Sunday, February 4, 2018

Searching for a Diagnosis

Yesterday I scheduled an appointment for an MRI of Ezra's brain... which is not something I ever expected to do for my 15 month old. I also set up an appointment with a geneticist at UAB where Ezra will undergo genetic testing and might even receive a skin biopsy.

"Holy cow, how did you get there, Mary?" I know. I gave you the middle of the story without first giving you the beginning. Let me jump back a bit and I'll get you caught up on how I found myself making these unnerving specialist appointments for my son.

This might be news to you since I rarely share about Ezra's medical concerns, but I've thought of little else for the past 8 months. Shoot, even before Ezra was born we had concerns about him. To start with, I had gestational hypertension and low fluid levels during my pregnancy which caused me to be induced early. After that, Ezra failed to thrive until formula finally chunked him up around 16 weeks old. Somehow his pediatrician missed it early on, but we found out around his first birthday that he has both a lip tie and a tongue tie... no wonder he had such a hard time nursing!

From then on, it seems like we encounter a new - usually unalarming - quirk every month or so. In fact, sweet Ezra has a laundry list of "quirks".

1. 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"!

2. He 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 at first glance. In this photo, though, you can clearly see how far his forehead sticks out over his eyebrows.

3. He had low muscle tone until he was 7 months old.

4. He had such tight trunk and hip muscles as a newborn that I couldn't put him in a baby carrier. Let me rephrase. His legs barely opened. I physically couldn't put him into a baby carrier until he was four months old because his hips were so tight.

5. He's been diagnosed with Global Developmental Delay and Sensory Processing Disorder.

6. He was born with overlapping toes.

7. He has cupped fingernails.

8. And he has a rather large (adorable, fuzzy) head.

He's been going to weekly physical therapy since he was 6 months old, food therapy since he was 10 months old, and speech therapy since he was 14 months old. This is a side note, but pre-Ezra, I thought that it was ridiculous for a baby to be in speech therapy ("Just let them be, they're little, it'll all come out in the wash!") or that food therapy was just a crutch that lazy parents used ("Haven't they ever heard of teaching their children obedience? If their kid refuses to eat what's served then they should let them go without dinner.")... then God gave me the most precious little son who didn't know how to bite or chew, gagged on everything that went into his mouth, had ZERO appetite and would let himself starve if I didn't force him to eat, and couldn't - still can't - figure out a sippy cup. Yes, Ezra required months of teaching to learn how to chew his food and he's still often unsure about biting with his front teeth.

Okay, side note finished. Back to his quirks. 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 exactly what I was expecting to hear when I walked into the pediatrician's office that day.

We were sent to a developmental pediatrician who played puzzles and games with Ezra and asked Auston and I dozens of questions.

"Does he look at objects weirdly? Does he babble? Does he copy you? Does he put toys into containers? Does try to walk? Does he? Does he? Does he?"

His opinion was the same as Ezra's pediatrician; he's pretty sure our son has a genetic disorder but he doesn'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 blood tests? 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 that's great! We can tailor his care, therapies, expectations, and education towards that. And if we find out that he doesn't, then that's even better! We'll keep working to get him caught up with his peers.

So if you need me, 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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