The second sticker: the world of genetics, Pompe + us.

MMM 9/1/25

I’m looking at the screen she’s pointing at in front of me and trying to compute.

“What do you mean you didn’t draw for his allergy testing?” I ask.

“I’m sorry, I misunderstood you,” she says to me. “I didn’t know you wanted to do all of the orders for his lab work today.”

I look at her, absolutely dumbfounded. I’m not understanding how she could think I would want to do SOME of the several orders of lab work under my son’s name and not all of it in one fell swoop. Why would I want to bring my 13-month-old son back to get poked again?

My head begins to spin and I am so furious. I am so mad because I have specifically put off this bloodwork appointment to gather every single order on his list of tests. CBC from his pediatrician + lead testing, CK, AST and ALT from his genetics team and a full allergy panel. Not to mention the work we are trying to do to provide a blood sample for a team of researchers in Florida. More on that in a second. But that one — unfortunately — I still have not gotten worked out.

So instead, I stare at this lab tech and ask her, “so are you telling me you don’t have enough blood to send off for all of these orders?”

She won’t look me in the eye. Fair, since I am likely giving off quietly feral energy at this point.

“I’m sorry, no,” she says. “I’ll need to draw again or you can come back another time and we can do another draw then if you think it’ll be too much to do it again today.”

I stare down at my son in my arms. He’s red-cheeked and clutching the lion sticker the other lab tech gave him after we all teamed up to pin him the first time.

I say, “I need to think.”

I weigh my options. I’ve already petted his sweaty little head and assured him we are all done. Repeatedly. So, I could honor that. I could take him home now while he’s calm and come back another time to do another poke. That’s option 1. Option 2. Get it over with now, considering we have rescheduled this twice and driven all the way here during a wake window and planned today completely around it. Not to mention we do need some confirmation about the allergy stuff ASAP.

I realize I have no actual choice.

“Nope, we need to knock this out now,” I tell her. “One more time.”

I cradle the back of my son’s head as I tell him, “I’m sorry honey, we have to do this again. But I promise, there is another sticker on the other side of this one.”

He looks at me, misty and sweaty (which he comes by honestly, considering I also sweat profusely when I cry) and not understanding what I’m saying to him in the slightest. That is — until he sees the lab tech return. Not the one who effed up the order, but the other one. The clearly more experienced one. The one who, frankly, should’ve been doing his testing from the beginning. She looks at me with a face that says “I know my colleague screwed up,” and I look at her and say, “I’d tell you it’s OK normally but it’s not ok. This is not ok.”

The welcome personal growth in all of this for me has been not apologizing for being upset. For refusing to please someone else just because that would be the non-confrontational thing to do. I stand my ground.

I lay him down and he realizes we are doing this again. That I am making him do this again.

But this time, I notice, he screams and cries but doesn’t fight us. Like he’s breaking or accepting or a combination of the two. I watch his wide open mouth, knowing that whatever side of that spectrum this moment falls on for him, I probably won’t know until he’s much older.

This is just the most recent time. But the reality is, I’ve lived this story over and over over during the course of the last year. The “we didn’t take enough” and “sorry the sample was hemolyzed you’ll have to come back for a redraw” and “we need to take him for one more test.”

I recently saw an Instagram reel of a Mom in her hospital room with her cup of coffee and her newborn, and the caption says “POV: its 6 AM, pregnancy is over, baby was delivered safely, dad got coffee, the sun is coming up and it’s your first morning together.” I sent it to my best friend, knowing she’s going to be welcoming her baby boy very, very soon.

I think a lot about those first days and I revisit our birth in my mind a lot. I think about the one-sheet briefing the team in our delivery room got on Pompe disease. The NICU team there to offer us their blessing after we delivered. How they told us he looked perfectly healthy and normal, but then hours later the nurses were quick to jump at fluid he was vomiting as a potential bowel obstruction. How our whole post-delivery hospital stay became a carousel of tests and pokes and prods. The way I never got to wake up with my son on that first morning because he was down in the NICU for monitoring. The feeling of going down to the unit to see my son and try and get him to latch, 12+ hours after his birth with a flurry of nurses buzzing over my spent shell of a body.

I need to stop here for a second and express my gratitude for Teddy’s doctors and care team. I have said it before and I’ll say it again, we are truly in the best place with the best care possible for our specific situation. Lab techs are lab techs wherever you go. Sometimes we get good ones, sometimes we don’t. It’s just like any other health system. But the things I’m about to talk about, the questions I have and the concerns I’m raising are all things that I have discussed with his care team. This is not a referendum on them and I trust them, quite literally, with my child’s life.

But I think a lot about over-medicalizing him. I worry we are creating fear and trauma where there doesn’t need to be.

For those of you who might be new around here, press pause here and go read my original Substack announcing our pregnancy. I explain how Logan and I found out that we were carriers of Pompe disease in the beginning of my second trimester — and how that very quickly turned into a Late Onset Pompe diagnosis right around the 18-week mark. I wrote this update a few weeks later. Our first 6 months of pregnancy were marked by so many unknowns, trauma and quiet grief. It was full of questions I never thought I’d have to ask myself and a complete rewriting of our values. It was the first tally on a series of things on a list that led to my career pause.

