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.

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The Fanconi Cancer Foundation (FCF) is excited to announce that Dr. Isis Sroka has been named CEO effective August 1, 2024. She succeeds Mark Quinlan who served as Executive Director since 2017 and recently announced his departure. Quinlan will continue in an advisory role with FCF through a transition period.

The Fanconi Cancer Foundation is the leading nonprofit organization with a mission to improve the lives of people affected by Fanconi anemia and associated cancers worldwide. FCF has funded ~$33 million in research, education and family support projects globally, and these efforts have directly led to identification of genes that cause FA, established the connection between FA and cancer, as well as identified treatments that to date have at least doubled life expectancy.

Dr. Sroka joined the organization in 2018 as Director of Scientific Operations and has served as Chief Scientific Officer since 2023. She developed many of FCF’s strategic relationships, greatly expanding the national and international network of key partners researching FA as part of the Fanconi Cancer Consortium, building infrastructure with the National Institutes of Health, and facilitating partnerships to develop the first global FA data commons and new FA research initiatives with the American Association of Cancer Research and Stand Up To Cancer.  She has also spearheaded strategic initiatives such as the FA advocacy program and the FCF patient registry, to empower individuals with FA to share their experiences and collaborate with the research community to advance high-impact research. Dr. Sroka has elevated the visibility of FCF and increased understanding of FCF research and its potential to unlock and accelerate treatment for cancers in the FA and general population. 

“I want to thank the Board of FCF for the opportunity. I’m humbled and energized to lead this exciting next chapter for the organization. Advancing a cure for Fanconi anemia and related cancers is truly my passion and calling,” said Sroka. “Innovative collaboration with our partners makes the future bright.”

“I am leaving FCF proud of the firm foundation established over the past seven years, knowing an extremely capable and dedicated group of individuals are in place to grow on that base,” said Quinlan. “The decision to move into the next chapter of my career did not come easily, as I am extremely proud of all that the FCF staff have accomplished during the past seven years, and I am deeply grateful for the wonderful relationships I’ve made within the FA community worldwide. Isis’ ability to drive forward strategic scientific relationships will serve FCF well.”

“The FCF strategic plan catalyzed a new chapter for the organization. Isis’ strategic insight and proven ability to create relationships that form the foundation for the exponential expansion of Fanconi cancer research position us well for that transformation and for greater impact in the lives of people living with FA and associated cancers,” said Lisa Mingo, FCF Board President. “Under Mark’s direction, FCF expanded its international community network, created the FA Adult Council, and established a stable foundation for future growth, including professionalizing the organizational infrastructure and stewarding donors and fundraisers. We are grateful for his service and appreciate his guidance through this leadership transition period.”

“Our vision is a future free from FA Cancer. The urgency of this mission has never been greater, and the role of FCF has never been more vital. Our relentless focus will be on fostering research innovation and strengthening infrastructure to ensure substantial clinical advancements,” says Sroka. “Our primary goal is to accelerate discovery and impact for all people living with FA.”  

About the Fanconi Cancer Foundation (FCF)

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 an increased risk of cancer. FA stems from mutations in one of 23 genes, including notable breast cancer susceptibility genes BRCA1 and BRCA2. Symptoms vary widely and may include birth defects, abnormal blood cell counts, and heightened cancer susceptibility. 

Founded in 1989 by parents Lynn and David Frohnmayer, FCF’s contributions have been instrumental in improving treatments such as hematopoietic cell transplant (HCT), significantly enhancing success rates and improving patient outcomes and life expectancy. Through its multifaceted approach, FCF has propelled significant advancements in understanding FA, with over $33 million funded for 260+ research projects worldwide. In recent years, FCF’s research activities include partnering with Stand Up To Cancer and the American Association for Cancer Research, leading the international effort to standardize all patient data, and the formation of two international consortia: one focused on gene therapy and gene editing, and another focused on cancer prevention, detection and awareness. Its efforts extend beyond research, encompassing advocacy, community support, educational resources, and clinical programs like the Virtual Tumor Board and the FA Patient Registry. 

