Holiday Trilogy Special Edition

by Jamie Hill

  "So, Gillian," Dave exaggerated the name. "Are you coming home to dinner after the regatta? Lana baked a killer chocolate cake."

  She nodded appreciatively. "I could do cake. But call me Gigi, Gillian sounds ridiculous the way you say it."

  "Geege!" He nuzzled her cheek, and she shoved him away, sauntering off.

  Natalie and Alex sighed and nudged each other's shoulders. "Small steps," she murmured, and he nodded.

  His parents approached, and Susan narrowed her eyes at Gigi. "Are you going to tell us what's going on with your young lady today?"

  "Nothing to tell, Mom." Alex wrapped his arms around Natalie from behind. "Growing pains, I guess."

  "Hmm." Susan looked at Gigi suspiciously.

  Ted said, "We're going to drive across the cove and be with the team for the last couple races. Your mother always makes them cookies. We wouldn't want to disappoint the kids."

  "Cookies?" Dave piped up. "Grandma!"

  "Oh, I made some for you, too, you whiner. Walk up to the car with me to get them." She winked at Natalie as she teased her grandson.

  "You bet! Be right back," he said to Lana, and left her standing by Natalie as he slipped his arm through his grandmother's. "Your cookies are the best."

  "Grandma does bake good cookies," Natalie told Lana, and they grinned.

  "What a strapping young man you are," Susan patted Dave's arm. "Big and strong, like your brother."

  "I think Matt's stronger," Dave admitted. "All the weightlifting he did for rowing really built up his muscles. I wouldn't arm wrestle him."

  "I would!" Ted flexed his muscle, and they laughed as they walked to the car.

  * * * *

  Gigi was sociable at dinner after the regatta and complimentary to Lana about her cake. Natalie was thrilled with the normalcy of the meal, but sad to see her daughter's hardened expression return as she walked her to the door that evening. "You sure you don't want some food to take home? Or at least some cake?"

  "No, Mother." Gigi slipped into her coat and picked up her purse. "I haven't had much of an appetite lately, anyway."

  "When's your appointment with the kidney doctor?"

  Gigi rolled her eyes. "He's called a nephrologist, Mother."

  "Whatever," Natalie said. "When do you see him?"

  "Next week."

  "Do you want me to go with you? I could come up any time—"

  "For Heaven's sake, no. I certainly don't need you there."

  Natalie's heart sank. "No need to be unkind. I was simply making the offer."

  Gigi didn't respond as she reached for the knob and pulled open the wooden front door.

  "Will you at least call us after the appointment? Let us know what he says?"

  A moment's hesitation. "Sure. I can do that. Goodbye, Mother."

  "Drive carefully, Geege. We love you."

  The door closed on her words.

  * * * *

  With less than two weeks until Christmas, Natalie kept busy with baking and wrapping presents. Lana had gone home to Colorado once the semester ended, but would be returning the twenty-sixth to celebrate with Dave and his family. Natalie was secretly pleased that they'd have one more holiday alone, with just her little family. The way things were going with Dave and Lana, she and Alex suspected it might be the last holiday celebrated without the pretty blonde.

  Both boys came back home, and the house was again noisy and happy. Gigi even seemed in good spirits when they spoke on the phone. The doctor had run some tests, but it seemed like nothing major. He told Gigi he doubted he'd even have the results back before the first of the year with holiday schedules.

  Natalie was surprised to look up from the newspaper just a few days before Christmas and see Gigi burst through the front door. Her hair was askew and it was obvious she'd been crying on the way home. "Alex!" Natalie called and hurried to their daughter. "Gigi, what is it?"

  "Hey!" Alex joined them in the living room. "I didn't think you were coming home until—" He caught a glimpse of her face. "Geege, what's wrong?"

  The girl glanced around the room. "Is anybody else here?"

  Natalie shook her head. "Your brothers went bowling and out for pizza. They won't be home until later."

  "Oh my God!" Gigi lunged into her father's arms, sobbing.

  He caught her and held her for a second, then slowly opened her coat.

