C.3314+1G>T I won't pretend I really know what this means. I do know that it signifies the 'address', somehow, within genetics. This particular one is a marker for a mutation on Eddie's 17th chromosome. This mutation is Neurofibromatosis. ~~~~~~~~~ Eddie is two years old. He lives in Cardiff with myself (mum), his dad, his brother and our 3 cats. Eddie loves cats. Eddie is a very happy and sociable little boy. He has a fantastic sense of humour, a cheeky attitude, he's adventurous and he's fearless. He loves a cuddle, warm blankets and watching 'Hey Duggee'. He is smart, meeting or ahead of his milestones and as healthy as any 2 year old should be. He also has Neurofibromatosis Type 1 (NF1). NF1 is a genetic condition. It can be hereditary, as is in Eddie's case, or can be a spontaneous mutation. In fact, whilst chances of passing the NF1 to offspring is 50/50, 50% of all NF1 cases are quite random, out of the blue. Maybe from that you're already getting a picture of how surprisingly common NF1 is It is a lot more common than you'd think. It affects 1/3000 births. That's more than Cystic Fibrosis and many other more widely known disorders and yet it's almost unheard of. Admittedly, since Eddie was born, it opened my eyes to just how many people around me, people I know, have it. I've bumped into 3 complete strangers with it, one in my small GP's waiting room. I even remembered/realised an old childhood friend has it. Ultimately, that's why I've started writing this; to vent, to support, to spread general awareness. I hope, if you're discovering this at the beginning of your NF1 journey, either for yourself or as an parent, it can help with all the confusion. Alas I am no expert... but I can try....