Advancing a Natural History of FA-Associated Cancer

Investigators: Neelam Giri, MD, and Lisa McReynolds, MD, PhD
Institution: National Cancer Institute, NIH
Funding Amount: $249,950

Drs. Giri and McReynolds will continue their work developing an evidence-based cancer screening program for individuals with FA through supplemental funding to their existing NIH Center Comprehensive Program. Their project studies the natural history of oral potentially malignant lesions (OPMLs) and investigates biomarkers of carcinogenesis.

The NIH cancer screening program has already enrolled more than 80 participants and collected thousands of biospecimens. By collaborating with other FACC investigators, the team is analyzing DNA damage in these samples, offering valuable insight into how cancer develops in FA. Their work will help establish effective early detection strategies and create a robust biorepository for future cancer research.

Developing a DNA Ploidy Analysis Platform

Investigators: Martial Guillaud, PhD, and Denise Laronde, PhD
Institution: BC Cancer
Funding Amount: $95,787 — Funded by Fanconi Canada

This project builds on ongoing collaborations among BC Cancer, the NIH, and the University of Düsseldorf. Drs. Guillaud and Laronde are developing an automated DNA ploidy analysis platform for oral brush samples from individuals with FA.

This innovative, noninvasive method enables frequent monitoring of cellular changes over time, providing critical insight into how precancerous lesions progress. Earlier detection and intervention can lead to better outcomes and a deeper understanding of FA-related cancer development. FCF extends sincere gratitude to Fanconi Canada for their continued partnership and support of this research.

Reducing the Burden of Squamous Cell Carcinoma in FA

Investigators: Eunike Velleuer-Carlberg, MD, and Christine Krieg
Institution: University of Düsseldorf; German Fanconi Anemia Family Support Group and Research Fund
Funding Amount: $74,366

This project continues the long-running “Reducing the Burden of SCC in Fanconi Anemia” initiative, first funded by FCF in 2006. Dr. Velleuer-Carlberg and Ms. Krieg lead efforts to advance oral cancer screening through education, outreach, and research.

Their work has shown the effectiveness of brush biopsy screening and continues to promote awareness among individuals with FA, clinicians, and dentists. Ongoing DNA ploidy analysis of pre-malignant cells will improve early detection and expand understanding of cancer progression in FA.

Testing Chemoprevention Approaches for Oral Cancer

Investigators: Agata Smogorzewska, MD, PhD, and Rachel Uppgaard, DDS
Institution: Rockefeller University; University of Minnesota
Funding Amount: $250,000

With a 500–700 times greater risk of head and neck squamous cell carcinoma, individuals with FA face a pressing need for prevention strategies. Building on findings from FCF’s collaboration with Stand Up to Cancer, this multi-institute clinical trial evaluates naproxen and metformin as potential chemopreventive drugs for oral cancer. The study will assess both safety and biological markers of cancer prevention, establishing the framework for future chemoprevention trials in FA.

A Shared Commitment to Progress

The Fanconi Anemia Cancer Consortium brings together scientists, clinicians, and advocates from around the world who share a mission to reduce the burden of FA-associated cancers. FCF’s continued investment in this work—and the collaboration of dedicated partners like Fanconi Canada—helps drive meaningful progress toward earlier detection, improved care, and ultimately, prevention.

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At the 2025 Fanconi Cancer Foundation Scientific Symposium in Minneapolis, the Foundation presented its Lifetime Achievement Award to Dr. John E. Wagner, MD, in recognition of his decades of groundbreaking work and unwavering commitment to improving the lives of people with Fanconi anemia (FA).

The award was introduced by Lynn Frohnmayer, co-founder of the Fanconi Cancer Foundation, who reflected on Dr. Wagner’s remarkable influence on the field, and on her own family’s journey. “I recently wrote to John telling him I’d be introducing him for this award,” she said. “He replied, ‘Ha ha. This makes sense. You got me into this—and what a journey it has been.’”

A Legacy of Compassion and Discovery

Dr. Wagner serves as Professor of Pediatrics, Co-Director of the Center for Translational Medicine, and Founding Director of the Institute for Cell, Gene and Immunotherapies at the University of Minnesota. His pioneering research in cellular therapies has transformed the landscape for children and adults with FA.

Lynn recounted how, in the 1980s, families affected by FA faced devastating barriers to care. “If you had a child with FA and no matched donor, you could not find a transplant center willing to help,” she said. “One huge concern was graft-versus-host disease, a potentially lethal complication.”

At that same time, Dr. Wagner, then at Johns Hopkins, was developing an innovative method called counterflow elutriation, which removed specific immune cells from donor marrow to reduce the risk of graft-versus-host disease.

