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Di-George Syndrome 22q11.2 deletion "Michael's Story"
Michael Medellin was born on November 25, 2011. Michael weighed 6.5 pounds and was 17 inches long. We were told he was a healthy boy. Michael had difficulty feeding at first. The nurse just thought he was having trouble latching on no big deal.. We got him to latch on and he was fed a couple times.. Everything else went fine the first night and we got to take him home the very next day. Michael learned how to feed and he loved feeding time. Michael would drink about 4 oz. each time he woke up. One day I noticed Michael's breathing sounded a little strange, when he was about a week old. After I went and saw his Doctor she told me not to worry about it and that it was normal for babies to sound like that. So I didn't think anything of it. At about 2 weeks old, Michael started drinking 6 ounces each time he fed. This was a lot for a two week old but he cried non stop until he was fed again. By now he was not gaining much weight anymore like he had been the first few days, but he was drinking a lot so I was concerned. Once again the doctor told me that it was fine, that he wasn't that much under weight and that we would keep an eye on it. At 3 weeks old I noticed Michael wouldn't sleep like normal babies.. He would take 20 minute naps each time he fell asleep, but he just couldn't sleep for some reason. It seemed like he was still hungry even though he drank a whole lot!
Michael didn't feel well at about 4 weeks old. Michael was unable to drink any milk without vomiting or without nasal regurgitation.. He looked weak and like he had blue patches on his skin and I knew something was wrong. I dialed 911 I didn't want to waste anytime. When they got to my house, they started asking me a bunch of different questions while getting us inside the ambulance. We got to the hospital within 7 minutes. They checked us in and gave him a room. When the nurse came into the room to draw blood, she noticed Michael turn blue and she said he had stopped breathing for a couple of seconds. She immediately called a bunch of Doctors into the room and had me step out. All I saw were about 10 different Doctors doing 10 different things. Nobody would tell me what was going on. I tried to peek into the room and noticed there was blood. I then panicked and one of the Doctors stepped out to tell me there was blood because they had trouble intubating him. He said they had to do it because Michael couldn't breathe on his own. They wanted to order a spinal tap and changed their minds about it. They didn't want to waste anymore time or take any chances. They told me a helicopter was on its way and to start heading to the Hospital they were going to fly him to. A chaplain walked towards me and I started to fear the worst. We said a prayer for Michael and then we left. As we drove we saw the helicopter in the sky with our baby in it. A night I will never forget. It took 40 minutes for us to get to the Hospital. When we got there I asked the lady at the desk if she knew anything and she said she didn't know and to wait in the waiting room. It seemed like forever. Two hours later a Doctor walked into the waiting room. He told me Michael was in stable condition but he had MAJOR breathing problems. After about 2 weeks and telling us his brain and heart were abnormal, they Sent us in for a video swallow study; they found out all the milk Michael had been drinking was going into his lungs and not into his stomach. They diagnosed him with Aspiration Pneumonia. They taught me how to drop a feeding tube down his nose and into his stomach and sent us home with a heart monitor and a feeding machine. After we were discharged, we drove home. His heart monitor was already going off on the way home and I didn't know how in the world I was going to do this. 8 different medications four times a day starting at 6 am and all the way back up to 1 am.. We were home only one day when I noticed Michael wasn't breathing normally, he was retracting. I immediately rushed him back to the Emergency room because I was afraid he might stop breathing again. I told them I thought maybe I had put his NG tube in wrong and that I was afraid milk was going into his lungs again. They did an x-ray and it showed the tube had been perfectly placed. They told me he was fine and were getting ready to give me the discharge papers. I refused to leave. I told them I didn't like how he was breathing and that I wouldn't know what to do if he stopped. While I was telling them this, Michael had a 30 second seizure and stopped breathing again. This time they didn't want to take the chance of causing trauma by trying to intubate him again. The only doctor available for that was only experienced in doing so for adults. They had to call a Doctor from a different hospital to come intubate him and after a few hours and getting him intubated, we went by ambulance. After spending almost two months in the NICU, they ran a bunch of tests, they said one valve in his heart was larger than the other, they said he would not thrive in childhood and that he would have learning disabilities because of an abnormal brain scan. They did a genetics test for a second time (first time he passed)and they discovered he was missing a piece of his 22nd chromosome. They diagnosed him with Di-George syndrome also known as 22Q deletion or VCFS. (Velo-Cardio-Facial Syndrome) Michael was not producing his own calcium which was caused by having Di-George and since he wasn't producing calcium, his brain was abnormal, his heart was and it was causing the seizures. We were devastated. But now we had learned what our baby had and could start treating him for all the different problems he was having. I had to give him calcium, so he wouldn't have seizures, phenobarbital to prevent seizures, pepcid for reflux, Iron, Vitamins, Tylenol, antibiotics. He was on a feeding machine and a heart monitor. It was going to take a while to sink in... He was born with 22Q deletion and it was something we were going to learn to live with because THERE IS NO CURE FOR 22Q deletion, there is only treatment for the different challenges that 22Q present.

187 views Oct 30, 2015

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