And then, there were three.

"Love recognizes no barriers. It jumps hurdles, leaps fences, penetrates walls to arrive at its destination full of hope." - Maya Angelou

I’ve been grappling with how to begin this for days. How much is appropriate to share with all of you? Is this even something anyone would care to hear about or need to know? Is it better to keep this private? 

If you’re here because you follow me on social media, I just want to start by saying: thank you for following me over to an entirely different platform and thank you for caring. I hope you know that one of the main reasons we decided to share this with you is because you have been so supportive of both Logan and me in both our professional and personal spheres. So, we felt it only fitting to share with you the all-encompassing and difficult journey we now find ourselves on. It is also, without a shadow of a doubt, our greatest triumph to date. 

So let’s start at the beginning. 

In mid-November, I came home from a normal day of morning reporting and thought to myself: “Wow, I really could NOT stomach my string cheese today.”

If you know me, you know: I LOVE string cheese. 

Sure enough, two pink lines on a Clear Blue test confirmed my suspicions and my excitement. Holy sh** I thought. Biology works!

If you’ve ever been pregnant you know what comes next. Aside from the unrelenting gag reflex, there’s also a ton of anxiety. It’s this anticipatory waiting period between the time you take the pregnancy test (most likely sometime between 4-6 weeks if you’re dutifully tracking like I was) and the first appointment at your doctor’s office where you confirm both your pregnancy and the viability of that pregnancy.  

Thankfully, our ten-week appointment knocked out most of my first trimester neurotics. There it was: a small little blob connected to a bigger blob had somehow begun to grow nubby arm and leg blobs. And they were without a doubt the most magical blobs I ever did see. I excitedly pinned the 3D photo of this extraterrestrial being to our fridge.

We soon learned little blob was a boy. We couldn't wait to share, so we excitedly FaceTimed our parents and siblings donning the first blue things we could find in our room at 9 PM on a weeknight. Gender reveals be damned. 

It was also in this ten-week period that I elected to do a genetic carrier screening for diseases commonly associated with Ashkenazi Jewish descent. One thing to watch for in this particular population is Tay Sachs Disease, which is a rare degenerative disease that destroys brain cells and eventually leads to early childhood death. Though I knew my Jewish lineage didn’t have this (as far as we knew,) I wanted to be sure there wasn’t anything else hiding in the dark. 

The option to do these carrier screenings was presented to me at my annual OBGYN appointment when I told her that we were going to *give it the old college try* here soon. It’s the first time since I’ve been of “child-bearing years” that I have ever been told about/offered genetic screenings for family planning purposes. 

The joke was on us though, because just two days later I called my OB office to tell them I had taken a series (ok, several series— if I’m coming clean here — two full boxes) of positive pregnancy tests. I am if nothing else a dogged confirmer of information. 

We were told, “no problem, the screenings can go in tandem with the first couple of pregnancy appointments.” So at 10 weeks, I did all the blood tests. 

The NIPT screening, which tests for the likelihood of common chromosomal abnormalities like Down Syndrome, Edwards Syndrome and Patau Syndrome, came back as “low risk.” It’s the first big hurdle. I remember crying big Kim K tears of relief as I read those words. I knew measurements on anatomy scans would confirm those findings to come, but it was a huge early tally in the win column.

Just a couple weeks later, my Ashkenazi panel came back with an unexpected ping. Out of 106 diseases, I came back as negative for 105. Positive for one.

Up at the top of the report it reads: “POSITIVE CARRIER for Glycogen Storage Disease, Type 2 (Pompe Disease)” 

My stomach drops. I’m googling like the rabid journalist I am.

What in the actual flying $&^% is Pompe disease? And should I freak out now or now? 

I truly believe that lack of information is the ultimate catalyst for fear.

At our twelve-week appointment, one of the nurse practitioners answers my questions. She tells me there’s nothing to worry about unless Logan also carries the mutation. If he was to carry it, she told me, that would mean our child has a 1 in 4 chance of having the disease. We quickly write it off and assume: “no way we both carry the same random rare disease.” But, we have him do the test just in case.

And just like that, within the span of a two minute call on a Monday morning just a few weeks later, crippling fear replaced what had become a healthy level of generalized anxiety…. and it flooded our pregnancy.  

Not only did we find out that Logan carries a genetic mutation for Pompe disease, but we found out that he carries the exact same mutation that I do. Logan and I are both positive carriers for the pathogenic variant.

That meant our currently budding child now had a 1 in 4 chance of having the disease that we both had no idea we even carried. We thought: “what are the freaking odds?”

Things happened fast. I was quickly referred to Maternal Fetal Medicine at Brigham and Women’s for an amniocentesis. Within 24 hours we were meeting with a genetic counselor just an hour ahead of my procedure. 

Little sidebar, because I just think this deserves a moment of recognition: the amnio is an invasive procedure where a team of doctors uses ultrasound guidance to pull amniotic fluid from the uterus to look at the baby’s genetics. Yes, it’s a nice long needle, and yes, you’re awake and there’s no anesthetic. Apparently the needle to numb you is almost as long as the needle with which to poke you. So, thankfully for me, I was allowed a baby dose of Lorazepam to calm my crazy and my Mom and Dad were there to hold my hands. This is an entirely separate story that deserves its own moment — but they just so happened to be in town when all of this went down. I worried endlessly about the small baby a team of doctors was dodging with this skewer of a probe. 

