What is CLOVES Syndrome Community
In 2009 the mother of a child with CLOVES syndrome started a website and an organization, after she realized that no such resources existed for families and people with CLOVES.
The vision of CLOVES Syndrome Community (CSC) is an improved quality of life for those living with CLOVES syndrome. Our mission is to support, educate, empower and improve the lives of those affected by CLOVES syndrome.
CSC does this by cultivating a thriving patient community, convening medical and family conferences, publishing books for children, funding medical research and assisting families with long term medical costs. We also bring families together for Betsy’s Camp, an annual opportunity for community, fun and relaxation. CLOVES Syndrome Community is part of the Chan Zuckerberg Initiative’s Rare As One Network— a group of 30 patient-led organizations that are driving progress in the fight against rare diseases. We’re proud to be creating a patient-led research network to accelerate research and find treatment options for people with CLOVES and PIK3CA Related Conditions. CSC’s stakeholders are international and include: Individuals diagnosed with CLOVES syndrome and their families, friends, and caregivers; physicians and medical and allied health professionals; researchers; therapists; teachers; biotech and pharmaceutical companies. CLOVES Syndrome-related foundations and nonprofit organizations; and individuals with PIK3CA Related Conditions and their associated patient advocacy organizations.
We are very grateful for the help and support from CLOVES Syndrome Community. The journey through this diagnosis has not been an easy one. Almost every aspect of our life has become complicated. But CSC has been a major support and help in getting knowledge and experience from each of the CLOVES families, the screening guidelines and of course the financial assistance.”– CLOVES Family
CSC has been a lifeline to our family.– CLOVES Family
CSC’s culture truly feels like a COMMUNITY, not an organization. It feels intentionally inclusive and this allows for people to participate and benefit in ways that are most comfortable for them.– Mom of a child with CLOVES
CLOVES Syndrome Community has been a saving grace for our son. We likely wouldn’t be aware of treatment options currently available, or have the screenings that have helped us to stay on top of his care and give him the best life we can, had CSC not existed! We have met so many amazing families through this community that have given us so much hope for our son’s future. This community is bonded and is stronger together in the struggle to make our needs known and more treatment options possible. This organization is beyond a blessing and we are so grateful for all of the information and support that comes from this amazing organization.– Jenny
Mission and Goals
CLOVES Syndrome Community supports, educates, empowers and improves the lives of those affected by CLOVES Syndrome.
An improved quality of life for people with CLOVES Syndrome
- Provide information and resources to educate others about CLOVES Syndrome
- Foster and promote a supportive community
- Build and sustain a broad base of funding sources to support our mission and goals
- Utilize incoming funds to provide financial assistance to those impacted by CLOVES Syndrome
- Participate in and promote CLOVES Syndrome research to assist in a complete understanding of the disease.
CLOVES Syndrome Community’s Inclusivity Statement
CLOVES Syndrome Community is a 501(c)(3), nonprofit organization that embraces diversity. We are committed to building an inclusive community, where all individuals and groups belong. CLOVES Syndrome Community supports people with disabilities, the empowerment of women, people from diverse backgrounds, the LGBTQ+ community, and groups that have been historically marginalized. We know that we are stronger together.
Our organization intentionally prioritizes international collaboration and inclusion, programs and initiatives that address the unmet needs of our patient population as well as user accessibility of our website and other educational resources. We are committed to ensuring that medical jargon and research progress is understandable to patients and families. We know that learning about and integrating diversity, equity and inclusion, is an ongoing work in progress. We are committed to that work.
Please join CLOVES Syndrome Community, as we bring together families, healthcare providers, patients and diverse stakeholders together, to improve the quality of life for people with CLOVES.
Board of Directors
Board Member, CLOVES Syndrome Community
Joe joined CLOVES Syndrome Community in October 2019. With 16 years of business management experience, Joe has helped build industry leading renewable energy firms. Joe is currently Chief Operating Officer at Greenlight Energy Group, LLC, the first WBE-certified renewable energy provider in the U.S., and founder and CEO of Orion Renewable Energy Trading Group LLC, the largest provider of renewable energy certificates to the Federal government. Joe has also held senior management positions with leading global renewable energy and carbon market firms. Joe brings his dedication and passion for growing businesses to CLOVES Syndrome Community and lives in Brooklyn with his partner Kelly and her daughter Grace.
