THE HISTORY OF CFC INTERNATIONAL
Originally written by Alexis Poss, MS, CGC
Duke University Medical Center
With Additional Contribution by CFC International
But first, the CFC Syndrome Story:
The CFC story itself begins in the same year as the first gathering of doctors to discuss birth defects. In 1968 an 11-week old boy at the Wisconsin Orthopedic Hospital for Children, part of the University of Wisconsin, was sent to Dr. Opitz referred from the cardiology service. This baby was large, severely hypotonic, developmentally delayed, with sparse curly hair, ptosis, an abnormal EEG, possible heart defect, and hyperkeratosis of the skin which became worse with age. Then, in 1969 Dr. Opitz saw a 4½-month-old girl referred for a large cavernous hemangioma. She was thought to represent a variant of Noonan syndrome, although her appearance and constellation of congenital anomalies reminded Dr. Opitz of the boy he had seen the year before. In 1971 a third child came to the Wisconsin clinic; this was a 3¾-year-old girl referred for developmental delays, heart defects, cavernous hemangioma, cleft palate, eye abnormalities, skin abnormalities, and spasticity. At this point Dr. Opitz suggested putting together a paper to share the similarities of these children with other doctors interested in clinical genetics, however this was not accomplished.
The First Publication:
In 1976 Dr. Phil Pallister saw a 2-year-old girl with the same condition in Montana (where Dr. Opitz would soon move his practice). This girl was more significantly delayed initially, although it is heartening to know that as an adult today she is living self-sufficiently and considers herself “perfectly normal.” In 1979, a separate group of geneticists led by Dr. Bruce Blumberg made a presentation at the March of Dimes Birth Defects Conference describing two children with “a new mental retardation syndrome with characteristic facies, ichthyosis, and abnormal hair.” Dr. Jim Reynolds, working with Dr. Opitz in Montana, started to put this together into a publication. This paper was submitted to a medical journal in 1985, was presented at an invitation-only meeting for leading clinical geneticists called the David W. Smith Workshop on Morphogenesis and Malformations in 1986, and then published in the same year. At the David Smith meeting 6 cases were presented; the publication contained 8 cases because cases were added following the presentation, including a 7-year old boy with this condition seen by Dr. James Coldwell of Oklahoma in 1983.
Following this publication Dr. Giovani Neri and his Italian colleagues published a report with the first two cases outside the United States, an 18-month old boy seen in 1985 and a 22-month old boy seen 1986. This was followed by a 1988 publication by Dr. Verloes and his Belgian and French colleagues on a girl of Greek descent ascertained at 8½-years and a girl seen at 3-years of age. These authors also pointed out that another 1986 publication by Drs. Baraitser and Patton in England called “A Noonan-like short stature syndrome with sparse hair” ought to be taken together with the Reynolds paper as further description of CFC syndrome. Five more cases were published in 1989, another two in 1990, and by 1991 debate was breaking out asking whether CFC should be considered a distinct syndrome. Some doctors advocated that it was the same as Noonan syndrome, others that it was a separate syndrome.
CFC Family Network Lays the Foundation for CFC International:
Once the CFC syndrome was published in the late 1980s doctors around the world were able to start diagnosing children with the condition. Unfortunately, when parents would ask their geneticist for another family to talk to, there was no network available among the parents to offer support and hope. Around 1990 Mrs. Nancy Carlson wrote a letter to “Exceptional Parent” magazine, searching for another parent. Nancy’s daughter, Kristen, was born in 1987, diagnosed with Noonan when she was 2 years old, but then Nancy did her own research at the college library and saw that Noonan was not a perfect fit. Kristen’s cardiologist went to a medical conference where he learned of CFC syndrome and subsequently changed her diagnosis. Kristen’s geneticist apparently agreed that the diagnosis fit. Nancy started a correspondence with the families who responded to her letter in “Exceptional Parent.” Nancy describes some of those early telephone calls in which they joked that CFC might stand for “constantly facing challenges” or perhaps “children, funny children.” With this birth of a CFC syndrome family network Nancy began to regularly answer calls from newly diagnosed families and send out newsletters starting around October 1991. The cost of postage was getting expensive for this kitchen table non-profit, and so a listserv on YahooGroups was a welcome development. This made sharing information and support fast, easy, and free.
While this was going on from Nancy’s home in New Jersey, in New York Brenda and Cliff Conger were searching for a diagnosis for their son, born in 1993. Three years of investigation finally brought them to the diagnosis of CFC. Brenda then contacted Nancy through an ad in “Exceptional Parent” magazine. Nancy worked with Brenda to take over the CFC support group in 1997; at that time the family list included 21 names and addresses.
