For years before becoming a mother, I thought I knew how to help a child through life. I had so many ideas—about learning and emotional development and religion and nutrition and relationships and when to start wondering about a career and where to live and how to pick a mate and more. I had spent years trying to understand the world and how it worked, and I was excited to be able to use this knowledge to help a little human navigate it better than I had.
What I did not know was that the circumstances of my son’s life, in ways both small and very specific to him as well as enormous and relevant for hundreds of millions of people, were radically changing. The America we are in is an America in a period of massive, comprehensive change, with whole swaths of it decaying and falling apart and new things trying to be born and built. (They often don’t tell you this in science class, but molting is an inherently dangerous process.)
All of which meant that the storehouse of knowledge I had amassed by the time my son was born—the thoughts I had about where he would go to school and how he would learn about life, how children make and keep friends, how to maintain good health. . . really my ideas and assumptions about almost every aspect about his future—was all, at best, inadequate. At worst, it was useless.
On a muggy night in September 2017, I found myself at the open house of my then–three-year-old son’s new preschool. I took a seat in the auditorium next to the mother of a girl in Elijah’s class, whom I had first met because our kids shared an occupational therapist. She told me that her daughter had a rare genetic disorder called Angelman syndrome, which I remembered distinctly because it was the very thing I had diagnosed Elijah with at 18 months, based on an internet search of the digestive and developmental symptoms he was experiencing.
I mentioned my concerns about a genetic condition to our then-pediatrician, who picked up Elijah and shook him. “No, his muscle tone is good,” he said, ticking off a hallmark symptom. To assuage my fears, he did a basic genetic test, which came back negative. I pressed on, and started asking people about Angelman syndrome specifically. A second doctor noted that Angelman syndrome is marked by a universal lack of speech, but Elijah was babbling and even saying words. (When I peered over that doctor’s shoulder, I saw a Google search for “Angelman syndrome” on the exam room computer.) I went to a third pediatrician and asked about more extensive genetic testing: “Oh no, Alana,” she said. “I have Angelman patients. Elijah is phenotypically very different.”
It was a relief, mostly. No one wants their loved one to have a rare disease or disorder. But there is a unique terror in knowing something is wrong with your child, and being unable to figure out what it is—for years. I’m sure you’ve heard the adage about infants, that all they have to be able to do is eat, sleep, and poop. Elijah wasn’t able to do any of these properly, and the problems only got worse as he got older.
When school orientation ended that night, I walked my new acquaintance to the subway. On the way, she relayed her daughter’s story, which felt so cut-and-dried compared to Elijah’s. I told her about how he torqued his body on my chest after birth, the massive reflux that started day one, the inability to sleep more than 45 minutes at a time (for almost three years), the terrible constipation. But he was also a profoundly related child—knowing, focused, funny. He was delayed physically, but not profoundly—he was sitting at nine or ten months, walking and even jogging by a year and a half. When, at that age, I took him to our first neurologist, the doctor said: “Well, the good news is, it’s not autism, and it’s not genetic. Hopefully, he’ll grow out of it.” The best guess anyone could give was a small prenatal stroke, or some kind of “birth trauma.”
My subway walking partner then asked if I ever considered a developmental pediatrician, a specialist with training in the physical, emotional, behavioral, and social development of children. I had. In fact, I made an appointment with one of the exclusive, hard-to-schedule ones, and as the months wore on, my anxiety ballooned. I was desperate for an answer. But not only did this developmental pediatrician have none; she acted as though it were pathetic of me to have ever fantasized that anyone would. I asked about more complex genetic testing, and whether it might provide us with some hope. “If you do find something, which is unlikely, it probably won’t help him,” she said, “but it will help science.”
My new friend sighed. “That’s a terrible thing to say,” she said, as we neared the subway station. “And it’s not true. There is so much hope.”
Suddenly, my face got hot. I was so embarrassed. How could I have relayed that statement to someone who, unlike me, was the parent of a child with a genetic problem that was very obviously unfixable? I felt awful.
As I walked home, I thought about that movie Sliding Doors. Do you remember it? Gwyneth Paltrow plays an ad executive who is fired from her job and rushes out to catch a train—at which point the movie shows two different scenarios. In one, she catches an early train and comes home to find her boyfriend cheating with another woman. She dumps him, finds hope and a new man—and eventually happiness. In the second scenario, she misses the train and arrives only after the other woman has already left; over time, she just lives with suspicion and doubt—stuck in misery, and unable to make her life any better.
In my mind that night, I was the Gwyneth who got on the first train, lucky to have escaped a future of stagnation and misery, whereas this other mother tragically ended up on the second one.
What I didn’t realize was that the exact opposite was true. My companion was on a train headed somewhere; she was the one who possessed a crucial piece of knowledge on which to build a better life.
I, on the other hand, was stuck in the dark, and would be for four and a half more years. Four and a half years of not knowing how to help our son. Four and a half years of EEGs, MRIs, blood tests, tens of thousands of dollars in uncovered doctors’ appointments, medications, and supplements, national and international trips for therapy of all kinds, of waking up every two hours each night while maintaining two full-time careers. If parenting a child with special needs is like pushing an enormous boulder up a treacherous mountain, parenting a child with special needs and no diagnosis is like pushing an enormous boulder up a treacherous mountain wearing a blindfold. And the boulder is covered in Vaseline.
