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My son , Alex, was born on Dec 3rd 2001. At 7 months preganant I learned that Alex had a congenital heart defect ( at that time was told it was Truncus arteriosis) and later an amniocentesis diagnosed Alex with Mosaic Turners Syndrome. After Alex was born ( at Evanston Hospital) he was put on a ventilator and taken to Childrens Memorial Hospital in Chicago.It was later determined after they did an echocardiogram and they drew his blood that he did not have Truncus arteriosis nor Mosaic Turn ers Syndrome. He had a heart defect called Tetralogy of Fallot with pulmonary atresia and DiGeorge Syndrome. So we of course met with Immunologist, genetic counselors, cardiologists, cardiac surgeons, pulmonologists, ect ect. Alex had low B and T cell counts and we were in isolation with him for the first few months which meant I was not able to touch him, skin on skin, for quite a while, that was hard. 8 months later we took Al home for the first time ever with a tracheostomy and completely dependent on a ventilator. In addition he had a feeding tube and was completely G tube fed. ( and on a ton of meds!) I am a nurse, however this was a whole new world for me. Luckily I had a ton of support from my family and my mom is also a nurse. What a blessing there! We had around the clock nursing in the beginning. Alex has had many surgeries, including open heart at 1 1/2 years old. I remember the cardiologist running into the waiting room during Alex’s open heart cheering” he has a thymus gland and its a good size one too!” At 2 1/2 years of age we were able to get him off the vent, however he was unable to get decannulated. We then found out he had tracheal stenosis and malacia and had to have tracheal reconstructive surgery. After that, he was finally able to be trach free!!! Its been a long road, Alex is now 8, attending 1st grade ( special ed), goes to physical therapy, occupational therapy, and speech therapy at school and is a very happy little guy! I once had a doctor tell me “these babies typically don’t live past a year old”……..How sweet is is to beat the odds!!!!

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