In 1994, when Lynn and her husband, David, learned that their daughter Kirsten had developed leukemia, they turned to Dr. Wagner for help. He agreed to try the new elutriation approach with her, the first time it had been used in an FA transplant. “He was a magnificent physician,” Lynn said. “Brilliant, deeply caring, creative, and forever willing to try a new approach when faced with a challenge.”

Left: Dr. Wagner accepting the Lifetime Achievement Award from FCF Co-Founder Lynn Frohnmayer (L) and Board President Lisa Mingo (R)

Right: Dr. Wagner with his family

Transforming Transplantation for FA

Dr. Wagner went on to pioneer the use of umbilical cord blood as a source of stem cells for transplant, a breakthrough that has since saved countless lives. His work also advanced the idea of embryo selection, allowing parents to conceive a healthy, genetically matched sibling who could serve as a stem cell donor. This innovation led to the birth of FA patient Molly Nash’s brother, Adam, in 2000, an event that captured global attention and opened new ethical and scientific conversations.

Another of Dr. Wagner’s lasting contributions came through his 1998 Fanconi Anemia Research Fund grant to test the safety and effectiveness of a then-novel drug, fludarabine. The results were transformative: transplant survival rates for individuals with FA rose from 15–20 percent to more than 60 percent, and later to over 90 percent today. “Literally overnight,” Lynn said, “we went from near-hopeless odds to outcomes we could only dream of.”

A Journey of Bold Ideas

In his acceptance remarks, Dr. Wagner reflected on that journey with humility and humor. He shared stories from his early days at Johns Hopkins and the many families, scientists, and clinicians who shaped his work. “As every parent would say,” he noted, “we don’t have enough time. We have to have bold ideas. We have to take risks.”

He revisited the controversies and ethical challenges surrounding embryo selection, recalling debates with religious leaders and global media attention that led to threats to his own safety. However, he emphasized the value of open, respectful dialogue between science, ethics, and faith, a point shared with him by Pope Benedict when he was invited to the Vatican in 2011.

Dr. Wagner closed his remarks by honoring the individuals with FA whose courage has guided every advance in his career. “We have to take chances because we might make a difference,” he said. He recognized his colleagues, his wife, Lisa, and the many families who trusted him with their care. “These are the true pioneers,” he told the audience, inviting all who had participated in FA research and treatment to stand together.

Before concluding, he offered a message to clinicians and researchers carrying the work forward: “Engage the public. Tell the truth, even when it’s hard or not well received. Think deeply about what should be done, not only what can be done. Collaborate with ethicists and always keep your promises to the people you serve. Even when an experiment doesn’t achieve what you hoped, learn from it, because that learning will move the field forward.”

Continuing the Work

Today, Dr. Wagner’s commitment to the FA community continues through his service on the Fanconi Cancer Foundation’s Board of Directors and Scientific Advisory Board, and through his focus on one of the greatest challenges ahead: understanding and preventing FA-related cancers. His leadership and collaboration across disciplines are helping to bridge the fields of immunotherapy, gene editing, and cancer biology, advances that will shape the next generation of care for people with FA.

As Dr. Wagner reminded the community, progress requires courage. The work is not finished. To answer the next unanswered questions, researchers and advocates must continue to take bold risks, ask hard questions, and invest in ideas that have the power to transform what’s possible once again.

Through decades of scientific innovation and personal dedication, Dr. Wagner has helped transform the outlook for individuals with Fanconi anemia, from a disease once defined by childhood loss to one where longer, fuller lives are possible. The Fanconi Cancer Foundation is honored to celebrate his extraordinary contributions and his enduring partnership with the FA community.

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Nearly 300 members of the global Fanconi anemia community gathered in Minneapolis for the 2025 Scientific Symposium and Retreat for Adults with FA, three days that blended science, lived experience, and hope.

Attendees joined from 18 countries across six continents, representing Argentina, Australia, Canada, Denmark, the Dominican Republic, Germany, Kenya, Mexico, the Netherlands, Pakistan, South Africa, the United Kingdom, the United States, France, Spain, Egypt, Israel, Brazil, Poland, and Portugal.

Community Voices Lead the Way

The meetings opened with a joint town hall that united adults with FA, caregivers, clinicians, and researchers. In heartfelt discussions, individuals with FA shared the realities of daily life with the condition, reminding all in attendance that every scientific advancement begins with real, human experiences.

At the Retreat for Adults with FA, sessions focused on quality of life and access to care. A standout mental health discussion emphasized the need for accessible, FA-informed support and highlighted emerging efforts to connect community members with specialized providers.

Cancer prevention was another central theme. Researchers from the NIH, Germany’s Cancer Awareness Team, and The Rockefeller University shared updates on cancer screening initiatives, while Dr. Agata Smogorzewska previewed the upcoming cancer prevention study. Many attendees participated in on-site oral screenings, underscoring the event’s practical and preventive focus.

