Recognising Hereditary and Rare Cancers – An Overview from our Member Organisation FAPA
This article was kindly contributed by Katlijn Sanctorum (pictured below) of the Belgian Familial Adenomatous Polyposis Association (FAPA).
Patients with hereditary tumor syndromes often receive a late diagnosis. Most patients only know that there is a family component to their disease at the time of cancer incidence and when the tumor is analyzed. On top of having to deal with the diagnosis, there is the fear of passing the disease on to the next generations. Familial polyposis (FAP) and Lynch syndrome are two hereditary colorectal cancer (CRC) syndromes. These syndromes account for approximately 4% of CRC incidence and concern a relatively small number of people. But who are they? With Rare Disease Day on February 28 and Lynch Syndrome Awareness Day on March 22 fast approaching, it seems an excellent moment to give voice to these underexplored and still unknown diseases and introduce the Digestive Cancers Europe community to our work.
National Cancer Registries, a Life-Saving Activity
Patients who are diagnosed with FAP or Lynch need follow-up and support throughout the entire patient journey, starting from the time of diagnosis, in their communication with family members, in understanding the impact of predisposition and in being introduced to their care path. Since the late 1980s, it has been considered good practice to create guidelines for the follow up of these patients and to establish national registries. Registries already exist in countries such as the UK, The Netherlands, Denmark, Finland, Sweden and Belgium. Studies consistently report 1 that registration and screening result in a reduction of cancer incidence and mortality in patients with FAP and Lynch syndrome.
In 2023 we will celebrate the 30th anniversary of the Belgian polyposis register, managed by FAPA. This register covers individuals with FAP (N=480) and Lynch syndrome (N= 245) for which the register has existed for the last 10 years. With such registers, FAPA aims to better assess the needs of patients and to contribute to scientific research in the field of rare hereditary disorders.
Supporting Patients – Guiding People Through Nutrition When Living with a Rare Digestive Cancer
For our registry, FAPA collaborates with healthcare professionals in the hospitals. Similarly the organisation works with other healthcare professionals to support the patients and their families.
Such a collaboration can also be found in our nutrition project that was started to support patients in finding a new diet after abdominal surgery. The project has been based on a process of co-creation of a tool with dieticians and patients. The ‘logbook’ merges dieticians’ professional knowledge and the patients’ experiential knowledge bringing the two perspectives together. The content aims to inform, to support and to empower patients by way of improving health literacy.
To begin they receive information about surgery and its impact on digestion. Furthermore, it has a chapter with concrete ‘tips and tricks’ and a list of ingredients to introduce gradually after surgery. In addition, it contains a tool for observation and annotation. Patients can note down what they eat, what the ingredients were, what method of preparation they used, what symptoms occurred afterwards and what the context was during the meal. Stress for example, seems to have a huge impact on digestion and the symptoms linked to it.
Now that the tool has been introduced among patients, feedback moments are organized on a regular basis. Patients use the possibilities to provide feedback through personal contacts with team members or by using the digital diary, accessible via the website and visible for patients and professionals who are admitted to the community.
New Patient Support Projects on the Horizon
This and other projects are an excellent way of involving patients and that is what FAPA stands for: an organization based on the demands and needs of patients and family members. Other needs that will be addressed in future projects are ‘going back to work’, ‘preparation of the medical encounter’, topics that can be summarized under the title of ‘body positivity’, just to name a few of them. Projects and tools are also an excellent opportunity for collaboration internationally – they are an opportunity to share knowledge and experiences.
About FAPA and our Vision for the Future
FAPA was founded in 1993 with the goal of assisting doctors in informing FAP patients and their families about the risks, testing and diagnosis and treatments options that are available. It has four team members and manages the registries and assists clinicians, epidemiologists and researchers in the follow-up of patients. For three decades FAPA was supported financially by the Belgian Foundation Against Cancer.
But times are uncertain. There is still too little interest for the value of national patient registries, despite long existing evidence. Unfortunately, we are moving towards government-run registries that serve policy rather than patients. There is a need for organizations to join forces across borders to advocate for patient-oriented registries. Let’s organize this under the wings of DICE!
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1. Barrow, P., M. Khan, F. Lalloo, D. G. Evans, en J. Hill. 2013. ‘Systematic Review of the Impact of Registration and Screening on Colorectal Cancer Incidence and Mortality in Familial Adenomatous Polyposis and Lynch Syndrome’. BJS (British Journal of Surgery)100 (13): 1719–31. https://doi.org/10.1002/bjs.9316.