Neurology consultation

Ryan, Thomas and I went to the neurologist earlier this week to have a consultation. When Dr. Taft, our neurologist, called with the Pachygyria diagnosis back in April, I had never heard of it. I wanted to take some time to process the new information, do a little research, wrap my head around it and develop a list of questions. Thomas and I both had input into the questions we wanted to ask and then eventually wound up at this consultation appointment after playing some phone tag.

Ryan at the Pediatric Neurology office

Dr. Taft explained that Pachygyria isn't a "disease" or a "syndrome" it's merely a description. Pachy means thick and gyrus are the folds in the brain, so Pachygyria means "thick gyri", or as it's been described to us in the past, the folds are thicker and there are fewer of them, which creates an overall smoother appearance to the brain. When I asked how to describe his condition on paperwork and various forms that I have to fill out, he said I could say that Ryan has a genetic abnormality that created a neuro cell migration defect which led to pachygyria that causes developmental delay and seizures. Now there's a mouthful for ya! I probably should try to commit that memory! Anyway...

Here's an overview of the Q&A. These are in no particular order and are actually probably jump around a little bit, but here ya go!

• It is 90%+ odds that he'll have seizures
• We won't know what type of seizure he will have until they start
• There are 5 or 6 generalized seizures (meaning it affects his whole brain) and several focal or partial seizures (meaning only a specific area of the brain is affected)
• There isn't much I need to do to prepare for the seizures other than to just keep a close eye on him - and practice common sense, i.e. don't leave him unattended in a bathtub (which I would NEVER do), don't let him climb trees (he can't do that right now anyways), etc. He could have a seizure at any moment, so it's best to make sure he is safe. Dr. Taft did say that he wants Ryan to do normal things - be around his brothers, play outside, have external stimulation, etc. so we don't want him in a bubble, but just have to keep a close eye on him. I didn't get a full tutorial on seizure types and such because, let's be serious, how deep can we really dive in one single appointment with lots of other questions I had to ask. People go to school for years to learn about and understand seizures...they're called doctors (or neurologists)...so I just still have some very limited knowledge. I figure I will learn alllllllllllll about them when the time comes.
• There aren't any plans for a medicine change. Right now, he's not having seizures and he's taking Topamax. We can't say for sure if the Topamax is preventing the seizures or whether his brain is not creating them....and we don't want to test it out by stopping his medicine. So we will just continue along with Topamax until/if it stops working. Human brains will grow and change over time, which means that Topamax might not always work for Ryan. We may have to play around with several different kinds and dosages of medicines throughout Ryan's life to try to get something that works best for him, and it's all subject to change at any given time. We will cross that bridge when we get to it.
• We need to stay close to a pediatric neurologist until he's 18. At that point, he'll begin seeing a regular neurologist.
• I asked about his normal EEG. Dr. Taft conceded that it was surprising and unusual, but also said that the EEG only tests a specific amount of time and it's not perfect. Still though, we will take it as a good sign. :)
• I asked whether Pachygyria would lead to a shortened life span. The answer is "possibly" - but not necessarily. Kids with neurological issues end up with other complications that can turn serious. For example, Dr. Taft was saying that he gets very concerned about pneumonia. What could start out as a little cold, could progress quickly because these kids can't cough out the sickness and it can become dangerous. He reminded us that we need to be very aggressive with treatment when Ryan gets sick and to go to the pediatrician whenever needed. We will be his advocates.
• We got genetic testing results back last fall, and it appeared normal. I brought this up again as Dr. Taft has said several times that Ryan's migrational defect is no doubt a genetic abnormality. He didn't recall specifically the type of test that we had done before, but now that we know more, we can order different/more specific types of tests. While we were there, he actually looked in the system for our genetic tests and apparently of the 2 tests that were orders, only 1 actually went through. It doesn't matter now though since we would be doing different tests at this point. Dr. Taft is going to put us in touch with Greenwood Genetics to do some further testing. It's amazing that we happen to have an internationally known genetics center right here in the upstate. After Dr. Taft has made the referral, it will take a while to actually get an appointment and then a long time before the results come back. The drawback to genetic testing is that it's cost prohibitive. He said they could call around and figure out what insurance will pay for and if we can get it done cheaper at one place versus another. The positive thing is that based on what they find, we may be able to understand the specific gene that is affected and can find other people with the same issue and possibly get some answers as to what life is going to look like for Ryan. If it's a new gene that hasn't been discovered yet, it could help people that come after Ryan that have the same gene. I clearly am no expert on genetics and it's wayyyyyyyy over my head, but this is very interesting to me and I want to explore it further.
• Ryan's Pachygyria severity is moderate. He's around a grade 2 - 3, which is in the middle of the spectrum. 
• Dr. Taft said he's had other Pachygyria patients and Ryan does seem similar to them, and actually maybe better.
• He said we should not worry about or try to avoid light up or vibrating toys for Ryan. He said that if he's going to have a seizure, he will have it, with or without these types of toys. 
• I asked about hippotherapy, which is basically therapy on a horse. It is apparently VERY helpful and kids love it. Dr. Taft agreed that it would be a great option for Ryan, but thought he may need to be a little older. It's something that I will look into.
• I asked whether Ryan has microcephaly. Through my online Pachygyria research, I came across this. It just means (and literally translates into) small head. I've noticed Ryan's head doesn't fit in hats the way his brothers' heads do. Dr. Taft said he does probably have it and that it's really just a description, the same way pachygyria is a description. Head size is directly related to brain development, since the head grows as the brain grows. I got the feeling I shouldn't get too hung up on this.
• You may remember that Ryan had a brain bleed in the NICU, and since neither of his brothers had this, I was wondering if it was related to his migrational defect. Dr.  Taft confirmed that the brain bleed was totally unrelated to these issues, but instead was a result of his prematurity. He said we were very lucky that neither of the other 2 had brain bleeds, since it's very, very common in babies born that early. 
• Finally we discussed our participation in some research studies with some of the very well-known doctors that deal with these types of issues. The limited amount of research that I'd done already told me that the waiting list to have your case reviewed is more than a year long and Dr. Taft reiterated that but said that he doesn't see any reason why we shouldn't do it if we wanted to. The issue is that it will be more beneficial to have our genetic testing results included in our request so it's best to wait until we get that back. So we'll probably be looking at 6 months to a year to get our genetic testing results and then it will be 15+ months after we send in all the information, so we are looking at a few years, realistically, before we could get anything back. I do think it will be worth it, so we'll generally head in that direction, knowing that we'll need patience. 