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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On May 24th, 2024, the FA Europe Network hosted its inaugural pan-European scientific meeting at the historic Saint-Louis Hospital in Paris, marking a significant milestone in international collaboration for Fanconi anemia (FA). This event was the culmination of years of dedicated effort by FA Europe, a network spearheaded by Fanconi Hope and the Dutch FA Support Group in 2019 and supported by an international grant from the Fanconi Cancer Foundation.

The meeting’s location, Saint-Louis Hospital, holds great significance as the site of the world’s first successful human umbilical cord blood transplant in 1988, on an individual with FA who is still involved with our community today! The event’s keynote speaker, Professor Eliane Gluckman, who performed that pioneering transplant, highlighted the remarkable progress in FA treatment and research since then. Additionally, Dr. Isis Sroka, the Chief Scientific Officer at FCF, shared insights to ensure alignment and synergy between US and European FA research efforts.

A particularly inspiring moment was provided by Dr. Farid Boulad, who recently retired to France after a distinguished career in the US. Drawing a parallel to the film “Field of Dreams,” Dr. Boulad said, “If you build it, they will come,” symbolizing the successful formation of the FA Europe Network, which attracted a diverse and passionate group of clinicians and scientists.

The meeting brought together 92 participants from 12 countries, including clinicians, scientists, and patient support group representatives. This gathering aimed to foster collaboration in achieving equal access to optimized care for individuals affected by FA across Europe. Notably, several attendees were new to the FA community, working in related fields, and their participation underscores the expanding interest and commitment to FA research. The presence of younger clinicians and scientists also bodes well for the future of FA research and care.

Many attendees have since expressed a clearer understanding of their potential contributions to the FA field and a renewed commitment to collaboration. Follow-up discussions are already underway, signaling the strong momentum generated by this event. Representatives from patient support groups across 14 European countries are now tasked with maintaining this momentum and continuing to drive progress. FCF will continue to be a partner in helping advance these efforts.

The FA Europe Network’s first scientific meeting represents a significant step forward in the global effort to improve the lives of those affected by FA, exemplifying the power of international collaboration and shared vision.

The event was made possible through generous donations from patient support groups and support from the French Reference Centre for Aplastic/Fanconi Anemia at Saint-Louis Hospital. Thank you!

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Name: Eunike Velleuer, MD

Institution: Department of Cytopathology, Heinrich Heine University, Düsseldorf, Germany; Centre for Child and Adolescent Health, Helios Clinic, Krefeld, Germany.

Area of expertise: Pediatric Hematology-Oncology

My work:

I’m a clinician scientist specializing in pediatric hematology-oncology. I currently serve as a senior physician at the Centre for Child and Adolescent Health, Helios Clinic, in Krefeld, Germany. I also work as a research associate at the University of Düsseldorf. My focus is on cancer predisposition in Fanconi anemia (FA). More precisely, my research is on the early detection of oral squamous cell carcinoma and identifying individuals with FA at risk of cancer.

Over the last 14 years – together with patient support groups and colleagues around the world – we conducted a study on the use of oral brush biopsies to evaluate visible spots in the mouths of individuals with FA. This study proved that brush biopsies increase the frequency of surveillance, and that early detection of lesions and pre-cancers is feasible. Furthermore, I’m interested in increasing patient resilience and empowerment. In this context, I’m interested in digital medicine, computational modeling, and transition of care.

What motivates me to work on FA:

There is nothing like death to teach us how precious life is and what a huge gift it is to live on this planet. I’m convinced that each of us has a role to play in this global community. I came to the FA field by way of an intellectual challenge in the lab, but very quickly learned about how this disease personally impacts the individual and their loved ones. My dedication to FA is grounded in the hope to lessen the pain and suffering. I keep my eyes and my heart open to this community.

When I’m not in the lab, you could find me:

Most of the time I’m outside in nature, enjoying the beauty of life and the wonders of harmony that can be found there. You’ll seldom find me in one spot, as I like to move around on foot, bicycle, or paddle board.

Anything else you want FA families to know?

In our work, we are always seeking to understand this disease better. Seeking answers is a universal human trait. Yet we know only rarely can we explain or understand every aspect of what’s happening to us. While we do not have all the answers about FA yet, I believe it’s critical to continue forward and find joy and peace in a life we cannot always understand or explain.

