Hello my name is Liz, My son Fabiel, was born having spasms. The doctors the hospital said he was fine. After 3 days we took him home, at home the spasms were getting stronger. We had no idea that they were seizures. He kept having them and every episode was stronger and stronger. On the tenth day we decided to take him to Miami Children's Hospital. In the E.R. several nurses tried to open an I.V. but nothing. Finally they were able to get some blood but still no I.V. The blood test showed that he had almost no calcium (hypocalcaemia). After several hours in the E.R. we were admitted. In the NICU, they kept trying to start an I.V. . They tried on the legs, arms, head, groin and nothing. Fabiel, just kept crying and screaming. I finally told them to stop, to let him rest. The doctor agreed with me. I was able to feed him and give him a bath. At 5 am the doctor walks in with a surgeon and he was able to open a central line. Fabiel, was able to get the calcium and every other medication going. The doctor then spoke to me about Digeorge syndrome. He said, he was almost sure that it was 22q11 deletion. Because of the symptoms Cardiac PDA and Hypocalcaemia. After almost 3 weeks in the NICU we were sent home. (w/ an apnea machine) Fabiel, did good at home, He had no more seizures and was eating REALLY GOOD... After his first birthday he had a heart catheterization(PDA closure), that was a success. Fabiel, is now 4 y/o weights 59 lbs. and has pulmonary stenosis, speech delay and asthma. The asthma runs all over my family. He has 2 other brothers that were born W/out the deletion, Danny 16 and Fabian 3. He is the only one in our family that has 22q11. Fabian(3) was born w/ Hydronephrosis (Kidney disease). Both Fabiel and Fabian are VERY HYPER but gift's from GOD. ALL 3 OF THEM... I would never ask to take back time to change anything about them.
Liz