Alone (Detective D.D. Warren, #1)(91)

Dr. Iorfino took the black leather seat behind the desk, then indicated the two empty chairs across from him.

“Catherine Gagnon,” Catherine introduced herself, holding out her hand.

“Ah yes.” The doctor shook her hand belatedly, then turned to Bobby curiously.

“Bobby Dodge,” Bobby provided. “Friend of the family.”

“Interesting,” the doctor murmured.

Bobby shrugged. He wasn't as convinced that it was interesting to be a friend of the family, but the doctor was already flipping open the manila file.

“I'm pleased you could meet with me,” Dr. Iorfino said. “I felt it was important that I share my findings with you before I saw Nathan.”

“Findings?” Catherine looked confused. “How can there be any findings? You haven't seen Nathan yet.”

Dr. Iorfino blinked owlishly. “Dr. Rocco didn't tell you?”

“Tell me what?”

“When he approached me about Nathan's case, he sent me the boy's whole medical history, as well as blood and urine samples. So I could begin testing our theory.”

“Theory? What theory?” Now Catherine sounded nearly panicked.

Bobby leaned forward. “Mrs. Gagnon's been through a lot the past few days, Doctor. Maybe you should start at the beginning.”

“Well, yes. I suppose. That horrible business with Dr. Rocco, of course. Oh well, and yes, Mrs. Gagnon's own husband. Quite right.” Dr. Iorfino shuffled the papers inside the file, cleared his throat. “Dr. Rocco contacted me several months ago regarding Nathan. Did he mention that, Mrs. Gagnon?”

“No.”

“Hmm. I see. Well, given Nathan's symptoms—first the fever, vomiting, growth failure, retarded development of motor skills, now the obvious hepatic glyconeogenesis, galactose intolerance, and medically resistant hypophosphatemia—he began to suspect a particular syndrome. So he asked me to perform an in-depth analysis of Nathan's chromosomes.”

“Glyconeogenesis,” Catherine repeated awkwardly. “Galactose intolerance? I don't know what those are.”

“Dr. Rocco has been treating Nathan as if he's had food allergies, correct? Asking you to substitute soy products for dairy, following a diabetes-mellitus-like diet of small meals with low sugar/carbohydrate intake?”

“He thought Nathan might be allergic to milk. And his blood sugar levels are too high, so he's been on a low-carb, high-protein diet.”

“Correct, that's what the records indicate. However, as you can attest, even after a year of this regimen Nathan has failed to make significant progress. Tests show increased levels of glucose in the body, which in turn is leading to the accumulation of glycogen in the liver, pancreas, and kidneys—”

“He's not improving,” Catherine agreed.

“Mrs. Gagnon, Nathan doesn't have food allergies. He does, however, have a mutation in the GLUT2 gene. In short, he suffers from a rare but well-defined clinical entity known as Fanconi-Bickel syndrome.”

Catherine expelled a short breath. “You know what's wrong with him?” You know what's wrong with my son?”

“Yes. Basically, due to a genetic defect, your son does not correctly metabolize glucose and galactose—”

“Galactose?”

“The sugars in milk. Pulling Nathan off dairy products certainly helped, but the fact remains too much sugar is being built up in the filters of his kidneys, leading to a host of problems, including, if we don't start proper treatment, kidney disease.”

“There's a proper treatment? You can fix it, this Fanconi-Bickel?” Catherine's eyes were growing bright, nearly feverish.

“There is no cure for Fanconi-Bickel, Mrs. Gagnon,” Dr. Iorfino said patiently. “But now that we have a diagnosis, we can start an appropriate regimen that will mitigate many of the complications Nathan is experiencing. And with proper treatment and diet, your son can lead a fairly normal life.”

“Oh my God,” Catherine said. “Oh my God.” She put a hand over her mouth. She eyed the doctor wildly, then stared at Bobby, and then in a rush of emotions burst into tears. “He's going to be okay. Finally, finally, after all these years . . .”

“Thank you,” she sobbed to Dr. Iorfino. “After all the tests, all the wondering and doubt . . . you have no idea how good it is to finally know what's going on.”

Dr. Iorfino actually blushed. “Well, you don't have to thank me, per se. It's Dr. Rocco who put the pieces together. Fine bit of analysis, I must say. Fanconi-Bickel is very rare, and hardly ever seen around these parts.”

“A genetic disorder,” Catherine murmured, belatedly wiping at her eyes. “Random bad luck. Who would've thought?”

But Dr. Iorfino was frowning now. “Fanconi-Bickel isn't exactly random, Mrs. Gagnon. It's an inherited defect, mostly seen in males.” Matter-of-factly, he stated: “It's what you find in families with a history of incest.”





F OR A MOMENT, Catherine didn't speak. She appeared too stunned to react to the news. In contrast, for Bobby, the pieces were finally coming together.

“But Jimmy and I weren't related,” Catherine protested. “My family is from Massachusetts; his family is from Georgia. We knew our parents, there is no way—”