by D. J. Palmer
“The neonatal nurse told me that Roger seemed perfectly fine whenever he was awake, but he would tire easily and fall asleep,” Zach explained to Baby Sperling’s worried parents as they awaited his final verdict.
The mother nodded anxiously, biting at her lip, her body tense as if in anticipation of a coming car crash. Instinct must have told her that in another minute, she’d have confirmation their lives would never be the same.
“The nurse told me when he falls asleep, he begins to turn blue, which is why I ordered a special genetic test.”
Zach had exceptional recall, and when the NICU nurse discussed the timing of Baby Sperling’s breathing troubles, he remembered one of his index cards detailing symptoms from a genetic mutation in the PHOX2B gene.
“I’m sorry to say that Roger has what we call congenital central hypoventilation syndrome.”
The parents’ faces were blank. They’d never heard of the condition; no specialist had mentioned it as a possibility. Zach gave them the background.
“CCHS is extremely rare. Only had a handful of cases at White since I’ve been in practice,” Zach said. “In these cases, the brain stem center that controls respiration fails to develop. Affected babies don’t respond to rising carbon dioxide in the blood, which normally triggers breathing by acting on the brain stem respiratory center.”
Zach decided to hold off on mentioning the disease’s former name: Ondine’s curse, which sounded even more ominous, though it was named with good reason. In German mythology, Ondine was a nymph, a water goddess, who fell in love with a mortal. The mortal swore that his every breath was a demonstration of his love, but as is so often the case, he proved unfaithful. Ondine punished him by making him remember all his breaths. He was fine so long as he remained awake, but when he fell asleep, he stopped breathing and died.
Baby Sperling had the same problem. When he was awake, his brain remembered to breathe; when he slept, it did not. He would need a ventilator every time he fell asleep, and the condition was permanent; not something he’d outgrow. But the good news, which Zach shared with the shattered parents, was that Baby Sperling would be fine so long as he was awake. He’d require a tracheotomy, of course, and arrangements would need to be made for him to have a ventilator at home, as well as a backup generator. He’d need psychological counseling and social support, speech and respiratory therapy, home health visits and such. Despite his tremendous obstacles, Baby Roger would get to live a relatively normal life during all his wakeful hours. Zach made sure he emphasized that last point to the parents.
After he completed his morning rounds, Zach was ready to call Becky Gerard. Along with the lab results for Baby Sperling, Zach had in his possession the results from Meghan Gerard’s blood work and genetic testing.
The results were inconclusive.
He did not feel compelled to explain to Dr. Sayre or any of the interns the complexities of proving a case of mitochondrial disease. It was notoriously difficult, which was why the hospital CEO, Knox Singer, was beginning to tire of the number of mito cases Zach had been diagnosing of late. Every new case meant more expensive tests and treatments and new battles with insurance companies for the patient and the hospital.
“Are you sure about this case?… Are you sure about that one?… Are you sure?… Are you sure?” That had become Knox Singer’s ongoing refrain. But Zach was sure about Meghan Gerard, just as he was about all the cases he had diagnosed over the years, because he knew the symptoms better than anyone. He had lived with those symptoms, and he had watched Will die with them.
Despite the whispers of confirmation bias that were chorusing into shouts, Zach did not particularly care what the administration thought of his penchant for diagnosing new cases of the disease.
He knew mito when he saw it.
Zach retreated to his small windowless office on the pediatrics floor, where his desk lay hidden underneath mountains of journals and research papers devoted to understanding and curing mitochondrial disease. He paused to ask himself: Am I really doing this again?
Zach pushed his doubts aside and made the call.
CHAPTER 10
BECKY
Becky was in the kitchen, waiting for her world to turn upside down. She hid her real tears among those she cried while dicing onions for the special dinner she was cooking Meghan, who had a new diet to go along with her new disease. Two weeks had passed since Dr. Zachary Fisher had diagnosed Meghan with a mitochondrial disorder, and in that short time, Becky had become something of an expert on the condition. With the help of a dietician at White, Becky had devised a menu for Meghan, one that would hopefully get her body to change food into energy.
