Hillary Savoie’s daughter is born with a rare genetic mutation.

Hillary Savoie is a writer, advocate, and mixer of killer cocktails. She is also mother to Esmé, a beautiful little girl with multiple rare genetic conditions. Hillary has blogged about life with Esmé since 2012. Her writing has appeared onMotherlode—the NY Times parenting blog, The Mighty, Vector—Boston Children’s Science and Innovation Blog, and the Huffington Post Blog, among others. In 2015 she published two short memoirs, Around and Into The Unknown and Whoosh. Hillary is the Founder and Director of the Cute Syndrome Foundation, which is dedicated to raising research funds for and awareness of PCDH19 Epilepsy and SCN8A Epilepsy. And she holds a doctorate in Communication and Rhetoric from Rensselaer Polytechnic Institute, which was great preparation for parenting Esmé, who is an expert in nonverbal persuasion. In her free time she enjoys gardening, dancing to Beyoncé and the Muppets with Esmé, snuggling her geriatric cat, Chicken, and dressing her daughter up as famous women from history. Follow her on Twitter and Instagram @HillarySavoie and Facebook @HillarySavoieWriter

This story originally aired on Jan. 27, 2017.

Story Transcript

Hi, everyone. Thanks for being here tonight. Thank you. I’m going to tell you a story about my daughter. When I was expecting my daughter, I planned to have a labor and delivery with as little medical intervention as possible. I imagined myself having an unmedicated labor, giving birth in a darkened room. Where afterwards I’d get to lie there with my husband, Andre, and our little baby and admire her for hours before we’d have to share her with anyone else.

My designs, they didn’t really stop there though. I knew that when she was born I would breastfeed for as long as possible, I would use cloth diapers and at home we would speak French, my husband’s first language. Those were my plans. While I was busy making those plans, the plans in my daughter’s DNA were at work building her. Her cells were multiplying at an alarming rate, her genetic material duplicating over and over in a process that I’d always sort of labeled “crazy shit our bodies do.” It’s just too miraculous to comprehend.

I read those email updates that you get in your inbox when you’re pregnant every week. They basically -- for those of you who don’t know them -- compare your growing fetus to larger and larger sizes of fruit. They also told me interesting facts, like that she was growing fingernails and eyelashes and that when I spoke she could hear my voice. None of this felt like science to me; it all felt like magic.

When I went into labor, in many ways the magic continued. I felt strong and prepared as those waves of contraction spread through my body. I disappeared into that place inside each of us that’s ancient and animal. When my daughter was born, I reached for her immediately. The idea of her being even just a few inches away from my body felt unbearable. She met my arms and I took stock of her. I saw her full head of dark hair, I ran my hands over her body, and I said,  “Allô, ma belle. Je t’aime.” She was perfect, absolutely perfect.

In a matter of what couldn’t have been a minute or maybe two, I heard the midwife say, sternly, “Turn up the lights -- now.” You see, she saw something that I, as the happy first-time mom, didn’t see. What she saw was a baby whose skin was tinged purple-blue, who was making little more than a gasping, mewing sound, a baby who wasn’t breathing well. My daughter was lifted from my arms quickly and carried down the hall to an isolated nursery, a brightly lit nursery, and put under an oxygen hood. A few hours later, she was transferred in the back of an ambulance to a larger hospital that had a neonatal ICU.

Now, in instances like this, the mother is not transferred with the baby. So about six hours after she was born, I signed, against medical advice, discharge paperwork and walked, holding my husband’s hand, out of the hospital, to our car, and sat in the passenger seat, stunned, as he drove us along the path the ambulance had only just driven with our hours-old daughter.

Over the first few days of her life, rather than snuggling in quiet rooms, getting to know our daughter, we observed the silent, limp baby in a brightly lit room filled with all sorts of other babies who were very sick. We listened as the doctors matched in and out and talked to us only in the list of things that were wrong with our daughter. They told us that her genes somewhere likely bore the mark of a catastrophic change. They said they could guess at what it was, and they did, listing obscure disorders that were nothing more than random groupings of letters and numbers to me. They said they could guess, but genetic testing would be the way to know for sure.

Throughout all of this, there was my daughter, Esme. When I could lift my head above the medical jargon and really look at her, I saw a striking baby. Her features were a little unusual, but she had this wisdom to her and there was something ethereal, almost elfin about her. When we got her home over those first weeks and months, we traded in those plans for breast feeding, for pumping and difficult, sputtering bottle feeds. The cloth diapers that I had folded up so nicely in the top drawer below her changing table, I pulled those out and I used them to sop up the seemingly endless vomit that came out of my daughter.

Esme was weak and virtually silent, but she was not lacking in personality. She smiled early and often, especially when I read to her from her favorite book about the bees buzz-buzz-buzzing. My husband and I, we sort of bumbled around, new parents to a fragile child, and she watched us with an amused look on her face that walked the line between curious, loving and vaguely judgmental.

