingling, localized numbness, and stiffness — closely mimic far more common musculoskeletal complaints, including sports injuries, muscle strains, trauma recovery issues, and nerve compression. Without advanced imaging (such as MRI or CT) and an expert biopsy reviewed by a pathologist experienced in soft-tissue tumors, desmoid tumors can easily be overlooked or misdiagnosed as scar tissue, keloids, cysts, or benign lipomas.
For Sandra, the diagnostic turning point came only because she refused to accept vague reassurance and pushed for specialized imaging and a biopsy.
A Revolution in Treatment: Why Surgery Is No Longer the Default
For decades, the standard approach to a desmoid tumor was straightforward: cut it out. But as surgeons and oncologists discovered over years of following patients, aggressive surgery often caused more harm than good. Because desmoid tumors weave deeply into healthy muscle and connective tissue, complete removal is difficult, and the surgical trauma itself frequently triggered the tumors to grow back.
“When I started taking care of these patients in the early 2000s, we recommended surgery for almost all patients. And with that, the tumors almost always came back,” Dr. Federman noted.
Today, management has shifted dramatically toward a personalized, multidisciplinary approach:
- Active Surveillance (“Watch and Wait”): Because some desmoid tumors grow slowly or even stabilize on their own, careful monitoring with regular MRI scans is often the initial strategy.
- Systemic Targeted Therapy: When tumors are actively growing, causing debilitating pain, or threatening vital nerves and organs — and cannot be safely removed — medication that works throughout the entire body becomes essential.
- Multidisciplinary Sarcoma Centers: Patients benefit most when care is coordinated by a specialized team, including medical oncologists, surgical oncologists, radiation oncologists, radiologists, and specialized pathologists.
OGSIVEO® (Nirogacestat): The First FDA-Approved Targeted Therapy
In Sandra’s case, surgical removal was ruled out due to the tumor’s intricate shape and proximity to critical structures in her leg. But unlike patients diagnosed twenty years earlier, Sandra had access to a breakthrough that fundamentally changed desmoid tumor care: OGSIVEO® (nirogacestat).Approved by the U.S. FDA, OGSIVEO is the first and only approved prescription therapy for adults with progressing desmoid tumors who require systemic treatment (medicine by mouth or injection). It is currently the most prescribed systemic therapy for this condition.
How OGSIVEO Works
OGSIVEO is not chemotherapy. It is an oral targeted therapy that works by inhibiting an enzyme called gamma-secretase. This enzyme plays a central role in the Notch signaling pathway — a cellular communication route that desmoid tumor cells rely on to grow and survive. By blocking gamma-secretase, OGSIVEO helps stop the tumor cells from multiplying.
What the Clinical Evidence Shows
The landmark DeFi clinical trial — the largest randomized, double-blind study ever conducted in desmoid tumors, published in The New England Journal of Medicine — evaluated OGSIVEO against a placebo in 142 adult patients with actively growing tumors:
- 71% reduction in disease progression: Patients taking OGSIVEO were 71% less likely to see their tumor grow or worsen compared to those taking placebo.
- Tumor shrinkage: A significant proportion of patients experienced meaningful tumor shrinkage (an objective response), with tumors beginning to shrink at a median of 5.6 months into treatment. In some patients, tumors disappeared completely on scans.
- Pain relief: More than half of patients entered the trial suffering from tumor pain, and those treated with OGSIVEO reported meaningful reductions in worst pain scores compared with placebo.
Living with the Tumor — But Reclaiming Life
For Sandra, starting OGSIVEO marked the first time in years that the relentless cycle of worsening pain was interrupted. Working closely with her healthcare team, she found a dosing schedule that effectively balanced disease control against the drug’s side effects.
“The tumor itself is still there, but the symptoms and the situation is way more manageable,” Sandra shared. “We were able to narrow down the doses and how I can adapt to the side effects to make life more manageable and basically in a normalcy. I’m currently still taking OGSIVEO, my symptoms are manageable, and I can work, attend to my hobbies, and be active at this time, so I’m pretty happy.”
Because her tumor remains inoperable, Sandra expects to stay on therapy long-term — but the difference in her daily quality of life is profound. The woman who once couldn’t drive or sleep because of leg pain is now back at work and sharing her journey with audiences across the country.
Recognizing the Signs: When to Push for Answers
Sandra’s story carries an urgent message for anyone living with persistent, unexplained symptoms. If you or a loved one experiences any of the following, do not hesitate to seek further medical evaluation:
- A growing, firm lump or mass in the leg, arm, chest wall, neck, or abdomen that does not resolve within a few weeks
- Deep, aching pain that progressively worsens over months rather than improving
- Nerve sensations such as unexplained numbness, tingling, “pins and needles,” or weakness radiating down a limb
- Decreased range of motion, stiffness, or difficulty bearing weight that standard physical therapy does not relieve
- Persistent symptoms in the area of a past surgical incision, fracture, or traumatic injury
If initial evaluations dismiss persistent symptoms as stress or a simple muscle sprain, ask specifically for advanced imaging (MRI or CT) and request a referral to a sarcoma center or a physician experienced in soft-tissue tumors.
Sandra’s Message: You Are Your Own Best Advocate
Looking back on a decade-long ordeal that began with two traumatic accidents, an agonizing four-year diagnostic delay, and finally an inoperable tumor, Sandra’s passion is clear: no one should have to endure years of unanswered pain alone.
“I know how rare this condition is, but I’ve also experienced what impact it can have on your life and your daily activities,” Sandra said. “Advocate for yourself, seek answers, and encourage somebody to dig deeper. If you know there is something wrong, go see a specialist. Feel that you are heard, feel that you are seen — because as rare as this condition is, there are resources and specialists there to help.”
Dr. Federman echoed her conviction:
“As a patient, you are your own best advocate. Always ask your healthcare providers for more information and on resources. For the first time in the history of desmoid tumor treatment, we now have a medication that is approved.”
Where to Find Help and Learn More
- OGSIVEO Official Website & Patient Resources: Visit ogsiveo.com to explore the Doctor Discussion Guide, Treatment Tracker, and the OGSIVEO Patient Support Program.
- The Desmoid Tumor Research Foundation (DTRF): dtrf.org — the leading global organization funding desmoid tumor research and connecting patients and families.
- Sarcoma Foundation of America (SFA): curesarcoma.org
- National Organization for Rare Disorders (NORD):
rarediseases.org - National Comprehensive Cancer Network (NCCN): nccn.org — patient guidelines for soft-tissue sarcomas.
Sources: “Understanding Desmoid Tumors,” GoToHealth podcast interview featuring Sandra Miller and Dr. Noah Federman (UCLA); OGSIVEO® (nirogacestat) Prescribing Information and educational resources at ogsiveo.com; The New England Journal of Medicine DeFi trial results (Gounder M, et al., N Engl J Med. 2023;388(10):898–912).
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