Chapter 47 The Expedited Result
Damian did not wait for a convenient hour. He called Dr. Harris immediately. The phone rang four times before she answered.
"I'm sorry to call so late," he said.
"I told you to call no matter the hour." Dr. Harris's voice was alert, fully awake. "I have the preliminary results for the GNB2 variant."
I pressed closer to Damian, my ear near the phone.
"The test is positive," she continued. "Rose carries the GNB2 variant. So do Lily and Max."
Damian's hand tightened on the phone. "What about Leo?"
"Leo is negative. He does not have this marker."
I exhaled. One child spared. "What does this variant do?"
Dr. Harris explained. "GNB2 affects how nerve signals are transmitted. In combination with the other mutations, it can cause a more complex form of dysautonomia. We're talking about significant challenges with heart rate regulation, blood pressure stability, and temperature control."
Damian stood up and walked to the window. "How significant?"
"Rose may need a wheelchair for long distances. Lily may struggle with exercise intolerance. Max may have episodes of fainting. But every child is different. We'll need to monitor them closely and adjust treatments as we go."
I pulled a blanket around my shoulders. The house felt cold despite the warm night.
"What's the treatment?" I asked.
"A multidisciplinary approach. Cardiology for the heart rate issues. Neurology for the nerve signals. Physical therapy for muscle strength. And medication to stabilize blood pressure."
Damian returned to the couch. "How many medications?"
"We'll start with one and add as needed. I've already spoken to a pediatric cardiologist. She can see the children next week."
I wrote down the name. Dr. Park. Another specialist. Another appointment.
We hung up at midnight. Damian stared at the wall.
"Leo is negative," he said. "That's something."
"It's a lot."
"But the other three have it."
I took his hand. "And we'll help them. Just like we've helped them with everything else."
He pulled me close. "I know. I'm just tired of being the one who gave them this."
"You didn't give them anything. You gave them life. The rest is genetics."
The next morning, we told the children.
We gathered in the living room after breakfast. Leo sat on the couch, already sensing he was different. Lily and Max sat on the floor with Waffle. Rose stood by the window.
Damian knelt in the center. "The new test results are back. Leo, you don't have the gene we were looking for. You're clear."
Leo exhaled. "So I'm okay?"
"Your blood is okay. You're more than okay."
Leo smiled, small but real.
Damian turned to the others. "Lily, Rose, and Max, you do have this gene. It affects how your nerves talk to your body. It might make your hearts beat faster or your blood pressure drop when you stand up."
Max frowned. "Like when I get dizzy?"
"Exactly like that. Now we know why."
Lily hugged her stuffed rabbit. "Will it hurt?"
"We're going to see doctors who will help you feel better. You might need medicine, but you won't be in pain."
Rose spoke from the window. "So we have another thing."
"Yes."
She turned around. "Then we deal with it."
The cardiology appointment was set for Thursday. Dr. Park had kind eyes and a stethoscope with cartoon animals. She listened to each child's heart, checked their pulses, and ordered a tilt table test for Rose and Lily.
Max's symptoms were milder, she said. He might not need medication.
"Rose and Lily have more significant POTS," Dr. Park explained. "I'm starting them on a low dose of a medication called fludrocortisone. It helps the body retain salt and water, which stabilizes blood pressure."
Lily looked at the tiny pill. "Will it make me feel better?"
"It should help with the dizziness and fatigue."
Rose took her pill without comment. Lily swallowed hers with applesauce.
The first week on medication was rough. Rose felt nauseous. Lily complained of headaches. Dr. Park adjusted the doses, split them into morning and evening.
By the tenth day, the side effects faded. Rose could stand up without seeing stars. Lily made it through a full day of school without needing to lie down.
Max watched his sisters improve. "When do I get medicine?"
"You might not need it," Damian said.
"But I want to be like them."
Damian knelt beside him. "You're already like them. You're their brother. That's more important than medicine."
Max considered this. "Can I have extra dessert?"
Damian laughed. "Yes."
On the fifteenth day, Dr. Harris called with unexpected news.
"I've been reviewing the GNB2 research with a geneticist. There's a new study that suggests this variant can also affect growth and development in ways we hadn't anticipated."
Damian's voice was tight. "What kind of ways?"
"Delayed puberty, slower metabolism, and in some cases, learning differences. We'll need to monitor the children more closely as they get older."
I gripped the phone. "Learning differences?"
"Nothing severe. But they may need extra time on tests or help with focus. We'll work with their school to create support plans."
Damian hung up and looked at me. "More monitoring."
"More love."
He almost smiled. "That too."
That night, Rose asked to speak with me alone. We sat on her bed in the yellow room. The paper stars glowed softly.
"Mommy, am I going to be different forever?"
I took her hands. "You're already different. You're brave, smart, and kind. The medicine and the doctors are just tools to help you be the best version of yourself."
She looked at the stars. "I want to be a doctor when I grow up."
"A doctor?"
"I want to help other kids like me."
I pulled her into a hug. "You'll be a wonderful doctor."
She hugged me back. "I know."
The next morning, Damian's phone buzzed with a text from Dr. Harris.
I've been contacted by a research team studying GNB2 variants. They're offering free genetic counseling and advanced testing. They want to include your family in a new study. Please call me.