The purpose of this website is to support, educate and raise awareness for children with rare disease.
Shane is 7 years old now, born in December of 2010 at Dartmouth Hitchcock Medical Center in Hanover, NH. Probably a good thing too as it wasn’t long before Shane found himself with a team of fine doctors there. Several months after arriving home things just weren’t right. Shane was starting to have trouble nursing, sleeping, reflux, “failure to thrive”, slow movements and not developing like your typical 6-9 month toddler. But really, what is “typical or normal”. So his mom and I continued on the current course with doctor follow-ups, tests and overnights in DHMC. To make a long seven year story short, in the late spring of 2014 Shane was diagnosed with a rare genetic disorder, CFC that lies on the RASopathy pathway. At seven, Shane is the way Shane is and I wouldn’t change a thing. He deals with his struggles in stride on a daily basis and I continue to learn from his heart, determination and vigor. Starting kindergarten this fall has been the next big step along Shane’s road.
The RASopathies are a group of genetic conditions caused by mutations in genes on the Ras-MAPK pathway. These conditions, including Noonan syndrome/Noonan-related conditions (NS), cardio-facio-cutaneous syndrome (CFC), and Costello syndrome (CS) share many clinical features, including developmental delay, gastrointestinal difficulties, skeletal abnormalities, hematologic abnormalities, and growth delay.
Upon finding this diagnosis, primarily from the Exome testing that Dartmouth Hitchcock offered to do on Shane’s behalf, we realized just how rare it was. After visiting many doctors, specialists and hospitals in Vermont, New Hampshire and Boston, come to find out CFC (cardio-facio-cutaneous) is very rare. So rare that Shane is 1-21 worldwide that has this disease. For more information go to cfcsyndrome.org
Now our challenge is managing everything; Shane, life, our family (as Shane has an older brother, Finegan), the medical part, everyone’s physical and mental well being and the newest endeavor of advocacy and awareness of this rare disease. Which by the way when you add the whole family of rare diseases together it actually affects 1 in 1000. Maybe, not so rare?