CFC INTERNATIONAL HISTORY
Originally written by Alexis Poss, MS, CGC
Duke University Medical Center
With Additional Contribution by CFC International
The Early CFC Syndrome Story
The CFC syndrome story began in 1968 with the first assembly of doctors discussing birth defects. An 11-week-old boy at the Wisconsin Orthopedic Hospital for Children, referred to Dr. Opitz from the cardiology service, was large, severely hypotonic, developmentally delayed, and exhibited sparse curly hair, ptosis, an abnormal EEG, a potential heart defect, and worsening hyperkeratosis of the skin. In 1969, Dr. Opitz saw a 4½-month-old girl referred for a large cavernous hemangioma, initially thought to be a variant of Noonan syndrome. Yet, her appearance reminded him of the boy from the previous year. In 1971, a 3¾-year-old girl arrived at the Wisconsin clinic, referred for developmental delays, heart defects, cavernous hemangioma, cleft palate, eye and skin abnormalities, and spasticity. Dr. Opitz proposed documenting the similarities among these cases to share with other clinical genetics professionals, but that plan never materialized.
The First Publication:
In 1976, Dr. Phil Pallister examined a 2-year-old girl with a similar condition in Montana, where Dr. Opitz would soon relocate. Although she initially experienced some developmental delays, the girl is now an independent adult who considers herself "perfectly normal." In 1979, geneticists led by Dr. Bruce Blumberg presented at the March of Dimes Birth Defects Conference, describing two children with "a new mental retardation syndrome characterized by distinctive facies, ichthyosis, and abnormal hair." Dr. Jim Reynolds, working alongside Dr. Opitz in Montana, started drafting a publication based on these findings. The findings were presented to a medical journal in 1985, presented at the 1986 David W. Smith Workshop on Morphogenesis and Malformations, and published the same year, featuring six cases detailed at the meeting and two more subsequently added, including a 7-year-old boy seen by Dr. James Coldwell in 1983.
Following this publication, Dr. Giovani Neri and his Italian colleagues reported two cases outside the U.S. in 1985 and 1986. In 1988, Dr. Verloes and his colleagues from Belgium and France published findings on two girls, one identified at 8½ years and the other at 3 years. They suggested that a 1986 paper by Drs. Baraitser and Patton in England, titled "A Noonan-like short stature syndrome with sparse hair," should be considered alongside Reynolds's paper as an extended description of CFC syndrome. By 1991, the conversation among doctors had evolved into a debate on whether CFC should be classified as a distinct syndrome or as Noonan syndrome.
Building a Support Network:
After the late 1980s publication of the CFC syndrome, medical professionals worldwide began diagnosing more children with the condition. However, parents seeking connections with others faced a lack of support networks. Around 1990, Mrs. Nancy Carlson sought other parents through a letter in Exceptional Parent magazine. Her daughter Kristen, born in 1987, was diagnosed with Noonan syndrome at age 2, but Nancy's research revealed inconsistencies. Her daughter's cardiologist later learned about CFC syndrome at a conference and revised Kristen's diagnosis, which her geneticist confirmed. Nancy initiated correspondence with families that reached out in response to her letter. Some early calls humorously speculated that CFC could stand for "constantly facing challenges" or "children, funny children." This networking blossomed, and beginning in October 1991, Nancy regularly reached out to newly diagnosed families and started newsletters. As postage costs increased for this kitchen-table nonprofit, the transition to a Yahoo Groups listserv greatly improved communication.
Meanwhile, Brenda and Cliff Conger in New York were searching for a diagnosis for their son, born in 1993, which took three years, leading them eventually to CFC. Brenda contacted Nancy via an ad in Exceptional Parent, and by 1997, Nancy helped Brenda take over the CFC support group, which then included 21 family contacts.
Incorporation and Growth:
Nancy Carlson handed over the CFC Family Network to Brenda Conger. In 1999, the organization became a nonprofit corporation, driven by Brenda's advocacy and expertise as a special education teacher. She participated in training programs with organizations such as the National Organization for Rare Diseases and the Genetic Alliance, developing a vision for the organization that included a syndrome brochure, website, newsletters, a Parents' Guide, medical advisors, and an eventual conference.
The First Conference:
The inaugural CFC conference took place in July 2000 in Salt Lake City, Utah, with 37 families in attendance, as well as nearly the entire medical advisory Board and staff from rehabilitative medicine, local geneticists, and leaders of associated support organizations. While uncovering the genetic cause of CFC remained a long-term goal, the medical advisors appreciated the opportunity to enhance their clinical diagnosis skills, and families cherished the chance to bond and create lasting friendships.