Board Member, CLOVES Syndrome Community
Kyle first learned of CLOVES after his nephew was diagnosed with it in 2019. The CLOVES Syndrome Community has helped educate his family about the disease and informed them of ways to help. He became associated with the CSC by becoming a volunteer in 2020. Kyle joined the Board of CSC in March 2022. He hopes CLOVES Syndrome Community can contribute to finding a cure for CLOVES and other rare diseases. Kyle is a Commercial Banker and resides in Charlotte, North Carolina.
Executive Director of CLOVES Syndrome Community
Kristen founded the CLOVES Syndrome Community website in 2009, after her daughter Riley was diagnosed with CLOVES. At that time, no organization existed to support families and people living with this rare disease. CSC became a non-profit organization in July 2011. Kristen is an advocate for people living with rare diseases and chronic illnesses and enjoys collaborating with other organizations, researchers, clinicians and providers. Her educational background is in Social work, Social justice and English. Recent past volunteer roles include Advisory Committee submissions reviewer for the Rare Children’s Storybook Project and Member of the Children’s Hospital Boston Family Advisory Council (FAC).
She represents CLOVES Syndrome Community as a National Organization of Rare Disorders (NORD) Member Organization, as a member of the Global Genes Foundation Alliance and as a participating member of The American Society of Pediatric Hematology/Oncology Vascular Anomalies Special Interest Group (ASPHO-VAC SIG). In addition, she is engaged with multiple biopharmaceutical companies to advocate for the needs of our complex patient population.
Kristen lives in Maine, with her husband Marc Cerabona. She has two college aged children, Cole and Riley.
Chair of the Board of Directors, CLOVES Syndrome Community
Lindsey is from St. Louis Missouri and has two sons Austin and Zack . She connected with the CLOVES Community in 2013 when doctors suggested that Austin (originally diagnosed at birth with KTS) may in fact have CLOVES Syndrome. After biopsies and reviewing all of Austin’s records, doctors at Boston Childrens Hospital confirmed his new diagnosis of CLOVES.
Lindsey is a senior sales representative for a distributor of packaging and shipping supplies called Tripack. She’s worked at Tripack for over 20 years and assists in the purchasing for the company. When she isn’t selling boxes, she’s spending time with her boy or her nieces. Her youngest Son Zack has just completed his first year of college at Central Methodist University where he is a member of the wrestling team. Austin is just about to venture back out into employment after maintaining strict quarantine due to Covid. She has 3 nieces Frye, Ella and Emma that she loves to spoil.
Secretary of the Board of Directors, CLOVES Syndrome Community
Steve joined CLOVES Syndrome Community in February of 2022. He is currently the Chief Operating Officer at Caring.com, a mission-driven company helping Seniors and their caregivers find long-term care. Steve has extensive leadership and management experience leading operations, strategy, sales, and marketing teams across a wide range of industries. He is passionate about helping the CLOVES Syndrome Community find ways to magnify their critical impact on our community.
Steve holds a Bachelor’s degree in finance and entrepreneurship from the University of Dayton and a Master’s in Business Administration with a focus on corporate strategy from The Ohio State University. He lives in Fort Mill, SC with his wife, April, and two boys, Noah (6) and Finn (4).
Treasurer of the Board, CLOVES Syndrome Community
Ashley joined CLOVES Syndrome Community during the process of becoming a formal organization in the summer of 2011. Ashley is a Certified Public Accountant. She has held various accounting positions and currently works full time as a Financial Reporting Manager for an oil and gas company. Ashley lives in Tulsa, Oklahoma with her husband Steve and children, Loretta and Van.
Board Member, CLOVES Syndrome Community
Irina joined the CLOVES Syndrome Community (CSC) board in February 2022. She holds a degree in Psychology and Neuroscience and hopes that her experience in healthcare research would be helpful to the CSC. Although originally from Turkmenistan, Irina currently lives in Montreal, Quebec, Canada with her partner and two daughters, one of whom has CLOVES. CSC has provided the much needed access to information and support for Irina and her family.
