Free Book Excerpt from When the Baby Is Not OK: Hopes & Genes by Jennifer J. Brown, copyright 2025, all rights reserved. To read the full book, find it at your local independent bookstore or visit Bookshop.org / Apple Books / Amazon / Barnes & Noble / Kobo / Fable.

Chapter 1. Hospital’s Call

“In nature nothing exists alone.” – Rachel Carson

On the day my first baby was born I didn’t think about the heel-prick blood test every newborn gets to check for  health conditions. Nine days after her birth I got the phone call that changed my life forever. I was entering a new world.

It takes a while to hear the results from this universal test to see how the baby is doing. In New York it’s usually three to seven days. Before the call I was taking care of the little angel at my studio apartment near Cold Spring Harbor Laboratory about an hour east of New York City. I was learning. Trying to get her into a routine of nursing well and sleeping peacefully. She was such a happy baby.

Every little thing she does is magic, I thought.

I was clueless about parenting. My friend Lana came by a few times and taught me valuable basics. I was grateful. How to change a diaper. How to safely bathe my newborn. Lana was capable, efficient and soft-spoken. She was about my age and in medical school at the State University of New York (SUNY) at Stony Brook. I was finishing up my graduate studies in genetics at the same place. She and I had met the year before in a tedious but unfortunately required biochemistry class. Because she had a much younger brother and sister Lana knew a lot that I didn’t know about how to handle babies and baby messes. I had zero experience with babies – not even as a bystander. With Lana’s patient help, I was getting the hang of caring for my sweet newborn.

A fussy and impatient visiting nurse came by my place shortly after the birth. A stranger. The hospital sent her for free to check on me as an at-risk, first-time mother. Maybe because I was single and didn’t have health insurance or a regular doctor at the time. The nurse was so not happy. She scolded in sharply clipped tones about my diet and routines, or really my lack of them, for about an hour before she left.

“Too much coffee, too many sweets and not enough protein. Not enough exercise. Not enough sleep.”

I agreed with her on all of that and was working on change. It was a lot.

She thought my precious daughter was doing great though! Clean. Active. Gaining weight.

“What a pretty baby! What a good baby!”

During those first nine days of her life my baby Lily did not cry.

Unusual, I thought. But still, I did appreciate the peace and quiet.

I cried at times for no particular reason. Exhaustion maybe. Or possibly wildly fluctuating oxytocin and serotonin levels – the human body’s own chemicals that act as natural love and happiness hormones. No surprise really because everyone talks so much about the baby blues. Those may creep in after the internal biochemical whiplash of childbirth. 

Out with Lily at the laundromat to wash her many tiny things, I got my go-to items to cheer myself up. A bar of dark chocolate with almonds and a fashion magazine. The baby seemed to watch me with interest as I flipped the pages and folded her clothes. She didn’t fuss.

She’s content, I assumed.

Munching on my favorite bittersweet candy as the dryer spun around and around had no effect whatsoever on my mood. An undercurrent I couldn’t identify was sucking me down. Strong and inexorable as gravity. I started to think about getting help. 

I’ve blocked out a lot regarding the hospital’s phone call that pivotal day. The brain’s neural pathways are blessedly wired to forget certain things. A version of the words does come back to me but not the sounds or pictures that make up my other memories. I can’t hear the caller’s voice in my head. Not whether they were young or old, a woman or man, kind or cruel. It went something like this.

“There’s a problem with the baby’s first blood test results from newborn screening. The baby is not OK. You’ve got to come back to the hospital. Right away. Your baby tested positive for a rare disease. It’s a genetic disorder, phenylketonuria. PKU.”

Hmm, I thought, really? What are the odds?

Abstract thinking can avoid facing difficult feelings. It’s one of the psyche’s common defense mechanisms. Somewhat effective protection from mental pain. I’m a numbers person and so those immediately raced helpfully through my mind. Here they are. The odds are less than 1 in 10,000 that a newborn baby will have PKU in the US. True, as the caller said to me, it’s rare. And for me, personally? At the time I was studying to become a geneticist – a scientist who works with DNA, genes and those diseases that run in families. Only 1 person in 10,000 is a geneticist in the US. So that’s about as rare as a baby having PKU – but completely unrelated.

The odds of two independent things happening at the same time are small. Far smaller than either one of them happening alone. They’re the odds of one multiplied by the odds of the other. Even in my blurred postpartum state of the baby blues I knew that came to only 1 in every 100 million births. So this event of a geneticist having a baby who has PKU might happen to maybe 3 people of the nearly 300 million in the entire US population. That certainly put things in perspective.

Is it even possible? Yes. But so very, very unlikely.