“Science doesn’t move forward without community, and community is stronger because of the science.” – attendee 

Members of the FCF Patient Advocacy Program also made history this year, presenting posters for the first time that explored advocacy’s impact on health and daily life. Advocates led panels and spoke alongside researchers, strengthening the bridge between lived experience and scientific discovery.

And of course, no global gathering is complete without a little celebration. The after-party hosted by the German Team was a hit! It was complete with traditional foods and drinks, a lively photo backdrop (featuring some legendary poses), spontaneous singing, and plenty of dancing. 

Shaping the Future of FA Research

At the Scientific Symposium, collaboration took center stage. And behind the scenes, the Scientific Advisory Board (SAB) met to refine FCF’s scientific strategy, focusing on the FA Cancer Consortium and Gene Editing Initiative.

The first in-person FRIENDS Executive Committee meeting marked another milestone. The group’s discussions advanced data harmonization and helped identify top priorities for the FA Research Data Commons, ensuring a unified, global approach to FA research.

International Summit

This year’s International Summit brought together researchers, clinicians, and patient support group leaders from across Europe, Africa, North and South America, and beyond. The exchange of ideas across borders continues to be one of the greatest strengths of this community, and it was inspiring to see collaborations forming in real time.

Discussions spanned topics from cancer prevention to emerging genetic therapies, reflecting a shared commitment to ensuring that progress in FA research benefits individuals and families everywhere. The energy and openness of the Summit embodied what makes the FA community truly global.

Dive Deeper into the Science

Two keynote speakers showcased groundbreaking research shaping the future of cancer and FA biology.

Dr. Siyuan (Steven) Wang, PhD presented “Chromatin Tracing and the Evolution of Single-Cell 3D Genomes in Kras-Driven Cancer.” His work revealed stage-specific changes in 3D genome organization as cancer progresses, offering new pathways to potential diagnostic biomarkers.

Dr. Mike Spencer Chapman, PhD shared insights on “Clonal Dynamics of Stem Cell Transplantation.” His study uses somatic mutations as clonal markers to track donor and recipient cell behavior over time—findings that may guide improved transplant strategies.

Poster Award Highlights

• Best Basic Poster – Cecilia Ayala-Zambrano: Loss of FANCA modifies the 3D organization of the genome in squamous carcinoma cells. FANCA deficiency was shown to alter genome architecture, increasing translocations and new gene fusions.
• Best Translational Poster – Colette Rogers: In vivo correction of a genetically humanized FA murine model using digital editing technologies. Demonstrated proof-of-concept for in vivo gene editing in bone marrow stem cells for FA.
• Best Clinical Poster – Luitpold Distel: Radiosensitivity in patients with breast cancer risk genes in comparison to Fanconi anemia. Found that radiation sensitivity among individuals with certain breast cancer risk genes was modestly higher than average but variable.

Recognizing Excellence and Commitment

The meetings also honored outstanding contributions across the FA community:

• Lifetime Achievement Award: Dr. John Wagner—Professor of Pediatrics and Founding Director of the Institute for Cell, Gene and Immunotherapies at the University of Minnesota—for his pioneering leadership in FA research and cell therapy.
• Winn/Byrd Award for Adults with FA: Fatma Isaak, with Louise Dalgleish as first runner-up.
• Award of Appreciation: Kidz1stFund, recognized for its extraordinary commitment to FA research. Every dollar raised supports research at the University of Minnesota, totaling more than $13.6 million, while 7,700 individuals have joined the national marrow registry through its drives.
• David B. Frohnmayer Early Investigator Award: Dr. Lisa McReynolds for her promising work advancing FA science.

Looking Ahead

The 2025 meetings captured what defines the Fanconi Cancer Foundation community: collaboration, compassion, and shared purpose.

From deeply personal discussions about mental health to forward-looking conversations on data sharing and gene editing, the Symposium and Retreat demonstrate how community and science move forward together.

We look forward to seeing you in Phoenix, Arizona, October 1-3, 2026!

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EUGENE, OREGON – In 2015, Phil and Penny Knight made a bold ten-year pledge of $10 million to the Fanconi Cancer Foundation (FCF) to address the extraordinarily high risk of life-threatening cancer in people with Fanconi anemia (FA), a rare genetic disorder that often leads to highly aggressive malignancies at a young age. Their investment in research focused on FA cancer has provided new knowledge on understanding of DNA-repair biology and its effects on cancer. Research supported by the Knights has shaped best practices in prevention, early-detection, and treatment strategies for cancer, benefiting people with FA and providing far-reaching benefits for the broader population.