Becky now kept a detailed log of everything Meghan ate, with all portions carefully weighed and measured. The number of calories taken in, too many or too few, could be a problem. Meghan’s protein intake increased dramatically, and a complex carbohydrate was included with every meal. Meghan went from rarely eating to having four to six small meals every day, including the homemade chicken soup that had been her staple for the past few years.
In addition to the dietary changes, Meghan had begun taking what Dr. Fisher referred to as a mito cocktail. The mito cocktail was a combination of fifteen different vitamins and supplements that a compounding pharmacist combined into a bitter-tasting liquid and then flavored with mint to improve palatability.
“We’ll be able to assess her after a few months to determine if her symptoms are lessening to some degree,” Dr. Fisher had said. “That’ll tell us as much as any biopsy could, if not more.”
Becky had reason to be hopeful. Many forms of the disease were shown to be responsive to the high-dose vitamin and supplement therapy. Even better, because of Dr. Fisher’s renown with treating mitochondrial disease, Meghan had been placed on a waiting list to receive an experimental medication called Elamvia, which Becky understood to be a peptide agent that helped stabilize the mitochondria, essentially allowing the cells to recharge. The drug showed promise in late-stage clinical trials. For now, as Dr. Fisher emphasized, the goal of Meghan’s treatment was to slow the disease progression because there was no known cure.
No. Known. Cure.
Becky retrieved the mito cocktail from the fridge and poured the correct dosage into a glass. The cost of the drink Dr. Fisher had prescribed came in at around $2,500 a month, close to what they paid for their mortgage. Thankfully they had only a small co-pay to worry about. Money was getting tighter, due to a slowdown in the building market. Becky would give up her gym membership in a heartbeat if she had to, even though those two hours she spent working out—on the days Meghan actually made it to school—were her only respite. The rest of her time was spent providing care, doing research, and worrying.
Dr. Fisher had warned that insurance companies were aggressive in pushing back on mito payouts, especially with inconclusive labs like Meghan’s. It could mean that Meghan would have to be subjected to far more invasive procedures should their insurance company start to balk at the bill.
Becky blamed herself for Meghan’s meltdown in Dr. Fisher’s exam room. If she had known the size of the needle, if she had had any inkling whatsoever, she could have given him fair warning. It was a minor miracle Dr. Fisher had convinced Meghan to let him take a cotton swab to the inside of her mouth to acquire the genetic sample. For the blood work, Becky had to employ guided meditation techniques she had learned online to help Meghan deal with the pinprick sensation needed to get samples.
Since the diagnosis, Becky had watched Meghan like a hawk, observing her every movement, down to the twitch of an eyelash, because she feared her daughter’s symptoms would worsen any day. Her research had confirmed Dr. Fisher’s dire warning that neurodegenerative diseases were notoriously unpredictable—that a decline could take days, months, or years—hence her vigilance. For Meghan, for the whole family, living with mito meant living every minute waiting for that other shoe to drop.
As was her routine, Becky had also done due diligenc
e on this new doctor. It was far from her usual deep dive, that could come later, but she did gather basic facts from the internet. The most revealing discovery had come when Dr. Fisher shared the story of his tragic past, the death of his son from the disease he had devoted his life to curing. Her heart broke for him, for what he had endured, because the pain of a losing a child, no matter the age or circumstance, was familiar to her on the most personal, primal, and visceral of levels.
Nothing Becky found out in her quest for answers brought her much comfort, but as expected, the new diagnosis elicited a fresh rush of attention and outpouring of support. She took in every good wish, every hug from a concerned neighbor—Holly included, despite the distance that had come between them—every cooked meal, every phone call, and used them to fill the empty part of her soul that her mother had cratered out. Maybe if Holly still had a sick child, they would have stayed close friends. Becky understood the distance between them was her fault. It was shameful to admit, petty as can be, but it hurt to be around Holly because Becky wanted so desperately to have what she had—a healthy child.