Vice Chair of the Board of Directors, CLOVES Syndrome Community
Sara is from Austin, TX and joined the CSC board in October 2019. The CLOVES community has played a crucial role in her family’s lives ever since they were told “I think your son has CLOVES, the good news is there’s a very strong community.” Sara’s hope is that everyone with a rare disease can find strength and support in a community for them. Sara is Senior Vice President, production at Austin PBS and an active member of her community. Her most cherished role is as partner to husband Jeremy and mom to their children Sebastian and Ryder.
Shannon Burkoth – Program Assistant
Shannon came into the rare disease space like many of you here. She was diagnosed with a rare disease in 2010. Her background is in healthcare and business management. In 2016, she began advocating for her rare disease group through Global Genes and grew a passion for advocating for all 7000+ rare diseases. While our disease groups vary, we are all striving for the same things; better quality of life, research, effective treatments and ultimately a cure for all. Shannon is proud to be part of the team here at CLOVES Syndrome Community.
Kristen Davis – Executive Director
Kristen founded CLOVES Syndrome Community in 2009, after her daughter Riley was diagnosed with CLOVES. At that time, no organization existed to support families and people living with this rare disease. CSC became a non-profit organization in July 2011. Kristen is a seasoned Executive Director of a global, patient-led advocacy organization with over twenty years of experience in social services and non-profit leadership.
Kristen represents CLOVES Syndrome Community as a National Organization of Rare Disorders (NORD) Member Organization, as a member of the Global Genes Foundation Alliance and as a participating member of The American Society of Pediatric Hematology/Oncology Vascular Anomalies Special Interest Group (ASPHO-VAC SIG). In addition, she is engaged with multiple biopharmaceutical companies to advocate for the needs of our complex patient population.
Noreen Fairley – Collaborative Research Network Coordinator
Noreen has worked supporting rare disease nonprofits for the last 7 years. Coming to the field from a childhood love of volunteering that evolved into multiple degrees focused on Nonprofit Management and International Administration. Past positions at several small nonprofits have allowed her to wear many hats and learn about all aspects of administration, program management, advocacy, communications, and development.
Noreen has attended and presented at rare disease conferences across the country and abroad. She has experience planning and executing patient and scientific conferences as well as interfacing with the research and pharmaceutical communities.
Seth Haddix – Science Advisor
As a research scientist, Seth has been involved in the study and treatment of disease since 2010. While he initially studied cancer, he saw a massive need for research in rare diseases that do not receive the same attention as other “blockbuster” health areas. He completed his Ph.D. from Texas A&M University (2019), where he investigated possible therapeutic targets for Duchenne muscular dystrophy, a muscle wasting disease that affects 1 in 3500 boys. As a postdoctoral associate at Baylor College of Medicine in the lab of Matthew Rasband, he is developing animal and cellular models, viral strategies, and unbiased proteomics techniques to investigate the development and function of the neuromuscular junction, which is dysfunctional in a number of rare diseases. At various times throughout his research career, Seth has also been involved in science education. As a graduate student, Seth organized and taught at a yearly Brain Day event at local elementary schools to increase children’s interest in neuroscience. As a newly appointed Science Advisor for CSC, Seth is excited to help explain the current state of CLOVES research and to help identify new investigatory avenues to pursue.
Scientific and Medical Advisory Board
Our goal is to provide you with the most up to date, comprehensive and accurate medical information related to CLOVES Syndrome.
All medical material on this website is developed with oversight and direction from CLOVES Syndrome Community’s Scientific and Medical Advisory Board (SMAB).
Denise Adams, MD
- Director of Complex Vascular Anomalies Program (CVAP) at Children’s Hospital of Philadelphia
Dr. Denise Adams is a pediatric hematologist oncologist in practice at Children’s Hospital of Philadelphia. Dr Adams will be leading a cutting-edge, multidisciplinary program that seeks breakthrough treatments and cures for children, adolescents and young adults with rare, life-threatening tumors and malformations of the vasculature, which includes the arteries, veins, capillaries, lymphatics and combined lesions. Of key interest to Dr. Adams is the improvement in care of patients with complex vascular anomalies. Dr. Adams describes her philosophy of care as this . “Since my first high school biology class, I have wanted to be a physician and since residency my passion has been the care of chronically ill children. In fellowship, I found a new passion and goal…to care for children and young adults with vascular anomalies. This was a spectrum of diseases with limited treatment options and high morbidity that needed the care of physicians with keen interest in discovery to improve their outcomes. This is my mission.”
