SYDNEY ~ 3 YEARS OLDRetrun to 22q Stories
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Our dear Sydney Jaymes came into this world on November 25, 2009. My pregnancy was going very smoothly and was uneventful until my 28th week. My latest ultrasound showed that she was surrounded by quite a bit of amniotic fluid- about twice that of what was considered normal. This was enough for my OB/GYN to send me to a perinatal specialist. The doctor examined her from head to toe, looking at everything, especially her heart. He found nothing wrong with her. She was very active, and there appeared to be nothing out of the ordinary, except for that extra fluid. He told me and my husband, "I can't guarantee that there may be something going on, but if I were to play the Vegas odds, I'd say this is just a fluke." Sydney was born via c-section, and the birth did not go quite as planned. After she laid on my chest for less than a minute, I heard a nurse say that her lips were turning blue. I didn't realize at the time that she had stopped breathing. She was whisked away before I knew what was going on, and the next thing I knew I was told that she was taken to the NICU and placed on a breathing tube. She had been born with fluid in her lungs. The next day she was breathing on her own with the help of an oxygen tube, but she had stopped breathing twice more and had to be resuscitated. Despite all this, my husband and I believed that her lungs would soon dry out, and that we would take our daughter home with no further complications.
As soon as I was allowed, I held my daughter and tried to feed her. Something very strange happened. The milk began to come out of her nose, and her oxygen level dropped. I looked at the nurse and she told me they didn't know why that was happening. I was very confused when I went back to my room that night. It still hadn't hit me that something was very wrong. I fell asleep, and woke up chilly so I called the nurse and asked for another blanket. The nurse asked if it was for me or the baby. I told her it was for me. I hung up the phone and something made me say out loud, although I was talking to no one, "I don't have my baby with me." Hearing these words come out of my own mouth, I finally broke down in tears. The next day things took another turn for the worse. The doctors had begun monitoring her brain activity, and the EEG
showed "slight seizure activity". We were told that she was to be transferred to another hospital with a higher level NICU that afternoon to undergo more testing. The gravity of the situation began to sink in as I saw my little girl wheeled into my room in a plastic box, hooked up to various tubes and wires. I saw her through tears for just a few minutes before she was taken away, and I was released from the hospital to go home, without my beautiful Sydney. My husband and I visited her every day, and her condition began to improve. She was taken off her oxygen tube, and was eating more every day, even though milk continued to come out of her nose. Her symptoms continued to puzzle everyone. She was seen by every different specialist under the sun. We were told that a geneticist had come by, and that she wanted to take a look at her chromosomes. We were told that they were testing her for something called DiGeorge Syndrome. The fact that they were looking at her chromosomes was somewhat unnerving, but we were reassured because one of the nurses said "she probably doesn't have it because those children usually have serious heart problems."
Ten days after she was born, we were allowed to take her home. Our families were ecstatic to finally meet her. We were so glad to have her home, but at the same time we were terrified every time we fed her. She seemed to choke and gag every few minutes. She startled very easily. Occasionally she would have episodes of shaking and tremors. We just didn't understand what was going on with our daughter. Another couple of weeks later, we finally had our answer. She had tested positive for DiGeorge, what we would later learn to be 22Q Deletion Syndrome. The geneticist told us the good news first. Her heart was perfect. The only thing she was concerned about in the long term was her speech. Although the feeding was a problem now, the choking and gagging would surely improve with age. Developmental delay was common, but she was confident that by the time she reached kindergarten, Sydney would be "running and jumping right alongside her peers." I left the office, in tears again, not knowing what the future would hold for us. I couldn't really grasp what this condition meant for my daughter and our family. I only knew that this wasn't supposed to happen to us. I couldn't shake the feeling that there was something "wrong" with Sydney, and I grieved for that joyous experience of childbirth that we see so often in the movies. My husband and I were robbed of those tender moments, those loving glances at each other while our child lay peacefully between us. Instead they were filled with anxiety and unanswered questions.
Bottle feeding continued to be a challenge, and solid food was even worse. The choking and gagging continued, and she slept in our room for the first year of her life. She had reflux, and she would frequently vomit. We feared that if she was alone that she might not be able to recover on her own. She developed normally for the most part, just slightly delayed. She rolled over around 6 months, began to crawl at 10 months, and was walking by 17 months old. The only thing we waited quite a while for was her first word. Lucky for me, it was "mama". At 3 1/2 years old, we are still waiting for her second word.
During her first few years we have seen her blossom into a beautiful, happy little girl who loves to play with her ipad and eat macaroni and cheese. She loves music, and sways back and forth emphatically, especially to the opening song of Phineas and Ferb. Most of all she loves to chase her little brother around the house. We don't know what her long term prognosis for speech is, but we are learning to communicate via her AAC device. The bond I now feel with my daughter didn't happen overnight. I knew that I loved her, and I knew I would do anything for her, but it took some for me to come to terms with her diagnosis. It did happen though. She is one-of-a-kind, and I can't imagine our lives without her. There was a time when I was fearful of the future. Now I can't wait to see what happens.