Thanks for reading all this information about our sweet son. The one thing I can say is that Thomas and I love Ryan unconditionally and will do whatever we can to help him. I tend to shy away from confrontation or the "bulldog in a china shop" way of doing things, but I realize I may need to step up at times when and if we feel like Ryan isn't getting the attention or care that he needs or deserves. This goes back to us being Ryan's biggest advocates. I think he's been very well taken care of so far and I hope it continues, but I also hope my mama bear instincts will come out if I feel like we need to fight for him in any way with insurance, his medical team, therapists, etc. Please keep Ryan in your prayers. We want to pray for him to remain seizure-free and to continue to develop and progress. Our sincerest thanks for your care, concern, love and prayers.

Slight schedule change

I almost forgot to update about this....but it was pretty important to us! It is minor....but very important.

We made a sliiiiiiiiight change to the schedule for the boys probably about a month ago. We did away with morning and nighttime milk in the nursery. Yay! Sounds pretty insignificant, right? Nope. It's not.

I decided that we should not have milk in the boys's room anymore (duh) and that we really needed to keep milk in the kitchen (again, duh). The problem was that we had created monsters by bringing their milk to them first thing in the morning and then giving them more right before bed. Here's how it went....I would go in their room at 7:30 AM, change their diapers, and give them milk. Then we'd play, read books, etc in their nursery. Around 8:30 AM, we'd go downstairs and they would have breakfast and sometime after that would go back upstairs to brush teeth and get dressed (so they wouldn't get dressed until 9:30....which seems kind of late to me!). Then after dinner (they used to drink water with dinner) we would go upstairs, put on pajamas, drink milk and then brush teeth in the nursery. There are a few issues with this. Sometimes, milk would drip onto the carpet. Gross. Also we used to just brush teeth with water but have recently started using baby toothpaste. Now that we have the toothpaste, I don't want them brushing teeth in their room. I want to associate the fact that they go to the bathroom to brush teeth. I came to the conclusion that we needed to do away with the morning and nighttime milk cups. The scary part was that they would CRYYYYYYYYYYYY whenever it was milk time and it wasn't in their hands. Like if I were to change someone's diaper, he would immediately want his milk and would fuss and cry while I was changing the next one's diaper. I thought, "Dear Lord, I can't take it if they're going to cry while I'm getting them all dressed every single day!". Getting them dressed takes more than...ahem...5 minutes or so. It would be like a 15 minute ordeal of having screaming and crying children while I had both hands busy. To be frank, I was SKURRED.

