Lisa Gardner - Alone

"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. lorfino 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. lorfino 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. lorfino 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 gluconeogenesis, 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."

"Gluconeogenesis," 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. lorfino 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. lorfino.

"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. lorfino 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. lorfino 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."

For 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-" "It's not you," Bobby said.

She turned to him, still confused.

"But who?"

"The Gagnons. The judge and his wife. It's why they left Georgia. It's why she doesn't exist-because, of course, they had to give her a new name. And probably why there is no marriage license-they never would've passed the blood test."

He turned to Dr. lorfino.

"Can genetic defects skip a generation?"

"Absolutely."

"And can two interrelated parties still have a healthy child? Or would the children have to have the defect?"

"No, there could be healthy offspring. Think of the royal families of Europe in centuries past. Many of them married first cousins, and still had relatively healthy offspring. But inbreeding weakens the gene pool. Sooner or later…"

"So James and Maryanne get together. Say they're first cousins." Bobby frowned, glanced at Catherine.

"Harris said Maryanne's family died before the wedding. What about James's family? Have you ever heard talk of other relatives? Grandparents, aunts, uncles, anyone?"

"No, Jimmy said his parents came from small families. There was no one left alive."

"So James and Maryanne meet. God knows her family couldn't have been wild about the idea, but then they died. Problem solved. James and Maryanne move up here, start fresh with a new name for Maryanne, new past for both of them. Have a son."

"Jimmy's older brother," Catherine whispered.

"The one who died young."

"Maybe Nathan isn't the first Gagnon male to show signs of Fanconi-Bickel. Harris said James Junior was a sickly baby." "Fanconi-Bickel varies in its severity," Dr. lorfino provided.

"In a very severe case-" "But Jimmy didn't have signs of any… disorders," Catherine protested.

"Again, inbreeding doesn't guarantee genetic disaster, Mrs.

Gagnon, it just makes it more probable."

"A ticking time bomb," Bobby said quietly.

"Oh my God, poor Nathan…" And then, Bobby could tell she had reached the same conclusion he had, because her eyes suddenly widened with a fresh look of horror. She turned toward him.

"But if Nathan has this syndrome… if others find out that Nathan has this syndrome, then…"

He nodded grimly.

"Yeah. This is why the judge is so determined to get custody. Whoever has Nathan has the key to unlocking the Gagnons' deepest, darkest secret. And that's something worth killing for."

He walked out of Dr. lorfino's office to the lobby, Bobby's cell rang. He grimaced, but Catherine merely pushed him toward one corner of the lobby.

"I need to call my father, anyway," she said.

"I'll tell him we're ready for him to bring Nathan."

Bobby nodded, giving Catherine some space as he flipped open his phone.-It was D.D. She sounded strange.

"Where are you? I've been trying to reach you all morning."