Wednesday, July 28, 2010

Conversation With a Nurse at the Pediatrician's Office

Nurse: Let's see how Collin's doing. This is his 18 month checkup, right?

I confirm as she pulls out his folder and looks at his developmental chart. Pauses.

Nurse: OK... (She puts her finger on where he was at our last appointment and seems to be processing.) Maybe I should start at 12 months this time.

Me: I wouldn't.

Nurse: Really? He's not talking yet?

Me: No.

Nurse: Okay. Hm. Not even 'mama' or 'dada'?

Me: Nope.

Nurse: Drinking from a cup?

Silence. She still has not looked at either me or Collin at this point.

Nurse: Well, how about 9 months?

Me: (Taking a breath first.) His First Steps evaluations have him more around the 3-6 months range.

Nurse: Hm. Well. Okay. Let's just forget about this.

She closes the folder and leaves.

This probably would have had me close to tears a few months ago, but this time, I mostly felt sorry for her. She just didn't know what to say and seemed to know on some level that it was going poorly but couldn't salvage it and I couldn't help her. At the end of our appointment with the pediatrician, I suggested that the nurses look at a child's chart before they start asking developmental questions and when they see a major delay, start off by saying, "So tell me what new things Collin is doing since your last visit." That allows me to brag on the fact that he laughs consistently and can hold his head up more reliably now rather than having to endure the whole rigamarole of finding the 'right' spot on that blasted chart for Collin. It also allows her to get the information she needs without floundering and being insensitive, however unintentionally.

Other than that, though, the visit was very smooth and positive. Our pediatrician is FANtastic, in case I haven't mentioned that before. He loves Collin and at one point, when he held Collin up in the air and put their foreheads together, I literally had to swallow down a little sob. He is very pleased with Collin's progress (which seems to be the theme these days) and said that he looks very happy and healthy. I'm going to email him some information on Collin's branched chain amino acid therapy so he can learn more about it (because that's the kind of doctor he is) and he is very supportive of the geneticist's suggestion to try growth hormone therapy. He ended the appointment by writing down my suggestion about the nurses and telling me that we're doing a wonderful job with Collin. It caught me off guard and I choked down some more tears as we left.

We got out earlier than I had expected and Collin fell asleep in the car, so I got an iced chai latte at a drive-thru and we just drove around for a while and listened to classical music. All in all, not bad for a Wednesday morning doctor's appointment.

Monday, July 26, 2010

The Twilight Zone: A Good Genetics Appointment

We've never had good luck with geneticists. In general, our appointments with genetics have been vague, unhelpful, and discouraging. So I was less than excited to take Collin down town for an early morning 18 month genetics checkup last week.

The strange thing was that it was great.

The doctor spent an hour and a half with us, asking insightful questions and playing with Collin in a voice that sounded ridiculously like Billy Crystal in The Princess Bride. He did a thorough examination, reviewed Collin's fairly extensive medical history since the last time we saw him and I felt like he had a pretty good idea of what was going on with Collin by the end of the appointment, which is more than I can say for some other doctors.

By far, the highlight of the appointment was a sentence that totally took me by surprise: "I'm pretty confident that whatever Collin is dealing with is not degenerative." It felt like it came out of nowhere. For various reasons, I rarely ask questions about things like that, so I didn't expect it to come up. So, I just blinked at him at first and then all I could think of to say was, "Really?" He explained that it is highly improbable that the trajectory of Collin's recent development would be possible if he were facing something degenerative. Instead, he believes that it is a static condition, which would mean that, rather than things getting steadily worse, they will get slowly better. He emphasized the slowly, but all I heard was the better. He encouraged us to go ahead and get our follow-up brain MRI in August, but feels pretty sure that we won't see a change for the worse. Part of me started jumping around and screaming like a lunatic, but another sad and hurt part crossed her arms and said, "We'll see." But even she had to admit that it was an exciting thing to hear from a cautious and thorough doctor.

As always, we left with a "plan" list as long as my arm (which, given my genes on my mom's side, is saying something):

1. He referred us to endocrinology to see whether Collin is a candidate for growth hormone therapy. Collin is below the 3rd percentile in all of his measurements, so he doesn't think it will be a problem, but we'll see. The doctor thinks it could really give Collin's muscles a much needed boost, allowing him to do some of the things he obviously wants to do right now, but physically can't.

