Chapter 45 The Rare Possibility
Damian set the phone down without speaking. The screen went dark. The porch felt colder.
"A rare disorder," I said. "What does that mean?"
"She didn't say. Only that she wants to test for it."
Rose's marigold seeds lay in the dark garden. Waffle stirred at our feet, sensing the shift in mood.
"Tomorrow," I said. "We'll call tomorrow."
Morning came too quickly. Damian called Dr. Harris before breakfast. I stood beside him, listening.
"The disorder is called Ehlers-Danlos syndrome," Dr. Harris explained. "It affects connective tissue. Some of the children's symptoms joint pain, easy bruising,and low bone density can be associated with certain types."
Damian gripped the counter. "Which children?"
"Rose, primarily. But Lily's joint flexibility and Max's minor growth delays also raise flags. Leo is less likely, but we should test him too."
I spoke up. "How do we test?"
"Genetic blood work. I've already sent the orders to the lab. You can go today."
We gathered the children after school. Leo asked what was happening. Max hid behind Damian's legs. Lily clutched her stuffed rabbit.
"We need to do more blood tests," Damian said. "The doctor wants to check for something called Ehlers-Danlos."
Leo frowned. "What's that?"
"Something that can cause loose joints and easy bruising. It's not dangerous, but we need to know."
Rose stepped forward. "Let's go."
She led the way to the car.
The lab was quiet. The phlebotomist recognized us. She had soft hands and a basket of stickers.
Four children. Four blood draws. Max cried. Lily held her breath. Leo looked away. Rose counted.
"Twenty-eight," she said when the last needle was out.
The phlebotomist handed out stickers. Max chose a dinosaur. Lily picked a unicorn. Leo took a rocket ship. Rose declined.
"I don't need one," she said.
I kissed her head. "Okay."
The waiting was different this time. Less frantic, more resigned. We had been here before. We knew the rhythm.
Three days passed. Then five. On the sixth day, Dr. Harris called.
"The genetic panel came back negative for the most common types of Ehlers-Danlos."
Damian exhaled. "So they don't have it?"
"Not the typical forms. But there are rarer subtypes that our panel didn't cover. I'm referring you to a specialist in connective tissue disorders."
I sat down. "Another specialist?"
"Dr. Vance at the university hospital. She's the best. I've already sent your records."
Damian wrote down the name. "When can we see her?"
"Her office will call you. Likely within a week."
Dr. Vance's office called the next day. An appointment was set for Thursday. Rose would go first. The others would follow if needed.
Rose listened to the news without expression. "Another doctor."
"Yes."
"Will they want more blood?"
"Probably."
She nodded. "Okay."
Thursday arrived. The university hospital was large, busy, and overwhelming. Rose held my hand. Damian held her other hand.
Dr. Vance was older, with silver hair and steady eyes. She examined Rose's joints, bending her fingers, her wrists, her knees.
"Very flexible," Dr. Vance said. "But within normal range for a child her age."
She ordered a specialized genetic test, one that looked for ultra-rare connective tissue variants.
"Results in four weeks," she said.
Four weeks. Another countdown.
That night, Rose asked to sleep in the yellow room with all the paper stars. I tucked her in. She held Max's dinosaur protector.
"Mommy, am I going to be sick forever?"
I smoothed her hair. "You have some things that make life harder. But you're not sick. You're you."
"Will I ever be normal?"
I thought about the word. Normal. What did it mean?
"You'll be you. And you're wonderful."
She closed her eyes. "Okay."
The four weeks stretched. The children continued their routines. School, medicine, injections, and pand lay. Rose stopped asking about the test. She read books, planted marigolds, wand atched her siblings run.
Lily asked one afternoon, "Is Rose going to die?"
I knelt beside her. "No, sweetheart. Rose is going to live a long, full life. She just needs extra help sometimes."
Lily nodded. "Can I give her my unicorn sticker?"
"Of course."
Lily ran to Rose and pressed the sticker onto her hand. Rose looked at it, then at Lily.
"Thank you."
"You're welcome."
On the last day of the fourth week, Dr. Vance called.
"The ultra-rare genetic test came back negative. Rose does not have any known connective tissue disorder."
Damian put the phone on speaker. "So what does she have?"
"She has a combination of genetic mutations that we've already identified. MTHFR, PAI-1, and a growth hormone deficiency. The bone density issues are likely related to these, not to Ehlers-Danlos."
I leaned forward. "What's the treatment?"
"Continue the calcium, vitamin D, growth hormone, and blood thinners. Repeat the bone density scan in three months. And keep monitoring her symptoms."
Damian thanked her and hung up.
We sat in silence.
"No new disorder," I said.
"No. Just the ones we already have."
I took his hand. "That's good news."
"It's not bad news."
"Then let's celebrate."
We took the children out for pizza. The restaurant was loud, crowded, and full of families. Rose ate two slices. Max built a tower with breadsticks. Leo told a long story about a spider. Lily sang a song about a cat.
Damian watched them. "They're okay."
"They're more than okay."
He put his arm around me. "We're okay."
We walked home under the stars. Waffle pulled at his leash. The children ran ahead, laughing.
Then my phone buzzed. A message from Dr. Harris.
I've been reviewing the children's charts with a geneticist from another hospital. There's a new research study on MTHFR and PAI-1 combinations. They've found a possible link to a condition called dysautonomia. Please call me.