Small Great Things(111)

He’s thrilled to hear from Micah after so many years, and he’s even outwardly thrilled to host his insane lawyer wife and one very crabby four-year-old who should not have been awakened from her car seat nap. Ivan lives in Westport, Connecticut, in a sedate colonial, with his wife—a woman who managed to make homemade guacamole and salsa for us after her fifteen-mile morning marathon training run. They don’t have any kids yet, but they do have a giant Bernese mountain dog, which is currently either babysitting Violet or licking her to death.

“Look at us, bro,” Ivan says. “Married. Employed. Sober. Remember that time we dropped acid and I decided to climb a tree but forgot I’m scared of heights?”

I look at Micah. “You dropped acid?”

“You probably didn’t tell her about Sweden, either,” Ivan muses.

“Sweden?” I look between the two men.

“Cone of silence,” Ivan says. “Bro code.”

The thought of Micah—who prefers his boxer shorts ironed—as a bro makes me stifle a laugh.

“My wife’s trying her first murder case,” Micah segues smoothly, “so I apologize in advance if she asks you ten thousand questions.”

Under my breath I whisper, “I’m totally getting that whole story from you later.” Then I smile at Ivan. “I was hoping you could explain newborn screening.”

“Well, basically, it was a game changer for infant mortality. Thanks to something called tandem mass spectrometry, which is done at the state lab, we can identify a handful of congenital diseases that can be treated or managed. I’m sure your daughter had it done, and you probably were never the wiser.”

“What kinds of diseases?” I ask.

“Oh, a whole science nerd dictionary: biotinidase deficiency—that’s when the body can’t reuse and recycle enough free biotin. Congenital adrenal hyperplasia and congenital hypothyroidism, which are hormone deficiencies. Galactosemia, which prevents an infant from processing a certain sugar that’s in milk, breast milk, and formula. Hemoglobinopathies, which are problems with red blood cells. Amino acid disorders, which cause amino acids to build up in the blood or the urine; and fatty acid oxidation disorders, which keep bodies from turning fat into energy; and organic aciduria disorders, which are sort of a hybrid between the two. You’ve probably heard of some of them, like sickle cell, which affects a lot of African Americans. Or PKU,” Ivan says. “Babies who have that one can’t break down certain types of amino acids, and they build up in the blood or the urine. If you don’t know your kid has the disease, it leads to cognitive impairment and seizures. But if it’s flagged right after birth, it can be managed with a special diet and prognosis is excellent.”

I hand him the lab results. “The lab says there was an abnormality in this patient’s newborn screening.”

He flips through the first few pages. “Bingo—this kid has MCADD. You can tell by the spikes on the mass spectrometry graph here at C-six and C-eight—that’s the acylcarnitine profile.” Ivan looks up at us. “Oh, okay, yeah. English. Well, the acronym is short for medium-chain acyl-coenzyme A dehydrogenase deficiency. It’s an autosomal recessive disorder of fatty acid oxidation. Your body needs energy to do stuff—move, function, digest, even breathe. We get our fuel from food, and store it in our tissues as fatty acids until we need it. At that point, we oxidize those fatty acids to create energy for bodily functions. But a baby with a fatty acid oxidation disorder can’t do that, because he’s missing a key enzyme—in this case, MCADD. That means once his energy stores are depleted, he’s in trouble.”

“Meaning…?”

He hands me back the packet. “His blood sugar will tank, and he’ll be tired, sluggish.”

Those words trigger a flag in my mind. Davis Bauer’s low blood sugar was blamed on his mother’s gestational diabetes. But what if that wasn’t the case? “Could it cause death?”

“If it’s not diagnosed early. A lot of these kids are asymptomatic until something acts like a trigger—an infection, or an immunization, or fasting. Then, you get a rapid decline that looks an awful lot like sudden infant death syndrome—basically the baby goes into arrest.”

“Could a baby who arrests still be saved, if he has MCADD?”

“It really depends on the situation. Maybe. Maybe not.”

Maybe, I think, is an excellent word for a jury.

Ivan looks at me. “I’m guessing, if there’s a lawsuit involved, that the patient didn’t make it?”

I shake my head. “He died when he was three days old.”

“What day was the kid born?”

“Thursday. The heel stick was done on a Friday.”

“What time was it sent off to the state lab?” Ivan asks.

“I don’t know,” I admit. “Does that make a difference?”

“Yeah.” He leans back in his chair, eyeing Violet, who is now trying to ride the dog. “The lab in Connecticut is closed on Saturday and Sunday. If the screening sample was sent out from the hospital after, say, midday on Friday, it didn’t reach the lab till after the weekend.” Ivan looks at me. “Which means if this kid had been born on a Monday instead, he would have had a fighting chance.”