Katherine De Los Santos’ lived experience shows the impact Phil and Penny Knight have made. A few years ago, persistent chest pain led her to enroll in the FCF-funded cancer screening trial at the National Institutes of Health, supported by the Knights’ gift. Her esophageal cancer was found early, allowing for swift treatment and recovery. Today, Katherine is cancer-free, continuing her studies toward her dream of becoming a pediatric hematologist-oncologist, and is living proof that early detection saves lives.

“If not for this research,” Katherine shares, “not only would I not be here today, but I wouldn’t have a second chance to pursue my dreams and enjoy the small pleasures of life. Since being in remission this year, I have graduated Mercer University with my master’s degree and gotten engaged to the love of my life thanks to this research!” 

A Decade of Breakthroughs

Over the last ten years, the Knights’ support has enabled research that would never have happened without private philanthropy. Their gift has been instrumental in:

• Advancing early cancer detection: Funding worldwide efforts focused on using brush biopsies, a noninvasive screening tool now showing promise for cancer detection in the broader population.
• Driving innovation in cancer prevention trials: Laying the groundwork for therapies that can prevent cancer, leading to an upcoming clinical trial. 
• Pursuing targeted cancer treatments: Supporting the first head and neck cancer clinical trial for advanced oral cancer in FA, aiming for more effective and less toxic treatment options.
• Advancing gene editing approaches: Supporting research into innovative techniques like base and prime editing to fix the mutations in DNA that cause FA. By correcting these mutations in FA cells, scientists are developing a precise, less risky alternative to bone marrow transplantation and cancer therapy. The ultimate cure for FA will entail gene therapy, which has the potential to fix the underlying genetic cause of this disease. 
• Expanding understanding of the BRCA (breast cancer)–DNA repair pathway: Illuminating mechanisms that cause tumor formation and informing new strategies to prevent and treat cancers affected by faulty DNA repair in all people.

Inspired by Friendship and Shared Vision

The Knights have been loyal supporters of the Fanconi Cancer Foundation for decades. In 2015 they became champions for the FA community with their commitment of a $10 million pledge focused on addressing the urgent cancer risk in FA. By then, two of Lynn and David Frohnmayer’s three daughters had passed away from complications of the disease, and David himself died in 2015 from cancer. Their third daughter, Amy, died of leukemia the following year. 

“The deep sadness of losing three remarkable daughters to FA and the loss of my terrific husband to cancer is with me daily,” shares Lynn Frohnmayer, FCF Co-Founder. “It is mitigated only by the knowledge and belief that the generosity of others, and most especially the transformative gifts of the Knights, is preventing early deaths, greatly extending life expectancy, and has given hope to FA families around the world. Words cannot express the enormity of my gratitude.”

Impact Beyond FA

Although FA is a rare disease, the genes involved are part of a critical DNA repair pathway present in everyone, meaning the Knights’ investment in FA research has had a truly global impact. Our understanding of FA and FA cancer is advancing the broader field of cancer biology, influencing studies on breast, ovarian, and head and neck cancers, and informing prevention strategies that could help countless people.

“When our organization was founded in 1989, physicians considered this a pediatric disease, killing almost every patient in the first or second decade of life, writes Fanconi Cancer Foundation CEO Isis Sroka, PhD. “Today, most patients live into their late 20s, 30s 40s and even later. The game-changing gifts from the Knights are largely responsible for this remarkable expansion in life expectancy. Knowledge about the causes, prevention and non-toxic treatment of cancer developed because of their generosity has applicability for the population in general.”

John E. Wagner, MD, professor of pediatrics and co-leader of the Transplant and Cellular Therapy Program at the Masonic Cancer Center, University of Minnesota, underscores the impact of this research on patients: “Thanks to sustained FA research, survival after blood and marrow transplant now exceeds 90 percent, gene therapy is restoring marrow function in children, and earlier detection and new immunotherapies are changing what’s possible for people with FA. The Knights’ support helped turn discoveries in DNA repair and stem cell biology into today’s life-saving care.”

The Power of Philanthropy in Scientific Research

In today’s climate, with national research budgets under pressure, private donors like Phil and Penny Knight are vital. Their decade-long commitment is transformational, bringing hope to families and changing the trajectory of cancer research.

The discoveries made possible by the Knights’ gift will continue to shape the future of FA and cancer research for years to come. Their legacy shows how vision and generosity can spark remarkable progress, and reminds us that transformative change often starts with a single bold act. 

Learn more: The FA and Cancer Story

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About Fanconi Cancer Foundation
The Fanconi Cancer Foundation (FCF) is the leading organization worldwide dedicated to advancing research, advocacy, and support for people affected by Fanconi anemia (FA) and associated cancers. FA is a rare inherited disease characterized by bone marrow failure, leukemia, and a very high risk of cancer. FA stems from mutations in one of 23 genes, including notable breast cancer susceptibility genes BRCA1 and BRCA2. 

