The Diagnosis

Hey, Chief Moms. It's AB. I'm on a walk.

I'm overdue for this story. I promised it March 26th. It is now April 3rd. But life happens — and lately, life has been full in the best way, personally, at work, and with Chief Moms. We've had some beautiful stories come into the archive from women who have been holding them for a long time, and giving space to those felt more important than keeping to my own deadline.

I also just found out that Chief Moms has been accepted to participate in the Moms 2.0 Summit here in Austin at the end of April — where Dr. Becky Kennedy is the keynote speaker.

So needless to say, between a full-time job, two kids, and The Archive beginning to take shape — I've been a little busy.

And to be completely honest, telling Ernie's diagnosis story is one that still punches me in the gut. Hurts me in my heart. And somehow stops my brain from being able to get the words out — from being able to think through it again, in that depth. About what happened. About what I learned so quickly, and what I had to become an expert in so quickly.

I am someone who would ace a test because I would spend the 48 hours before preparing — becoming an expert in everything I needed to know — and then a week later, the information would no longer exist in my brain.

Gone. Finito.

That's why we shouldn't wait until the last minute to do our knowledge acquisition.

Anyway. Ernie's diagnosis — and the learning I had to do in order to prepare for it — felt a lot like a college exam. Get all the information you need into your head. And then release it.

And the reason I released all the information about Ernie's diagnosis as quickly as I did is because I actually didn't want to carry it with me.

Because my guiding principle through all of this was Ernie.

Is Ernie.

He is mine. And I don't want to know him by a syndrome — nor do I want any of you to know him by one. I refuse to let him live a life where we make exceptions for him based on his differences. We have always given him grace in the areas where he needs grace, of course. But our mission has been to give him as normal and as happy a life as possible.

And we're doing a good job at achieving that.

So anyway. Gorlin syndrome.

You just heard me say it. Gorlin syndrome.

Before I get into the syndrome itself, I want to share what it felt like in the lead up to the diagnosis.

Want to know my number one most played song on Spotify in 2021? For anyone who knows my music taste, this one will surprise you.

Fight Song. Rachel Platten.

I just paused from telling this story to blast it and sing it loudly from the depths of my chest on a side street in a quiet neighborhood in Austin.

Damn, it still feels good.

For the sake of my neighbors, I'm going to stop singing and get back to the story. But I want you to know — I don't know anyone else who was listening to Rachel Platten. I've never listened to any of her other songs. I couldn't tell you what she looks like. I don't know how I even found it. I think it found me, in a Spotify daily playlist.

Fight Song became my personal anthem.

The only people who knew I was listening to it were the kids, who allowed me to indulge myself and sing it loudly and passionately on the way to daycare drop-off in the mornings.

It gave me permission to feel like I was in a fight — because I was, but mostly against myself. People around me could see I was struggling, but no one really knew how to help me. I felt like a prisoner in my own brain for a long time.

Of course, I had help from therapists, family, Jonny, and friends. But the true scale of the heartache — really only me and Spotify knew.

Because the number of times I listened to Fight Song in the year leading up to the diagnosis would tell you everything you need to know.

So Dr. Dinulos called.

She left a voicemail saying they had exciting news. They had found something — based on the genetic testing, the additional testing we had done on me, on Jonny, a deep dive into Ernie's — and using all of the evidence they had gathered from his physical differences at birth.

They had found the answer.

We had a call scheduled, and I'll never forget it.

I told Jonny I would take it solo.

I took the call on a walk.

Maybe this whole walking-and-talking thing is really the through line for how I'm able to receive and process difficult information.

Dr. Dinulos called and she said: Are you sitting down?

I said: No. I'm actually on a walk. I'm standing across from a horse pasture. I have two horses in my view that make me feel really calm.

I'm ready. Let's go.

She told me that Ernie had Gorlin syndrome.

And the first thing I did — as she's talking, telling me about it — was Google it.

Upon the first 30 seconds of scrolling, I was already scared shitless. And already judging myself. Because the first thing Google tells you is that Gorlin syndrome is inherited.

One of the reasons I was terrified about finding out the diagnosis was that they were going to do genetic testing on me and on Jonny. And I was scared to death that the results would put a wedge between us.

I was so scared it was going to be my genes that caused it.

Scared that Ernie turned out the way he did because of me. Because of my family's genetic history.

And I was also scared to fucking death that it was going to be Jonny's.

Not that the result would have made me love him any less. Or resent him in any way. But if it was one of us — versus something that had simply happened — it felt like the team was going to be divided. And I didn't want anything to change the dynamic of how Jonny and I were approaching this, together.