1999, The CFC Family Network becomes a
Non-Profit Corporation:
Brenda spent those early years learning as much as she could about sharing information with families and advocating for children with a rare disease. A special education teacher, she understood the needs of children with medical needs, but also made sure she attended advocacy training both hosted by the National Organization for Rare Diseases and by the Genetic Alliance to learn how to obtain more awareness for CFC syndrome. She officially incorporated the CFC Family Network in 1999 in the State of New York and created a vision for the organization. The first vision included: a syndrome brochure, website, newsletters, Parent’s Guide, medical advisors, and eventually a conference.
The first Mission:
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.
The First Conference!
The first CFC conference took place in July 2000 in Salt Lake City, Utah with 37 families attending, nearly the entire medical advisory board (Drs. Allanson, Carey, Kavamura, Neri, Noonan, and Opitz), rehabilitative medicine staff, local geneticists, and the leaders of the Noonan and Costello support organizations (Wanda Robinson and Colin Stone, respectively). While discovering the genetic cause of CFC seemed a long way off at the time, the medical advisors were quite excited by this unique opportunity to hone their abilities to make a clinical diagnosis of CFC syndrome. Among all the discussions, lectures, examinations, blood draws, and other (fun) activities, perhaps the most exciting was the opportunity to take photos of the children in attendance and then study them side by side. This parsing of CFC vs. Noonan vs. Costello vs. “other” was a key step forward for physicians making a clinical diagnosis of the condition. The best part was that lifelong friendships were sealed!
In 2003, a 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!
The CFC Family Network Becomes
CFC International
By 2004 the support organization grew to nearly 100 families representing nine different countries. Leadership by then encompassed an active Board of Directors. The Board changed the name from CFC Family Network to CFC International and introduced the cheerful new logo they still have today.
After attending a training program in Washington, DC on biobanking, CFC International boldly moved forward to bank their own DNA through the jointly owned Genetic Alliance BioBank Program. This venture captured the attention of researchers from around the globe. By the fall of 2005, CFC International partnered with a team of researchers led by Dr. Katherine Rauen at the UCSF Comprehensive Cancer Center. Two years worth of clinical data and DNA storage paid off as the collaborative team efforts quickly located three of the genes responsible for CFC syndrome: BRAF, Map2K1, and Map2K2. Publication of the gene discovery occurred in one of the most highly visible formats in all of science and medicine in March 2006. Additional publications followed quickly, along with an NIH grant to host the first International Symposium on CFC and Noonan syndromes in November 2006. CFC International continues to collect clinical data and DNA with the hope to move research forward into treatment programs to help the next generation of affected children.
Funding for Research Begins
In 2012, CFC International began making major strides in investment of funds in to research and treatment. The organization funded its first Consensus Meeting held in San Francisco, CA. CFC International’s Medical Advisory Board members and other experts join together to draft up the syndrome management guidelines. The organization continues to work to update the guidelines as new research emerges, but most of these guidelines are still the most relevant treatment guidelines today. These full management guidelines, Clinical Features, Diagnosis, and Management Guidelines, were published in the October issue of Pediatrics.
In 2013, CFC International funded their first official research grant. The study focused on Growth Failure in CFC Syndrome.
All of this new data led to the production of “Understanding CFC Syndrome: A Guide for Parents, Providers, and Educators” in 2016. This finally gave parents an informational and care management booklet to share with schools, doctors, therapists and their extended family members.
Launching a Worldwide Patient Registry:
In 2016, CFC International launched the official world wide Registry with Patient Crossroads, which is now Invitae. CFC International continues to maintain and recruit information into this registry with goal of gathering data on at least 50% of the affected population.
In 2017, A Leader and Founder Moves On:
In late 2016, Founder and Executive Director, Brenda Conger, announced that she would be retiring from CFC International. After more than 20 years of dedication to CFC families, it was time for she and her husband Cliff to sell their ski business and move with Clifford to warmer weather. She had dedicated countless sleepless nights to ensuring the success of eight family medical conferences, and the 2017 Family Medical Conference in Houston, Texas would be her last one. This conference was a true milestone, marking Brenda’s last day as Executive Director, beginning a new era of leadership at CFC International.
Gina Peattie led the organization as part-time Executive Director from 2017 to 2018. During that time, Gina and the Board of Directors at CFC International examined the astounding growth Brenda Conger began and the three-year strategic plan that would lead them into the next decade. Strategic planning made it clear that it was time for the organization to take a giant leap to hire a full-time executive director. Because Gina was not ready to leave her other professional commitment with the Children’s Cardiomyopathy Foundation, she decided to step down.
A New Executive Director Emerges
In 2018, the Board of Directors led a search to find a full-time Executive Director. Former Board member, Tuesdi Dyer, threw her hat in the ring - knowing that her love for all of the CFC International families was driven by her dedication to her own child, Emmett, who also has CFC syndrome. In the past 5 years, she’s worked to drive funding to the organization to provide more services and assistance to families, increase programming, develop research, and add more options for families to convene and share in experiences.
