Our Angelman Journey

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Hi, my name is Carrie. My son William has Angelman Syndrome. William was born at Thirty Four weeks due to my water sac separating from the uterus wall. Aside from having red jaundice at birth he seemed to be completely fine for being slightly premature. His bilirubin levels needed constant checking for several weeks until it was no longer a high concern but he came home after four days in the hospital. About three weeks old he started showing signs of retraction when he was breathing so his doctor started him on oral Prednisone.  Five weeks later and we are seeing a big change in the right direction and continued treatment. Thirteen weeks old was one of the worst nights in my life. Although it seemed he was getting better, the internal issues were getting worse and we had no clue. I couldn't keep him awake to eat, tried to change his diaper and he hardly opened his eyes. I decided to take him to the local emergency room because it is almost 1 am and I'm not waiting for his Doctor's office to open. I was praying I was just being paranoid and he was just tired. I got my answer when we parked, I heard a grunt from the back seat and when I looked, he wasn't breathing. We rushed him in and they seen the panic on my face. Through the tears they made out, He's not breathing. They grabbed his car seat and ran faster than I could keep up (I was still healing from the C-section). They kicked me out of the room twice. First time was to give him an IO in each leg because they couldn't get an IV (IO is in the bone). The second time was because they did a chest x-ray and his right lung collapsed so he needed a chest tube. It is unclear if their attempt to resuscitate him caused it or if that is what caused him to quit breathing. They were able to stabilize him and ventilate him then fly him out to a hospital several towns over that was better equipped for his care. He needed a heat lamp for hypothermia he got on the flight there. His blood gas levels were so high they were expecting organ failure. They took him off the ventilator because it wasn't enough and had to put him on an Oscillator which required him to be medically paralyzed and given heart medication because it delivers a thousand breaths per minute. This was everything they had, time for little man to fight. Every day I would sing to him and sit bedside just talking to him. Occasionally I was being goofy with his dad trying to take the sadness out of the room because maybe laughter will give him the courage he needed to fight but even though I laughed I was still breaking. I was up at five in the morning waiting on the doctors rounds so I can be part of the daily treatment and tests discussion. When he was asleep I cried until I passed out (you can tell by the heart rate if he was awake or asleep, otherwise you couldn't tell because he couldn't open his eyes). He fought for a total of five weeks before he could breathe on his own, then another week on oxygen and one more on his own before coming home. His testing showed he needed a feeding tube because when eating fluid went in his lungs, so he was sent home with a nasal feeding tube (NG). Surgery was scheduled for a permanent tube because he still had aspiration with the NG tube. At five months old he had surgery to place a G-tube in his stomach and he needed another month in the hospital. This time only two and a half weeks on a ventilator, a week on oxygen and a week on his own. Now all this hospital stay has him behind development wise so we were advised to seek in home therapy. Once he reached eight months old and had difficulty sitting up they suspected he might need more testing. One of his brothers has Down Syndrome so we talked with the geneticist and they had a idea of what to test for, Prader Willi. They took blood samples and sent off for testing. It came back as "something else" so they called me back for more blood to make sure the testing was right. After lots of questioning and persuasion I got them to tell me it was Angelman Syndrome they got a positive hit on but was told it might have been contaminated. I didn't care, I didn't want to be faced with a diagnosis without doing research. Right before his first birthday we got the call we were waiting on, "Your son has mosaic Angelman Syndrome". He was able to walk by two years, first word at five. He has a little sign language and a huge smile. He is working on iPad for communication needs but still uses the grunting and gesturing for most of his wants and needs. He is my shadow until guests show up, because he knows no stranger. He had abnormal EEG's until this past year. Multiple seizure activity caught on a sleep study in November, just two months until his eighth birthday. He needs medication to help with drool, sleep, and seizures. Momma is still his only complete word but hey I'm not giving up.