Patient and Caregiver Narratives

Laure C., a French national, found herself in a role no one ever wishes for: the caregiver to her husband, who was diagnosed with an aggressive form of metastatic colorectal cancer at the age of 42. With no prior symptoms or risk factors, the diagnosis came out of nowhere, and the cancer was already advanced, carrying a challenging BRAFV600E mutation. After six lines of treatment, Laure's husband passed away, marking the end of a two-and-a-half-year battle with cancer.

Their journey through cancer treatment took a turn when Laure, desperate for options, discovered the possibility of a clinical trial in Belgium for her husband. This was after the first and second lines of treatment provided in France had shown limited effectiveness. The trial was a Phase 1, targeting the specific mutations of her husband's cancer, and it offered a glimmer of hope at a time when options seemed to dwindle.

The trial was located at UZ Leuven in Belgium, a beacon for Laure and her husband in their darkest times. Despite the challenges of understanding a complex illness and navigating the medical system, Laure became her husband's advocate, researcher, and bridge to the world of experimental treatments. She connected with patient and caregiver communities online, particularly COLONTOWN, which became a vital resource in their journey.

Laure's proactive approach led her to discuss the trial with her husband's oncologists in Paris, none of whom were initially aware of it. With their validation, Laure reached out to the Principal Investigator of the trial, securing a place for her husband when he needed it most.

Despite a worrying hiccup with a medical error that almost derailed their plans, Laure's husband was eventually enrolled in the trial. The logistics of participating in a trial across borders were surprisingly manageable, with most expenses covered by French social security, though there were some initial out-of-pocket costs for consultations. Throughout the trial, communication challenges arose, not just with language barriers, but also in coordinating care between the trial site and their local oncologists. However, Laure bridged these gaps, ensuring her husband's care was seamless and that they were making informed decisions about his treatment.

The trial offered them six more months together, months that Laure considers a precious extension of her husband's life. It was a period marked by stability in his condition and a quality of life they hadn't dared hope for after his diagnosis.

Reflecting on their experience, Laure's advice to others facing similar situations is to consider clinical trials early on, to not rely solely on your local medical team for options, and to seek care at expert centres that facilitate access to trials and knowledge about them. She emphasizes the importance of overcoming psychological barriers to seeking treatment abroad, acknowledging that while her husband's trial investigator speaking French was reassuring, communication was sometimes challenging.

Laure's story is one of resilience, love, and the lengths to which we go for those we care for. Her journey highlights the importance of advocacy, the value of community support, and the potential life-extending opportunities that cross-border clinical trials can offer.

Laure is involved in the French patient organization Mon Réseau Cancer Colorectal, in the European association Digestive Cancers Europe and in the international patient organization COLONTOWN.

Natalia M.-W., a dedicated caregiver, and a passionate advocate in the fight against colorectal cancer, shares the profound challenges and learnings from navigating cross-border clinical trials for her husband. Diagnosed with stage IV colorectal cancer at 35, their family's life in Dublin, Ireland, took a dramatic turn as they embarked on a journey that led them to Argentina and Spain in search of hope and treatment.

Natalia's scientific background became a cornerstone in understanding and seeking out the most promising treatments for her husband. As the standard treatment begun to offer limited success for her husband, early on she presented their medical team in Ireland with clinical trial options. As their team did not support this endeavour, she deep dived into the complexities of colorectal cancer research and experimental therapies that could benefit her husband.

The journey through clinical trials was marked by a relentless pursuit of opportunities, beginning with an observational trial in Ireland providing key genetic information of the cancer. With no surgical options in Ireland, and limited benefit from chemotherapy they started screening for a clinical trial in Barcelona, but the enrolment was halted as COVID-19 hit Europe. They immediately engaged with a specialist clinical team in Argentina who cleared all active disease through surgery and chemotherapy giving them almost 2 years of respite. During this time they became parents for the first time.