Pictures of milk in the room...

Stokie

William (pre-haircut)

Ryan

I know, I'm long-winded (or long-typed) sometimes, so long story short, I made an executive decision that we would quit the milk in rooms and just deal with all the crying for a few days or a week until they got used to the change. I was planning to just bite the bullet. I chose a week that neither Thomas nor I was traveling so that we would both be there and he could help if I really needed some support or 2 more hands!

I was shocked and in awe when it went smoothly. No tears. No getting upset. They let me change their diaper, put on their clothes and then they just played in their room while I was doing the same to the next two. Then we leisurely went downstairs and had milk with breakfast! Now, I'm not saying it was a walk in the park. As soon as they get to their high chair for breakfast, they immediately start saying "milk, milk, milk" and they want their cups right then. But overall it was very smooth!

The night time bottle went just as well. We gave them milk with their dinner and went upstairs and brushed teeth, put on pjs, read some books and put them to bed. It was like they knew that because they had milk with their dinner, they weren't getting more....or something!

And I think part of the reason they would cry so hard for it before was because the milk cups were in the room and they could see them and would want them. Not having them in there made them forget...or not care.

More current pictures...

Milk with dinner!

William LOVES milk

Stokes loves water & milk :)

So, the milk bridge has been crossed. It's working out so much better!

Happy birthday!

This post goes out to the best Da-da. We are so grateful for you. You keep us all sane and continue to amaze me with your hands-on, involved and loving approach to parenting. We hope you have a great day & are looking forward to celebrating YOU all weekend!

Thomas and his boys on his birthday!

Introducing

Our newest niece and cousin...

MADISON CLINE HALVERSTADT

Born on 6/17/15 at 2:39 PM in Charleston, SC; 7 lbs, 5 oz and 20.75" long.

Look at this beauty! 

Beautiful baby/Mama moment

The newest member of the family!!!!

Mama, Daddy and Baby Madison
**Can you believe how ridiculously beautiful Tara
looks after just giving birth?!?!?!**

Sweet Madison!

Madison with big cousins Anna and Taylor and Aunt Ashley

We can't wait to meet you, Madison, and are looking forward to having lots of fun together for years to come!!! xoxo

Rolling, rolling, rolling

Guess who has been rolling over in his crib! You (probably) guessed right...it's RYAN! This has been happening for several weeks but I've missed taking pictures of it when I walk into the nursery in the morning and don't have my phone on me. He somehow manages to roll over and turn himself around in his crib throughout the night. We don't use a video monitor, so I haven't actually witnessed this phenomenon...yet.

This is what it looks like when we put him to bed (and yes, he is wearing Superman pajamas, which is just perfect for him!!!).

Head at the top of the crib, feet at the bottom, laying on his back

Trying to sit up - he's getting so close!!!

...And this is how I walked in and found him this morning!

Head at the bottom of the crib, feet at the top and (mostly) on his tummy

He's a mover and a shaker, y'all! I can't wait to see this turn and roll in person.

And here's a side note, he's not a big fan of rolling, but after all this PT, we know that he does have the ability and strength to roll. After I got him up this morning, I put him on his back on the floor while I was changing diapers and such. When I turned around, he was partially rolled over...like halfway. Then I did something else, turned back around and he was on his tummy. It doesn't happen often, but it DOES happen. Maybe he will turn into a roller after all! Go, Ryan, Go!!!!