Every thought I’d ever had in my entire life that related in any way to PKU flashed before my eyes. Like what some people say happens before the moment of death. I felt that threatened. I couldn’t think about the promise of modern medical care for people who had PKU because I didn’t know a thing about it. Nothing about the present realities for children or adults who were actually living with PKU. Nothing about the optimism that might inspire. Nothing about the hope.

I vividly saw what I’d heard, learned and read. During my science classes I’d heard that babies were sometimes born with atypical health conditions labeled “rare diseases.” Having PKU was genetic; it ran in families. Having genes for PKU prevented breakdown of the amino acid phenylalanine. Babies were born healthy but quickly developed a lifelong health condition with effects that were labelled, at the time, as “mental retardation.” Today the stigmatizing and hurtful term is less often used. Instead, clinicians refer to learning delays or intellectual disability. But when the hospital staff said “PKU” to me on the phone, that’s how I’d been taught. And so that’s what I thought.

During genetics and psychology courses I’d learned that having PKU could mean childhood disabilities.2 That the condition led to developmental delays, mental illness, seizures and more. That when a girl born with PKU grew up and tried to have children of her own she was more likely to lose the baby from miscarriage. Or to have a newborn with a very small head (microcephaly) who was also at higher risk for heart defects at birth.

From my own reading I knew that in too many families, no one had recognized PKU for what it really was. That sometimes a child lived out their life confined to an institution, painfully separated from their loved ones. I’d read about renowned author Pearl Buck’s daughter’s condition which went undetected and led to lifelong disability. The first woman to win the Pulitzer, Pearl Buck also received a Nobel Prize in Literature for her popular novels. Her historical fiction book The Good Earth about a Chinese farming family’s life story had been a bestseller in 1932. It was later made into an award-winning movie, and regained popularity once again after being chosen for Oprah’s Book Club in 2004. The classic story’s protagonist, a farmer, refers to his oldest daughter unkindly as “the poor fool” because she never develops mentally. The author based the girl’s character on her experience with her own daughter. I’d read the book as a child after my Uncle, Donald Potter – who lived in China and taught English there – mailed it over intending that my mother would read it. He was distressed when he found out I’d read the very grown-up book instead.

In graduate school genetics classes I’d read another one of Pearl Buck’s important books. A heartbreaking memoir, The Child Who Never Grew shares her real-life experience with her daughter Carol. It became a classic in medical genetics studies. Baby Carol had a PKU condition that went undiagnosed and so wasn’t treated. Her mother was a celebrated writer but Carol couldn’t speak or care for herself. No one knew why. Her mother reluctantly placed the little girl in an institution against her will, and in her memoir described the suffering that separation caused them both.

To me, the hospital phone call about my own daughter – and all that it implied – seemed surreal.

Memories pushed back against the unwelcome news all at once. They raced by me in those first few seconds. At my 10-year high school graduation reunion Upstate in the Catskill Mountains the year before, I’d seen old friends with their partners. Listened to them talk about their daughters and sons.

I’ll never have that chance, I’d thought then.

Previously married, my ex-husband and I had decided against having children partly because of my own health limitations. After several near-death experiences from allergic reactions to bee stings that landed me in hospital emergency rooms during high school, I had imagined I could never be a good mother. Not reliably there. Doctors told me that if I didn’t get to a hospital within minutes of a sting, I could be dead. In reality fewer than a hundred people actually do die from insect sting allergies each year. But still, the idea had scared me into living for the moment instead of for a future I wasn’t sure I’d have.

The remote possibility that my perfect little baby now had a genetic condition which could lead to neurological effects on her brain – and potentially also prevent her from having children of her own one day – was all together unbelievable. 

Odd intrusive thoughts followed in a rush.

What if it is true? Does that mean the end of the line for my family and their DNA?

I had one sibling, a sister who told me years before that she was determined never to have children. My father’s only brother had lost his life to a roadside landmine explosion as a young soldier on the day after World War II ended. No children. I knew my paternal grandmother well, and she’d never recovered from the loss. Maybe all of us would completely miss out on having future generations on Planet Earth. A family extinction! The idea froze my brain.

Unthinkable.

I immediately decided the hospital was wrong. They called the wrong number. They got the wrong baby. This had nothing to do with me. That unusual test result was definitely not for my baby; it was for someone else’s baby. I stopped considering the idea at all right then and there while I was still on the phone. Denial is a common but unfortunately nonadaptive defense strategy. Really doesn’t work very well. It swelled up in a powerful surge anyway and quickly took over my mind. In fact, I felt annoyed that the staff called me at all.

“Go call the right freaking person, that’s not me,” I said. And I hung up.

