ePAG interviews
Posted on 22 January 2025
I am originally from Toronto, Canada. I have been living in Germany with my husband and our two sons since 2002. Sports, physical activity and being outdoors is an important aspect of my life, as is plant-based nutrition.
I am grateful to be an ePAG with GENTURIS as my life has been heavily impacted by cancer.
My great-grandmother passed away at the age of 43 from breast cancer. My grandmother, developed colon cancer at age 44. I was a toddler at the time. Soon thereafter, my mother and her three sisters were diagnosed with cancer, as well. The C-word had become a regular topic of discussion at our family’s dinner table.
An article about hereditary cancer in the newspaper in the late 1980s prompted my mother to call our family doctor. He arranged for a consultation by a geneticist. We learned about the possibility of the so-called ‘Lynch Syndrome’ gene mutation running in our family. This important meeting convinced us to join a study by the Ontario Familial Colorectal Cancer Registry (OFCCR) in Toronto, Canada. We became one of the first families in this new genetic research program for Lynch Syndrome.
In May 2018, at the age of 47 I underwent surgery for an aggressive and fast growing ovarian cancer. A small water cyst the size of a pea had grown to a grapefruit size tumour in just fourteen months. The complete hysterectomy resulted in life-altering surgical menopause which continues to challenge me today.
In December 2021, I had a Hemicolectomy surgery for a new primary cancer tumor in my ascending colon. Nine days later, a second colon operation was performed on January 1, 2022 due to a perforated anastomosis and sepsis infection in my abdominal cavity. The pathology results indicated that cancer was present in some lymph nodes. I was eligible to join an immunotherapy therapy study in which I received an infusion of Atezolizumab biweekly for one year.
Since the beginning of my own cancer journey I have been given many conflicting recommendations for therapy from different experts. I am incredibly thankful for the great strides in cancer therapy treatment for Lynch Syndrome patients.
I believe that the main obstacle for Lynch Syndrome patients is the focus on standard procedures based on the location where a tumor is discovered, rather than the importance of the genetic origination and a specific treatment. As a result the latest findings for Lynch patients with MSI-high tumor mutations are not always applied. I am confident that ERN GENTURIS can change standard procedures by incorporating precision medicine. This would be more efficient and more effective for both the doctor and the patient.
My first message is: Thank you for the research and collaboration worldwide in genetics and cancer.
My second message or impulse is to encourage more research regarding two areas: genetic polymorphisms (e.g. COMT, MTHFR) and the microbiome (e.g. Akkermansia muciniphila). A better understanding of these areas could provide important insights into the immune system of Lynch Syndrome patients. Early intervention could also mitigate health risks through means of dietary nutrition, nutraceuticals and healthy lifestyle interactions. Identifying different genetic SNP’s, such as cytochrome P450-2D6 could be extremely beneficial for pain management post-surgery. Patients who are newly diagnosed with a genetic mutation are often overwhelmed and desperate for guidance. Precision or personalized medicine as a standard in the future could play a key role in empowering patients with their health challenges.
This perspective for me as a patient, makes me very optimistic and hopeful for a healthy and happy future!
Posted on 22 January 2025
I’m Portuguese, and I spent 9 years living in France as a student. Now, I’m a proud mother of two healthy children and part of the Millennial generation that has embraced career changes and reskilled for the “jobs of the future". Recently, my focus has been on Global Communications & Culture, Future of Work and Employer Branding. Over the past 20 years, I’ve built my career in international roles across Marketing, Sales, and Human Resources, working in dynamic industries like Technology, Consulting and Travel. I’m also a speaker, trainer, and co-author. Outside of work, I love traveling, staying healthy and active, networking, and creating memorable moments with family and friends.
I was diagnosed first with goiter in 1994 when I was 13 years old, very luckily thanks to my mother, who is a former pediatrician and who noticed very quickly that I should do additional exams in the public hospital in Setúbal, and then later in the largest oncology hospital of Portugal, IPO Lisboa. When I moved to France I was then diagnosed with thyroid cancer in 1998 in Lille University Hospital when I was 17. After the thyroidectomy and radioactive iodine treatments, I had enjoyed all my years studying and moved back to Portugal for work, where I have been supported in IPO Lisboa with Dr. Helena Vilar or IPO Porto depending on where I lived. In 2017 I discovered a little bit by accident a basal cell carcinoma when I was 37, and due to the coincidence of having these 2 cancers at a younger age, I personally got intrigued and curious about the causes and if there was any genetic explanation. I also had a cousin who had a thyroid cancer as an young adult so I started to proactively require a Genetic testing for Cancer Risk in the public health system. I finally succeeded to do it with Dr. Marta Amorim in Hospital da Estefânia, where I finally discovered in 2020 that I had DICER1. Since then, I became a member of EVITA Association in Portugal, which Tamara Milagre has been leading the efforts about hereditary cancer awareness and prevention. In these last years I have focused in discovering more about this very rare genetic cancer syndrome, as there is not a DICER1 patient organisation to the date in Europe. There are many questions around protocol, not only for prevention but also about other topics which as a patient we look forward to knowing the answers.
I guess the patient journey is a little bit lonely specially because these are still new diseases, there is always a lot of missing information. Some of these diseases are really rare and new, and there may not be enough data to correlate a lot of facts and figures around it. Also in my country and even in France at that time (1996 to 2004) I also feel that all these years we treated cancer as an unfortunate disease which we could not really avoid at a certain stage or was caused by an external reason (as an example: smoking, alcohol, etc). But also we nowadays know that if we implement a larger study around the families and genetics influence, we might find interesting information which helps in prevention and survival also of hundreds of people in Europe.
I wish we could become faster and even better to deal with cancer overall and rare diseases. Maybe we could start a sort of genetics medical appointment to study direct family members of a cancer patient or survivor, so we could better understand the causes and inform timely what could be the best accurate next steps for prevention at the family level, not only in terms of medical exams, fertility, healthy lifestyle, etc. If we have larger data centralized in a platform such as Evita Platform, we could also know better the extension of hereditary cancer syndromes and do better research. We could also benefit from a more clear protocol and clear disseminated instructions and guidelines, such as the ones we all lived during pandemic Covid-19 situation. At the end, any doctor who knows about a patient with the history of cancer or which family has an history of cancer, should know the importance of genetic testing and to include it as normal procedure for the patient or survivor to accelerate the prevention in that family. Also there is the need of mental health and therapist support for these families who learn to adapt and to live in a different way as they learn and live all this journey.