Progress and Research Initiatives:
By 2003, data collection became essential, prompting the organization to establish a paper registry that housed files on every child, including their photos and medical records. By 2004, CFC International expanded to nearly 100 families across nine countries, with an active Board of Directors. The organization's name changed to CFC International, introducing a new logo.
After attending a biobanking training in Washington, D.C., CFC International started banking DNA through the Genetic Alliance BioBank Program, attracting global researchers' attention. In 2005, CFC International collaborated with a research team led by Dr. Katherine Rauen, resulting in the identification of three genes associated with CFC syndrome: BRAF, Map2K1, and Map2K2. This discovery was published in March 2006, followed by additional publications and an NIH grant enabling the first International Symposium on CFC and Noonan syndromes in November 2006. CFC International continues collecting clinical data and DNA to advance treatment options for future generations.
Funding and Outreach:
In 2012, CFC International began investing significantly in research and hosted a Consensus Meeting in San Francisco, where medical professionals drafted syndrome management guidelines that remain relevant. This research culminated in "Understanding CFC Syndrome: A Guide for Parents, Providers, and Educators," published in 2016, offering essential information to families. In 2013, they provided partial funding of an inaugural research grant focusing on Growth Failure in CFC Syndrome.
Establishing Registries and Programs:
In 2016, CFC International launched an official worldwide registry in partnership with Patient Crossroads to collect data from at least 50% of the affected population. Later that year, Founder and Executive Director Brenda Conger announced her retirement after two decades of service to CFC families, marking a transition in leadership.
From 2017 to 2018, Gina Peattie served as part-time Executive Director, overseeing strategic growth. In 2018, the Board of Directors appointed Tuesdi Dyer, a parent of a child with CFC syndrome and former board member, as the full-time Executive Director.
Tuesdi successfully led a Family Fundraising Campaign at the end of 2018, enabling 110 families to attend the 2019 Family Medical Conference in Tampa, Florida, with no fee, including scholarships provided by the Stephanie Kohler Scholarship Fund. The conference drew an impressive 420 attendees.
In 2019, the Board presented its first full funding $30,000 grant to the University of Minnesota for the first Seizure Natural History Study in CFC Syndrome, fostering understanding of seizure-related challenges. The Lillian's Legacy Trustees were formed to support research on the management of seizures and neurodevelopmental disorders.
Throughout 2020, a web-based clinic series attracted over 80 families from 12 countries, leading to ongoing virtual caregiving support sessions. The Board granted another $30,000 to continue seizure research and expanded their staff with a Family Programs Coordinator to enhance family resources.
Continued Growth and Future Directions:
2020 also marked the inaugural CFC Syndrome Awareness Month in November, amplifying education and awareness efforts. In 2021, Lillian's Legacy Research grant continued to fund studies of neurobehavioral outcomes related to seizures. The organization hosted its first UK Meetup, attended by 14 families.
In early 2022, findings from a two-year Seizure Natural History Study were published, establishing critical insights about specific gene mutations and seizure prevalence. The 11th Bi-Annual Family Medical Conference in Irvine, California, became the first hybrid event, welcoming families from 11 different countries.
Looking ahead, CFC International continues to bring new family orientations for those newly diagnosed with CFC syndrome and has expanded resources addressing sibling support and transition to adult care. Additionally, they have provided over $250,000 in research funding. They continue to evolve services for a population of families that has grown to over 1,200. The next conference will be in Indianapolis, Indiana, in 2027 and will expand research and understanding by being held in conjunction with the Costello Family Conference and Rasopathy Scientific Symposium.
Thank you for your dedication to us ON THIS JOURNEY!
“Never doubt that a small group of thoughtful, committed people can change the world. Indeed it is the only thing that ever has.” -Margaret Mead
References
Department of Health and Human Services, Centers for Disease Control, National Immunization Program, April 13, 2005 “Background on polio vaccine.” www.cdc.gov/nip/events/polio-vacc-50th
March of Dimes, 2006 “The March of Dimes Story” www.marchofdimes.com/aboutus
March of Dimes Archives, Conferences and Meetings Records, 1938-2002;
Series 7: Birth Defects/Clinical Genetics.BioMarin Pharmaceutical, Inc., 2006, “PKUnparalleled Progress” www.pku.com/aboutPKU
Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=omim
American College of Medical Genetics, 2006 “History” www.acmg.net/about/history
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