Monday, March 5, 2018

MRI Results

Last week, we took Ezra to get an MRI of his brain. He was such a trooper waking up before the sun, driving an hour to the hospital, and waiting while Auston and I filled out paperwork and answered questions.

He refused to let go of his fun, new "toy"... the hospital bracelet. Ha!

After rousing from the anesthesia, he was upset and dizzy. Fortunately, it didn't last long. Within 15 minutes he was back to his usual, happy self. He felt so good that he ate a big breakfast of Chick-fil-A chicken minis and hash browns!

Chick-fil-A makes everyone happy, right?

Maybe it was wishful thinking, but I was convinced that Ezra's MRI results would come back normal. I was more than a little surprised when our developmental pediatrician's first words were, "I got the MRI results... and they're unusual."

The MRI revealed that part of his brain - the myelin sheath - is smaller than it should be.

"What on earth is myelin?" was my first thought.

Myelin is the part of the brain that covers nerve endings and speeds up nervous impulses. Because Ezra's myelin is underdeveloped, the messages that his brain sends to his body and his body sends back to his brain are very slow or sometimes incomplete. This is the reason for his significant motor and speech delays.

I need to go down a bit of a rabbit trail for a moment, but I promise it loops back to the diagnosis.

3 weeks ago Ezra woke up in the middle of the night with a low-grade fever and was violently seizing. He seized for 5ish minutes and as soon as he stopped, we rushed him to the ER. The ER docs couldn't understand how a 102.2f fever could cause a febrile seizure (febrile seizures usually don't start until about 105f), but that was the only explanation they could come up with. They sent us home with some apple juice and amoxicillin and we took them at their word. Somehow, all of this made its way to our developmental pediatrician, because he brought it up on our phone call. He doesn't think a fever of 102.2f could cause a febrile seizure and he suspects that Ezra has an underlying seizure disorder. A low-grade fever isn't enough to trigger a febrile seizure, but it is enough to trigger a grand mal seizure in someone who is already prone to seizures.

So we're scheduling an EEG for Ezra and, depending on the results, meeting with a neurologist in the near future.

Now more than ever, our developmental pediatrician is convinced that Ezra has a genetic disorder. I guess I assumed since technology is so advanced that genetics would be, too, but apparently that field is still in its infancy. The developmental pediatrician warned us that we have a 50/50 chance of finding a diagnosis for Ezra. In his words, he knows that Ezra has a diagnosis... he just doesn't know that we'll ever find it.

Isn't that kind of like life, though? We don't have all of the answers, so we work off of what we know and we learn from our mistakes. Hopefully we'll find a diagnosis for sweet Ezra so we can correctly tailor his care, but even if we don't, God is sovereign over this situation. He designed Ezra. He loves Ezra. And He is glorified by this special little boy bearing His image.

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.

Tuesday, April 25, 2017

One Last Hurrah

I know I sound like a broken record, but Auston is deploying soon and my already mushy, sentimental personality has been kicked into hyper-drive. This has left me with the overwhelming need to intentionally enjoy every moment that I have left with my husband.

Talking with him while he feeds Ezra a bottle? Enjoy that moment.

Laughing at a chef on Chopped together? Enjoy that moment.

Exchanging a quizzical look over our Facebook friend's questionable status? Enjoy that moment.

Maaaybe I'm clinging onto every insignificant moment just a little bit too much, but I'm pretty sure that that's Army wife protocol. Either way, deployment or no deployment, I will always cherish a date night with my hubby. This past Friday we snuck out while Ezra was with a sitter and partied like young, hip, kids. And by 'partied', I mean we ate until we were uncomfortably full and were back home by 8:45.

When we got to downtown Pensacola, we found out there was an art festival going on. We walked around from booth to booth and sampled some yummy local food. Auston had tacos al pastor and we split a basket of fried pickles.

Rather than heading straight to dinner, we were rebels and had dessert first. I had the tastiest smore's, honey lavender, and white chocolate macarons and Auston had bread pudding.

My favorite part of the night was walking up and down Palafox Street and people watching. Auston and I took turns guessing other people's conversations. That game usually ended with me laughing way too loud and us scurrying away as fast as we could before someone noticed.

Then we ate dinner at The Tin Cow, a.k.a. the coolest restaurant ever! They have a super unique menu that lets you customize every single bit of your burger! Plus, they have delicious adult milksakes. They're so good that even I will drink them!... although, I could have gone without the alcohol infused cherry (gross!).

The Bushwhacker: 16 oz of frozen, chocolate, coconut, yumminess!

All tuckered out at home... at 8:45 pm. What can I say? We're young, cool, hip, cool, trendy, - did I mention cool? - thrill seekers.

On a side note, I asked Auston if I should title this post, "One Last Hooah" and he gave me the nastiest stinkeye! Bahahaha!

Tuesday, April 18, 2017

2017 Family Photos

I'm so glad we decided to take these before Auston deploys! They're all so dreamy!

Also, there is nothing more classically "mom" than picking out coordinating outfits for your family to wear for family photos. What can I say, I live an exciting life.

Tuesday, April 4, 2017

Red Empire Week 2017

Today kicked off 7th Special Forces Group's Red Empire Week! Ezra and I joined Auston on base and were given a sneak peek into some of the cool things that the soldiers do. There were about 2 dozen tanks that we were allowed to climb in, live dog demonstrations, machine guns that we could shoot (without ammo, of course!), and tons of booths to visit.

5 soldiers Halo jumped from 10,000 feet in the air and landed on their feet. No matter how many times I witness this, I will always be blown away that they can hop out of an airplane and walk away unscathed.

Auston and I have been ships in the night as he gears up for deployment. I assumed that the Army would lighten his workload or give him some time off before he shipped out, but I was sorely mistaken. The past few weeks, he has had to show up earlier, stay later, and often goes days without seeing Ezra. Since that's the season of life we're in right now, I'll take family time any way I can get it.

Oh, and you can blame Auston for the Patty Melt sticker on Ezra's forehead. What can I say... dad's gonna dad.