The Odds Are 1 in 30,000. You Never Think It Can Happen to Your Kid. Until It Does.
Reading Time: 7 minutesBaby health: the odds are 1 in 30,000. You never think it can happen to your kid. Until it does.
You did not think you’d be here in the hospital, holding a sheaf of papers printed out by a doctor and handed to you, a report on your new child’s genetic code. The letters and numbers are meaningless, like a browser-suggested password—STXBP1 in our case—but you will come to know them well. You will remember this moment for the rest of your life.
Under ‘variant classification,’ you see the word ‘pathogenic.’ You see a list of symptoms, some unknown and worthy of Googling and others all too obvious. ‘Epilepsy.’ ‘Encephalopathy.’ ‘Autism.’ ‘Hypotonia.’ ‘Severe intellectual disability.’ That last one sounds especially bad.
The doctor knows she is delivering bad news, but she has also solved a mystery. Things had seemed normal at first. A textbook birth resulting in a beautiful baby girl, driven home from the hospital with a cap and a onesie and swaddled in a blanket printed with pizza slices. But there was something off. Was it just hiccups? Typical infant twitchiness? No. It kept going. A whole album filled with videos of the shaking. The best one—rhythmic jerking, locked eyes, good lighting—sped things up at the emergency room. Such a clip is the ultimate VIP pass at a busy hospital, proof that you are not just another anxious new parent. Then came the neonatal intensive care unit, the application of a web of electrodes to the scalp, the first seizure caught on electroencephalogram, a massive dose of phenobarbital, consent for a ‘whole genome sequencing’—just one of many tests, no more portentous than the last—a brief return home, more seizures, and another hospital stay. And now, the results.
Next will come a weekslong crash course in Genetics 101, in which you learn that the decision to have a child was actually a roll of the dice, a gamble that works out for most but not all. You may learn for the first time that there are genetic disorders that are not in fact inherited. These are ‘de novo’ mutations that pop up randomly; most are far too rare to be worth testing for prenatally as a matter of course. What are the odds? you ask of your disorder (it is now yours too), and an answer comes back: 1 in 30,000. As you contemplate just how unlucky you are, you may recall a slide that flashed before your earth sciences class in college: a photograph of a meteorite that has crashed through the ceiling of someone’s living room, under the caption ‘low-probability events do occur.’ Yes, you had thought. Just not to me.
You will get excessively familiar not just with gene theory but also with hospitals—their smell, their alternative climate that is oblivious to the weather outside the window (if you have one), the quirks of the parking, and the schedule of the cafeteria. One morning, after you’ve taken a night to sleep at home, your phone may tell you how long your ‘commute’ will be, assuming that you must now work at the hospital. But there will be small moments of beauty. An elderly nun promises to pray. A neonatal nurse’s face falls when she sees you back in the hospital, having thought that all had been cured during the last visit. A parking valet catches the fear in your eyes and quickly takes your car. A music therapist’s gentle voice fills the room with ‘The Itsy Bitsy Spider’ to a backing track of ukulele and heart-monitor beeps. A technician ties a bow on the netted EEG cap.
When you are sent home on that day early on, with your string of letters and stacks of paper, with your diagnosis and medicines, your child may seem to be little more than her disorder. You would be ashamed to admit it, but the feeling is not unlike buying a new car only to find out that it is a lemon. Can I please return this for one that works? At first all you can do is watch the dreams disappear—dreams you didn’t even know you had, of your daughter riding a bike, running through a sprinkler, graduating from high school, driving, walking, talking, living on her own. How much we assume about our children before we even meet them.
You may partially convince yourself that, developmentally, she is only mildly behind—That counts as babbling, right?—only to see that fantasy evaporate upon contact with a typical, much more advanced baby of the same age. Your Googling will continue, and the images of distant stares and wheelchairs will inspire nothing but dread. You ask to join the Facebook group for parents and caregivers of children with the same disorder, half hoping that you are denied membership. Yes, people may have tips and comfort to share, but they also offer a frightful peek into the future.
Your family and friends will, hopefully, rally around you. Most people won’t know what to say. Why would they? Some think they know what to say but do not. The neighbor who tries to one-up your saga of seizures with a story about her son’s colic. Or the family friend who corrects you when you say that you are a ‘special needs parent’; in fact, she says, you are a ‘parent of a child with special needs.’ (She is neither.) Try not to take any of this personally.
Most people mean well. Until recently, you wouldn’t have known what to say either.
Blessedly, some people—usually those who themselves have suffered and survived—will say exactly what you need to hear. ‘You may surprise yourself,’ wrote a woman who had lost her son and lived to tell the tale. ‘I know I did.’ At a moment when all I could see ahead of me was misery, a friend whose sister has a disability told me not merely that things wouldn’t be bad but that they would in fact be good: ‘You’re in for so much fun.’
