By Joel Warner
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A genetic counselor reviewed the tests and informed the Holbrooks that Jackson appeared to be exhibiting the classic signs of CHARGE syndrome, a genetic abnormality that can vary greatly in severity from one child to the next — and that had failed to show up in the genetic testing done before Jackson was born. The acronym refers to a complex of symptoms involving sight, hearing, physical development, a blockage in the passages that connect nose to throat, and, yes, heart defects.
Traci couldn't believe it. She was profoundly grateful when a sympathetic nurse chased all the yammering experts from the room. In an e-mail to friends, she wrote:
I've never felt so battered and beaten. That awful day in the CICU when they just kept coming at us with bad news, and then we had to hand him over for heart surgery, was one of the worst days of my life.But the Holbrooks had no time to brood on what this new diagnosis might mean — not with his first surgery looming. The procedure consists of placing a band around the pulmonary artery to limit the amount of blood flow to the lungs. In a heart where the "red" (oxygen-rich) and "blue" blood mix together in the same chamber, the circulation to the lungs tends to be the path of least resistance, and too much blood headed in that direction can damage vessels there, a common problem in CHD cases.
The surgery went well. After three weeks, the Holbrooks were allowed to take Jackson home. It was clear by then that several of the most disturbing possibilities raised by the CHARGE diagnosis hadn't materialized. The coloboma didn't seem to be seriously affecting his vision. He could hear out of his right ear. His parents rejoiced at every modest sign of progress.
"They told us he might be blind, he might be deaf," Chris says. "He's neither. I'm looking forward to him sitting up, not what he's going to do when he graduates Harvard."
The most serious problem appeared to be with his airways. Fed with a bottle, he seemed inclined to aspirate into his lungs. He flunked a "swallow study" and was soon put on a feeding tube, much to Traci's frustration. From an e-mail last February:
It is killing me not to be able to feed my child. It's the basic job of a mom to feed her baby, and I can't. I mean, sure, I shove food in his G tube every 3 hours, round the clock. But it's not the same, and I am struggling with it.
Yet for a few weeks, things settled into a kind of routine. An exhausting routine, certainly, with feedings and meds that had to be administered in the middle of the night, looking after Mason as well, and scrambling to get things ready for the home nurse who helped monitor the baby during the day so that Jackson's parents could keep their jobs. (Chris has private health-insurance coverage through his employer that pays for some of Jackson's care, and the Holbrooks pay additional premiums for Medicaid coverage for Jackson.) Jackson slept a great deal and seemed to be improving. It was a strangely calm and isolated time that Traci treasured all the more because she dreaded what was coming next.
This past spring, just as he turned six months, Jackson returned to Children's for his second heart surgery. This time he was undergoing a Glenn shunt, also known as a "partial Fontan" operation. The operation involves connecting the superior vena cava, which carries venous blood from the arms and head, to the pulmonary artery — essentially diverting that "blue" blood so that it flows directly to the lungs to receive oxygen rather than being pumped there from the heart. That increases the efficiency of the heart and boosts oxygen levels by reducing the amount of blue blood mixing with red in the single heart chamber. Down the line, when the child is older and stronger, a third operation (the "full Fontan") creates a similar diversion of blue blood from the lower part of the body to the lungs, completely separating the red and blue circulations, as in a normal heart.
The typical recovery period for a Glenn, as heart moms call it, is seven to ten days. Jackson's initial response was so encouraging that his parents were hoping to take him home on the eighth day. But then his oxygen levels crashed, and the doctors didn't seem to know what was wrong. They put Jackson on a ventilator. Early on a Friday morning, heart surgeon David Campbell called Traci and asked her how far away she was from Children's. Her heart sank.
It's not his heart, Campbell assured her. The incision in his sternum was infected down to the bone. They were going to have to open up his chest for the second time in two weeks and clean it out.
The next few days were agonizing. From an April 25 heart-mom e-mail: Thursday has been one hell of a roller coaster ride. We came in this morning at about 8 am, and Jackson was looking great.... By 8:30 it was clear something was very very wrong and by 9 am there were no less than 20 people in Jackson's room. His oxygen sats [saturation levels] dropped into the upper 20s and low 30s, and they were unable to bring them up.... There was talk of putting him on ECMO, which is a type of life support to allow his heart and lungs to rest and heal.