Hi Sandra,

I live and was born in Madrid, bur my mother was also from the north (Pamplona). Where is your father from?

Chresten is my third child, I have two girls (4 and 1 1/2), who are fine but of course will need to be tested after his genetic study is completed. You know, the most scary part of the whole story was when we didn’t know what was wrong with him... I could just feel that I was losing him. My husband was in the States at that time and I was really worried. No doctor could find out what was wrong. When my pediaetritian came into the scene (he was on holidays) he sent him immediately to the hospital. The panic lasted two days, until he recovered to normal levels (his sodium was at 109). Now that I know more about the illness, I am much more calm and also trying to bring the calmness to my home. I want him and the rest of us to have a normal and happy life, with the huge respect that his condition deserves, of course-

I have actually contacted a good endocrynologist, with experience in cah, but I will double check with Dr. New. The incidence of the illness in Spain is quite low.

Nobody cannot explain yet why the hospital missed the diagnostic at the newborn screen. I haven’t done anything in that front yet, because we don’t have the final genetic study of Chresten. The tests done so far are not 100% clear if it is a 21-hydroxilase deficiency or 11. I am expecting the final result to decide what to do. As I said, the incidence is low here, so it’s quite amazing that they miss one of the very few cases!

I’m happy to hear that your son is doing so fine. It’s very comforting!

Thanks a lot for your support!