Esme’s first year of life was punctuated by two major events; they were not first words or first steps. There was the day that I walked through the doors of an ER with Esme’s three-month-old body in my arms limp and blue. She was in respiratory distress due to severe aspiration pneumonia. Soon after we arrived in the ER, my daughter’s heart would stop beating and her lungs would stop breathing. Two medical teams, three infant crash carts, three rounds of chest compressions, and my daughter’s will to live would bring her back to me.

Then there was the day, five months after that, that Esme had her first seizure in the back of our car. Andre and I looking on as tremors racked her tiny little legs and arms. In time, the seizures, they would come more and more often, and our world would shrink to the edge of our bed. I’d hold my daughter through her seizures as she disappeared in front of my eyes, and I’d tell her, “It's okay. Maman’s here. It’s okay.” What I was really doing was I was carefully observing every detail of the seizure so that I could record them later and I would text my husband when he was at work with all of the details. So he knew what was happening at home, but also so I would have a record to talk to her doctor about later.

You see, Andre’s and my language at home, it wasn’t French. And frankly, it wasn’t English most of the time either. It was the dense language of medical professionals as we talked about Esme’s care, her medications, procedures. We did this as easily as we tickled her and giggled with her and loved her because there was science everywhere in the way that we loved and sustained our daughter.

Around the time the seizures started, we received her first genetic test results back. The genetic counselor had called me at home to say that the test results were in and the testing, it didn’t find any genetic mutations. I responded to her, “Are you fucking kidding me?” [Laughs] I apologized, and there was an awkward silence and then we moved on. She explained to me that the geneticist, he still believed that our daughter had a genetic condition of some sort. It’s just the testing and it wasn’t precise enough to find it. So he ordered more precise testing and told us to wait a little longer. Ithad already been months, of course.

By the time our daughter was two, she was severely developmentally delayed. She was entirely fed by a feeding tube in her abdomen, she couldn’t sit up or speak. Most of the time, she was so fragile that I didn’t let her out of my arms; we would sit for hours smiling at each other. I would register her tiniest little movements as communication, I felt often like some form of maternal seismograph.

Between seizures and medication reactions, Esme was a happy child, a really goofy child. And she was starting to show off some pretty impressive skills -- likeshe had one toy that she could press a button on. She would press it over and over to flip through 21 different songs, playing just the first note or two, to land on and play the same song over and over -- “She’ll Be Coming Round the Mountain.” [Laughs] It’s a beautiful song.

Around that time, we finally got our first finding in these genetic tests. The test results were in, and Esme was found to have a little tiny mutation in a gene called PCDH19. The doctors, however, were clear with us. This might explain her epilepsy, but they didn’t think it was the full picture for Esme. They thought she had another mutation elsewhere, and they suggested that we continue genetic testing.

By the time she was four, Esme had done some pretty amazing stuff, she had sat herself up for the first time. A little after that, she’d done something that seemed miraculous to us, she pulled herself to stand at our coffee table in our living room. She was home alone with her father, and he recorded it on his phone. You could hear him in the background, just yelling like he was at a hockey game. [Laughs] It was the most amazing thing.

As long as she was doing miraculous things, she had also shown us that she knew her letters and her numbers. I would line up those bright magnets for her and ask her to find me the A or the C or the E, and she would do it. I had the wherewithal to record this, because I knew that her doctors, they probably wouldn’t believe me if I told them. Because what they saw was a child who still didn’t speak, didn’t eat, and didn’t walk.

Around that time, we got what would become Esme’s second genetic finding. Again, a teeny-tiny little genetic change, in a gene called SCNAA. Yet again we were told that this didn’t explain the full picture of Esme either, but we had essentially reached the end of the line of the kinds of tests that the doctors could order until the science had advanced.

But, fortunately for us, two genetic researchers -- the kinds of people who find new genetic mutations and genes that other people haven’t found yet -- were interested in my daughter. They agreed to start combing through the wilds of Esme’s genes and try to find something new in her. In time, they found not one, but two more genetic mutations in her. Both of these mutations were in the parts of our human genome that science doesn’t really understand, that they are just beginning to explore. All we know is that they are there; we don’t know what they do.

Esme will be six in January. She does not speak, yet. She does not eat by mouth, yet. She does not walk, yet. She reads, she lights up rooms with her smile, she loves music, and she is singlehandedly the most determined person I have ever met. Still, six years in, almost six years in, her genetic conditions exist just on the outside of what we currently know about how the human genome works.

I have to say that, at this point, I’ve come to understand that we may never know the secrets that are locked up in my daughter’s DNA, and that's okay. In some ways, actually, I think I might prefer the poetry of that unknown and unknowable in my daughter. Because, you see, people like my daughter have a lot to teach us about science, certainly. But they have a lot more to teach us about human difference and variation, about compassion and vulnerability, and about what unconditional love looks like.

I think about that, and I hang on to that a lot. Because, these days, science is so intertwined in my life that there are days I don’t know where it ends and my family begins. I also know that that magic that I envisioned when my daughter was growing inside of me -- it’s real too. There’s a magic that makes Esme perfectly Esme. It wasn’t the magic that I had envisioned when I was pregnant with her, when she was just a ball of cells growing inside of me, multiplying her genetic material, those four errors and maybe others over and over again. It wasn’t that magic, but it was even better. Thank you.