Cardio-Facio-Cutaneous (CFC) Syndrome:
The History and Evolution of CFC International
It’s sadness and fear that brings those of us with CFC syndrome together, but hope that unites us.
A Historical Perspective – Reynolds et al., (1986) first described eight patients with similar characteristics. These included:
- A distinct facial appearance
- Ectodermal abnormalities
- Psychomotor and growth retardation
- Cardiac defects
There Was No Hope…
- A handful of scientists working on CFC Syndrome
- No research funding
- A unique syndrome or a more severe form of Noonan?
- No central source of clinical information
- No treatment prospects
- No place for families and physicians to go for help
CFC Family Network
In 1999, the CFC Family Network was established and legally incorporated in the state of New York. There was a strong need for a medical resource for the doctors, patients, and families of those affected by CFC, as well as for research funding.
To strive to help each other cope with the challenges of raising a child with a rare and often medically involved disorder; to act as a clearinghouse of information on all aspects of CFC syndrome; to publish newsletters, an address book and CFC Parent’s Guide for all registered families; to educate the general public, the medical profession and government agencies by disseminating information on CFC Syndrome.
We started out with a listing of 21 known children and recruited Medical Advisors through authorships on research papers.
First CFC Conference!
In 2000 the first CFC conference took place in Salt Lake City with nearly the entire Medical Advisory Board, rehabilitative medicine staff, local geneticists, and the leaders of the Noonan and Costello support organizations. Medical advisors were excited by this unique opportunity to hone their abilities at making clinical diagnoses of CFC syndrome. Studying the photos of the children side-by-side helped them to see CFC vs. Noonan vs. Costello. This first meeting was a key step forward for physicians making clinical diagnoses of the condition.
Paper Registry Established
Data collection on our growing organization became crucial. We needed to find a way to track each and every CFC individual and set up files for future research. At this time in history everything was done in paper format with files on each and every child including their photos and medical reports. The Conger home was taken over by file cabinets!
BioBank is Established
By 2004 the advocacy organization grew to close to 100 families representing nine different countries. By then an active Board of Directors had emerged and the organization changed their name from CFC Family Network to CFC International. A new logo was introduced as well. CFC International funded their own BioBank of DNA through the efforts of a partnership with the Genetic Alliance and seven other rare disease organizations. This venture captured the attention of researchers from around the globe.
Gene Discoveries! The Doors of Science Flung Open for CFC International!
Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome Pablo Rodriguez-Viciana,1* Osamu Tetsu,1,2* William E. Tidyman,3 Anne L. Estep,1 Brenda A. Conger,6 Molly Santa Cruz,6 Frank McCormick,1,4 Katherine A. Rauen1,5†
Rodriguez-Viciana P et al. (2006) Science v. 311 (5765); 1287-90.
Three years’ worth of clinical data and two years of DNA storage paid off. CFC partnered with a team of researchers led by Dr. Katherine Rauen at the UC San Francisco Comprehensive Cancer Center. It only took our team 5 months to locate three genes responsible for CFC syndrome. The quick identification of gene location was a total team effort with board members from CFC International picking out the co-hort of children and pulling data and photos from the very organized files. Publication of the gene discovery occurred in March 2006 in one of the most highly visible formats in all of science and medicine.
November – 1st Scientific Symposium in Potomac, MD
We obtained an NIH grant to host the first joint International Symposium on CFC and Noonan syndromes.
CFC funds Consensus Meeting held in San Francisco, CA. CFC Medical Advisors and other experts join together to draft up the syndrome management guidelines.
CFC Funds First Grant for Research – Growth Failure Found in CFC syndrome children.
Clinical Features, Diagnosis, and Management Guidelines published in October issue of Pediatrics as a result of 2012 Consensus Meeting.
Production of “Understanding CFC Syndrome: A Guide for Parents, Providers, and Educators.” Parents now have an informational and care management booklet to share with schools, doctors, therapists and their extended family members.
CFC International launches the official world wide Registry with Patient Crossroads.
Summary – Passion and Commitment are the Key Ingredients!
- CFC is a rare and extremely variable condition characterized by distinct skin abnormalities, unique facial features, and cardiac defects.
- The identification of four genes that cause CFC syndrome has sparked interest in the study of similar syndromes that share the same molecular pathway.
- Future research endeavors include: additional genotype-phenotype correlations, natural history studies, and cancer risk assessment in this population.
“Never doubt that a small group of thoughtful,
committed people can change the world.
Indeed it is the only thing that ever has.”