Tamara Mulley's journey from suspecting endometriosis to a devastating cancer diagnosis highlights critical issues in healthcare, including diagnostic delays and the challenges of rare diseases. For nearly a year, Ms. Mulley, then 27, had been awaiting an appointment to investigate persistent bloating and hip pain, symptoms she believed pointed to endometriosis. However, before this much-needed gynaecology appointment materialized, an unexpected and severe cough led to a life-altering discovery: stage 4 cholangiocarcinoma, or bile duct cancer.

The progression to diagnosis was rapid and alarming. Ms. Mulley experienced unusual fatigue and breathlessness from her cough, prompting her GP to advise an A&E visit due to the lack of available appointments. A Friday night X-ray at A&E revealed a "little shadow," leading to a CT scan invitation for the following Monday. Subsequent investigations included a PET scan at The Cancer Centre at Guy's Hospital in London. It was around this time, a full ten months after her initial request, that Ms. Mulley finally received her gynaecologist appointment for suspected endometriosis.

Endometriosis is a common gynaecological condition affecting approximately 1.5 million women in the UK, or about 1 in 10 women of reproductive age. It involves the growth of endometrial-like tissue outside the uterus, causing pain, heavy periods, fatigue, and an increased risk of infertility, as well as bowel and bladder problems. Despite being the second most common gynaecological condition, diagnosis often takes over eight years, a delay exemplified by Ms. Mulley's ten-month wait.

Prioritizing the urgent investigations into her cough, Ms. Mulley received her stage 4 cancer diagnosis on December 23, 2023. Scans revealed widespread metastatic disease, with cancer having spread to her hip, spine, collarbone, multiple tumours in her lungs, and a large tumour in her liver. She vividly described the scans as lighting up "like a Christmas tree," indicating the extensive spread. Initially, doctors were unable to identify the primary source of the cancer, delaying a definitive treatment plan until after a lung biopsy performed on December 27.

The waiting period between the biopsy and consulting an oncologist was described by Ms. Mulley as the "hardest time" of her cancer journey due to intense anxiety about the cancer's progression. In the third week of January 2024, she received the confirmed diagnosis: cholangiocarcinoma, originating from her bile duct. The prognosis was grim; she was told it was "incurable" and that she would be "lucky" to be alive in two years.

Cholangiocarcinoma is a rare and aggressive form of cancer, with around 3,100 people diagnosed annually in the UK, according to Cancer Research. The disease has a notoriously poor prognosis, with only two to nine percent of patients surviving beyond five years. A significant challenge is late-stage diagnosis and a lack of awareness among medical professionals regarding available treatments, leading to over half of patients receiving no cancer-specific treatment at all, as reported by the charity. Common symptoms include fatigue, high temperature, jaundice (yellow skin), loss of appetite, itchy skin, dark urine, pale stools, nausea, and abdominal pain. Notably, Ms. Mulley only experienced weight loss and fatigue, highlighting the subtle and varied presentation of the disease.

Despite the dire prognosis, Ms. Mulley embarked on an intensive treatment regimen. She began immunotherapy drugs and responded well to an initial eight rounds of chemotherapy, which was subsequently extended to 15 rounds, a decision that doctors estimated bought her an additional six months. When chemotherapy eventually ceased to be effective, she was fortunate to join a clinical trial called First-308, a targeted therapy that has shown promise in shrinking some of her tumours.

Throughout her treatment, Ms. Mulley maintained a positive outlook and an active life, continuing to work at Heathrow Airport and socialise with friends, finding these activities crucial for her mental well-being. She required blood transfusions due to severe fatigue but was thankful not to lose her hair. Beating the initial two-year prognosis in January 2024 was a "real moment" of pride and a powerful motivator for her to share her story. "Passing that two-year mark was a real moment for me and one that I'm really proud of achieving," she stated, emphasizing that her experience offers hope despite the under-researched and underfunded nature of cholangiocarcinoma.

Ms. Mulley expresses profound gratitude for her medical teams and lives with the philosophy of "you only need to keep me alive long enough for the next drug to come out, for the next discovery to be made." She remains realistic but positive, advocating for a cure and highlighting the critical need for increased research and funding. She is actively supported by AMMF, the UK's sole registered charity dedicated to funding cholangiocarcinoma research. Ms. Mulley underscores the urgency of early detection, noting that while stage 4 diagnoses are often too late, "if it is found at stage one or stage two, it is survivable." Her story serves as a testament to resilience, the impact of medical innovation, and the crucial importance of early diagnosis in the fight against rare cancers.