Her Facebook group was full of the sick and struggling, and it was there Becky sought solace. Veronica Del Mar and other online friends helped her ascend the mito learning curve quickly. Though Becky found most of what they shared distressing, she had come to depend on her virtual support network to get her through the day. She felt off-kilter without their messages and regular information dumps.
After finishing dinner prep, Becky decided to FaceTime with Veronica. No one else could understand or relate to her struggles the way Veronica could.
When Veronica’s face appeared in the FaceTime window, it looked to Becky as though she’d been expecting to video chat. Her hair, a shade of blond that came only from a box, was styled, full of body, and slightly feathered in a wink to the 1970s. Dark mascara called attention to her blue eyes, and makeup had turned Veronica’s sun-kissed skin the reddish hue of Martian rock. A pair of dazzling silver earrings hung low and tinkled like wind chimes every time she moved her head.
Off in the background, Becky could see a pair of tall green plants bracketing a pass-through door into a galley kitchen, as well as a maroon tile floor that kept the apartment cool in Florida’s blistering heat.
“Becky, sweetheart, I was just thinking of you.” Becky smiled, knowing Veronica would say that even if a man had just climbed off her. “How’s Meghan doing? I’ve been thinking of her and you tons.”
“She’s doing okay,” Becky said. “Sleeping a lot, probably too much, but I don’t know what else to do.”
“What about you-know-who?”
The “you-know-who,” of course, meant Carl. To Becky’s surprise and great relief, he’d been a better husband since the diagnosis. He was more attentive; a real presence around the house, for a change. He’d started looking her in the eyes when they spoke. On occasion, he’d offer to rub her shoulders, or snuggle in bed without asking for favors in return.
“Same thing happened with Don and me when a doctor thought Ashley had celiac disease,” Veronica said glumly. “Suddenly, I wasn’t Mrs. Crazy. In a day, I went from being obsessive and manipulative to brilliant, dogged, and determined. He got on board with the treatment plan, became Mr. Wonderful for all of three months, and then slipped right back into old habits when the diagnosis didn’t stick, denying anything was ever wrong, blaming me for perpetuating the drama.”
Becky tried not to let her annoyance show. She had so few good days that any moment there was cause to celebrate needed to be cherished, not squashed. Carl’s active role had done wonders for Becky’s mood, and nobody—not Veronica, not anybody—was going to bring her down.
“How is Ashley doing?” Becky asked, looking for a change of subject.
“Nothing new to report,” Veronica announced with a sigh. “We’re going to try this homeopathic healer in New Mexico my friend swears by, but I don’t know. It seems a bit nutty to think some shaman across the country could heal Ashley remotely when so many doctors around here haven’t done diddly.”
“Desperate times,” said Becky, reciting a refrain familiar to members of her Facebook group.
They talked at length about Ashley’s ongoing stomach cramps, her evident weight loss, and Don’s unconscionable lack of compassion for his daughter’s plight. Becky suggested Ashley get tested for mito because the disease was nimble enough to fit most any symptom. It was a better plan than some damn fool shaman, and she felt on friendly-enough terms with Veronica to share that exact thought.
“Maybe you’re right,” Veronica said, sipping clear liquid from a glass tumbler that probably contained more parts vodka than tonic.
Before they could say anything more, Meghan appeared in the doorway. “Mom, I don’t feel well,” she announced weakly.
Becky swiveled in her chair to focus on Meghan, who looked pale and sweaty. She clutched at her stomach in evident pain, nearly doubled over, shaky on her feet. Meghan’s eyes blinked rapidly as though they were trying to adjust to a sudden bright light.
Becky bolted from her chair to go to her daughter’s side. “Sweetheart, what’s wrong?” she asked, gripping Meghan’s bony shoulders.
“I feel sick,” Meghan said.
Oh God, no, thought Becky. This was it—the fast decline she most feared.