80% of Gorlin syndrome cases are indeed inherited.

Roughly 20% are not. They're sporadic.

Ernie's was sporadic.

I'm trying to tell you this story while walking a dog.

And crying.

My nose is running. I have no tissue, just the sleeve of my shirt. Bear with me while we work through this one.

What made naming the diagnosis so difficult was that everything Dr. Dinulos described — the full picture of what Gorlin syndrome actually meant — was new. She was naming things we had never heard of, never considered. It all landed like a door opening into a room I didn't know existed, and that I quickly wished I could shut.

Before the call, we knew about all the things I've already shared. We also knew about a cyst. A posterior fossa cyst — a small, fluid-filled sac at the back of his brain, present since birth. Benign, but monitored closely to ensure it stayed that way. MRIs every three months, then every six months. It never changed. Over time, it was quietly moved down the list. Not gone. Just deprioritized, the way certain fears become background noise when louder ones arrive.

Gorlin syndrome — formally known as Nevoid Basal Cell Carcinoma Syndrome, caused by a mutation in the PTCH1 gene on chromosome 9, which I call Patch One because that's how my brain reads those letters — is a rare genetic disorder that is autosomal dominant, meaning in most cases it's inherited from one affected parent. It significantly elevates the risk of developing multiple basal cell carcinomas, odontogenic keratocysts in the jaw, and other tumors — including, in children, a type of brain tumor called medulloblastoma.

In other words: the syndrome wasn't just about what Ernie had.

It was about what Ernie might get.

And I shit myself.

Because the Fight Song I'd been listening to on repeat — I was going to have to keep listening to it for a very long time.

Most people with Gorlin syndrome aren't diagnosed until their teens or early twenties, when the major criteria begin to emerge — basal cell carcinomas, jaw cysts, small pitted indentations on the palms of the hands and soles of the feet. Sometimes calcification between the two halves of the brain. Sometimes rib anomalies. These are the features that define the syndrome clinically. The ones that demand lifelong vigilance.

And then there was Ernie's side of the ledger.

The cleft lip. The cleft palate. The polydactyly — twelve toes, ten and a half fingers. Macrocephaly. A slightly protruding forehead. The posterior fossa cyst. All of those, when taken together, make up the minor criteria required to confirm a Gorlin syndrome diagnosis alongside the PTCH1 gene mutation.

The minor criteria.

The major criteria — the basal cell carcinomas, the jaw cysts, the palmar pits — Ernie didn't have.

Not yet.

If anyone is near wood, please knock on it.

I told you how I learned everything and then released it. But now, giving myself the space to actually remember — my subconscious is pulling up words I still don't know how to pronounce correctly. The body does indeed keep the score.

This is when my friend and Ernie's extraordinary surgeon, Dr. Shin, held me together. I met with him after receiving the call from Dr. Dinulos. I don't usually choose to use the word extraordinary — but I make exceptions for Dr. Shin.

He said: "Don't worry about what the future will bring. All of us parents have to worry about what the future will bring. There's a lot about Ernie's case that's unique. Maybe you don't ever have to worry about the jaw cysts. Maybe he never develops the pitting in his palms. Maybe he never has skin cancer. Focus on what you know. And let's go from there."

And Dr. Dinulos echoed what she had always said as she guided us toward uncovering the truth:

"All we have to do is face the facts. And once we know the facts, we will be able to take care of your little guy with the best care in the world."

She began immediately talking about levers we could start pulling that same day. SPF clothing. Sunscreen applied every morning, regardless of season.

Even in Vermont.

After that call, Ernie looked like a snowman for about three months. The kid was covered head to toe. You couldn't see his skin.

We still apply it every day. A rational amount now, not an emotional one.

After the diagnosis, we kicked everything into high gear — monitoring additional parts of his case to ensure nothing was appearing unnoticed. A lot of time with neuro. The MRIs. A lot of time with dermatology.

Every time we go to dermatology, they are always impressed by how beautiful his skin is. No signs of anything.

The early diagnosis is a blessing. It has allowed us to protect him — hopefully — in the areas where he's most at risk.

And then there are the things that weigh on me.

Not keeping me up at night — maybe that's not fair to say. Perhaps they just sit with me during every waking hour.

Ernie had his cleft lip and cleft palate surgery. He still has a hole in the top of his mouth. It impairs his speech. Think about every sound that requires your tongue to touch the roof of your mouth. Those are the sounds that are distorted for Ernie. Every single one.