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Name: Alfredo Rodríguez, PhD

Institution: Biomedical Research Institute, National Autonomous University of Mexico (UNAM)/ National Institute of Pediatrics (INP), Mexico

Area of expertise: Biology of the hematopoietic stem cells, cytogenetics
I am a biologist born and raised in Mexico. I was trained by Dr. Sara Frias at INP/UNAM and by Dr. Alan D’Andrea at Dana-Farber Cancer Institute/Harvard Medical School. I have studied Fanconi anemia (FA) for the past 13 years from several perspectives. Additionally, I have performed diagnosis and used computational modeling to understand the behavior of FA cells. During my postdoctoral training I explored the potential of TGFb pathway inhibitors to improve Fanconi anemia’s bone marrow failure and used single-cell resolution technologies to study hematopoietic stem cells from patients with FA.

My work

Recently I became a principal investigator at UNAM, the leading University of Mexico. I maintain a strong interest in studying FA using additional and new technologies, including single cell DNA sequencing, single cell proteomics and single cell imaging. My research group is also using computational and mathematical modeling techniques to understand FA cells. This is important because in FA, excessive apoptosis (programmed cell death) can lead to tissue atrophy, and cells with un-repaired DNA damage can lead to cancer.

In addition, with my colleagues from Mexico and Ana Tabar, an adult with FA from the Dominican Republic, we started a series of patient-oriented talks delivered in Spanish and directed to Latin-American patients with FA to provide information about the disease, how it is treated, and what follow-up is needed.

Above: Dr. Rodriguez with Anne and Jason, two adults with Fanconi anemia

What motivates me to work on FA

Through studying FA both in Mexico and in the USA, I have met so many new people and made new friends. Some of these new friends have Fanconi anemia. Although I am still a young scientist, my academic contributions to the FA field allowed me to competitively apply for a position at the University of Mexico and start my own laboratory. Therefore, I feel in debt to patients with FA and want to give back to them focusing my energy and expertise to learn more about the threats that they face daily, and potentially contribute to finding treatments and a cure for this disease.

When I’m not in the lab, you could find me

I love visiting my hometown where my mother and most of my siblings live. I enjoy lap swimming, spending time with my friends and traveling with my partner across Mexico.

A message for FA families

Engaging with the FA community has given me a new perspective on how I understand science and how knowledge is generated. Now I feel that when we study FA, we become more empathic. We understand that FA is not just samples or cells; it’s people, it’s friends, it’s FAmily.

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In 2021, FARF focused on advancing translational and clinical approaches, while at the same time supporting basic science research projects that are foundational to the field.

In addition to our research grant award program, we now have large, collaborative research and clinical programs, including specialized focus-groups, a cancer clinical registry, a cancer early detection program, and more.

Below is a recap on the research initiatives made possible in 2021 thanks to our incredible donors, fundraisers, and dedicated researchers. You will read about grants that wrapped up in 2021 as well as newly funded projects, scientific events, and clinical programs and initiatives.

Grants Completed in 2021

CRISPR Transcriptional Screens for Re-Activation of HDR in FA Patient-Derived Cells
Jacob Corn, ETH Zurich
This aim of this grant was to identify potential ways to re-activate DNA repair by using a lab-based technique that activates and inactivates certain genes in FA patient cells. This work allowed the researchers to determine if the overexpression of specific proteins resolved the DNA repair deficiency in FANCA and FANCD2 Fanconi anemia genotypes. The researchers found that removing a single gene from FA cells was sufficient to re-activate faulty DNA repair. These results are significant because identifying genes that play a role in DNA repair in FA cells will be useful for developing future gene editing approaches.

Towards Improved Clinical Management of FA-Related Cancer via a Novel Functional Genomics Approach
Josephine Dorsman, Amsterdam UMC
The aim of this grant was to address the challenge of developing treatment modalities for FA head and neck cancer. In this study, whole exome and whole genome sequencing of FA cancer cell lines were used to identify relevant events associated with FA head and neck cancer. The results demonstrated that the amplification of chromosome 11q22.2, which is associated with the overexpression of the BIRC2-3 gene, is common in FA head and neck cancers. The research team is now working to determine whether chemotherapy approaches targeting overexpressed BIRC2-3 could be used as a clinically realistic treatment for FA head and neck cancers.

