We didn’t have a lot of hope that she would survive
Mom: When I was pregnant with her, they had found that she had a two vessel cord and then that there was an issue with her bowel. They thought it was duodenal atresia, but they weren’t really sure about her bowel defect, how it would be, until after she was born. She was 31 ½ weeks, and at 24 hours old they did surgery and found that she had jejunal atresia and then multiple atresias after that. She lost all but 7 or 8 centimeters of her small bowel, so she was very short gut. That was devastating.

Dad: Yeah, it was. When the surgeons walked in the room, by the time we were done talking, we didn’t have a lot of hope that she was going to survive for a long period of time.

Mom: They said, “She probably won’t survive till a year.” And I actually don’t know that they even expected her to make it out of the NICU, to be honest. And our home hospital didn’t offer small bowel transplant. They knew about it, and they said, “There is the small bowel transplant…but the fact that she’s so little, and even waiting until she’s a year old, they usually don’t have many donors at such a small size…” So her chances of getting a small bowel transplant before her liver would fail completely would be the problem, and that was very unlikely.

Dad: So we basically thought we were going to be spending as much time with her as we could before she wouldn’t be here anymore.

Parents of Sophia, 4

 

Mitochondrial disease
Mom: She had issues from the very beginning, because she had a lot of trouble eating. So we knew that there was something amiss. So right from birth we were trying to figure out why she wouldn’t eat and wouldn’t nurse. By the time she was one, she had her first really long hospitalization. She was failure to thrive and she had a lot of problems really exclusively with eating, that she would have pain when she ate. We went through multiple diagnoses, and she had a central line for the first time with artificial nutrition: it’s called TPN, total parenteral nutrition, starting when she was 10 months old. And by the time she was 18 months old, we had come to Boston and we had met with one of the world specialists in mitochondrial disease and had a clinical diagnosis of mito. Unfortunately a clinical diagnosis needs to be confirmed with a muscle biopsy, which is a really invasive test. So she was sick enough for long enough that we kept putting it off, because no one wanted to make her sicker. She finally had a muscle biopsy when she was three, and that did confirm mitochondrial disease. So she was TPN-dependent from the time she was one until her transplant.

[Later] The best way to think of mito is really that it’s just a global energy defect. So if you don’t have enough energy….

Meg: My mom explains it as a city thing.

Mom: Yep, like a city power plant! And with some people, when their power plant goes offline, it just is like a brownout, and some people it becomes like a blackout. And some organs can do just fine, some parts of the city can be just fine and other parts can’t. And unfortunately for Meg, it was really her abdominal organs. So her transplant was her stomach, her intestines, her liver, her spleen and her pancreas.

Meg, 9, and mother