  Natalie watched him, realizing he was remembering the day she arrived home in tears after the rape. Her clothes had been in tatters. Fortunately, Gigi's were in perfect condition. She removed the girl's jacket and tossed it over a chair. "Come in, let's sit down."

  They led her to the sofa and sat on either side of her.

  "Dr. Arkin called me today. Not his office—him. He's the one who told me they wouldn't even have my test results back until January. Well, he got them back all right, apparently they were flagged because something was wrong. He asked me to come in at four-thirty to see him."

  Natalie's heart leapt into her throat. "What was wrong?" she and Alex said in unison.

  Gigi gasped and drew a breath, then the words came tumbling out. "He wants to do a kidney biopsy. He thinks I have something called Alport Syndrome. It causes kidney failure, deafness and blindness!" She broke down again, shoulders sagging as she cried.

  "Oh, sweetie!" Natalie rubbed Gigi's arms as Alex cradled the girl. They made eye contact over her head, and Natalie saw her own fear reflected in his eyes.

  "What else did he say?" Alex asked. "When does he want to do the biopsy?"

  "Can't be until January. He didn't say much. Gave me some literature about Alport's, but I haven't looked at it yet."

  "Did you bring it?"

  She nodded and sniffled.

  Alex squeezed Gigi's shoulders. "Dry your eyes and go get it. I'll grab my laptop and we'll see what we can pull up about this thing."

  She did as he suggested, and he went to get his computer. Natalie made tea and brought three cups out to the sofa. She read over Gigi's shoulder as Alex searched the internet for a malady they'd never heard of, but Natalie feared was about to become a huge part of their lives.

  "This says it affects men more than women," Gigi read aloud.

  "Some women never develop more symptoms than blood and protein in the urine," Natalie read. "Certain people never develop deafness or vision problems."

  "But some do." Gigi pointed to the paper.

  "Okay." Alex motioned toward his computer screen. "Alport's is caused by a mutated X chromosome. Women have two X's while men have one X and one Y. This means women have a backup…yada, yada, yada…" He skimmed the screen. "Men have only the one X, so their bodies have no healthy X to protect them. A man passes along his X to his daughter and his Y to his son, therefore, the daughter of a male Alport Syndrome sufferer will always inherit his diseased X chromosome." He made eye contact with Natalie again.

  She shivered, and sipped her hot tea.

  "This sucks!" Gigi exclaimed.

  "It doesn't sound great." Alex spoke in his calm, reassuring manner. "But I think we lucked out that you're a girl. Seems like girls aren't as affected as boys."

  Gigi shut her eyes. "I don't feel very lucky right now."

  Alex closed his computer and set it aside. "There's a ton of information on here. We can read more later. What I'd really like to do is talk to that doctor of yours. Would you mind if I called him, see if he can meet with us?"

  She glanced at him with surprise. "You want to meet with him?"

  "Of course." Alex looked at Natalie. "Don't we, Nat?"

  "Certainly. Whenever he can work us in."

  Alex nodded. "With your permission, I'll call first thing in the morning. I know it's a longshot with Christmas just a few days away, but it's worth a try. I'd rather not let this go until after the holidays. I'd like our questions answered now."

  Gigi nodded eagerly. She seemed to visibly relax, and reached for her cup of tea.

  "We're glad you came to us, Geege. No matter what, you'll
always be the most important thing in the world to your mom and me."

  She glanced at him skeptically, but didn't look at either one of them when she replied, "Easy to say, but you can't feel the same about me as you do the boys. I mean, I assume they're your kids. You and mom never gave me a straight answer about that."

  Alex reached for Gigi's hand and squeezed it. "You are all my kids. There's absolutely no difference. If anything, I'm sweeter on you because you were our first, and you're a girl. You've always been my little girl."

  Her eyes brimmed with tears as she gazed at him in wonder. "You mean that, don't you?"

  "I don't say much that I don't mean, Geege. You should know that by now."

  She sank against his shoulder, and they sat quietly for a moment.

  Natalie's heart filled with love as she gazed in awe at her amazing husband. He always knew just the right thing to say. She smiled at him as he lifted his cup and took a sip.