Guillaume J.M. Canaud MD, PhD
- Professor in Medicine
- Head of the Overgrowth clinical unit at Necker Enfants Malades Hospital, Paris, France
- Head of the research laboratory “Precision medicine in rare diseases affecting the mTOR pathway” at Institut Necker Enfants Malades, Paris, France
Guillaume Canaud is a MD, PhD working at Renal Division of Necker Hospital in Paris. He did his medical school in Montpellier and moved to Paris in 2002 to perform his Residency in Nephrology (2002 to 2007). He became Senior Resident at Renal Division of Necker Enfants Malades (Prof. Legendre) in 2007. He spent four years from to 2008 to 2012 in the laboratory of Dr. Fabiola Terzi (INSERM U1151, Necker Enfants Malades Hospital), where he obtained his PhD degree in molecular and cellular biology. Then, as postdoctoral fellow, he joined the Joseph Bonventre’s Laboratory (Harvard Medical School) from 2012 to 2014 developing a project on the molecular mechanisms of chronic kidney disease progression. He rejoined Prof. Legendre’s team as Associate Professor in 2014 and opened his own research group dedicated to translational medicine. He obtained a very competitive European Research Council (ERC) starting grant (2015) for his research project on kidney and an ERC Proof of Concept Grant for his translational research proposal in rare diseases (2016).
Recently, Guillaume and his group, identified and reported in Nature a very promising therapeutic strategy for patients with a rare genetic disorder called PIK3CA-Related Overgrowth Syndrome. He published his work as first or last author in top leading medical and scientific journals such as Nature, The New England Journal of Medicine, Nature Medicine, Science Translational Medicine or Proceedings National of the American Science. He is the inventor of 10 patents, and received numerous awards including the Prize Jean Lecocq of the French Academy of Sciences (2018), the Jean Hamburger Prize from the City of Paris (2019) and the Eloi Collery Prize from the French Academy of Medicine (2019, highest distinction).
In 2019, Guillaume became full Professor of Medicine at Necker Hospital/University Paris Descartes and created the first multidisciplinary unit dedicated to patients with overgrowth syndromes. In addition, he launched a private/public consortium (acronym COSY: Cure Overgrowth SYndromes) to improve the care and outcome of patients with overgrowth syndrome that was awarded with 9.4 M€ grant from the French government.
Craig M. Johnson, DO
- Medical Director of Interventional Radiology, Division of Interventional Radiology, and Department of Radiology at Nemours Children’s Health in Orlando, Florida.
Dr. Craig M. Johnson is the Medical Director of Interventional Radiology at Nemours Children’s Health in Orlando, Florida. Dr. Johnson completed his Osteopathic Physician training at Des Moines University/College of Osteopathic Medicine in 2003. He went on to complete his transitional Internship at the University Hospitals Richmond Medical Center in 2004, his residency for Diagnostic Radiology at Aultman Hospital in 2008, and he completed his Fellowships at Ped Interventional Radiology – Children’s Hospital Boston, 2009 and Pediatric Radiology – Children’s Hospital Boston, 2009. He is board certified with the American Board of Radiology/Diagnostic Radiology and American Board of Radiology/Pediatric Radiology.
Dr. Johnson’s areas of expertise include CLOVES Syndrome, Interventional Radiology, Intestine Failure, Short Bowel Syndrome, Vascular Malformations, and Venous Anomalies. He is passionate about innovation, particularly within his specialty – pediatric interventional radiology – which provides new and better therapies for kids. He is also passionate about ensuring that the disadvantaged pediatric population has the opportunity to receive the best possible healthcare as everyone else.
Kim M. Keppler-Noreuil, MD
- Professor of Pediatrics
- Division Chief of Pediatric Genetics & Metabolism
- Director of Genetics & Metabolism, Waisman Center
- University of Wisconsin Hospital and Clinics
Kim Keppler-Noreuil, MD joined the Division of Genetics and Metabolism, Rare Disease Institute at Children’s National Medical Center as Professor of Pediatrics in November 2018 after her tenure at the National Human Genome Research Institute/National Institutes of Health as Clinician Associate Investigator from 2012-2018. Dr. Keppler-Noreuil completed her pediatric residency at the Arkansas Children’s Hospital, University of Arkansas for Medical Science, and her fellowship in Medical Genetics in the Department of Pediatrics, University of Alabama. She was on faculty as Professor of Pediatrics, Division of Medical Genetics at the University of Iowa Hospitals & Clinics, Clinical Director of the Iowa Registry of Inherited and Congenital Defects, and Program Director of the Medical Genetics Residency Training Program up to 2012. She also served as Co-Director of the Medical Genetics Course for the first-year medical students. She has been actively involved in patient care, teaching and clinical research during her career.