Pilot Study of Metformin for Patients with Fanconi Anemia
Akiko Shimamura, Dana Farber/Boston Children’s Cancer and Blood Disorders Center
There were two key outcomes from this clinical research study that have important implications for people with FA. First, metformin was proven safe and well-tolerated in non-diabetic patients with FA. Second, a hematologic response was observed in 4 of the 13 evaluable patients with FA treated with metformin, suggesting the drug may improve blood counts for a subset of patients with FA. The research team is currently working on publishing results from this study and once available, FARF will provide a summary.

Modeling Hematopoietic Clonal Evolution in Fanconi Anemia
Grant Rowe, Boston Children’s Hospital
The aim of this grant was to develop a new model system to study the evolutionary process of FA bone marrow failure to leukemia. Researchers plan to use this model system to understand the genetic pathways required for the development and progression of FA leukemia, and to test new therapeutic approaches.

New Grants Awarded in 2021

FARF/Stand Up to Cancer Project
In 2021, FARF developed a partnership with Stand Up to Cancer (SU2C) to facilitate collaborations and cross-pollination of ideas between the FA community and cancer experts. Stand Up to Cancer supports large integrated research teams that focus their efforts on developing treatments for cancer.

The FARF/ SU2C partnership includes three additional nonprofit organizations: the American Head and Neck Society, the Head and Neck Cancer Alliance, and the Farrah Fawcett Foundation. This collaboration formed a head and neck cancer research team with funding from each organization.

The selected research team is led by FA researcher, Dr. Agata Smorgorzewska from The Rockefeller University. Joining her are over a dozen other researchers, clinicians, and patient advocates, many of whom are familiar with FARF. This team includes other FA researchers including Dr. Barbara Burtness from Yale School of Medicine and Dr. Markus Grompe from Oregon Health and Science University, and other head and neck cancer experts.

The goals for this project include (1) providing a comprehensive understanding of the biology of FA-related tumors; (2) testing new therapeutic approaches to FA-related head and neck squamous cell carcinoma (HNSCC); (3) identifying effective chemoprevention treatments, and (4) assessing the toxicity of potential cancer therapeutics. The team theorizes that by having an improved understanding of FA cancers, they can identify tumor-specific vulnerabilities.

This project will provide a pathway for developing safer and more effective prevention and treatment strategies for HNSCC in the FA population.

Understanding Clonal Hematopoiesis in Fanconi Anemia to Improve Patient Surveillance Strategies
Grant Rowe, Boston Children’s Hospital
Individuals with FA experience accelerated clonal hematopoiesis, with onset as soon as the first few years of life. This results in a very high risk of FA patients developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This project aims to understand the consequences of mutations recurrently found in FA patient blood stem cells, with the long-term goal of informing surveillance approaches and the decision to use bone marrow transplantation.

Research events in 2021

Workshop on Fanconi-Associated Neurological Syndrome (FANS)
Fanconi Associated Neurological Syndrome (FANS) refers to a set of central nervous system abnormalities that affect some patients with FA. The causes of FANS are ill-defined, and limited treatment options exist for patients with FA who experience this condition. The FARF Sparks workshop on FANS was held in late October and provided an overview of the current clinical state of the field for FANS and an avenue for new collaborative research focused on this topic. FARF staff is working to develop a chapter on current clinical guidelines on FANS to publish in the Fanconi Anemia Clinical Care Guidelines and is facilitating development of a FANS Clinical Board to review cases.

Workshop on FA Gene Editing
The FARF Sparks workshop on FA gene editing was held in early December. Its purpose was to outline the current state of the field for FA gene editing and develop the foundation for a collaborative Gene Editing Dream Team that will apply for grant funding from FARF. During the meeting, researchers from across the world presented on topics such as base editing strategies, correcting FA mutations using digital genome engineering, safety studies, and in vivo gene editing. Development of the Dream Team proposal is being led by Paula Río, PhD, a member of FARF’s Scientific Advisory Board.

Joel Walker Cancer Ideas Lab
The Joel Walker Cancer Ideas Lab was held over a five-day period in early November. During this event, 31 scientists brainstormed ideas on how to shift the paradigm for treating FA cancers, formed interdisciplinary research teams to create grant proposals, and pitched their ideas to a funding panel for the opportunity to win a $500,000 grant award. The winning team consists of doctors Ken Weinberg, Daria Mochly-Rosen, Hiro Nakagawa, Frank Ondrey, and Craig Elmets. This team will develop pre-clinical models to better understand squamous cell carcinoma in individuals with FA. This grant will start in 2022.