Wild with frustration and pain, I became obsessed with the systems that seemed incapable of spitting out a definitive answer about my son’s condition—the endless conga line of impressively credentialed, often fantastically insensitive doctors; the black abyss of insurance companies into which we throw enormous sums of money only to receive more bills in return, along with confusion (on their part, and often, soon, also on yours) about whether the procedure is really necessary in the first place; our schools, which torture the best teachers and elevate the worst ones, like some sort of distillery from hell. There was something about motherhood that enabled me to see the fullness of our society’s rot more clearly.
In the late fall of 2021, when Elijah was seven years old and still struggling, we decided to redo all of his testing from the beginning—regardless of what any doctor said, and regardless of what insurance would cover. New blood tests, new EEGs, new MRIs, new comprehensive genetic testing. As my husband and I sat in the waiting room during the MRI, recovering from having wrestled our son down long enough for the anesthesiologist to knock him out, I could barely speak. “The good news is, this MRI is very likely going to show nothing, just like all of the other ones,” my husband said.
I became enraged. “What’s the point of all of this, then? Of all this technology, all of these systems? Why shouldn’t we just check out of modernity, out of whatever idea of America we have?” My question was rhetorical, but I didn’t get the argument back that I wanted.
You might be able to predict what happened next, though I’d ask you to imagine how surreal the moment was for me. The MRI was normal but the genetic test came back positive for a mutation on chromosome 15: Angelman syndrome. My son may be different from many others with the disorder, but, like everyone else with AS, his body does not produce enough of a protein known as UBE3A. If my husband hadn’t witnessed all of the doctors’ appointments, phone calls, and emails over the course of eight years, I would have had a mental breakdown.
What you couldn’t guess, though, is what happened in the Zoom meeting with the geneticist who told us the news. After going through the results, my husband asked whether there were any advancements in treatments. “Yes,” she said. “You should look up an organization called FAST; they’re behind some very exciting work being done in this space. In fact, I’d almost say that, if you’re going to get any diagnosis in 2022, this is the best one to get.”
As she talked, I went on the FAST website, and nearly burst into tears. The chief science officer was none other than my subway walk companion from all those years before: Allyson Berent-Weisse. In the time since that conversation, while I was palming around aimlessly in the dark, she was using that kernel of knowledge, and her love for her daughter, to turbocharge a cure—work that is now poised to change the life of so many, including my son.
In the universe of drug development, there is something known as the Valley of Death—the chasm between when a treatment is discovered, which often happens in a university lab, and getting it into the bodies of humans, which is primarily the purview of pharmaceutical companies. Innumerable treatments, including promising ones, don’t make it over that canyon, often because they don’t have advocates who know both worlds and who can shepherd them from one to the other safely and effectively.
In a dazzling turn of fate, Allyson’s day job, from long before her daughter was born, was as a veterinarian and interventional radiologist who designed medical devices for animals that could then be used in children. She is what’s known as a translational scientist—or, as I’ve come to think of her, a canyon-jumper—someone who has spent decades learning how to push treatments through the development pipeline, from concept to application for patients.
And she was right about everything the night we first met, including the reasons for hope. There have always been ways to change nearly everything, including how our brains work. Now there are also ways to change our genes. What will it look like to fix a genetic mistake in a person who’s already lived and developed for years with it? We don’t know, but we’re about to find out. In AS, we have four treatments already in clinical trials, and more on the way. In fact, thanks in no small part to Allyson, our little rare disease is poised to change the trajectory of a host of neurogenetic disorders.
If you’ve found yourself in conversation with me at any point over the past five or six years, I probably gave you an earful about the brokenness of our systems. My recent experiences have not upended these ideas. If anything, they’ve given me more fodder for the argument. Here, for example, is a horror story scarier than any Nightmare on Elm Street, in which a cure for a rare and fatal disease somehow made it through all of the stages of discovery, clinical trials, and regulatory approval, and was in the process of successful administration to patients—only to be shelved by the biotech company that had been awarded the exclusive license to it. Why? Not because of any concerns about safety or efficacy, but for “ ‘business reasons,’ meaning that it wanted to invest instead in treatments for more common diseases with more potential for profits.” Broken, broken, broken.
Still, my aggressive challenging of America’s systems is ultimately because I am so invested in them. My son’s life is going to be saved by some combination of universities, pharmaceutical companies, and the federal government—the very entities whose opacity and brokenness I’ve written so much about. They are broken, in many ways, as is this country right now.
But what I didn’t account for in my original diagnosis was. . . motherhood. I didn’t realize that being a mother wasn’t about transmitting some fixed repository of knowledge onto a static landscape; it’s about balancing tradition and the past and investing in what’s here with a willingness to imagine a radically different future, and then breaking or building anything that will bring that about.
Earlier this month, Allyson was invited to give grand rounds at Yale. For an hour, I watched as a room full of pediatricians and geneticists absorbed how far along the research and drug development had gotten, and marveled at the way a group of parents had managed to lift the whole world off its axis in an effort to cure their loved ones. I mentioned to a few doctors that, in the year since our own diagnosis, I’ve heard some parents sniff that Allyson is “just a vet” (if you’ve never been part of a rare disease community, they’re generally a mix of the most intense and incredible friend group you ever had and a Mexican telenovela). The doctors burst out laughing. “She occupies the exact space that is the scientific linchpin in the drug development pipeline!” one of them said. “It’s incredible to have an actual translational scientist so invested in your disease.”
Another doctor standing to the side piped up: “What’s really incredible is that she’s a mother.”