I wasn’t entirely alone in having this dysfunctional reaction. Parents of infants born with PKU often recall despair when asked about their experience with newborn screening. Researcher Sophie Cassidy and her colleagues summarized parental memories of the event in the journal Nutrients (2023). Some parents were shocked, devastated or terrified by the news. The call about their baby’s test result had been traumatic. After that first healthcare contact many parents described well-known symptoms of depression. Some were overwhelmed by grief. Others blamed themselves for giving their child an inherited condition which could be disabling and that they didn’t know a thing about.

When they get that first call, too many new parents do not yet know about the differences between care for rare conditions in previous times and the care available now. These are worlds apart. Too many parents have not yet heard that early detection and medical attention can make life-changing differences for babies born with genetic conditions like PKU. New parents may not yet foresee the positive future this promises their family, which might have eased their fears. The simple reason is that all too often none of that is provided to them, upfront. Their healthcare system’s first communication is flawed, like mine was. The information provided is inadequate – as Cassidy’s and other parent surveys have reported.

I immediately resented the hospital caller for what was, at least in my mind, obviously their mistake. This kind of futile and defensive impulse to blame the messenger comes from a deeply felt need to make sense of an unpredictable and painful situation. I imagine the hospital’s team thought I had a really bad attitude. I did.

Someone with what’s labeled as a “bad attitude” may be in emotional despair, though. Suffer, and cloak their hurt in anger so others can’t easily see the pain. Then naturally most people around them don’t feel much of anything like empathy or compassion. Negativity can become a vicious circle; positivity could have been a healing one.

When I got the news that my first baby was not OK I certainly had no interest in anyone’s sympathy. I wasn’t looking for understanding or help, either. I wanted them to go away and leave me alone. But they didn’t. When friends called me later that day I described the hospital’s ridiculous and ironic mistake to each of them.

“Me? A baby with PKU? While I’m in graduate school for genetics? Just, no. Forget about it,” I joked.

“Go get the second test,” they all said, not in the least amused.

I heard it as a refrain of unwanted advice – like a song that gets stuck in your head. One you don’t even like. An earworm.

To go back for the repeat test was exactly what the hospital staff had called to tell me to do. Every health-focused website a parent consults will say the same thing. Every midwife, doctor, nurse practitioner, nurse or physician assistant they ask probably will too. For some infants being taken in for the second test is quite frankly a matter of survival. For my own daughter an early diagnosis could be life-changing. The difference between a healthier childhood or possibly living with irreversible neurological, mental and physical effects of having PKU without access to specialized medical care.2

A fact the health worker didn’t mention on the phone which could have been so very helpful was that most times newborn screening results are false alarms. Surprising, right? But in fact it’s true that in the majority of cases the retest at the hospital or clinic will show the family has no cause for concern at all. Not primarily because people make mistakes – which of course they do – but because the tests aren’t so accurate. That’s one very good reason every parent who gets the call might want to go back for the second test. They could get the good news that their baby’s health is actually OK. That would have been a comfort for me to hear.

Still, sometimes the first screening results are correct. The baby has an unusual health condition and needs medical care in order to live their best possible life. That’s the real reason to go back and why the hospital had called me. Somehow the message did not get through.

Brushing things off and retreating from people who say terrible things is my “normal.” I try to focus on the positive. Don’t enjoy conflict. Do my best to avoid arguments. This attitude can be a personal strength and it’s one I’m thankful for having at times. But it’s also been a weakness now and then. Especially in matters of health. Because what’s uncomfortable may still be important to face. Like the results of a newborn’s screening test.

The day I got the call from the hospital my friend Lana loudly protested my not taking the whole thing seriously. She wasn’t having it. Over the phone she sounded increasingly concerned about the hospital’s news. Finally she got frankly upset with me. I was baffled. This was the first time in a year of friendship.

Lana, angry?

She’d never outright argued with me before. Disagreed, teased, joked – yes. But not this. I thought she might be having some kind of emotional problem. I felt a little sad because I cared about her. But at the same time I didn’t really want to think through her issues too deeply. I was busy taking care of a new baby; I was tired. And I thought the people at the hospital who’d called me were simply wrong.

Lana arrived at my door within the hour. It was mid-October. Sunny. A puff of cold air and reality came in along with her when she stepped inside. She seemed perfectly calm now. Such a comfort to see in a world turned upside down. The same soft brown ringlets of her hair bouncing halfway down her back. That familiar and steady hazel gaze under her sleepy eyelids. Her oval face was inscrutable as always.