Founded in 1989 by parents Lynn and David Frohnmayer, FCF’s contributions have been instrumental in improving treatments such as hematopoietic cell transplant, significantly enhancing success rates and improving patient outcomes and life expectancy. Studying FA and its connection to cancer not only provides crucial insights into the disease itself but also contributes to a deeper understanding of the complex interplay between DNA repair mechanisms and cancer development. This research has the potential to inform the development of novel diagnostics, preventive strategies, and therapies for various types of cancer. By fostering collaboration and innovation, FCF continues to lead the charge toward effective treatments and ultimately a cure for Fanconi anemia and associated cancers.

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We’re thrilled to announce a new partnership between the Fanconi Cancer Foundation (FCF) and the American Cancer Society (ACS): the Fanconi Cancer Foundation Discovery Boost Grant. This grant program will fuel innovative research aimed at preventing, detecting, and treating cancers associated with Fanconi anemia (FA).

This collaboration underscores our shared commitment to advancing translational research that leads to real-world impact for people living with FA and related cancers. For researchers, it offers a unique opportunity to explore bold ideas in the FA/BRCA DNA repair pathway, and for our supporters, it represents a powerful way your generosity is driving progress in cancer research.

Scientific Scope

The Discovery Boost Grant supports translational research directly applicable to FA-associated cancers—particularly those influenced by defects in the FA/BRCA DNA repair pathway. Proposals should clearly state how the work will advance FA cancer research and benefit individuals with FA.

Applications are welcome from FA experts as well as researchers in related cancer biology fields who propose pivoting toward FA-relevant studies. Investigators new to the FA research field should demonstrate strong relevance and impact toward the areas of interest below.

Areas of interest include, but are not limited to:

• Early detection technologies and biomarkers for FA-related squamous cell carcinomas
• Mechanisms or interventions to prevent FA-related tumors
• Therapeutic strategies tailored to the FA population’s sensitivity to DNA-damaging agents
• Novel models to study FA tumorigenesis and treatment response
• High-throughput or systems biology approaches to identify FA-specific cancer vulnerabilities

Preference will be given to proposals with a clear translational path for detecting, preventing, or treating cancer in people with FA, including collaborations with clinicians, diagnostic developers, or pharmaceutical partners.

Eligibility

Applicants must work at a U.S. academic institution or eligible nonprofit and be independent investigators at any career stage with a full-time faculty appointment (or equivalent). Applicants are encouraged to review the full eligibility criteria in the grant policies on the ACS website.

Term and Budget

Awards are for up to $135,000 in direct costs per year for up to two years, plus 10 percent indirect costs. The maximum allowable budget is $297,000 for a two-year project period.

The deadline to apply is December 1, 2025.

Why This Matters

This grant program reflects FCF’s focus on catalyzing new ideas, attracting talented investigators to the FA field, and forging strategic partnerships to accelerate progress. By working with ACS, we’re expanding our reach and resources to advance research with the greatest potential to improve the lives of people with FA and associated cancers.

Learn More and Apply

Applications for the Fanconi Cancer Foundation Discovery Boost Grant are now open. Learn more about the grant and access application instructions on the American Cancer Society’s website.

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We know that caring for the whole person includes supporting emotional health. Recent research shows that many adults with FA and caregivers experience high rates of anxiety, depression, and post-traumatic stress. These challenges affect well-being and long-term health, as well as participation in research. We also know that there are many barriers to accessing quality mental health, let alone providers that understand FA. We’re committed to addressing this need by making mental health support more accessible for our community.

Quick Link: Access Support Here

Our Partnership With Give An Hour
To advance this commitment, FCF has partnered with Give An Hour (GAH), a national nonprofit dedicated to expanding access to no-cost mental health care and education. 

What This Means for You

• Access to care: Adults with FA and caregivers can connect to trained mental health providers through self-referral, referral from FCF, or referral from peer support volunteers.
• Peer support: GAH is training FCF volunteers in trauma-informed peer support, designed specifically to the rare disease community.
• Resources and education: We’re working with GAH and FCF advocates to  develop an FA-tailored mental health toolkit and educational materials.
• Rare-competent providers: GAH plans to train mental health professionals nationwide to better understand and support individuals and families affected by rare conditions.

See a message below from Julie Wells from Give An Hour:

Our Vision
This partnership is part of FCF’s broader commitment to improving quality of life for every person with FA and their caregivers. By addressing emotional well-being alongside medical care, we’re helping to build resilience, strengthen families, and ensure that no one faces FA alone.

Access Support by Clicking Here

Interested in becoming a trained FCF peer support volunteer? Contact communitysupport@fanconi.org. 

The post Expanding Mental Health Support for the FA Community appeared first on Fanconi Cancer Foundation.

