About Cardio-Facio-Cutaneous (CFC) Syndrome
CFC Syndrome is a rare genetic disorder that affects about 800 individuals worldwide. While the condition was first clinically recognized in patients as early as 1968, the genes associated with CFC Syndrome were not identified until 2005. Over the last 15 years, 5 genes have been associated with the cause of the disorder: BRAF, KRAS, Map2k1, Map2k2, and most recently, YWHAZ. These genes are located on the RAS Pathway and are included among what is considered Rasopathy Disorders
CFC Syndrome Clinical Features
CFC syndrome is a rare genetic condition that typically affects the heart (cardio), facial features (facio) and skin (cutaneous). It is seen with equal frequency in males and females and across all ethnic groups. Children with CFC syndrome may have certain features that suggest the diagnosis, such as relatively large head size, down-slanting eyes, sparse eyebrows, curly hair, areas of thickened or scaly skin, and short stature. Most will also have a heart defect and/or seizures. While there is a wide spectrum of severity in CFC syndrome, most individuals will have some degree of learning difficulty and developmental delay. There are several characteristic facial features that are evident in CFC syndrome that may overlap with other disorder in the RAS Pathway, such as Noonan Syndrome or Costello Syndrome. herefore, accurate diagnosis is essential for proper medical management.
Get to Know CFC International
CFC International was founded in 1999 by Brenda Conger, a mother of a child with CFC Syndrome. The need to connect what was, at the time, 25 families was essential. Over the last 20 years, the organization has made a commitment to support families across the globe - now incorporating 800 families among multiple programs. CFC International offers: 2 monthly virtual support groups, an online support group, regional ambassador programs that provide geographically specific resources and support groups, clinical care guidelines, an annual CFC Syndrome medical clinic, an annual UK conference, a bi-annual European web-based conference, a bi-annual International Medical Conference, micro-grants for family medical needs, and more than $30,000 a year in research grants.
I am especially proud of ...
We are especially proud of the many ways we provide listening opportunities in our community that directly impact the services we provide. From our expansion into research to our more recent focus on better serving communities of color, we believe that our parents and caregivers have the best ideas for supporting all families. We are grateful to a generous community that continues to support our mission and proud that so many see the impact we make, and want to support our impact expansion. We are proud that we have always been a leaders in seeking out resources that make senses - investing early in a bio bank, registry, and research.
Excited to REN because...
We are elated to be a member of REN! To be included in the advancement of treatment for rare epilepsies is another area where we are truly proud. As we begin to recognize the impact seizures have on the quality of life of our families, we know that the inroads made through REN will save lives. We are most excited about the connections we can make in the research community, especially as we close out and release data on our first seizure natural history study.
My journey and motivation...
This journey began for our family in January 2014. Born with significant heart defects and additional complications, our son Emmett forever changed our trajectory. Little did I know he would personally change my career trajectory too. He was diagnosed with CFC Syndrome when was 4-months old. I remember the fear I felt, the worry about his life, and the significant grieving I experienced over the loss of dreams for his future. Slowly, I realized his future was his own and I couldn't write it for him, but I could rejoice in every milestone. I was anxious to begin my own journey to impact his life, and potentially better the lives of all families with a child that has CFC Syndrome. As a Certified Fundraising Executive, my career includes more than 20 years of mid size to large non-profit leadership experience, including non-profit management instruction at the university level for more than 3 years. I had also served on the board of museums, president of the Junior League, and a volunteer management expert in the Tampa Bay community. When I was asked to join the board of CFC International in 2016, I never imagined leaving my community leadership career behind to become executive director. But, in 2018, when CFC International's founder decided to retire, I decided to change course and have never looked back. I've been able to use my experience as non-profit "life cycle" transition consultant to allow the organization to dream big. I love the visionary and fundraising aspects of my role, and it's exciting to see how much our organization is growing. I do this work because Emmett has expanded my world. But, the reality is all of our children have expanded my heart. I wake up every-single-day filled with love for each and every family in our small, but mighty, community. Their journey has become my journey. And, their families have become my family.
By Tuesdi Dyer, Executive Director