You will learn all the lingo of the disability and rare-disease communities. ‘Genetic change’ is now preferred to ‘mutation.’ Disorders are now named for the affected gene, not the Swiss doctor credited with discovery. Your child is not ‘intellectually disabled’; she is ‘a person with an intellectual disability.’ (She is still apparently ‘developmentally delayed,’ although this phrase feels due for a refresh, too. Is a train that is never expected to reach its destination merely delayed?) You might once have rolled your eyes at such politically correct, ‘person-first’ jargon, but now that it labels your person, you will not.
Yet, without knowing quite when it has happened, you will recover and deepen the feeling you had when you first met your baby—the sense that she is perfect, that she had to be yours, and that there is no replacement you could ever imagine. For beneath the diagnosis there is a child who wants to be loved and whom you will love more by the day. You will revel in her smile, her curls, her sounds. You will realize that she loves you back, even if she cannot say so and may never be able to. That is another thing you’ll learn: verbal communication is overrated. The face tells so much.
There will be hardship ahead: more hospital stays, more missed milestones. But much of day-to-day life will merely be annoying. You will spend hours on the phone with your health insurance company, with doctors’ offices, and with pharmacies, and sometimes all three at once, after you’ve perfected the art of the nonconsensual conference call. You will spend more money than you could have imagined on prescription drugs, on physical, occupational, and speech therapy, and on gadgets designed to accommodate your child’s needs, from a ‘gum stimulator’ to a ‘sensory brush’ to ‘adaptive shoes.’ No one will pay you for any of the time wasted or money lost. There is no tax break. There are no extra vacation days. You just take the hit.
But logistical challenges are much easier to deal with than existential crises. And the existential crisis that blinded you on diagnosis day will fade away as you learn that you can in fact continue to exist. You will no longer ask, ‘How can I go on?’ but, ‘Where is the nearest 24-hour pharmacy that has Clobazam in stock?’
As you will discover, there is a singular power to facing an experience you initially assumed would ruin you and finding out that it has not done so. It is possible to imagine worse setbacks, of course—death comes to mind, and oh, it will—but many of the things you once considered devastating will no longer look that way. No layoff or relationship trouble could feel so bad, to say nothing of a workplace gripe, traffic delay, or rude email. Recognize and channel this imperturbability. It is your new superpower.
This is not to say that you can just sit back and let time heal everything. Be proactive. Get therapy, even if you once thought it was a little wimpy. Exercise, even if you don’t feel like it. Socialize, even if that is the last thing you want to do. Stay connected to others, especially your partner. A stressor like this can tear you and your spouse apart. Know that risk, talk about it, and promise each other to do everything you can to lessen it. You may even end up closer than ever.
Above all, force yourself to move forward, no matter what. You would be justified for feeling victimized; after all, you are a victim of something extremely rare and unfair. But that mentality will get you nowhere. Instead, rewrite the narrative: You are a badass. In spite of being dealt a blow that could have knocked you down, you persevered, and you continue to persevere every day. You have rescued yourself from distress and are all the stronger for it. You now recognize humanity in all its forms. You are a different, better person.
You don’t, however, have to change everything about who you are. The disorder has robbed you of many things, but your identity need not be one of them. Some parents find solace and connection in the community organized around their child’s rare disease. But doing so is not a requirement. The T-shirts, the fundraising bike rides, the Facebook groups—all are discretionary. Feel no guilt if you opt out. You are taking care of your child, and that is enough.
It’s OK, too, to outsource the medicine to the doctors. You can leave it to them to develop opinions about competing drugs or stay on top of the literature about the latest trials.
Keep pursuing the dreams your old self had. Finish the book. Make the paintings. As much as possible, do the family activities you always imagined you would. Lugging a non-toddling toddler aboard her grandparents’ motorboat is hard work. But it is worth it for the memory, and for the sense that you have done with your daughter one of the things you wanted to do with her before you knew she was different.
Don’t bother thinking long-term. Where will she go to school? Will she have friends? What will she be like as a teenager? What will we do when we retire? Who will take care of her when we die? These are problems for another time. Your job is to get through the day, the week, maybe the month. You can’t predict what challenges will arise or how you will solve them, but you can predict with reasonable certainty that your future self will draw on the same resilience and competence that got you this far.
You can handle more than you could have ever imagined. On that note, I have one more piece of advice for you. It is almost presumptuous and certainly not applicable to all, yet it was immeasurably valuable for me to hear as a first-time parent: If you can, have another child. He will renew your anxiety around infancy, complicate your life, and stretch you even thinner. But he will be proof of hope.
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