Read the complete publications from this study:

FA Mental Health & Wellbeing Considerations: A Lay Summary

Mental health in the first generation of adults with Fanconi anemia 

‘‘I would love to talk to someone that actually understands’’: Psychosocial experiences of adults with Fanconi anemia

Overview of Psychosocial Experiences in Adults with Fanconi Anemia

The Psychosocial Experiences of Adults with Fanconi Anemia: A Participatory Mixed-Methods Research Study offers valuable insights into the mental health of adults with FA. The study, led by Drs. Megan Voss and Kathleen Bogart with an advisory council of FA adults, was funded by FCF in 2022. The study highlights that adults with FA report significantly poorer health-related quality of life compared to the general population. This includes higher rates of anxiety, depression, fatigue, sleep disturbance, and pain, as well as challenges related to cognitive function, physical function, and social participation.

One of the study’s key findings is that half of the participants screened positive for symptoms of post-traumatic stress disorder, with 33% screening positive for anxiety and 25% for depression. Additionally, 44% reported a known mental health disorder at some point in their lives, and half of those were currently experiencing active symptoms. Finally, 15% believed they were experiencing symptoms of a mental health disorder but had not been diagnosed with one. These findings highlight the high prevalence of mental health concerns within our community and the critical need for increased mental health support and screening by licensed professionals.

Understanding the Experiences of Family Caregivers

While this study focused on adults with FA, it is essential to acknowledge the experiences of family caregivers as well. Research on cancer caregivers shows that their mental health is closely linked to the health of the person they care for. When their loved ones receive mental health care, caregivers are three times more likely to access mental health support themselves (Litzelman, et al., 2021). Caregiving is an immense responsibility.

The burden of caregiving can lead to significant mental health challenges, with caregivers reporting higher rates of anxiety and depression than non-caregivers (Cleveland Clinic, 2022). Although we lack specific data on FA caregivers, we can infer from our community that they face similar challenges and need mental health support just as much as those they care for. Additional research focused specifically on caregivers is needed.

Summary of Evidence-Based Interventions to Support Mental Health & Well-Being

While there is much more to learn about the mental health challenges faced by the FA community, there are strategies that can be helpful. By addressing psychosocial factors, managing physical symptoms, and utilizing mental health interventions, the hope is to reduce the risk of individuals with FA developing mental health diagnoses.

Taking a whole-person approach to caring for individuals with FA and their caregivers is the most effective way to both modify risk and enhance overall well-being. This approach is best understood in the context of a broad definition of well-being, such as the one depicted in the model from the University of Minnesota. Well-being includes being happy and healthy in the broadest sense—not just physically, but also mentally, emotionally, and spiritually. It is possible for a person to experience significant physical health challenges yet still maintain high levels of well-being. Well-being is a state of being in balance or alignment, encompassing feelings of contentment, peace, purpose, harmony, and safety (University of Minnesota, 2024).

This model of well-being identifies six domains that impact mental health: health, purpose, relationships, community, security, and environment. The strategies recommended in this study can help enhance well-being by focusing on these domains.

At FCF, we are committed to prioritizing mental health as we continue to foster a supportive and resilient community.

We encourage you to explore the published studies at the top of this page, where you can find detailed evidence-based recommendations and insights to support mental health and well-being within the FA community. The report breaks down strategies into three practical levels, including those that can be done at the individual level, with the support of the local community, and with the support of one’s healthcare team. Individuals with FA and their family caregivers can advocate for themselves by providing their local providers with this information.

Furthermore, five key themes emerged from the research, which provide deeper insights into the mental health experiences of adults with FA:

1. Living with FA is a full-time job: Managing FA is a constant, all-encompassing task that requires ongoing attention and effort.
2. Struggling to find and access mental health care: Many adults with FA experience difficulties in finding mental health professionals who understand their unique needs, let alone their chronic illness.
3. Facing stigma and isolation: Stigma and trauma take a toll on mental health. Discrimination, body image issues, gender norm violations, isolation, and healthcare trauma can lead to mental health symptoms.
4. Grief, loss, and community connections: Connecting with the FA community has many benefits, but it can also involve grief when friends encounter serious medical problems.
5. Finding ways to cope and stay optimistic: Despite the challenges, many individuals with FA use various strategies to cope, such as staying occupied, cultivating optimism, and embracing their uniqueness.

These findings emphasize the need for tailored mental health care and the importance of trauma-informed support. Because individuals with FA often live far from FA Centers of Excellence, these findings also underscore the need for collaboration with local primary care providers, oncology teams, and mental health professionals.

The post Mental Health and Wellbeing for Individuals with FA and Caregivers: Key Insights and Recommendations from Research appeared first on Fanconi Cancer Foundation.