21 month well check

I know what you must be thinking. A 21 month well check? What is that? Aren't you supposed to go at 18 months and then again at 24 months? Well, the answer is yes, but our pediatrician wasn't quite ready for us to go a full 6 months without a well check so she added a 21 month appointment to our schedule.

You know what's cool about a 21 month well check? No shots! :)

MaSha came and met me at the pediatrician's office. Our appointment was late in the day last Wednesday, and Layla was scheduled to leave at 4:30, so MaSha kindly agreed to help out. I was really glad to have her there!

All went fine with the appointment. As I mentioned, we didn't have any shots. It was just a way to check in and make sure everyone was doing OK.

Updated weights and heights:

Stokes - 22.59 lb (4.28% up from 2.25%) and 31" (2.76% up from 0.98%) - he's such a little peanut

Ryan - 21.69 lb (1.75% down from 3.08%) and 31.25" (4.24% down from 13.77%)

William - 24.34 lb (15.52% down from 24.65%) and 33" (34.62% up from 24.6%)

The boys are still towards the bottom of the growth charts, but William is making his way up to the middle of the pack. I was a little concerned about Ryan's numbers, having not grown much or gained much weight since our last appointment and seeing a drop in his percentages. No action items to be done right now, but we will continue to monitor it.

One thing that came out of this appointment is that our pediatrician made a referral for Ryan to go to an orthopaedic doctor to get spinal x-rays. There is some question as to whether his spine is straight. I've had family, our PT and now our pediatrician look and no one can say for sure. It looks to be straight most of the time, but other times, there we aren't totally sure. Our PT and ped think it may just be positional when it looks like it's not straight, but we feel like it warrants x-rays to make sure and treat if needed.

Hearing screen

On Monday, we had hearing screens done on all 3. They initially passed their newborn hearing screen in the NICU but hadn't been tested again since then. Since they're all experiencing some speech delays, we got the recommendation and referral from the development clinic to have their hearing tested....just to make sure! A lot of times, when there is a speech delay, it will prompt the medical team to do a hearing evaluation and that is the problem and the reason for the delay.

Not in our case! All of my little guys passed their hearing tests! Woo hoo!

Layla and I took all 3 of them in to the hearing office and had to divide and conquer. We had 2 tests going on simultaneously and 1 more immediately following. The appointments began right at 9:00 AM downtown (I have to allow for 30 minutes of travel time each way), so we had 1 hour in the morning to get up, get diapers changed, put on clothes (including socks and shoes), eat breakfast, brush teeth and get out the door. I know that probably doesn't seem very difficult to do, but it was a fast-paced morning for us.

We got to the office and I had the fill out some paperwork (of course) and the boys were starting to get a little noisy and didn't want to sit still. I thought we were going to be in for a rough appointment. They behaved pretty well, however, once we got called back to start.

They did three tests on each of the boys (three is our magic number!). First they had us in a soundproof room with speakers all around and little stuffed animals in the corners that could move and make noise. By the way, being in a soundproof room is weird. It makes your ears feel strange! So anyway, the test administrator would turn on some noise so that speakers only in one part of the room would be making noise. When the boy would look in that direction, the stuffed animal in that corner would start moving and lights would blink, I suppose it was positive reinforcement for them looking in the correct direction from where the sound was coming. Then the admin would change the sound to come from a different part of the room and wait for the boy's head to turn and then let that animal move. That test lasted maybe 5 minutes or so. They tested different types of noises as well as volumes.

Stokes climbing the wall before his test began
(view from outside the room looking through the window)

Ryan and William waiting patiently

 The second test involved some instrument that checked for fluid in the ears and rules out ear infections. We've only had one known ear infection - Stokes had one this spring. Pretty good considering how common ear infections can be!

The third and final test focused on the outer hair cell function - whatever that means! They stuck a little ear bud into their ears and got a reading.

All three seem to have normal hearing, which means we don't need to have a follow-up. That's what I like to hear! The only concern they noted was Ryan's sound field responses from the first test were a bit slow. This is not a surprise to me because his reactions as delayed, just like his development. For example, if you do something that will make him laugh, there's always a second lag time before he actually laughs.

We actually finished the appointment relatively fast, it was about an hour and half from the time we arrived to when we left. Not too bad! The hearing screen is in the books and the boys passed!