Scientific Symposium
In 2021, our virtual research symposium hosted an engaged group of over 500 FA scientists, clinicians, patients, and families from around the world over a four-week period in July. Topics covered during the meeting included gene therapy and gene editing, bone marrow failure, DNA repair, and cancer. The meeting was co-chaired by Juan Bueren and Paula Río from CIEMAT, Sharon Cantor from the University of Massachusetts Medical School, Peter Kurre from the Children’s Hospital of Philadelphia Research Institute, Agata Smogorzewska from the Rockefeller University, and Susanne Wells and Parinda Mehta from Cincinnati Children’s Hospital Medical Center. The FARF Symposium is a necessary catalyst for maintaining momentum in FA research; it provides researchers and clinicians the opportunity to share progress on their work, generate new ideas, and form new collaborative research projects.

​Research Programs and Initiatives in 2021

Global Fanconi Anemia Brush Biopsy Program
The Global Fanconi Anemia Brush Biopsy (FABB) program is a grant funded by FARF to help detect and prevent oral cancer. Investigators in this study proved that oral brush biopsies are an effective and safe way to screen people with FA for head and neck cancer. Researchers have shown that people with FA who have a negative brush biopsy test result could be spared painful diagnostic incisional biopsies. Most impressively, the technique also detects a substantial number of early precursor lesions at a non-invasive stage, when surgical removal is highly successful in eliminating cancer. FARF funded the brush biopsy study again in 2020 for an additional three years to expand the service in the United States and to other countries and to provide training for other physicians and laboratories that will analyze the brush biopsy samples. The group has produced a number of educational materials to this end and is currently developing an app to help patients perform self-examinations of their mouths.

Fanconi Anemia Cancer Consortium
Founded in 2021, the Fanconi Anemia Cancer Consortium (FACC) consists of researchers from four research institutions: the University of British Columbia, the University of Düsseldorf, the National Institutes of Health (NIH), and the Rockefeller University. The goal of the consortium is to create collaborative and integrated projects that will focus on improving patient care for early detection, screening, and treatment for FA cancers. Institutions in the consortium will be submitting grant proposals to FARF in 2022 to receive support for their respective projects.

Fanconi Anemia Research Materials
The Fanconi Anemia Research Materials (FARM) repository is a collaboration between FARF and Oregon Health and Science University (OHSU) that stores FA antibodies, human and mouse FA fibroblasts, and cancer cells lines in a centralized repository on the OHSU campus. Scientists can request materials from the FARM for their research projects by completing forms on the OHSU website.

FA Patient Registry focused on FA Cancers
In 2019, FARF and the National Organization for Rare Diseases (NORD) launched a patient registry specifically on Fanconi anemia. The registry consists of patient-directed surveys that collect information about the disease progression and experiences of individuals living with FA. This free and voluntary service helps researchers direct studies that lead to better treatments for FA.

Virtual Tumor Board
The FARF Virtual Tumor Board (VTB) is a panel of physicians from various oncology fields who have experience treating patients with FA. They volunteer to discuss complex FA solid tumor cases and offer treatment guidance.

The VTB was developed to provide support to individuals with FA and their treating physicians, who may have less experience with treating cancer in individuals with FA. The FARF VTB meets virtually with patients’ treating physician(s) to review cases and provide input for treatment from an FA-centric viewpoint.

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The Joel Walker Cancer Ideas Lab was sponsored by Nigel and Ann Walker, whose son Joel died of complications from FA cancer in 2016. Thanks to a bequest left by Joel and the continued support of the Walker family and community, innovative research efforts like the Ideas Lab continue. Individuals with FA have a greater risk of developing leukemia, head and neck squamous cell carcinoma (HNSCC), and other cancers compared to individuals without FA. Traditional therapies like chemotherapy and radiation are toxic to those with FA, which is why therapies are urgently need.