Before we can have his next surgery — due anytime between now and age seven — his speech pathologist wants his language closer to where it needs to be. So we wait. That surgery fills the hole. The one after that is bigger: a bone transplant, taking a piece of bone from his leg and putting it into his mouth.

Those surgeries are not the ones I'm scared about anymore. They're more straightforward than the initial palate repair. What scares me is everything that surrounds them.

His teeth are not okay. They line together like an overlapping arc — two crossing over — invisible from the outside. His lips, on the other hand, look nearly perfect. When you meet him, you wouldn't know he'd had a cleft lip. Not clearly, the way you do with other kids.

Dr. Shin calls Ernie his Sistine Chapel.

I would agree.

But I'd be lying if I said I wasn't scared about the next round of surgeries, and the speech support, and the orthodontic road ahead. I worry about the time outside of school, the recoveries, the appointments that never seem to end. I worry about his worry leading up to all of it.

And I worry about my own — because it is my job to never let Ernie see a single one of them. That level of acting takes a toll.

There's a lot to Ernie's diagnosis. To the worries we had, the worries we have, and the worries we will carry. To what we once monitored, and to what we monitor now. It's a syndrome that feels dynamic rather than fixed — which is particularly difficult for someone whose brain prefers things in black and white.

And to this day, one of the hardest things to navigate is what other people say.

Please take this note.

"It's just cosmetic, right? Like, a cleft lip and cleft palate — they can fix that. That's no big deal."

It's not that straightforward. There are other things going on.

"Yeah, but he's fine, right? Cognitively he's doing well? He doesn't have an intellectual disability?"

When I was receiving this question the most, he wasn't even two. I'd confirm he was doing amazingly. But do any of us really know the full picture at age two? Do any of us really know the full picture of ourselves at 40?

Imagine being asked to assess your child's intellect — sometimes at a dinner party, sometimes in the aisle of a grocery store — while you're still trying to hold yourself together.

I think he's brilliant.

Because he is.

And what I hold onto every day is this: all of Ernie's differences — and the teams supporting him, clinically, privately, and at school — are giving him something many children never get.

Attention.

Real, sustained, caring attention.

Because his syndrome has many layers, the infrastructure behind it is held together by many players. I wish you could see my phone log on a weekly basis, even now, five years later.

Some days I wish I could change my number.

When we decided to leave Vermont, it was a really, really hard decision for a lot of reasons. I grew up there. We made a beautiful life there. Jonny and I rebuilt a home we loved. We had a cabin on a lake, 30 minutes away, where I cannonballed my worries away on weekends. We had the most beautiful network of friends who became family — along with our actual family. My sister, my brother, their kids. We had all the love we needed to feel supported, held, and seen.

But do you know what we didn't have?

A hospital close by. A shitload of different specialists close by.

The other week, we went to a craniofacial appointment at Dell Children's, where Ernie's care now lives. The appointment was at 8 a.m. We left the house at 7:30 in rush hour, and Ernie was back in his classroom by 9. If we were still in Vermont, after an hour and a half of driving we'd still have ten minutes to go — and that's just one way.

No one saw the tax that Vermont was taking on us. All those trips to Dartmouth. While maintaining full-time jobs. While having to explain to everyone I worked with that no, it wasn't just a cleft lip and a cleft palate. This was a little guy who requires intensive, ongoing care from so many different providers.

Today we are grateful to be living somewhere with one of the best-rated children's health systems in the country — and all of their trusted network of specialists — within a 20-minute drive.

We miss Vermont. Of course we do. We miss Dartmouth too.

But most importantly — Ernie is thriving.

So is his sister, Milly.

So are Jonny and I.

And that's why you're hearing these stories now, versus three years ago.

I didn't have the strength to tell them then.

I have the strength to tell them now.

I've started going to church again. It feels good. I see it as the time I take for myself to be still — to meditate, in my own way. Take what you want from it, leave what you don't. But most importantly, it's where I show up and sing that fight song to myself. Just hymns turned into folk music. Welcome to church life in Austin.

That's the story of the diagnosis.

The next story is The Restoration and Resurrection. It will be difficult to tell without laughing and crying at the same time — because we were literally reconstructing a house at the same time as we were reconstructing our son.

You can't make this stuff up.

And the resurrection that comes after was waking up one day and saying:

I want to live again.

I want to be whole again.

I want to feel like I own my time — just a little bit more.

I want to make sure that in all the circumstances we've been given — we're building a life that makes them as easy as possible to navigate.

And we're doing it.

Thanks for listening. For watching. For tuning in.

More to come.

Have a good night, y'all.

As they say in Texas.

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