The Road to Diagnosis: Jump Into Genetics

Let me just tell you something. You never sit through a high school science class thinking that you’ll someday have a child who requires extensive genetic testing. If I had known, trust me, I would have paid a lot more attention. At this point in our journey I could tell you the most basic of the basic facts: amino acids are the building blocks of a protein and genetic code is made up of four letters, but please don’t ask me what four letters they are. Like many other pieces of information I thought I’d never need to remember later in life, I was wrong.

Landry’s first appointment with her original geneticist was at St. John’s hospital in Springfield in October of 2019, a full three months after the referral was placed. We spent the first portion of the appointment virtually with a genetic counselor. This is where you go over extensive parental and family history, among other things, in preparation to see the doctor. It was exhausting, if I’m being honest, and there was still so much talking left to do. We then spent the next portion of the appointment with the doctor before ending in the lab having necessary labs drawn.

I was a little unprepared for how strange an appointment with a geneticist would feel. In addition to looking closely at every square inch of Landry’s body, she took several photos of her features and measurements of her head, belly, and limbs. I’m sure parts of her exam have slipped my mind by now too. But aside from all that, a geneticist is trained to look at a person and point out all of the things about their features that might be just the slightest bit off. They are trained to know the many different physical characteristics of hundreds of syndromes, disorders, and diseases. Something that we look at our child and might see as quirky or cute or unique, a geneticist might see as an indication of a specific syndrome or family of disorders. In Landry’s case, some of the things pointed out were her low set ears, small mouth, protruding tongue, and flat, wide nasal bridge (this one I had noticed since early on). Do you know what, though? A geneticist doesn’t call these things “cute” or “unique.” They are clinically referred to as dysmorphic features. Excuse me… dysmorphic?! I’m sure my thoughts were something along the lines of, “I know this is your job, lady, but this is my baby. Don’t you think you’re exaggerating a little bit here?” I mean, just look at that face…

I have since learned that many clinical terms can sound harsh to the untrained ear; I can recall a few instances when terminology has even bordered on offensive. But luckily, as my knowledge has expanded (the four letters of genetic code are A, C, G, and T, by the way), my skin has also grown thicker. I still don’t care for the term “dysmorphic features,” especially not when referring to a child in front of presumably worried or fragile parents, but I can now understand it for what it is: a medical phrase, not a determination of a child’s worth. I mean, there’s that and the simple fact that no one has ever asked my opinion on changing things up.

I think the overall consensus with the doctor that day was that our biggest concerns were low muscle tone (hypotonia) and lack of developmental skills for Landry’s chronological age. With that in mind, she ordered a standard panel for diseases that present with hypotonia. Among them were SMA (Spinal Muscular Atrophy), Myotonic Dystrophy (a type of Muscular Dystrophy), and a few other syndromes I knew nothing about. She also ran a CMA (chromosomal microarray) and a metabolic panel. We were told that results from everything should take about four weeks. However, some of the diseases in question were potentially devastating and four weeks felt more like four years. Thankfully the nurse was very thoughtful and called with each new test result rather than waiting the full time to call with them all. SMA was ruled out the most quickly and I remember feeling so incredibly grateful that day (I was standing in my room making the bed, one of those things you’ll never forget). Over the course of the next several weeks, everything else came back negative as well. We waited the longest on the results of the very-long-chain fatty acids test. This was good in that Landry wasn’t affected by anything mentioned above, of course, but unfortunate for the obvious reason that we still had no answer. I didn’t yet realize either that we had only scratched the surface of genetic testing.

In addition to bloodwork, there was an imaging component to Landry’s first round of genetic testing. Completed first was a renal sonogram; this resulted normally. We then had an echocardiogram done, which was mostly normal, but did show a mildly-dilated aorta. This has been something just followed annually by a cardiologist. The final imaging portion done was an MRI of the brain. At this point, we had seen a neurologist and had an EEG completed with normal findings. The neurologist deferred to genetics for further testing. The MRI was performed in November of 2019 (the day before Thanksgiving that year) and was Landry’s first time under anesthesia and being intubated. The MRI was completed uneventfully and the same thoughtful nurse called the same day so we would have results for our Thanksgiving weekend. They were looking for any malformations or missing pieces of Landry’s brain that would explain a developmental delay. The only findings from the original report on Landry’s MRI was something called BESS (Benign Enlargement of Subarachnoid Spaces); this was said to be of little concern and not a cause for significant developmental delay. Our neurologist later reviewed the MRI images and wrote a report of his own findings. His read, “mild atrophy nonspecific to developmental delay,” which was a fancy way of saying not enough atrophy to cause a significant delay. I later learned that these are two ways of saying the same thing. After all, for one thing to be too big (benign enlargement), something else must be too small (atrophy). Once again, this was all great news from the standpoint of Landry’s brain formation and there really was not more fitting timing than the day before Thanksgiving to learn of it. But again, we were left with no answers.

I’ve said often in this journey that, if God is trying to teach me anything through this, it’s patience. That has never been a strength of mine. I’m not exactly a perfectionist either, though; I like things done even if they’re not done to perfection. I like to cross things off the list. It’s not that I wanted to find something “wrong” with Landry; I wanted a reason for all we were dealing with. I wanted to know why an eight-month-old could barely hold her head up and why it was still such a struggle to feed her. I wanted to know why, even after getting glasses, she still didn’t seem to focus. I wanted to cross something, anything, off the list.

When I was looking back through Facebook for pictures from this time period, I came across an old post. I had recapped what I just wrote about here and said, “We’ve been in a long period of information gathering so we are looking forward to hopefully seeing all of our hard work come together soon.” It took reading that for me to realize that I really didn’t have a clue. I wish I could go back and prepare myself for some of the longest months that were still yet to come. That even after we eventually receive our diagnosis, we still won’t really have answers. I’m sure it’s for the best that we don’t know a lot of things ahead of time. There’s many things we wouldn’t do and, consequently, a lot we would miss out on. As tough as the last three months had been and the months were to come, they were filled with much joy that I would have hated to miss. More to come on that when my brain isn’t so overloaded from remembering all these terms 😉

xo -Lindsay

** I’m honored and excited that you’re here as I continue to tell the story of our road to Landry’s diagnosis and beyond. I plan to be an open book in hopes that our story can be a blessing to someone else. I absolutely welcome and will happily answer any questions about our journey or Landry’s diagnosis. If you want me to elaborate on anything at all, please just ask!