The project that won the $500,000 grant funding is entitled Modeling the Role of Environmental Responses in Fanconi Anemia Epithelial Stem and Progenitor Cells in FA Squamous Cell Carcinoma. This grant will develop models to better understand squamous cell carcinoma in individuals with FA using non-primate animal models and organoids created from FA patient cells. These models will allow the research team to develop a deeper understanding of the influences of external environmental factors and internal elements that contribute to the onset and progression of FA cancer. The models will also be used to test cancer prevention modalities that target aldehyde or retinoid metabolism and immune factors.

Funding for this grant will begin in early 2022. The research team is comprised of Ken Weinberg and Daria Mochly-Rosen from Stanford University, Hiro Nakagawa from Columbia University, Frank Ondrey from University of Minnesota, and Craig Elmets from University of Alabama at Birmingham. Markus Grompe from Oregon Health and Science University will serve as a collaborator.

Stay tuned to the FARF website, email newsletters, and social media channels for updates and outcomes from this grant!

To learn more, please contact Isis Sroka, PhD, FARF Scientific Director.

Read more about the Joel Walker Cancer Series

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Hello, FAmily! We are Katherine and Tony DiCamillo. I am the proud mother of four boys, one of whom is diagnosed with Fanconi anemia (FA). Our road to discovering Levi was a boy with FA felt so long and winding. Each time we pursued medical answers, we felt hopeful. Then, each appointment or test typically ended with fear or more questions.

During my pregnancy with Levi, we chose prenatal genetic testing, and got the call that our baby may have a genetic disorder called Edwards Syndrome. We were devastated. Most babies with Edwards don’t survive past birth. We were naive enough to never expect a child with any diagnosis and to take this initial scare as gospel.

Because of this, Levi’s pregnancy was labeled high risk. While Edwards was soon ruled out, the consensus was the same: something is wrong, we just don’t know what. We can’t even count how many doctors told us that phrase. Levi experienced intrauterine growth restriction, so he was monitored closely several times a week. Eventually, at 37 weeks, he stopped growing and labor was induced. Levi was strong, healthy, and very engaged with the world around him. He was also tiny, at 5 lbs 4 oz. I had never held a baby so small!He never spent any time in the newborn intensive care unit, and was treated for jaundice at home. We were so happy to go home and proceed with a normal life.

Slowly, as Levi grew, we noticed he was different than our other boys. It was tricky to tell if his sounds were happy or sad, he never slept very long, and his affect was somewhat flat. Our pediatrician recommended we engage with an early intervention program through our county, and Levi was soon receiving weekly speech, feeding, and occupational therapy. These supports were vital in discovering a tongue tie and they taught us about Levi’s sensory processing disorder. He continued to be small, labeled “failure to thrive.”

When we introduced foods to Levi, we began a painful journey with the gastrointestinal (GI) department at our local children’s hospital for his severe constipation. Every test came back normal. I remember clear as day, sitting with the GI doctor with my older boys and Levi. Pointedly, she said: “Are these all your children? Levi looks nothing like his brothers. He has a genetic disorder. See his eyes? He has epicanthal folds.” I felt defensive and crushed. I thought we made it through all of that already.

From there we were referred to genetics and endocrinology. Our list of specialists kept growing, and Levi’s medical world felt like a part-time job. We worried we were chasing a ghost but decided to go with our guts—we needed to find answers. As we were given Levi’s symptoms, like a typical American adult, I searched the internet for everything I could think of to help the doctors put these odd puzzle pieces together.

After two years of testing, on a whim we checked a small box on a form that screens for a BRCA2 mutation. We checked this box because several months earlier, Tony’s mother was diagnosed with cancer due to a BRCA2 mutation and Tony knew he had that mutation as well. When the testing came back, the genetic team video called us to let us know that most likely Levi had Fanconi anemia, and that I also had the BRCA2 mutation.

Because we had never heard of FA, we didn’t know how to feel about it. Our Colorado hematology team did a great job educating us, but some doctors have never heard of FA. I remember explaining to a doctor what FA was and why we were sitting in his office – it was so disconcerting. He had never heard of FA. Once we were connected with FA specialists via the Fanconi Anemia Research Fund, we felt such a deep release from worry, knowing it wasn’t our job anymore to educate the doctor.

The year of Levi’s diagnosis, we would meet with a medical expert and feel absolutely flooded. We would take the time to process our feelings and the new data, only to have the next appointment and be flooded again. Needless to say, our threshold shifted, and we found out quickly that to stay healthy as parents, we needed to be proactive in our emotional, spiritual and physical health.