Dr. Keppler-Noreuil’s clinical and research interests have included clinical delineation of multiple malformation syndromes, and studies of epidemiology and pathogenesis of birth defects, inherited and chromosomal disorders. As the Clinical Director of Birth Defects, Iowa Registry for Congenital & Inherited Disorders (IRCID) from 1997-2012, she oversaw cases ascertained by the IRCID, and as Co-Investigator contributed to the development of case classification guidelines for the National Birth Defect Prevention Study (NBDPS), a multicenter study of genetic and environmental risk factor of over 30 major birth defects, as well as being the reviewer /classifier for NBDPS cases. Her recent research involving the Centers for Birth Defects Research and Prevention (CBDRP) data have been descriptive and genetics studies of cloacal exstrophy, Dandy-Walker malformation and hydrocephalus.
More recently, Dr. Keppler-Noreuil has led studies of clinical characterization, genetic studies, and therapeutic interventions, namely clinical drug treatment trials for somatic overgrowth and vascular malformation disorders, including Proteus syndrome and PIK3CA-related overgrowth spectrum (PROS). She and her colleagues at the National Human Genome Research Institute (NHGRI) completed a Phase 0/1 clinical drug treatment trial with an AKT1 inhibitor for Proteus syndrome, Pharmacodynamic study of Miransertib in individuals with Proteus Syndrome in the American Journal of Human Genetics in 2019. In addition, with colleagues from NHGRI, Cambridge University and University of Dijon, they completed and published results of an open-label drug treatment trial for PROS, including patients with CLOVES syndrome: Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum in Genetics in Medicine in 2019. Her published studies of PROS and Proteus syndrome comprise descriptive analyses of craniofacial abnormalities, cardiac, risk factors for thromboembolism, and prevalence and complications of vascular malformations and tumors.
Ralitsa Madsen, PhD
- Sir Henry Wellcome Fellow
- UCL Cancer Institute, UK
Ralitsa Madsen completed her PhD (2015-2018) with Prof Robert Semple at the Institute of Metabolic Science, Cambridge; here, she engineered developmental, stem cell-based models expressing activating PIK3CA mutations found in PIK3CA-related conditions and cancer. Following on from a short postdoc with Prof Semple at the University of Edinburgh, Ralitsa became a postdoc with Prof Bart Vanhaesebroeck at UCL Cancer Institute (London) in September 2019. In December 2020, she was awarded a Sir Henry Wellcome Fellowship to start her independent line of research, with Prof Bart Vanhaesebroeck and Prof Julio Saez-Rodriguez (Heidelberg, Germany) as her primary and secondary research sponsors, respectively. Ralitsa’s research focuses on quantitative (or systems biology-based) understanding of class IA PI3K signalling, with a particular focus on disease-associated, activating mutations in the PIK3CA gene and the development of improved cell-based model systems for this purpose. Ralitsa’s work in this area has also been supported by CSC. Alongside her research, Ralitsa is an open science advocate, taking part in various grassroots activities aimed at promoting research integrity/reproducibility nationally as well as internationally.
Julie C. Sapp, Sc.M., C.G.C.
- Genetic Counselor
- Clinical Genomics Section
- National Institutes of Health
Julie Sapp works as part of a multi-disciplinary research team where she draws upon her genetic counseling training and over a decade of behavioral science research experience to promote the integration of genomics into medical practice. The diverse clinical research portfolio of the laboratory she works in and her role as primary clinician working directly with research participants has positioned her to investigate a varied set of important social and behavioral questions related to the practice of clinical genomics and genetic counseling. Her work in this area has included qualitative and quantitative investigations of social and behavioral constructs such as the psychosocial impact of genetic disease, patient attitudes and beliefs, decision-making, research ethics, and informed consent. More recently, she has extended her early work to include applying these approaches to understand how best to meet the clinical demands of the expanding role of genome and exome sequencing and how to maximize the utility of genomic findings for both patients and practitioners. Her research focus in these efforts is to investigate the clinical utility of genomic techniques to develop best practices for the return of results and inform future studies of the expanding role of genomics.