2. He also referred us to sleep science to get a sleep study. Collin is a somewhat fitful sleeper and there have been suspicions of apnea for a long time, so we'll see what we're really dealing with.

3. He ordered a ton of blood work, including a genetic test, another mitochondrial test, and several levels linked to the ketogenic diet and metabolism issues. We did this this morning and it took the usual initial try, call to the IV team, massive finger stick/squeeze and room full of stressed-out phlebotomists to get everything we needed.

4. He ordered an x-ray of the hips to see whether or not Collin has any congenital predisposition toward hip problems so we know whether or not to worry about getting him in a stander at this point. We also did this while we were at the hospital for the blood work; it took about 90 seconds and Collin slept straight through it because he was so exhausted and overwrought from the blood draw fiasco.

5. We will be adding a B vitamin complex to Collin's supplement regimen.

We'll be seeing the geneticist again in another 6 months and this time, providing Collin continues to develop at his own pace, I don't think I'll dread it quite as much.

Tuesday, July 20, 2010

The Spice of Life

So...

About 30 minutes after I posted yesterday, Collin went a weird color and started acting strange and shaking and pooping a lot and retching until he turned blue. Just to preserve some variety in our lives.

I checked his blood glucose and ketones and both were quite high, which was strange, because usually if one is high the other is low and you know how to fix it. So, I called our awesome keto nutritionist at the hospital, who immediately called the neurology nurse practitioner. They confirmed my decision to give him a bit of juice to bring down his ketones, but also recommended that we see our pediatrician as soon as possible, thinking that Collin was coming down with a bug. I didn't think this was the case due to the sudden onset, but definitely wanted to get the doctor's opinion and they worked us in within the hour.

In the meanwhile, I gave Collin half an ounce of apple juice and he immediately fell dead asleep. When we got to the doctor's office, he woke up and was smiling again within a few minutes. I rechecked his blood levels and his glucose had stayed the same but his ketones had dropped. The doctor didn't find anything suspicious and suggested it might be viral.

My theory is that something made his ketones skyrocket and he reacted to that change. His ketones increase throughout the day and by 1:45, they were already what they usually are by the time he goes to bed and high ketones or fast ketone changes can cause nausea and all sorts of yucky side effects. As to what made them increase in the first place, I don't know. I have noticed that his ketones have been generally higher since we started making his food in the Vitamix blender. I'm not sure what the connection would be - either making the fats more easily absorbable or more evenly distributed is all I can think of. Regardless, I mixed his next batch of meals at a slightly lower ratio.

All of Collin's blood levels were normal by the time he went to sleep last night and he's very much himself this morning, but I will definitely be keeping an eye on things for a while.

Monday, July 19, 2010

Keeping Up

I'm having a hard time handling Collin's awesomeness myself, so I'll try not to overwhelm you today.

Thursday during aquatherapy, Collin's wonderful therapist was bragging on how well Collin was doing and decided to push him by trying something she didn't expect him to be able to do yet. She faced Collin away from her, leaned him to one side, and said, "Sit up, please, Collin." And darned if that little booger didn't start wiggling and kicking until he got himself into and upright position, holding up his own head. I thought it was a fluke, so she did it again the other way. And then leaned him farther over. And then he did it four times with me. I was crying right there in the pool. It was amazing. Apparently, we're going to have to be careful what we say around Collin if he's understanding that much more than we thought.

Saturday, we drove to Cincinnati for Collin's quarterly NACD evaluation. Bob was really pleased with the progress he's seeing. Collin laughed and squealed and put on a big show to demonstrate how much he's interacting with us these days. We haven't received our new therapy program yet, but we know it's going to include LOTS more tummy time, stickers in his palms to make him more aware of his hands, and maybe some exercises to increase lung capacity.

This weekend, Collin also debuted on the piano. He often sits in my lap while I play and LOVES it, but he has always lacked the interest and/or ability to push the keys down himself. He wouldn't extend his arms enough to even reach the keys without bending all the way over, and when he did, he would ball up his hands. Apparently, something clicked this week, though, because when I sat him up on my lap, he stuck his arms out like he wanted to try, so we did and he pushed the keys down by himself numerous times. I had a flashback to a picture of myself pretending to play the piano at my Grandma's house when I was little and got teary. This picture goes out to Aunt Aimee.

