Our daughter’s journey as a fighter started at my 20 week checkup when she 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 OBGYN 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 weighed 5lbs, 5oz and was 18.5 inches. She was the most beautiful baby I’d 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 pediatric appointments. At about five months her cardiologist thought her head was too small and her ear sat too low. To us she looked perfect and still does, 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 . We were lost, not knowing where her deletions were, what they caused and what the extra one would mean. She is the only one we know of in her medical circle with these unique deletions. The mutations 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 therapists and nutritionists. To help us better understand the way she functions. At nine months, Naylah went through her first surgery. She had a VSD repaired that was causing too much blood flow and was also diagnosed with tachycardia were she has episodes of SV T( 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 after we’d settled her on a medication called Amiodarone to help control her heart rate. New hopes came in thinking she would finally start sleeping trough the night and have more energy for others activities. It helped, but the heart wasn’t the issue so we question her genetic disorder. We always see things this way if it’s not the heart, it’s the trisomy 5q.