We have spent the last year following the protocol our doctors laid out for us. Every 6 months we head to our clinic appointment with genetics and metabolism to check everything: we do lab work, monitor growth/development milestones and discuss any changes. When we do that lab work, we are specifically looking at a couple biomarkers in his liver and his muscles to make sure everything is functioning properly. Every year we do a PT evaluation to make sure we are hitting all our physical milestones and developing normally. Pompe disease is a glycogen storage disease, so the first signs include muscle weakness and fatigue.

It is highly likely, based on what we know about Teddy’s particular genotype, that this will not impact him until much later in life. But, of course, the difficult part of all of this is that we can’t ever know that for sure. We can only work with what we know anecdotally, what is most probable given past cases and the latest research — and frankly — some blind faith that it’s all going to work out.

I thought maybe by the time I wrote this little year update I would have some new factoids to share. But to be perfectly honest with you, that blind faith took me fully away from the research in the past year. I read what our genetic counselor gave us pre-birth and I learned as much as I could. And when Teddy joined us, I just took a beat. I needed a second away from it all. I wanted to see what my newfound motherly instinct told me. I wanted to view him. outside of the diagnosis and outside of the threshold of what other people were telling me. And now at the year mark, I am diving back in and I can safely say I’m getting two very different takes. The difficult part of that is — the opposite takes are coming from a cluster of very smart people who know way more about this than I ever will.

There is a camp that says we are over-medicalizing him. That doing *this much* monitoring, given what we know anecdotally about his specific set of mutations, is too much and we’re just inviting a nice case of white coat syndrome and a lifetime of instilling worry.

There’s the other side of the spectrum that says what we are doing is 100% appropriate and warranted, and that this is the monitoring protocol we need to follow to make sure we have accurate sets of data in the event that something were to change. It’s the camp that’s following the current LOPD monitoring guidelines (aka our genetics team) and they’re waiting on a change to that monitoring criteria just as breathlessly as we are. Because there are so many different variants of LOPD, it’s an enormously wide spectrum for how and when a patient can present. Because of that, there’s very little nuance or subjectivity in the monitoring guidelines. Basically? We’re following the same monitoring protocol as everyone else.

And then here we are — just a couple of regular shmegular parents, trying to parse through what is best for our child.

In terms of where we go from here — we are currently working on hopping on a stem cell study in Florida. Right now we don’t have a way to effectively predict when an LOPD patient might present. All we can do is monitor those specific markers (along with any physical symptoms) for when they do. But one particular researcher we know is hoping to take a sample of kids with Teddy’s exact genetic makeup (two copies of the IVS1 variant in his GAA) and do some additional testing that may allow us to eventually monitor him less. That is — of course — the goal.

Here’s the challenge with LOPD: most people with LOPD don’t present until later in life, so it wasn’t something that was ever identified in newborns until newborn screening. Now, it pops up on the screening within the first 7 days of life. Sometimes, the testing is even so sensitive that a carrier pops up.

So now we have this cohort of kids on the front end of a disease with no symptoms and no idea for predicting when they might have them. Kids that may or may be impacted in their lifetime, with their parents weighing the pros and cons of how to monitor them. With infantile Pompe (onset under the age of 1) it’s much clearer — the treatment usually starts immediately. All we can say for certain with late onset Pompe is that it is disease that could present anytime AFTER the age of 1. It’s a hard line in the sand with a lot of certainty under the age of 1, and with almost no certainty after it. There is so much gray area.

But I noticed something on this last blood draw appointment that I hadn’t noticed before. And let me preface this with the fact that anyone who has had to hold a child down while they are getting a blood draw knows how difficult it is to feel any amount of good about that.

As I tried to butterfly tap our way into some semblance of calm, I watched his face. I kissed his sweet tear-streaked cheeks as the blood flowed and the seconds ticked by ever so slowly. I caught it for just a moment. I saw him get brave, just a little bit.

As soon as the bandaid went on, I scooped him up and he put his head on my shoulder. I leveled with him. I told him I was sorry that we had to do it again and that this time, for REAL, we were done. No more pokes today.

He sniffled once, twice, looked like he might make a quick recovery and then dissolved into tears again. We hugged and swayed and shushed. We took our time. “No rush,” I told him. “We don’t have anywhere else to be.”

And then (second time’s the charm!) we walked back over to the stickers. The lab tech offered him several that he very impolitely refused until she picked out the one he wanted.

Another lion.

With tears slowly trickling down his cheeks, he reached out and took it. With a little gummy grin he looked at me and tried to stick it on my face. It was there — in that 30 seconds — that I saw a glimmer there that I hadn’t yet noticed, because he was far too small up until this exact moment for me to see it.

Resilience.

A reminder that no matter what protocol we follow, no matter which studies we hop on or how the guidance changes going forward, the only thing we have control over right now is that we can teach him to be stronger than his fear.

We can model calm and resilience, strength and perseverance.

I cannot assure him this won’t affect him in his lifetime. As his mother, I want more than anything to be able to give him the concrete answers. It’s a discussion we have a lot right now in our household — how will we talk to him about this when he can understand? How will we talk to our future children about this? How will we go about having future children? That topic, I’ll reserve for its own essay.

We’re still working all of that out.

But right now, we dive back into the research. We face it head on and we do our best, given what we know and what we have, to make the most informed decisions we can.

ALL OF THAT TO SAY: Bravery isn’t born, it’s built — and every lion has to learn how to roar.

XO -

SB