This is the story of a teenager that lives in Ireland, that was born in a country without the possibility of a diagnose. He was then diagnose with CVID and a few years later when sequency was available he had his final diagnose:”DAVID Syndrome”. With this new diagnose he is now receiving a complementary treatment and his quality of life improved. He has a normal life now like any other teenager and looks forward to the future.
My 2 year old boy was diagnosed with NBFK2 David syndrome yesterday. His case is a little more complex or unusual as he also has Alopecia totalis and complete nail dystrophy. A lot to take in feeling completely lost right now.