My daughter, whose nickname is the “Bean”, was born with too much genetic material. The name of her “condition” is Partial Trisomy 22. Basically, this means that she has an extra piece of her 22nd chromosome that doesn’t belong. I won’t go into a huge genetics lesson here, but I’ll give you the basics needed to understand. I don’t pretend to be an expert – this is the level at which I understand it.
Most people have two copies of each chromosome – they all come in pairs (unless you’re a boy and you have an X and a Y). My husband apparently has the right amount of genetic information, but a piece of one of his 22nd chromosomes broke off and attached itself to his 16th chromosome – this is called a Translocation. When his and my genes combined to create the Bean, she ended up with a whole 22 from me and a whole 22 from her father (because one of his was whole and the other wasn’t). But she also got the copy of my husband’s 16th chromosome that had the extra bit of 22 attached to it. With three copies of some of the genes instead of two, her system got confused and caused some problems.
The reason we found out about her genetic anomoly is that she had intra-uterine growth restriction – she wasn’t growing properly in the womb. She seemed to be healthy enough – strong heartbeat, plenty of movement, and had none of the more common conditions that they test for in the triple screen. The doctor was worried that she wasn’t growing and induced labour 6 weeks early. When that failed to yield results after a week of trying, they gave me the option of a C-section, which I accepted. I was tired of sitting in the hospital doing nothing.
After the Bean was born and they determined that nothing was wrong with the placenta, they got our permission to do some genetic tests, and came back with the news. The thing was, Trisomy 22 is so rare, and the individual cases that do exist are so varied, that they didn’t really know how it would affect her. All they knew at that point was that it was why she had stopped growing. She was born at 35.5 weeks, weighing 3lbs, 13 oz, and measuring 17 inches.
Thankfully, she started growing again right away. She was too small to nurse, and had to be fed my breast milk with an NG tube at first (a thin tube passed up her nose, down her throat, and into her stomach). Other than some wet lungs and a bout of jaundice in the first couple of days, she was healthy enough to come out of the incubator quite quickly. She still wasn’t strong enough to draw milk, so we started feeding her with a bottle, which she took to much more easily. Within three weeks, she had gained enough weight and was proficient enough at feeding to come home from the NICU.
Of course, these are just the facts, ma’am. But I wanted them to be here as background for the rest of the posts to come.