Tuesdi led the organization into a successful Family Fundraising Campaign at the end of 2018, with families raising enough funds to cover registration expenses for the 2019 Family Medical Conference in Tampa, Florida. There was an overwhelming response to registration, with over 110 families attending the conference. Nine families were even granted scholarships through the Stephanie Kohler Scholarship Fund to receive travel and accommodations. The conference hosted 420 attendees - a crowd we may not have expected 20 years ago!
At the 2019 conference, the Board of Directors presented $30,000 to the University of Minnesota to conduct the first Seizure Natural History Study in CFC Syndrome. This laid the groundwork for understanding a lesser understood comorbidity - seizures. Named in memory of their daughther, Lillian, Kevin and Glenda Hux initiated a vision to make sure families never have to fear seizures. They developed the Lillian’s Legacy Trustees, a dedicated group of commited leaders who raise money for research in CFC syndrome. The Lillian’s Legacy Research Fund at CFC International continues to grow with the long-term goal of managing seizures, neuro-developmental disorders, and other complications in CFC syndrome.
During the summer of 2020, the team launched resources through web-based clinics for families, hosting the first CFC International and Cincinnati Children’s Hospital Rasopathy Clinic partnership program over 6-weeks. More than 80 families attended virtually, from more than 12 countries. The success of this web-based conference experience launched virtual caregiving support sessions for the remainder of 2020 and into 2021.
In August 2020, with the review and input of the Medical Advisory Board, the Board of Directors and staff leadership voted to grant another $30,000 in funding to the University of Minnesota to finish their final year of seizure research. CFC International also hired its 3rd employee - a Family Programs Coordinator. The position was targeted at growth among the Family Liaison programs and the development of additional quality of life resources for our families. CFC International added two online (Zoom) support groups, welcoming families around the world for monthly support and discussion about the needs of their families and their children with CFC syndrome.
2020 also marked the FIRST CFC Syndrome Awareness Month - officially designating the month of November as the time for increased understanding, education, and awareness for individuals living with CFC syndrome.
In 2021, the Lillian’s Legacy Research grant funded the University of Minnesota once again, but with a focus on neurobehavioral outcomes of children with seizures in CFC syndrome. But it was big year for CFC International for another reason. 2021 was host to the organization’s first UK Meetup. The event was held over one weekend at the Lake District Calvert Trust and was attended by 14 families living in the UK - marking an event that will continue every other year.
A Natural History Study of Seizures is Complete
In early 2022 the research team at the University of Minnesota of Rene Pierpont, PhD and Daniel Kenney-Jung, MD published their findings from their 2-year Seizure Natural History Study in CFC syndrome. The study concluded many findings, some of which were a designation of specific gene mutations and seizure prevalence.
2022 also hosted the 11th Bi-Annual CFC International Family Medical Conference in Irvine, California. It was the first event that was both in-person and virtual - welcoming families from 11 different countries online for the 3-day event. It was also the first event to welcome a full presenting sponsor - The Scutero Family Foundation. The format of the event also shifted, allowing families to meet with experts in CFC syndrome after the conference, rather than before the conference.
So, what’s next?
A lot! We are starting with adding virtual support sessions and webinars for families, providing a new Request for Proposals for research in 2023, and hosting our second United Kingdom based family conference in October 2023. We will also be welcoming the addition of new regional meetups around the country. The Family Ambassador program - with 51 parent volunteers - will be transforming to meet the needs of families at an accelerated diagnosis rate.
In 2023, we will begin adding New Family Orientations, so caregivers whose loved one is newly diagnosed with CFC syndrome can get answers about navigating resources in their communities, what CFC International can do to help, and answer lingering questions about diagnosis and what to expect.
The Research Workgroup is developing a more comprehensive and interactive publication library, with the goal of bringing published CFC syndrome research to families for free. And in July, CFC International will be joining the 2023 Rasopathy Scientific Symposium in Denver, Colorado, leading roundtables of discussions with diagnosed families and providers. Staff leadership will be leading the Rare Epilepsy Network as chair, delivering on increased understanding of seizures in CFC syndrome. Additionally, this role will help us better develop our relationships with Rasopathy Clinics around the world.
The team at CFC International is working hard to add resources for parents regarding sibling support, pediatric to adult transition, bereavement, and more. And, we are also working to lead our first organizationally driven clinical trial. After the success of our CFC Clinic at Cincinnati Children’s Hospital Rasopathy Clinic, we are even exploring our 2nd multi-disciplinary clinic day, so stay tuned.
Finally, the board of directors and staff leadership will be setting the stage for the future of CFC International, addressing our direction in the 2024 - 2026 Strategic Plan.
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
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American College of Medical Genetics, 2006 “History” www.acmg.net/about/history
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