Family Advisory Council Members
Lauren lives in the Pacific Northwest with her husband, two kiddos, and a very feisty cat named Calliope. She became involved with CLOVES Syndrome Community shortly after the birth of her daughter, Kiki, in 2015. Lauren is the author of Four Leaf Clovers, a book about life with differences for young children written in collaboration with CLOVES Syndrome Community. When she’s not busy with mom life, she publishes adult fiction under the name Elle Beauregard.
Robynn lives in Colorado with her husband and daughter Ellena, who was born with CLOVES in 2007. She is a stay at home mom who has been fundraising yearly for CLOVES, with Ellena, and their Loaves for CLOVES event. The CLOVES Syndrome Community has been a great place for them to funnel their interest in helping others with CLOVES.
Jenny Padilla is currently a NICU nurse. Her son Victor is almost 9 years old. She was able to attend the conference in Boston, when Victor was just 6 months old and was amazed to meet other children, teens and adults with CLOVES. Jenny quickly realized that she could help support the organization through fundraising and by raising awareness. Jenny has organized many small and large fundraisers and has been a great resource for other families who want to participate that way. Jenny says that her family has used CLOVES Community at times when they needed emotional support or help navigating life with a sick child. Jenny says that she couldn’t imagine life without this wonderful community, and their support towards all involved. This is the primary reason she has chosen to join the Family Advisory Council.
Kai was diagnosed at birth with Klippel Trenaunay Syndrome, and has since had physicians suggest an updated diagnosis of CLOVES Syndrome. After attending several KTS and CLOVES Syndrome community meetings, he realized how important connecting with the community is for learning how to advocate for his own health. He hopes to use his background in biotech as well as his own experiences in managing his own mental and physical health to help others in the community navigate the challenges of CLOVES Syndrome. In his spare time, you can find Kai exploring the foodie scene or playing disabled hockey with the Seattle Kraken Sled Hockey team. Kai lives in the Seattle area with his cat, Triscuit.
Lindsay was diagnosed with CLOVES Syndrome around age 14 and has been involved with CLOVES Syndrome Community ever since. She works as a transplant social worker in Pittsburgh, PA. Lindsay is dedicated to spreading awareness about CLOVES and advocating for this syndrome and for those affected. She is dedicated to making connections with other patients and families and values the relationships made within CLOVES Syndrome Community.
Lindsey Johnson Edwards
Lindsey Johnson Edwards is a PhD student at Southern Methodist University in Dallas, Texas. Lindsey was diagnosed with Klippel Trenaunay Syndrome at birth before she was re-diagnosed with CLOVES Syndrome as a teenager. Because of her life with CLOVES Syndrome, Lindsey has an interest in researching suffering, disability, and human flourishing. Her dissertation will focus on “quality of life” care and ethics. What fuels her research is her desire to improve the “quality of life” of CLOVES patients’ specifically and rare disease patients broadly. Because of this desire, Lindsey also volunteers at Children’s Medical Center in Dallas, works with research and support groups in the rare disease community, and participates in legislative advocacy for the rare disease community.
Learn more about the Family Advisory Council here.
Rare as One Network
We’re part of the Chan Zuckerberg Initiative’s Rare As One Network — a group of 50 patient-led organizations that are accelerating research and driving progress in the fight against rare diseases.
The Chan Zuckerberg Initiative’s Rare As One Project aims to strengthen the efforts of patient-led groups. It will help communities of patients, researchers, and clinicians work together to advance progress against their diseases and scale these efforts. Working in partnership with the rare disease community, the Rare As One Project will create shared infrastructure to lower the barriers to patient-led research and enable patient communities to learn from one another. No one is more motivated than patients to drive progress against their disease.
The CLOVES Syndrome Community profile and the profiles of the other 49 patient-led organizations can be found here.
Our goal with this grant is to create a patient-led research network with the aim to accelerate research and find treatment options for people with CLOVES and PIK3CA Related Conditions. You can follow our progress and sign up to receive updates here.