Many of you have reached out with questions about recent legislative changes to US healthcare, including updates to Medicaid under HR1. We know that these changes can feel complex and uncertain, especially when you or your loved one relies on consistent, specialized care. While much is still being decided, we want you to know that we are paying attention, learning from experts, and committed to sharing information that can help you make informed decisions.

What We Know

• Coverage Loss: Some changes to eligibility and administrative rules may lead to fewer people qualifying for Medicaid, which could impact those who rely on Home and Community-Based Services (HCBS) or other waiver programs. 
• Cost Shifting: Reduced coverage may shift costs to families, providers, and hospitals.
• Equity Concerns: New work requirements and more frequent eligibility checks could disproportionately affect people already facing barriers to healthcare access.

Because implementation will happen at both the federal and state levels, the effects may vary depending on where you live.

Why This Matters

People with rare diseases like FA often rely on a combination of healthcare programs and insurance coverage. Any change that reduces access to care or increases out-of-pocket costs can have real-world consequences for our community.

How You Can Engage

Changes are scheduled to go into effect in 2026, so the best time to act is now. As the situation evolves, here are some ways to get involved:

1. Stay Informed
   Learn about your state’s Medicaid program and how it serves people with rare diseases. Search “[Your State] Medicaid” to find the government site — it usually ends in .gov. Follow organizations tracking Medicaid policy, such as the National Organization for Rare Disorders or your state’s rare disease advisory council. See a list of helpful organizations at the end of this page.
   
2. Share Your Story
   Personal stories help policymakers understand the real impact of healthcare changes. Consider submitting your experience to your state’s Medicaid Advisory Council or to national rare disease advocacy groups.
   
3. Participate in Public Comment Periods
   When states propose changes to Medicaid programs, there is often a public comment process. This is a chance to share your concerns or support.
   
4. Build Relationships with Decision-Makers
   If you feel comfortable, connect with your state legislators and Medicaid officials to share how these programs impact your life.
   
   
5. Join Advocacy Networks
   Partner with organizations already working in Medicaid policy to amplify your voice. 
   
   Explore FCF’s Patient Advocacy Program and apply to take a more active role in our advocacy efforts.

Moving Forward Together

We will continue monitoring updates from trusted organizations and sharing key information with the FA community. While we are not healthcare policy specialists, we know that informed, early engagement can make a difference. If you hear of upcoming public comment opportunities, legislative proposals, or data that could help advocate for our community, please share it with us so we can help spread the word.

Resources

• Find your Representative: Congressional District maps and social media links/handles for legislators.
• How your state is taking action: State Organizations, State Rare Disease Caucuses, and Rare Disease Advisory Councils
• Advocacy How-to Guides: Quick-reference advocacy tools designed to help effectively engage in policy at federal, state, and local levels.
• Waiver Programs: State‑by‑state breakdown of Medicaid waiver and Katie Beckett programs for children with disabilities.

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That’s why Rocket Pharmaceuticals, Inc. (Rocket Pharma) partnered with FCF, IQVIA, patient and caregiver advocates, and psychosocial researchers to conduct this qualitative study. Together, they spoke with 25 families, including children and teens (ages 8–17), adults with FA (18 and older), and parents caring for children of all ages. 

These in-depth interviews offer a closer look at how FA affects daily life—not just physically, but emotionally, socially, and financially. The stories families shared highlight what support looks like now, what’s missing, and what matters most as individuals with FA grow and navigate new stages of life.

WHAT WE HEARD FROM CAREGIVERS AND INDIVIDUALS WITH FA

Families described a wide range of challenges, some of which were deeply difficult. Families also described positive impacts related to navigating FA, such as strengthened family and community connections and shifts in their personal values. Several key themes emerged:

1. Daily Symptoms and Constant Uncertainty

From fatigue and pain to skin and limb differences, many shared how FA symptoms interfered with their quality of life. Some also described the ongoing worry that even when things seemed stable, something worse might be coming. The uncertainty that comes with increased cancer risk was a theme shared by people with FA and their caregivers alike.

“I was born without a thumb… when I was [about 1 year old], they moved [my index finger] to function as a thumb… it’s a lot weaker than my other hand. Like it’s hard for me to lift things… it’s kinda difficult to manipulate things… I was right-handed, but after the surgery I kind of ended up becoming a left-handed person.”
—Adult with FA

“I feel like every day I’m monitoring how I feel. I examine my mouth, look for any lesions or anything abnormal on my skin. It’s a constant thought of oh, I feel slightly under the weather. I wonder if I’m getting sick… I wonder if [the transplant] failed. I wonder if I got GvHD and then it ends up in a spiral… And then being married now, I have somebody else to worry about. I’m terrified that I’m gonna die before her. I’m terrified that if we have kids that I’m gonna leave them without a father.”
—Adult with FA

“I’ve already got it in my mind that we’re gonna get some other cancer, ‘cause I don’t see how we make it through without, just ‘cause, you know, in the small statistics that they have about it, I mean—bone marrow transplant is usually just the beginning. Whether it’s a tumor that needs to be removed or, you know, leukemia or whatever it is, it just—impending doom, is the feeling.”
—Parental caregiver of a child with FA

2. Emotional and Social Isolation

Families frequently described feeling isolated, especially around bone marrow transplantation. Notably, they experienced profound impacts on their emotional well-being such as feelings of anxiety, anger, sadness, grief, frustration, and feeling different from others unaffected by FA. Even when medical issues improved, emotional strain often remained for both the individual and their caregivers.

