Introduction to Rebekah

      Hi! Thank you for coming to check up on Rebekah. First, I want to give some background on our family and then on Rebekah and why I am blogging about her. My name is Amber. I am currently working on my Master of Divinity degree from an awesome seminary. I quit working when the doctor put me on bed rest and, after Rebekah was born, I decided, with the help of her doctors, that staying at home, except to go to class, was what was best for Rebekah. I also have an eight year old daughter named Niya. She is very bright and loves her family very much.

    When I was 17 weeks pregnant, we had the general anatomy ultrasound. During the ultrasound, the sonographer said, "Oh no, that's not good." When I asked what  she was talking about, she at first said she had not said anything and then told me that I would have to wait until the doctor could talk to me in a couple of days. I waited and the doctor told me that they couldn't find her aortic valve so I needed another ultrasound in 4-6 weeks. Since we were moving to another city, I set the appointment for 4 weeks out. At that ultrasound, they still couldn't find it, so I had another one where they still had trouble, though  now they were also talking about the dilated kidneys. The kidneys, paired with a bright spot in the heart, are markers for Downs Syndrome, a diagnosis I would have been fine with since I have worked with many special needs children in the school system. However, when they referred me to a place for a level 2 ultrasound, I was told by the cardiologist there that he did not think she had Downs, however she did have what is known as coarctation of the aorta and a small left side of the heart. When present in females, this usually means Turner's Syndrome, another diagnosis that I would have been fine with since it has almost no immediate side effects except for the heart defects. That was when I was 28 weeks pregnant. At 33 weeks, I went into preterm labor and it was stopped, I was given steroid shots for her lungs, and then I was put on full bed rest. At 36 weeks, I saw the cardiologist again and he confirmed his original diagnosis and I was told that she would probably have to have surgery at 2-4 days old. At 37 weeks, she failed a non-stress test because her heart rate had no  variability. They watched me for a few hours and sent me home. 2 days later, the non-stress test not only showed no positive variability, but showed decelerations. They sent me to the hospital and I was induced. She was born at 5:07am on December 14, 2012 weighing 5 lb 14.5 oz. She could breath on her own, but was immediately taken by the NICU team and transferred to Brenners Children Hospital to the PICU (where they send cardiac surgery candidates). Her first echo revealed multiple heart defects including mild hypoplastic left heart structures: mild hypoplastic aortic valve annulus, low normal transverse arch, mild hypoplastic mitral valve, moderate atrial septal defect, moderate left to right atrial shunt, large PDA, mildly decreased left ventricle apex, multiple small mid to apical muscular VSD's with bidirectional bloodflow, dilated right ventricle, moderate LPA branch stenosis, and dysplastic pulmonic valve with significant restricted mobility and moderate to high stenosis. Over the next few days routine and other tests were run which revealed that she had a cleft palate involving the hard and soft palate, a pseudocleft lip (it would have been cleft, but it closed in utero leaving a birth mark, low set ears, slightly wide spaced eyes, brachial cleft cysts (these were mentioned by us later on because they were draining), hydronephrosis (severe on left and mild on right), grade IV kidney reflux, anomalies of the optic nerves, severe "regular" reflux, "comfortable" tachypnea (where the fluid on her lungs causes her to breath much faster than normal), and an anterior anus with poor sphincter tone. We found out, when we could start feeding her, that she had an underdeveloped epiglottis that caused her to aspirate about a quarter of everything she ate, so no breast feeding and all expressed breast milk had to be given through an NG tube. The geneticist saw her and told us she thought Rebekah had Wolf-Hirschorn Syndrome which has a low life expectancy. The blood work came back the next day and showed that she has partial Trisomy 15 which is where, in her case, the genes on the 15th chromosome from the q arm at 15.1-26.3(qter) were added to the p arm of her 15th chromosome so that she has 3 copies of 532 genes from the 15th chromosome. What did this tell us? Nothing, because it had never been seen before. There are no recorded cases, anywhere, of her exact duplication. They did parental blood work tests which revealed that I have a very rare translocation of my 15 and 19 chromosomes. However, further testing revealed that my difference and her difference do not seem to be connected, so they are currently doing more testing because it is too big of a coincidence that we both have differences in the 15th chromosome. She was transferred to the NICU at 2 days old because she would not be having heart surgery yet. She spent 46 days in the NICU and came home with a g tube because, even though she learned to compensate and protect her airway, she would get so tired trying to eat and protect her airway that she could not possibly get enough calories eating orally. The journey through the NICU was long. I brought her home on January 29th, 2013. :)

Just born

first time the sisters met

Bath time

After her g tube surgery, she was intibated

All dressed up

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