That was the reaction of my wife and I in response to the diagnosis finally given to our daughter, 16 months of age at the time. That was also the reaction of all but 1 of the 50+ NYC and Long Island physicians of various disciplines that met our daughter. We had been seeking answers since she was 2 weeks old and finally at 16 months, thanks to the Children’s Hospital of Philadelphia, we were given a name: Cardo-Facio Cutaneous Syndrome, also known as CFC, a rare genetic condition that affects the Heart, Facial Features and Skin. Well, we now had a named diagnosis, but were no closer to any answers.  When will she start to suck and swallow her bottles? How long will we feed her through this tube? When will she stop vomiting?  Will she ever feel hunger? There is such little data on CFC that our daughter’s gastroenterologists, cardiologists, and ophthalmologist were asking us most of the questions. Of course we didn’t have great answers, but we did have a lot of real life experience to share. We immediately became CFC “experts” and I am convinced that every one of those 50+ physicians are now better doctors after meeting our daughter. Everyone can always learn something new.

Our daughter is one of <200 known and confirmed diagnosed individuals, worldwide, with CFC Syndrome. The affect manifests differently in each child but commonalities certainly exist. Approximately 90% wear glasses and 50% have severe feeding issues such as my daughter. Most all have severe reflux and trouble sleeping (to put it mildly), including our daughter.

She is now 5 and as we educate the public school system of her needs, I am quite proud to be one of many parents struggling with the Kindergarten NYS Common Core Curriculum. Matter of fact, I proudly tell the story that on her first ever homework assignment (and mine as a parent) I ultimately guided her to very respectable 0 for 3!—How can that not be the genesis of her opening line for a future college application essay 11 years from now? “0 for 3, Thanks Dad!”

We still don’t have answer’s but we do have an incredible amount of experience to share as we mentor new families entering the CFC worldwide community. We don’t have answers but we do know an awful lot about genetic pathways, gastronomy-tube feedings, changing g-tubes and feeding therapy. We don’t have answers but we did meet an incredible group of special needs educators and providers who continuously teach the three of us. We don’t have answers but we do now have family dinners of yogurt, extra well-done smooth mac & cheese, chocolate pudding and a challenging crunchy cookie for dessert….PROGRESS!