“Carl!” Becky cried out, her voice drenched in panic. “Carl! Come quick!” He could be anywhere in the house, but Becky was not going to leave Meghan’s side to hunt him down. She sent Carl a text. Meghan slumped to the floor, and Becky went down with her.
“I feel wicked nauseous,” Meghan said in a weak and raspy voice. Becky checked her daughter over, looking in her eyes. A steely bolt of fear struck her hard. “Carl!” Becky cried out again, but by that point, he was already in the room.
“Call 911,” Becky heard Veronica say.
“What’s going on?” Carl’s tone was more annoyed than worried. He hated being interrupted, especially if he was doing something—either in his office, or working on his mountain bike down in his man cave.
“It’s Meghan. She’s sick.”
Carl knelt down beside his daughter. “Honey, what’s wrong?”
Meghan went through her symptoms.
“Get an ambulance!” Veronica cried out.
Carl glanced at the computer, looking mildly miffed. “What were you doing when it happened?” he asked.
“Nothing,” Meghan said. “I was in my room, texting some friends.”
Like Becky, Meghan’s world was mostly confined to what she could do online.
Carl felt Meghan’s forehead. Becky knew her skin would feel cool to the touch, and she anticipated Carl would interpret that to mean no alarm was needed.
“Maybe just lie down for a little, see if it passes.”
Becky glared at Carl. “She needs a doctor.”
“Call 911,” Veronica repeated.
Carl rose, stormed over to the computer, and bent down to give Veronica a clear look at his angry face. “This isn’t your business, Veronica,” he said, his top lip curving into a snarl. With a click, he closed down the FaceTime application.
While Carl’s rudeness appalled Becky, she was not about to confront him. Meghan was in distress, and Veronica was right to consider an emergency response.
“Let’s call the ambulance,” Becky said with urgency.
Carl huffed. “She has a stomachache. I wouldn’t call this a medical emergency.”
Becky again touched Meghan’s forehead. Maybe she felt a bit clammy, but certainly not hot.
Carl knelt at Meghan’s side, his eyes brimming with sympathy. “Sweetheart, do you feel like you can go to your room, lie down for a bit?”
Becky’s eyes flared. How dare he!
Meghan’s nod was near imperceptible. “I think so.” She stood shakily, clutching at her stomach, blinking to clear her vision.
Becky went for her phone.
Holding on to Meghan’s arm, Carl noticed Becky with the phone to
her ear. “Who are you calling?”
“I’m calling an ambulance if you’re not going to drive us to the damn hospital.”
Carl made a frustrated sound. “Good God, Becky, are you out of your mind?”
“Are you out of yours?” Becky snapped, eyeing Meghan, who swayed on her feet like a sapling bending in the wind. “Does she look right to you?”
Veronica had warned her this would happen, that his support would eventually waver, but she did not think it would happen so soon.
Their eyes met like it was a high noon showdown. Becky said nothing.
“Hang up,” Carl eventually said after a few uncomfortable beats of silence. “I’ll drive everyone to the hospital. At least I won’t have to listen to you fight with the insurance company about the ambulance ride.”
Relief washed through Becky as she took hold of her daughter’s frail arm. She could feel the bone against the pads of her fingers and wondered how much more Meghan could endure.
“Let’s get you downstairs, sweetheart. Can you drink water?”
Meghan nodded as though needing that drink desperately.
“Your face looks blurry,” Meghan said as she clutched at her stomach. She sounded on the verge of tears.
Becky glared at Carl as if to say How could you?
Carl fell into step behind Becky and Meghan as they descended the stairs. She knew it would be a silent car ride to the hospital, but this conversation was far from over.
CHAPTER 11
Luckily, Becky did not need a lot of background intelligence on Dr. Zach Fisher to convince him to come to the hospital when she called. He came without hesitation, and she and Carl were with Dr. Fisher in the curtained exam bay when he checked Meghan’s vitals, looked into her eyes, did everything that did not involve needles. (This time, Meghan would not allow it.) Everything appeared perfectly normal.