Katherine was born into a world shaped by loss. Her older sister, Gracie, was diagnosed with Fanconi anemia (FA) shortly after the family moved to the United States from the Dominican Republic, seeking better medical care. Despite their best efforts, Gracie’s transplant was unsuccessful, and her parents were left heartbroken by her passing.

When Katherine was born, her parents were told she did not carry the FA gene—a momentary sigh of relief. But their world was once again shaken when a lab error was revealed, and Katherine, too, was diagnosed with FA. From the start, she was a fighter, with parents who believed in giving her every possible chance at life.

Katherine’s journey hasn’t been easy. At just eight years old, she underwent a bone marrow transplant, a procedure that brought both hope and fear. The transplant was successful, though not without complications. But thanks to her unwavering spirit and the donor community that helped make this treatment possible, Katherine survived.

And yet, as with so many people living with FA, the fear of cancer loomed large.

The Life-Saving Moment: Cancer Caught Just in Time

As Katherine grew older, she became determined to make the most of her life, excelling academically and dedicating herself to becoming a pediatric hematologist-oncologist to help children like her. But amidst her studies and advocacy work, something was wrong. Katherine started experiencing intense pain in her chest, a symptom that persisted despite numerous tests by her doctors, who told her everything was normal.

Frustrated but undeterred, Katherine continued to advocate for her own health. She enrolled in the FCF-funded cancer screening trial at the National Institutes of Health (NIH), a program supported by generous donors like you. There, in a moment that would change everything, her cancer was detected.

Thanks to early detection and quick intervention, Katherine’s cancer was caught and treated. She endured the grueling process of cancer treatment with the same resilience she’s shown throughout her life. But this time, she had something that made all the difference: hope.

The cancer screening trial that identified her cancer was made possible by donors who believe in the power of early detection and cutting-edge research, and by the dedicated researchers who work every day to save lives.

We Must Do More: Protecting People Like Katherine

While Katherine’s story is one of triumph, it also reveals the urgency of our mission. People with FA are 500-1000 times more likely to develop cancer than the general population. And without continued support for early detection programs like the one that saved Katherine, many will face cancer that is detected too late.

That’s why we’re pioneering the first-ever data platform for FA, developing cancer model systems for cutting-edge translational research, and advancing the groundwork for an FA cancer prevention trial. With your support, we can deepen our understanding of FA cancers and work towards a future where these cancers never develop in the first place.

We’re also investing in gene editing, a groundbreaking approach that targets and fixes the very gene mutations responsible for FA and the cancers that follow. This research has the potential to not only transform the lives of people like Katherine but also revolutionize how we approach cancer for millions of people.

Gifts Are Life-Saving

Katherine is alive today because of the FCF village, a dedicated community that includes people with FA, families, researchers, clinicians, advocates, caregivers, staff and volunteers. Her story of survival and resilience is just one example of the life-changing work that donor gifts make possible. But we cannot stop here. With continued generosity, we can not only save lives but also prevent the tragedy of cancer before it ever begins.

Click here to make a year-end gift.

The post It Takes a Village to Save a Life: Katherine’s Story appeared first on Fanconi Cancer Foundation.

When it comes to managing life with Fanconi anemia (FA), knowledge is power. That’s why FA researchers, adults with FA, and the FARF team have been working to increase education and empowerment for all people with FA. 

We’re proud to introduce FAexam, a brand-new app designed to assist individuals with FA in performing and documenting oral self-examinations.

The power of at-home screening

Driven by Christine Krieg, Executive Director of the German FA Support Group, and Eunike Velleuer, FA clinician and researcher, this app is a product of their long-running study “Reducing the Burden of Squamous Cell Carcinoma.” Through this 15+ year study, the team has seen hundreds of people with FA, inspecting their mouths for any spots or changes. During these visits, Christine and Eunike began educating people with FA how to conduct their own exams at home, which can be very helpful in monitoring oral health between visits to the dentist or ENT. 

It’s important to note that these self-screenings are complementary to regular, six-month visits to dentists or ENTs. They are not meant to replace regular doctor visits, but serve as an additional tool for care.

In addition to research, education and empowerment are key to intercepting cancer

Because people with FA are at a higher risk of cancer than those in the general population, it is essential to be proactive. That means not only practicing good oral hygiene, but also actively participating in screenings. The goal is to prevent any potential diagnoses from occurring too late, ensuring timely interventions and treatments.

Of course, when facing a something as terrifying as cancer, it’s natural to resist engaging with anything cancer related. That’s where the empowerment piece comes in. 

Enter: FAexam. This app provides the necessary guidance and resources to perform thorough oral self-examinations and it’s designed to empower users to learn about their care, participate in prevention, and even track their emotional well-being.

Who is the app for?

For those with a heightened sensitivity of the oral mucosa and who may experience oral lesions at an earlier stage, the app serves as a valuable tracking tool. It was designed for people with FA, but could even be used by others with higher risk of oral cancer, as well as physicians. 

Our recommendation is to initiate oral self-screening around age 16. Parents can also use the app to monitor their children’s oral health.

See what’s inside the app

• Step-by-Step Guide: Follow a detailed, user-friendly guide (and videos) on how to perform thorough oral self-examinations. FAexam allows you to draw directly onto a mouth map, ensuring clarity and precision during your self-examinations. Additionally, color-coded elements provide visual cues, making it easier to identify and understand different areas of concern.
• Automatic Reminders: Receive timely reminders to check in and perform your oral self-exam, ensuring consistency and a proactive approach to your oral care.
• Documentation Management: Easily track areas of concern and compare changes over time. Export your oral exam records and documentation to share with your care team. 
• Info Library: Access a comprehensive library of resources about Fanconi anemia, oral self-exams, and oral care tips.
• Mood Tracker: Track your moods and emotions related to your oral health journey, helping you monitor the impact of your self-care routine.

 How to get access:

You can download the app in the App Store for iPhone or the Google Play Store for Androids.

You can visit the informational library and watch the video all about oral-screenings at www.fanconi.de/faexam.

Note: this app is a collaborative project between individuals with FA from all over the world, the Fanconi Anemia Research Fund and the German Fanconi Anemia Support Group.

The post Introducing FAexam, the essential screening app for people with FA appeared first on Fanconi Cancer Foundation.