  "This tea isn't cutting it." Alex grimaced. "Anyone for a beer?"

  * * * *

  Alex phoned the nephrologist early the next morning. The doctor understood how concerned he and Natalie were, and agreed to meet with them late in the day. Gigi drove back to Topeka so she could put in most of a day's work. Alex and Natalie met her at the clinic at four-thirty.

  "Thanks for working us in." Alex shook hands with Dr. Arkin as the man ushered them into his office. "This came as quite a surprise to us, and we didn't relish the idea of all these questions hanging over our heads during the holidays."

  "I understand. Please, sit down. Mrs. Jameson, Gillian." He motioned to chairs.

  "Thank you." Natalie sat on one side of their daughter and left the other side for Alex. "So tell us, without running more tests, what makes you think Gillian has this Alport Syndrome?"

  "Two of the main symptoms are hematuria, which is blood in the urine, and proteinuria, which is excessive protein in the urine. Those are Gillian's only symptoms right now. Her blood pressure is a little high, another possible symptom, but at this point, I can't say that isn't caused by the stress. Doctor visits and the holidays are definitely stress producers." The young, prematurely balding man smiled, but the mirth didn't reach his eyes. He seemed tired, and possibly weary from breaking news of this kind to families.

  Alex couldn't blame him for that. As Gigi so bluntly put it the night before, this sucks. He cleared his head and tried to focus. "So a kidney biopsy will tell you for sure."

  Dr. Arkin nodded. "A biopsy is no fun, and I wouldn't put her through it if we had any medical history on the father's side. Once Alport's has been diagnosed in a family, we usually don't make everyone take all the major tests. It's pretty clear what's going on. In this case, I understand we don't have any information about the father's medical background?"

  "No, we don't," Alex said firmly.

  The doctor shifted in his chair and seemed to choose his words carefully. He looked at Natalie. "Mrs. Jameson, I understand that a lot of time has gone by. But if you have the ability to contact the man, it might be the best way to proceed for Gillian's sake. If he acknowledges Alport's, we wouldn't need to put her through the additional stress of a biopsy."

  "I'm sorry, that's just not possible," Alex spoke before Natalie could open her mouth. "We need to proceed forward from here. You're pretty certain this is the diagnosis, then? It couldn't be something else?"

  The man shrugged. "As sure as I can be without a full history. Did you read the information I sent home with Gillian? Are you clear about Alport's and how it's handed down?"

  "We read it and did some research of our own on the internet. Something about X chromosomes."

  He nodded. "Alport's syndrome is much more common in boys and men because the gene that causes it, called COL4A5, is on the X chromosome. Women have two X chromosomes so they usually have a normal copy as well as an abnormal copy of the gene. Men are XY so they have only one X chromosome. When there's a problem with the COL4A5 gene, it affects the only X they have. Boys who get the disease this way must inherit it from their mother, because she contributes the X chromosome and the father the Y."

  Alex added, "And the daughter of a man with Alport's will always inherit his diseased X chromosome."

  "Exactly. That's why we'd like to know for sure if Gillian inherited this from her father."

  Alex cleared his throat. "I'm her father. The man with the diseased chromosome is out of the picture, so let's move forward. What can Gillian expect in the future?"

  The doctor gazed at him for a moment then nodded. "Most men with Alport's syndrome develop kidney failure in early adult life, commonly in their twenties or thirties. Some, particularly women, only get the disease in later life. Before kidney function deteriorates, there may be blood and protein in the urine, and high blood pressure may develop. Women may never get much more than these changes, but some of them go on to get kidney failure over decades."

  "So she might, and she might not," Natalie murmured.

  "But there are other symptoms," Gigi said.

  "Deafness, at first to high tones, develops at about the same age as kidney failure in some patients, although it doesn't happen to others. Decrease in vision is another symptom, again, rare for women."

  "How rare?" Alex asked. "I'm an accountant, Doctor. I relate to numbers. Can you put a percentage on this thing?"

