On Thursday, Theo and I set to meet a brand-new doctor.
I wasn't nervous about the doctor, per se—I was nervous about why we were going. With three kids who each came with their own unique set of instructions, meeting a specialist is old hat. Between my trio, I’ve collected specialists like Pokémon cards. We’re talking roughly twenty to thirty of them: a pediatrician, a brain surgeon (super fun), a urologist (also a blast), two psychiatrists, two ENTs, an ophthalmologist, two endocrinologists, radiologists, an orthopedist, two dermatologists, geneticists, phlebotomists, pulmonologists, two SEITs, and a revolving door of physical, speech, and occupational therapists.
I was praying this visit would follow the usual script: high stress, way too much driving, and ultimately a massive sigh of relief.
Early on, every medical curveball sent me into a frozen panic. Where do I start? Who takes our insurance (a brain-melting puzzle in itself)? Where do I drive (always three towns further than makes sense)? How do I tackle the five hundred micro-tasks that follow?
Take Cole. At a few months old, he had a slightly misshapen head—though honestly, any of us would after being wedged in my carrot-shaped body for nine months. At a routine checkup, our pediatrician lingered a beat too long on his head circumference.
“Let me see your head,” she said, catching me off guard.
She examined mine, examined Mark’s, and paused. “I’d like him to see Dr. Smith, a pediatric cranial surgeon. Don’t panic,” she added. (Too late.) “I’m concerned his skull bones fused prematurely.”
My brain short-circuited right around “prematurely fused.”
Being our firstborn, Cole’s situation threw me into full survival mode—numbly battling insurance, booking the appointment, and sitting in silent dread next to his car seat the entire drive. Dr. Smith was pleasant enough, but his office—riddled with decorative skulls—was deeply unsettling. After explaining that human skulls fuse over time like a reverse Pangea, he had Mark hold Cole while he pressed into his head, manipulating his bones like a twisted Rubik’s Cube.
Cole slept through the entire thing, blissfully unaware that I was actively fighting the maternal urge to assault a medical professional.
Finally, Dr. Smith sat back. “Good news and bad news. Good news: Cole doesn’t need surgery. Bad news: I don’t get to perform surgery.” He chuckled, leaving me in silent shock. One minute we were worrying about a slightly lopsided head, and the next we were dodging brain surgery, learning his skull would fix itself, and handing over a copay on the way out.
Welcome to pediatric specialty care, where most of our scariest moments turn out to be much ado about nothing. Like the time an orthopedist suspected Theo had bone lesions, leading to a traumatizing, sedated MRI, only to casually announce: “His hips are fine! Sorry for the alarm!”
I get it—doctors are doing their due diligence. But the legwork, mileage, and mental wear-and-tear take a heavy toll before you ever reach the other side. Which brings me back to Thursday. We were headed to this new appointment because of a mystery that actually started years ago, back when my younger two boys were babes.
When Ethan and Theo were born, both presented with tiny, hidden bumps under their skin. I first felt them along Ethan’s spine after a bottle. A dermatologist biopsied the patch, revealing calcium deposits, or Calcinosis Cutis. Because this can signal hormone or mineral irregularities, we were sent to an endocrinologist. She ordered a blood panel and hand X-rays to rule out Albright Syndrome—a rare genetic condition that, frankly, can be a total clusterfuck.
The tests came back clear, but she wanted to keep an eye on him. A year later, Theo was born with identical bumps, but I didn't stress too much given how things had panned out with Ethan.
Then came Ethan’s three-year checkup.
“He only grew three-quarters of an inch this year,” his doctor noted. “I want you to see Genetics to rule out short stature.”
Defensive, I pushed back: I’m short. My mom is short. He’s always been a peanut!
But Dr. Mitchell, a straight shooter, held firm. “Given his delays, growth rate, and bone abnormalities, Genetics needs to run a full sequence. We don't know what we don't know.”
I called immediately. The receptionist offered a date in deep winter (it was September), and the test results took weeks. Finally, in February 2025, we got our answer: Ethan tested positive for a GNAS gene mutation associated with Albright Hereditary Osteodystrophy (AHO), or Albright's Syndrome.
In short, he inherited a mutated gene from (cough) me (cough).
AHO is a package deal that can include short stature (tiny), obesity (sturdy), brachydactyly (short fingers and toes), subcutaneous ossifications (the calcium bumps), cataracts, delays, and dental issues. Since first-degree relatives have a 50% chance of carrying the variant, we were urged to get Theo tested immediately.
When I called to book Theo, the receptionist blithely offered a waitlist. Waitlist? I thought we had VIP status—they’re brothers! Surely we could skip the line?
Nope. Eight months.
Pediatric care is a whole different reality. You practically have to sign up for a toddler program while the line is still pink on the pregnancy test. Finding early intervention therapists requires calling countless agencies, rerouting your entire life, and driving to East Bumfuck twice a week.
When Theo was finally tested, he was positive for AHO, too. While Ethan is short and slim, Theo is tall and solid, though both share the signature round face, delays, and calcium deposits. We switched endocrinologists, landed a doctor on the very brink of retirement, and were promptly handed off to a new specialist alongside a fresh bloodwork order.
Fasting for bloodwork with a five-year-old is a brutal sport. My kids believe a breakfast fairy delivers custom hot meals the second their eyes open. Theo asked for food every five minutes for two straight hours. At one point, while supervising him from my vantage point on the toilet, I saw him creep toward Ethan’s unattended plate.
I kicked the bathroom door open: “SPIT THAT OUT!”
He nearly jumped out of his skin, but the waffle was saved. Fasting intact.
Then came the lab. I’m afraid of plenty of things—heights, public speaking, flying, bridges, popping my husband’s back zits—but nothing triggers more visceral anxiety than knowing my child is about to suffer. Watching your innocent five-year-old step into the phlebotomist’s chair, blissfully unaware of the tourniquet and needle about to pierce his arm, is gut-wrenching. The moment that strap tightens and he looks up with big blue eyes full of utter betrayal... I just want to cry and pull him into my lap.
When I was little, I remember thinking my parents had it made. They didn’t have to go to school, take tests, or do homework. I never went with them to doctor appointments, so I assumed they were skating through life scot-free. I envied their seemingly simple routine of drop-off and pick-up.
What kids don't realize—and what I only grasp now as a mother—is that adults aren't sitting around picking their noses all day. Parents are managing appointments, cooking meals, placing the phone calls, paying the bills, and quietly watching YouTube tutorials at midnight on how to explain new math or bake a tuna-shaped birthday cake.
Watching your child get blood drawn, go under sedation, or even scrape a knee isn't easier just because you're the adult. In fact, it’s ten times worse. We feel every ounce of their anxiety, fear, and pain, doubled by the heartbreaking realization that we can't take it on for them. We are completely helpless, and that is the hardest part of parenting.
My husband handles it better. He held Cole during the skull manipulation; he held Theo down for MRI sedation while I sobbed in the corner. When I asked him how he stayed so calm, he said something that stuck with me: “I can handle my own discomfort knowing we’re doing what’s best for them. But you freaking out only tells them they should be freaking out.”
He was right. Doing hard things—and walking our kids through hard things—is the job. As a recovering people-pleaser, I’ve learned that uncomfortable moments are necessary. To quote Dolly Parton: “If you want the rainbow, you’ve got to put up with the rain.”
So this week, we put on our brave faces, drove four towns over, met our new specialist, got another order for bloodwork and began our journey through the rain together.