“There’s a lot of almost like anger at not being able to be normal… mortality is a little bit different than what everybody else’s and just kind of wrapping your head around that. I see a therapist to be able to kind of help with the anxiety.” 
—Adult with FA

“I’ve gotten a lot of people looking at me saying, ‘Well, he doesn’t look sick, um, so there’s nothing wrong.’ Other family who have walked away from us have said, ‘Well, he had his transplant, so he’s cured and everything’s okay now.’ And they all look at you weird when you say, ‘No, that’s not the way it is—that’s not life’… It comes from the inside and just because you can’t physically see it on some of ‘em doesn’t mean their life is all healed and better. They’re fighting something deeper on the inside too.” 
—Parental caregiver of an adult with FA

“It affects relationships. Most people want kids, and if I go say, “I can’t have kids,” then my relationship with that person’s usually pretty done.”
—Adult with FA

3. Logistical and Financial Burdens

Receiving FA care often required families to make difficult decisions like relocating or leaving their jobs. These choices came at a cost to employment, finances, and family routines.

“The closest hospital was 5.5 hours away. I had 5 other kids… I was told that [my child] may not make it through transplant, and I knew he needed his brothers and sisters with us, so I made the decision to move us all down to [a different city] during transplant to be with [my child]. We lived down there for about 6 months. So, it was very stressful. I couldn’t work.”
—Parental caregiver of an adult with FA

4. The Power of Community Support

In the midst of challenges, many caregivers pointed to the value of community—especially through FCF and the FA Family and Adult Retreats. These programs helped families find expert answers, meaningful connections, and moments of hope.

“We could go to camp with all the other FA parents and kids. And you really get a feeling of community… When you’re in this situation, it’s a situation [you] didn’t choose. You can’t control [it]. You don’t know enough. And this camp would have doctors from all over different [specialties]… they’d teach you stuff. And then the kids could go out and be with the kids that are like them. And so, that would be, like, the most important, positive experience for me.”
—Parental caregiver of an adult with FA

WHY THIS MATTERS

This study shows something everyone in the FA community knows to be true: that FA affects far more than the body. It impacts relationships, finances, emotions, and long-term quality of life. It also reinforces the need for additional support services at every age and stage for patients and their caregivers, not just before or during a transplant.

Importantly, the voices in this study highlight the central role of parental caregivers and point to a gap in understanding the unique needs of partners and spouses of adults with FA.

WHAT’S NEXT

This study is already helping to inform conversations across the FA community, and we’re committed to continuing that momentum.

We recognize the need to develop additional targeted psychosocial support for children and adults living with FA and their family caregivers. Learning more about the specific quality of life and mental health challenges these individuals, caregivers, and families face is the first step in developing meaningful interventions to mitigate the risk of reduced quality of life and to enhance overall wellbeing. This study has added to the growing body of research that will support the development of additional psychosocial support for the community. 

The findings will be shared more widely with researchers, clinicians, and advocates during the psychosocial research session at the upcoming FA Symposium. 

We would like to extend gratitude to the FA advocates whose lived experiences and expertise guided the development of this study. We also thank every individual, caregiver, and family who shared their experiences. Your voices will continue to shape future research, services, and collaborations across the FA community and beyond.

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We’re thrilled to share that Rena and Paul Rice, parents of two children with Fanconi anemia—Sydney (19) and Blake (25)—have made an extraordinary commitment to the FA community: a gift of $100,000 per year for the next three years to support the FA Family Retreat.

This generous contribution ensures that the retreat, a cherished time of connection, learning, and joy, will continue to bring families together in a space where they feel seen, supported, and understood. For many, it’s the first time meeting another family living with FA. For others, it’s an annual reunion that strengthens bonds and builds lifelong friendships.

The Rice Family’s gift reflects their deep dedication to the FA community and their desire to create lasting impact for families like theirs. We are profoundly grateful for their trust, their partnership, and their belief in the power of coming together.

“We are thankful for all those people who have come before us and helped make the lives of these children better. We are just as committed to creating lasting memories for families through fun camp experiences.”
—Rena and Paul Rice

Because of them, the FA Family Retreat will continue to be a place of hope, healing, and belonging. Thank you!

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