Then, we sat in what felt like a personal mental waiting room for almost 2 weeks. 

I’m still learning the jargon and the wording, so for now I’ll do my best to make it as reader friendly as possible for all of us to digest to the best of my current understanding. Here’s some science as explained by… me. So. Buckle up.

Our mutation is on a gene that makes an enzyme to work inside our body’s cellular “recycling centers,” if you will, to convert complex sugar into simple sugar for those muscles to use. 

With Pompe Disease, this important enzyme is either completely eliminated or limited which results in toxic buildups of complex sugar in the muscles. 

There are two forms of Pompe: early onset (also known as infantile) which is caused by the complete or near complete deficiency of that gene, and late onset, which is a partial deficiency. The mutation Logan and I both carry is for the latter.

On a Friday night, as I got out of the shower just shy of 18 weeks pregnant, I saw that I had missed a phone call from our genetic counselor. “Your results are way ahead of when we thought we would get them,” she said in her voicemail. “Call me tonight if you want them ahead of the weekend.”

I waited anxiously for Logan to walk in the door. I was still in my bathrobe as we dialed. 

“Baby has both copies,” she gently told us. “Which means he’s positive.” 

I don’t remember much about how we spent that night, except that we experienced all the emotions, all in tandem, and all in the quiet vacuum of our living room. A couple calls to immediate family. But mostly — silence.

Since then, it’s felt like the world’s steepest emotional cliff dive bungee jump. It’s one we’ve navigated while working our jobs usually as ships passing in the night. On the bungee back up, we excitedly talk about our growing baby boy. And on the free fall down, we spiral into wondering what it would be like to potentially outlive our own child. 

I know some might take issue with that last sentence. Why even write down such a terrifying, life-altering thought? The only answer I have for you is this: 

Because it is the truth.

Because clarity, information and knowledge are all healing entities.

Because it is a reality that we must invite to the dinner table of our marriage to bring this child into our world. 

Because acknowledging our fears is the only way for us to live with them in synchronicity. 

Because thoughts left in the dark never stay there. 

The only thing we can do is take those fears, pop those suckers in the backseat and drive them straight into the light. 

Almost a week after that call, we went for our scheduled 18-20 week anatomy scan. 

I had been a ball of anxiety and nerves all week. Worried something from the amnio had disrupted him… terrified that this would be the appointment they told me it just “wasn’t going to work out.” My long-lasting, residual fear that has followed me since the beginning of this entire experience.

But as the screen illuminated with button-nose profile images of our beautiful growing baby boy, he performed the miraculous in that he gave us the ordinary. He rolled and flipped. He waved two perfect sets of 5 fingers. He reached a hand behind his head, kicking and crossing his tiny little legs that show all indications of every single toe. He somersaulted his way to reassuring us that he is, in fact, going to be setting up shop here for a while.

There’s nothing about Pompe you can see on an ultrasound. It’s a cellular level disease. He looks perfectly healthy and perfectly typically forming. Which – until we see otherwise – is exactly how we understand he will be. He is living up to the mantra I’ve been speaking into his (and my) existence ever since we got the first call. “You are perfect. You are strong. You are divinely made.” I speak it out loud to him over and over, knowing that with repetition it becomes the definition of our coexistence.

So now, we plan. 

We can create his nursery while simultaneously making our first exploratory appointments at Boston Children’s Hospital. We will allow our family and friends to shower us while we talk to experts about the likelihood of each scenario we could encounter once he’s born. We are excitedly preparing for our first child while steeling ourselves against the fact that this is not how we expected any of this to go. We keep not-so-jokingly (but with a smile) saying we’re still in the “what the f*** just happened” phase.

We are living in the ultimate juxtaposition. A delicate duel of fear and trepidation versus the reverence of a Gd-given gift.

One of my close friends knows this situation all too well. And what he said to me has been on the surface of my consciousness ever since. He said: “Do not let this steal a second of your joy. The moment you get to hold him, your world is going to change so much.” 

We don’t know when or how he could present with symptoms. It could be when he’s 1 or 2, it could be when he’s 35 or 55. It depends on a number of genetic factors that I still, quite frankly, don’t fully understand. We don’t know what it will mean for his life. I guess we truly don’t know what will come for any of our children’s lives.

But we do know this: Gd is working when we don’t understand the reasons. So we will let go and allow ourselves be guided.

Among a series of unknowns, we do know this. We are committed to giving this child, whatever his reality will be when he joins us earth-side, every fighting chance he deserves. We also know that we cannot wait to meet him. We are already so in love. Literally and figuratively filling us from the inside out.

As we say in my business: we’ll keep you updated as we gather more information.

Thank you for the love. Thank you for the support. We feel every one of your prayers. If you want to follow along, you can subscribe and I’ll share more updates to come.