My friend didn’t look me in the eye. She delivered her rationale in a nonstop and soothing tone while she got things ready. Not a moment was left open for debate. As she talked I silently got my fluttering parakeet back to her cage by the window. Daylight streamed through bright flowered curtains. It landed on the irritated bird’s blue feathers where she sat flapping on her wooden perch. Lana moved steadily as she bundled me and my baby up and shepherded us outside and into her car.

Oak leaves crushed beneath our steps gave off the faint smell of fall and death.

“If they have the wrong baby, and you go, and you have the second test, you’ll know they have the wrong baby, and they can get in touch with the right baby, and it’s the right thing to do,” she said in a voice that was almost a whisper.

She made perfect sense. I couldn’t find a way around her helpful logic. Naturally I wanted the right baby to have the benefit of immediate medical care. Who wouldn’t? My friend successfully appealed to my altruistic tendencies. And those are healthier psychological defense mechanisms. Helping someone else out can lessen the pain. At any rate I couldn’t manage to avoid Lana’s directions because she was right there.

 “OK, I’ll go.”

 I really didn’t feel like it. I sulked in the back seat. Stared out the window. Looked at the tree colors typical of autumn in New England – yellow, green, orange. Red, red, red.

The baby slept.

To this day I have a vivid and visceral memory of arriving at the hospital garage and getting out of the car with my daughter. I relive it, at times. Lily was in a small, gray baby carrier with a pale blue, ditsy floral lining. She was light as a feather. Beautiful and perfect as a sleeping angel. Precious. Maybe, at that moment, my baby even had little wings. I looked around the shadowed and colorless multi-level parking area that smelled of oil and gasoline and I felt a sense of dread that I’d never really had before, or had since. I was overwhelmed with terror when I looked over at the hulking shape of the healthcare center beyond the garage. It blocked out the sun. Then the feeling passed.

I already knew.

Lana and I walked in together, me carrying my infant. It was slow going because I was getting over blood loss from a difficult childbirth nine days earlier. Still bleeding heavily, I worried I might spill over onto my black jeans and down over my white sneakers at any moment. I didn’t want to be embarrassed. Didn’t want to make a mess.

The three of us made our way through the halls and came to a sterile waiting room with orange walls and cold, bright yellow plastic seats. About a dozen lovely little children stood or sat around the women who’d brought them there. I didn’t see any men.

“Wow, is everybody with PKU really this gorgeous?” I asked Lana, because these were such pretty kids. I really tried to find a silver lining beneath the dark cloud hanging over the hospital. If my baby did indeed have PKU like these did, well, they were, in fact, also attractive. Looking around I saw that I was not alone.

As scientist Rachel Carson famously wrote in her popular book Silent Spring, “In nature nothing exists alone.”

And  I knew I was a part of nature like all the other people in the room were.

Then one of the children began screaming nonstop at an ultra-high pitch. She looked about three or four years old. The girl was thin and had shoulder-length, ash blonde hair. I’d never actually heard anyone scream like that before. It was totally shocking.

“I don’t wanna blood test!” Scream, scream, scream.

“I’m not gonna do it! You can’t make me!” More screaming.

“Do something! She’s gotta have her blood test because I don’t want her to get all retarded!” A young woman with loose blonde curls who sat near the child yelled irately at the staff. As she let out that taboo word her daughter continued to scream, staring directly at her.

The clinic staff watching seemed momentarily paralyzed. Everyone froze.

It was so difficult for me to see. A nightmare that did not fade. I imagined the women waiting with their kids had all been told some of the same frightening things I’d learned in science classes. My heart went out to them. “Retarded” was a word no parent ever wanted to hear about their beloved child’s future. Of course we were angry. Of course our children rebelled.

Then adding a louder and closer, immediately distressing layer over it all my baby Lily woke up and began to shriek.

Things kind of went gray for me at that point. It was as if I wasn’t really there. Or watched the scene unfold on some black-and-white video screen. I dissociated. I know that’s not normal but believe me, taking a step back mentally can be very calming.

Somehow my baby’s second blood test got done. And again, I had to wait. Shortly afterwards a stranger told me the results. This confirmed my earlier realization in the parking garage. What I knew but did not want to know. I was so not ready. I only heard bits and pieces of what he said.

“Your daughter has phenylketonuria, PKU, a  genetic disease.”

“You can’t breastfeed any more…”

“…have to bottle-feed a special prescription formula.”

“…have to bring her back every couple days for repeat blood tests.”

“…she may become mentally retarded.”

“…might not be able to have children.”

The baby was not OK, he’d said.

Why her?

 

     – Excerpt from When the Baby Is Not OK: Hopes & Genes, by Jennifer J. Brown, copyright 2025.