​We had so much feedback from family and friends during this whole journey. Some said: “you both are small people! Of course, Levi is labeled ‘failure to thrive!’” Some said: “he looks happy and fine, so why keep testing him?” Some said: “Go with your gut.”

This is what we tell parents now, too. You go with your gut, and don’t stop pursuing answers until you feel release from it. Today we are preparing to move our family temporarily to Minnesota for Levi’s second prophylactic bone marrow transplant. We received his diagnosis just in time. We are surrounded by a community and have a deep faith in Jesus. Levi’s road to diagnosis was winding and confusing, but we know so many moments were orchestrated by heaven for Levi’s good. With hope in our hearts, we take another step with our giggly boy, so that ideally, he never knows what it’s like to have a blood cancer!

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In late 2021, the Fanconi Anemia Research Fund (FARF) held a focused workshop with physician scientists, researchers, individuals with FA affected by FANS, and their families. The goal of the meeting was to bring together those working on this issue and those living with it to develop a better understanding and map out what needs to happen to develop treatment options.

Parents Lorraine and Kevin McQueen started the meeting by sharing about their son Sean’s experiences with FANS and inspired researchers to reach consensus on a path forward for research and new therapies. Doctors from University of Düsseldorf, University of California San Francisco (UCSF), and Cincinnati Children’s Hospital Medical Center provided general clinical overviews and hypotheses on the causes of FANS based on their experience with treating patients. Subsequent talks on FANS by specialists in pathology, radiology, and ophthalmology from the National Institutes of Health and UCSF focused on abnormalities in the central nervous system and eyes that are common in FANS.

Dr. Jonathan Miner from the Penn Institute for Immunology provided perspective on FANS through the lens of a similar rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL) that shares similar neurological and central nervous system symptoms. Patients with RVCL exhibit mutations in the TREX1 gene, which is involved in DNA repair. Like FANS, there is limited understanding of RVCL disease etiology and there are limited treatment options.

The FARF staff is now working on an addition to the FA Clinical Care Guidelines to address FANS and developing a clinical review board for individual cases. In early 2022, FARF funded a new research project to examine the immune profiles of individuals with FA who have been diagnosed with FANS to find the underlying cause and an appropriate therapy to treat this condition. More on this grant will be shared soon.

It’s because of driven families, dedicated doctors and staff, and generous donors that we’re able to work on this issue. FA is complex and it’s our mission to understand more, advance research and find better treatments for all affected. Thank you for your support.

Special thanks to speakers who attended the FANS meeting:

Kevin and Lorraine McQueen
Eunike Velleuer, University of Düsseldorf
Michael Wilson, University of California San Francisco
Prashanth Ramachandran, University of California San Francisco
Stella Davies, Cincinnati Children’s Hospital Medical Center
Eduardo Caverzasi, University of California San Francisco
Nailyn Rasool, University of California San Francisco
Jonathan Miner, Penn Institute for Immunology

The post FARF Holds First Focus Meeting on Fanconi Anemia Neurological Syndrome appeared first on Fanconi Cancer Foundation.

For many, the holiday season is a time filled with excitement, gifts, delicious meals, and celebration, but for those who have suffered the loss of their beloved, holidays can be especially difficult. For those grieving, the holidays become a secondary loss, in that “death does not just create a single hole in one’s life. Instead it can impact many areas, creating multiple losses,” such as the loss of holiday celebrations with a loved one.

For those experiencing secondary loss, heartache, and complicated holiday-related feelings, you are not alone. For those who worry that the holidays will never feel joyful again, you are not alone. For those who miss how your loved one made you feel during the holidays, you are not alone. We see you and acknowledge that while this is a joyful time for many, it is a difficult time for you.

If you know someone who is grieving this holiday season, check-in, ask how you might be able to support them, and be present with them in their pain. This might just be the best gift you could give a loved one this holiday season.

Below is a link to an article about secondary loss around the holidays, which provides insights into coping with these complicated feelings. We want you to know that you are in our hearts as we navigate this complicated season together.

The post Coping with Loss During the Holiday Season appeared first on Fanconi Cancer Foundation.