  The doctor leaned back in his chair and flexed his fingers. "The lifetime risk of severe kidney disease for women who carry Alport's is estimated to be one in five or slightly higher. Most women never have severe trouble, and those who do, are usually much older than men who are affected."

  "One in five," Alex repeated. "Twenty percent." He looked at Natalie then Gigi. "Not bad odds, sweetheart."

  Gigi frowned. "None in five would be preferable."

  Natalie glanced at the doctor. "So there's no cure?"

  "Not yet. Researchers are doing remarkable work with stem cells, but as you know, that takes time. If severe symptoms present themselves then we can discuss a kidney transplant, but that's way down the line. I see no evidence of that in Gillian's near future.

  "One more thing I should add. If it is Alport's, Gillan, you might want to consider genetic counseling. You'll want to know the facts before you consider having children."

  "Children." She buried her face in her hands. "I hadn't thought of that."

  Alex sighed. He hadn't, either. He smiled sadly at Natalie who was trying not to cry.

  The doctor went on, "I'd like to do the biopsy so we're certain about what we're dealing with. After that, if my diagnosis is correct, we'll monitor her with regular urinalysis which might be annoying to schedule in, but certainly nothing you can't live with." He patted the desk in front of Gillian.

  She uncovered her face and nodded. "I can pee in a cup, no problem. What will the biopsy involve?"

  "I'll do it in the hospital. The whole thing takes about an hour. We'll give you a local anesthetic, inject a series of needles and collect tissue samples. After that, you'll lie in a bed for a few hours just to make sure there's no excessive bleeding. Nurses will monitor you, and once we're confident you're okay, we'll boot you out. Results take a few days to get back. I'll phone you and mail you the official report. You won't need to come in to the office because there's nothing to be done at this point."

  "Okay." She glanced from one parent to the other. "Sounds like something I can handle."

  "I'd like to be there with you," Natalie said softly.

  "Sure." Gigi smiled at her mother.

  Alex's heart melted. It was the first genuine smile he'd seen from Geege in months. "I'll try to be there, too, sweetheart. It just depends when the test is scheduled. We're heading into tax season, you know."

  "We know," Natalie and Gigi said in unison. They'd heard it before, every January for the past twenty-some years.

  "I'll have my nurse schedule the test and give you a call with the date and time." Dr. Arkin rose. "I hope I've answered your questions satisfactorily."


  "You have." Alex stood and shook his hand. "I think we feel much better going into the holidays knowing what we're up against."

  "Alport's Syndrome is manageable. You're wise to do lots of research. There are forums online if Gillian wants to chat with other Alport's patients. Of course, as with everything online, don't believe everything you read. If you have questions, call my office. We're glad to help."

  "Thank you." Gigi extended her hand and the doctor shook it.

  They walked to their cars in the parking lot.

  "Could be worse," Alex commented.

  "Could be much worse," Natalie agreed.

  "Thanks, you guys." Gigi hugged both their necks at the same time.

  "Want to grab some dinner?" Alex offered.

  "I would, but I'm beat. It's been a long couple of days. I think I'll go back to my apartment, heat up a bowl of soup and hit the hay."

  "Sounds good. So you're working a half day Christmas eve?"

  "Yes. I'll be packed and ready to leave from there. I'll see you early afternoon."

  "See you the day after tomorrow, then." Natalie kissed Gigi once more, followed by Alex. They watched her climb into her little car and drive away.

  "She doesn't seem quite so angry anymore," Natalie commented.

  "There's a new villain to target her anger at, I guess. The dastardly Mr. Alport." He opened the door for her and she climbed in.

  She reached out and squeezed his hand. "You were right, babe. It really could be worse."

  He smiled and leaned in for a kiss.

  * * * *

  Natalie was baking pumpkin pies the next evening when she heard the front door open and close. "Forget something?" she called to the boys, who had just left for the movies.

  "Only my manners." Gillian pulled off her gloves as she entered the kitchen, followed by her heavy coat. "I haven't seemed to bring those with me the last few times I came home."

  Natalie blinked back surprise. "What are you doing here? You said you had to work tomorrow until noon." She approached Gigi for a hug and was shocked at how firmly her daughter squeezed her.