How it Was for the Parents (Part 3 of 3)

pku

The day of the party dawned gorgeous. In fact, everything went perfectly until Anne saw the baby. Melissa hadn’t allowed anyone to meet Suzanne before the reception, and then she introduced her child by placing the bundle in her best friend’s arms and asking Lindy to say some words over her little goddaughter.

“Oh, but you’re a lovely one,” Lindy murmured at the tiny face. “May you be as good as you are beautiful.” She passed the baby to Melissa’s other close friend. “I pray that you’ll always love yourself as much as we all love you now,” Sarah breathed over Suzanne. “You are born under the sign of Aries, on the cusp of the Bull,” began Elizabeth as she took the bundle from Sarah. “Your rising sign is Scorpio and your moon is Aquarius. You are destined for great deeds and interesting passions.” Valerie next held the baby. “I did a reading on the day of your birth, and I dealt the cards again this morning. I see wealth in your future, and more than one great love.” She handed the infant to a puzzled-looking Anne.

“Hello, Sweetheart,” Anne crooned to the baby. She glanced up at Melissa, over to Keith, back to Melissa. “I’m so surprised at her coloring; was she tested for PKU?” The parents gave her blank looks. “Keith, you must have followed them to the nursery; did they do any tests on her diaper?”

“Well, yeah. I mean, I don’t know about a diaper test, but they were pretty concerned about the lack of testing during the pregnancy. I know they took blood from Suzanne, and they told us some of the test results will take another week.” Melissa moved closer to her husband while he spoke; she followed his words with, “What tests, Keith?” and then a shriller: “Annie, what are you talking about?”

“You know me and my medical studies; a little knowledge is a dangerous thing and I may not get it myself.” Melissa’s distress was extreme enough for Anne to begin temporizing. But she added, “PKU is Phenylketonuria, and it’s an inherited inability to metabolize an amino acid of a similarly unpronounceable name. I learned about it not long ago, and saw my first cases in the last year. There’s a simple chemical indicator that can be used on a wet diaper; in fact, I think I have a few of the test swabs with me. Let’s go into your bedroom; I left my bag there. It feels like Suzanne could use a diaper change anyway.”

Keith and Melissa went with her of course.  They watched Anne touch a Q-tip to their baby’s used diaper and they saw the swab turn as bright a green as Suzanne’s outfit. “This isn’t what I wanted to see,” Anne reported. “It indicates elevated levels of phenylalanine in Suzanne’s urine and if I’m remembering correctly, that means she has about a two-thirds chance of PKU.”

“But if it’s this easy to find, how come the hospital…?” Melissa began, and Anne spoke over the end of her question with “If you’d gone in regularly during pregnancy, the doctor would have had a better idea about what was going on, and probably would have done the simple test. As it was, they needed so much information about this baby that they took blood and sent it out for much fuller results. I’m sure you’ll hear from them soon.”

“But in the meantime,” started Keith, and Anne added, “nothing has to happen today. The first behavioral signs don’t appear until the child is at least four months old.”

“How did you…oh, I don’t know what to ask first,” Keith was shaking his head as he backed up to the bed and sat weakly.

“I’m sorry, you guys. I’m not going about this well. Let’s all sit down.” She waited for Melissa to finish changing Suzanne and to take a seat with her daughter in her arms. “The retention of phenylalanine in the patient’s body tissues inhibits the metabolism of an enzyme called tyrosine, and that leads specifically to a decrease in the formation of melanin. Most phenylketonurics are fair-skinned and have blue eyes regardless of their parents’ coloring. That’s what put PKU in my mind.

“If I’m remembering correctly, PKU is based on a recessive gene. You both must carry it. Any baby of yours would have a 25% chance of having PKU and a 50% chance of being an unaffected carrier like you two.”

Melissa began, “If I’d only…”

“No, Melissa. Don’t even start that. You need much more information that I can give, but this isn’t a terminal diagnosis. Suzanne can be fine. If you do nothing, she’s at high risk for central nervous system problems: retardation, epileptic seizures, abnormal brain wave patterns. But I think this can be controlled by diet; it won’t be an easy life, but I think if she avoids meats, all dairy, high proteins in general… Let me introduce you to your vegan daughter! I think there’s some special drink for people with PKU…Wait. You must have a diet soda around. Bring me a can.” Keith fetched a Fresca and Anne examined it. “Here,” she pointed. Sideways and next to the Nutrition Facts was the phrase PHENYLKETONURICS: CONTAINS PHENYLALANINE. “You’ll find those words on a lot of beverages.”

Anne didn’t have any more information to give them then. She forgot the esoterica about the isolation of phenylalanine from lupine seeds in 1881, but Melissa wouldn’t have been interested in that anyway. In fact, Melissa was only interested in protecting Suzanne. She was determined that her baby would never even see a diet soda. She was prepared to extend the ban to any other substances of danger to her daughter.

Keith’s thoughts went to business. He immediately began to envision the PKU-designed beverages he would produce. After that, he considered Melissa’s proposed ban; he couldn’t see that lasting if he wanted to make a fortune in the field. Then again, he couldn’t see going against his determined, emotional wife.

The party paled. Guests left the new family to their privacy as soon as they could, expressing ignorant sympathy and amorphous offers of help as they went out the door. Lindy and Sarah and Elizabeth and Valerie went with the rest. Even Anne departed. The parental debate began.

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