Back in Ireland, the cancer recurred. New surgery and chemotherapy only offered a short time of disease stability. Motivated by her husband's determination to live Natalia's resilience and decisiveness shone through. She leveraged every resource, from online communities like COLONTOWN to personal contacts within the medical field, to identify and access potentially life-saving trials which led them to Madrid for a new interventional trial in 2023.Yet, the path was fraught with obstacles.

The main challenges they faced included accessing the pre-screening for trials, bearing the financial burden of travel, accommodation and day-today medical expenses outside the experimental protocol managing the logistics and costs of maintaining residences in two countries and imposed additional expenses for childcare. Moving abroad severely affected their career's progression which will have long-term financial effect for their family. The emotional toll of being away from their support network caused severe stress that contributed to exacerbating some side effects of the experimental treatment.

Throughout this ordeal, their family faced the absence of official guidance or support, navigating bureaucratic and administrative challenges on her own to establish residence for the 3 of them in a new country when there is no provision to do so in the context of cross-border trial access. She emphasises the importance of exploring all local options before considering a cross-border trial, consulting with medical teams, and carefully evaluating the financial, logistical, and emotional implications of such a decision.

Natalia's story is a testament to the courage, love, and perseverance of caregivers and patients facing the daunting world of cancer treatment and clinical trials. It is also proof that clinical trials and cross-border care can be critical paths to life-extending or even life-saving treatments for those facing a terminal illness. Her recommendations for those considering cross-border trials highlight the need for thorough preparation, clear communication with medical teams, and the importance of seeking support networks to navigate the journey ahead. Natalia continues to work as a scientist living between Madrid and Dublin. She is an active advocate in the CRC space. She became a self-taught clinical trial librarian and data analyst for Paltown Foundation supporting education of an international network of 10,000 colorectal cancer patients and caregivers. She is also a contributing member of Bowel Cancer Ireland.

Special Case: Compassionate use access cross-border.

Tina and Dalibor B., parents living in Croatia, faced every parent's nightmare when their daughter, Adriana, began having epileptic seizures at three and a half years old. Until then, Adriana was growing just like any other child, alongside her healthy older brother. But after her first seizure, things started to change rapidly and for the worse. The seizures increased, therapies didn't work, and their daily life turned into a series of hospital visits and tests without answers.

Doctors were baffled by Adriana's symptoms, which grew to include loss of speech and balance problems. Tina's insistence on finding answers led them to explore every possible avenue, from private doctors to alternative therapies, yet nothing stopped Adriana's decline.

Hope came when Professor Prpic from the children's hospital ordered comprehensive tests, eventually diagnosing Adriana with an incredibly rare and devastating condition—neuronal ceroid lipofuscinosis type 2 (CLN2), part of a group of disorders known as Batten disease.

Grasping at this chance, the family did everything required to qualify Adriana for the therapy, including moving over 1300 km to Hamburg, Germany. It was a leap of faith—leaving their life in Croatia behind to give Adriana a chance for life. Adriana started the therapy just before her fifth birthday, a time when the disease had already significantly impacted her abilities.

The therapy, provided compassionately by the pharmaceutical company BioMarin, was administered at the University Medical Centre Eppendorf in Hamburg. It didn't promise a cure, but it offered hope to slow the progression of the disease. The family found solace and support in the medical team there, led by Dr. Schulz, who managed Adriana's care with professionalism and kindness.

Since starting on Brineura, Adriana's life has been transformed. She's gone from barely walking and speaking only a few words to being a vibrant, active girl who attends school, plays, and laughs. This remarkable turnaround has defied every grim expectation for children diagnosed with Batten disease.

The family's story is one of incredible resilience and hope in the face of a devastating diagnosis. Their journey from Croatia to Germany, driven by their love for Adriana and their determination to fight for her life, is a powerful testament to the strength of the human spirit. Their experience with cross-border clinical trials not only saved their daughter's life but also offers hope and guidance to other families facing similar challenges.