Today, we saw Collin's nutritionist and found out that Collin has gained ANOTHER 11 ounces, which blows my mind since we haven't increased his calories since March. BUT, his fat stores haven't increased again either, which makes us think that the weight he's gaining is in muscle, which is FANTASTIC. He also grew another quarter of an inch, and -- here's the kicker -- his head grew .7 centimeters! IN THREE WEEKS! You should see his growth curve. It's almost vertical. That means he's back on the chart for head growth! (Barely, and he's hanging on right below the 3rd percentile, but we'll take it!) I guess his craniosacral work, healthy diet, and lots of specific input to stimulate development is finally adding up.

We also had a visit from Collin's OT this morning and she suggested working on Collin's hand awareness and feeding all at once by trying to eat by mouth. I kind of chuckled to myself, knowing it wouldn't work and that he wouldn't cooperate, but I put a big gob of carrots and butter in his hand when she left and his eyes got all big and after a couple of tries, he let me put it in his mouth and licked his fingers! This is huge for a kid who hasn't wanted to use his hands OR mouth for a long, long time.

Phew. I'm exhausted just writing all of this. If he didn't have to take naps, I would never get a chance to catch my breath so I could keep up with him.

Wednesday, July 14, 2010

Reasons to Smile

Today, Collin went to school for the first time. VIPS (Visually Impaired Preschool Services) is an amazing resource with a great facility and they have a 'class' for kids 0-3 on Wednesdays called "Play and Learn", or PAL. We've been meaning to go for about a year, but part of that time Collin was immunosuppressed and part of the time he was having seizures and part of the time I was crazy busy and part of the time I was avoiding trying something new. But we got ourselves together and went today, and boy was it awesome.

Collin got to be with some other kids and I got to talk to some other moms facing similar struggles. And we played. It was great. Collin seemed to genuinely enjoy himself (though he pooped out and got overstimulated part way through). He sat in a kid-sized bean bag and played with new toys and sat at a kid-sized table and made a craft. He had quite a bit of help, but he MADE A CRAFT, PEOPLE. With Ms. Margaret's assistance, he made a watermelon out of a paper plate. I literally had to bite my lip when she handed it to me to take home. I guess that was one of those things I wasn't sure I would ever get to experience. And when I got home, I put it on the refrigerator and called Kyle and cried like a big baby.

We ended our school morning in the sensory room, which is wonderful for kids with all kinds of special needs. As the big brother of one of the kids said, "It's like magic in here." Collin loved the bubble tower and did great in the lighted ball pit. I was so proud of him and felt so welcomed by the people there. I've been smiling about it all day.

Friday, July 9, 2010

Busy Busy

Hi folks. Sorry for the delay. Things have been busy busy busy around here. After our last post, Collin's seizures changed to something that looked more like Infantile Spasms again and we narrowly missed another stay in the hospital. Then as soon as we got the seizures under control and things calmed down, the best thing ever happened...

Collin got a cousin! Meet Ila (that's EYE-LAH, not LLLLLAHHHH, as these pesky sans serif letters make it look. I expect myself to type llama half the time.) She's cute and loud and eats like a champ. And speaking of champ - her mom kicked major booty for 19 hours bringing her into the world.

So, we've been busy getting to know Ila and just taking care of the same ol' everyday things. But Collin is the supreme multi-tasker and has done all of this PLUS the following list of awesomeness:

- held his head up for 15 seconds in aqua therapy
- kicked on command in the pool
- dominated aqua therapy and became a major water baby
- turned toward his mama's voice for the first time
- learned to intentionally turn on his favorite mirror toy
- made progress in sucking pureed food off a spoon
- generally made strides in being more interactive with listening and looking

And, as we all know, Collin is constantly buying cool stuff. This month, he got an amazing chair swing that is hanging in the den and a Vitamix blender so he can move away from baby food on his blenderized diet. The only problem is that Mama fell slightly in love with the Vitamix and has been using it all the livelong day. Luckily, Collin doesn't mind sharing.