Our daughters journey as a fighter started at my 20 weeks checkup which she was diagnosed with coarctation of the aorta. Chances were that at birth she would be going through her first heart surgery. From then, We would go weekly to the Obygyn to make sure she was growing strong. At 37 weeks of pregnancy, they decided to induce me since she wasn't gaining weight. She was born on May 2nd 2012, Pink and full of life, surgery wasn't needed. She weighted 5lbs,5oz and 18.5 inches. Most beautiful baby I've ever seen. The coarctation was mild but we would go frequently to the cardiologist to make sure she was growing healthy. She also had a mild ASD and a VSD that we were hoping would close on its own as she was growing. Her first 9-12 months of life was just like a newborn she would eat every two hours, play shortly and go to bed. That was our daily routine along with many cardiology and pediatrics appointments. At about 5 months her cardiologist thought her head was too small and her ear sat too low. To us she looked perfect, but he suggested to take her to a geneticist to see if she had any abnormalities. A few weeks later results came in... She was diagnosed with Trisomy 5q. She has deletion within the 15p15.33 band there is a deletion of 9.133 Mb followed by a duplication of 0.710 Mb followed by a deletion of 0.119 Mb along with duplication of 5q33.2q35.3 . Being a rare genetic disorder that left us at blank. Not knowing where her deletion were, what they caused and what the extra one would do. She is the only one we know of in her medical circle with this diagnosis. Which explained her failure to thrive for nearly a year, when we thought her heart was getting her tired too quickly. Soon after that, to help her with whatever delay she may have, we started home therapy. She is being seen weekly by speech, occupational, physical therapist and nutritionist: To help us understand better the way she function. At 9 months. Naylah went through her first open heart surgery she had a VSD repair causing too much blood flow and was also diagnosed with tachycardia, where she does episodes of SVT( which brings her heart to a rate in the 240s and +). She recovered very fast from surgery but that was the scariest moment of our lives. After 15 days, we got to bring our baby back home, and was now on Amiadarone to help control her heart rate. New hopes came in thinking she would finally start sleeping trough the night and having more energy for others activities. It helped, but the heart wasn't the issue so we questioned her genetic disorder. We always see things this way; if it's not the heart it's the trisomy 5q. At 10 months she started sitting. That was a big moment of pride. At 12 months to help her gain weight (14lbs 4oz)and sleep better we went to see a gastronomist who recommended a feeding tube. So we went for it. Anything to help her out, next day out of the hospital she slept for 12 hours straight. We didn't, we were actually so use to her waking up at all times that our body got used to it. Another big step for our warrior. At 16 months she started crawling. Yes, she is behind in a lot,but every child is gifted they just unwrap their packages at different time. Our daughter is determinate, and she has been doing all the milestones needed at her own time frame. She is doing everything she is suppose to but at her own time. She might not crawl at 6 months like most kid do,take her first steps by her 1st birthday, say mama or dada and babble , eat a whole meal by mouth without having trouble with it, but the most important thing to remember is that She has an amazing team behind her and we are her biggest fan and source of support. Every new thing she does, shows us she has the willingness to do so. A friend once told me it takes a village to raise a kid. Sure enough she was right, no way we could of made so much progress without family/ friends support and all her medical team. She has a total of about 20 different specialists working with her, with us. Here are some of the characteristics of a child with trisomy 5q. Small head, plagiocephaly ,small jaw/mouth/neck,failure to thrive, developmental/ physical delay, heart disease and physical appearance which on her are unnoticeable unless you know where your ear lobs are suppose to be;) . The only case we know of is from the 1980's. Where they don't give us much detail of how the little girl on the article developed, what she accomplished and how her life growing up was like. It's very brief and very unknown. She might not have had the same loss of chromosome as our daughter. Only time will tell but we know so far;She came to win, to fight, and we are never giving up. - Mom & Dad
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