Sunday, February 4, 2018

Searching for a Diagnosis

Yesterday I scheduled an appointment for an MRI of Ezra's brain... which isn't something I ever expected to do for my 15 month old. I also set up an appointment with a geneticist because Ezra might need a skin biopsy.

I hesitate to talk about his delays because there are much more important things about Ezra than when he'll learn to walk or if he can chew and swallow without gagging, but sometimes labels are helpful. But I realize I'm giving you the middle of the story without first giving you the beginning, so let me catch you up.

Before Ezra was even born, we had concerns about him. I had gestational hypertension and low fluid levels during my pregnancy so I was induced early. Not crazy early. He was 38 weeks. But, goodness, was he tiny. Ezra weighed only 5.10 pounds and he didn't gain much afterwards. I spent the first 2 months of his life doing little else besides nursing him. When he was 2 months old, we found out that he was in the negative 25th percentile. 25 percent below 0. He was immediately put on formula and chunked up quickly which was miraculous for my malnourished baby.

After that, it seems like we encountered a new quirk every month or so.

For starters, he has hyper-pigmentation all over his body. When I held him for the first time, I was so startled by the line running up his stomach that I thought the nurses had cut his belly. His little body is covered in tan whorls and stripes... we call them his "racing stripes".

He also has frontal bossing which just means that his skull is a bit misshapen and his forehead protrudes further than it should. Fortunately, Ezra's frontal bossing isn't very obvious. In this photo, you can kiiinda see how his forehead sticks out over his eyebrows.

Thirdly, He had low muscle tone until he was 7 months old. Physical therapy has been helping him greatly.

The fourth not-particularly-alarming-but-should-still-be-mentioned quirk is that he had extremely tight trunk and hip muscles as a newborn. His hips were so rigid and stiff that I couldn't put him into a baby carrier. His legs barely opened. I physically couldn't get his itty bitty, tight body into a baby carrier.

He has a Global Developmental Delay and Sensory Processing Disorder. The latter I didn't put much stock in until having a child with SPD. Let me tell you, when you have a child who would rather starve than let any "questionable" food go into their mouth, you realize that not all parents are crazy or looking for a cop-out for their picky kids.

And lastly, he was born with cupped fingernail and the cutest, most kissable overlapping toes.

So we knew about all of these little "quirks", but we didn't think much of them. Ezra was just... Ezra. He just happened to have hit the jackpot for random, nonthreatening medical conditions, right?

At Ezra's 12 month check up, his pediatrician caught me off guard when she said, "I don't think Ezra has just a developmental delay and sensory issues. I'm pretty sure there's something bigger going on that's causing his delays, his issues, his mild deformities. Ezra might have a genetic disorder. I'm not sure what disorder, but I think you need to meet with a specialist." Not what I was expecting to hear when I walked into the doctor's office that day.

We were sent to a developmental pediatrician and his opinion was the same as Ezra's pediatrician; he's pretty sure our son has a genetic disorder but he didn't know which one.

If I'm honest... I sometimes feel like this is all very unnecessary. Why put my son under anesthesia to get an MRI done? Why drive 4 hours away for a skin biopsy and more genetic testing? Why make my sweet boy go through this craziness when I'm perfectly happy with who he is? His delays and quirks don't bother me. I'm endeared to his individuality. He's one of a kind and I wouldn't have him any other way. But I want to give him the best future possible and help him however he needs help... and to do that, we need to figure out what exactly we're dealing with.

But I'm tired of playing Dr. Google and self-diagnosing my son. So if we find out that he has a genetic disorder, then we'll tailor his care, therapies, expectations, and education towards that. And if we find out that he doesn't, then we'll continue working to get him caught up with his peers.

In the meantime, I'll be over here thanking God for giving me such a silly, snuggly, unique son and loving on him every step of the way.

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