The Inconsequential Side Effects

 

Cyrus is on three anticonvulsants, and he's on the maximum dose for each of them for his weight. Seizures still manage to break through, but the neurologist has always seemed reluctant to add a fourth. Instead, she would talk about substituting one of them. This idea terrifies me because I can tell you what each one of these drugs have done for him!

Sabril (vigabatrin) completely controlled his infantile spasms. And every time we increase it's dose, his seizure frequency almost always cuts in half. This drug has done more than any other in helping Cyrus to maintain even his limited seizure control.

Levitiracetam (Keppra) turned his never ending grand mal (tonic clonic) status seizures into short partial seizures. His first grand mal lasted at least 90 minutes before the ER personnel managed to break it. His second lasted just over 70 minutes. He's never had one nearly that long since we added the keppra. And when he started having multiple seven, eight, ten minute seizures in a week, we simply increased this drug with his growth spurt, and he started having partial seizures instead again.

Onfi (Clobazam) brought back Cyrus's smiles and laughter after four months consecutive months without. It does also seem to control the partial seizures better than anything. If he's having a bad day, we give him this dose just a bit early. But seriously, this stuff brought back his personality - who cares about seizures?!! (I might, but still!)

So the idea of taking any one of these drugs out, to replace it with something else that might work better, but also might do nothing for him - that's simply terrifying!

I thought there was some protocol I didn't know - some reason that we couldn't add a fourth. This confused me because I know of several children with intractable seizures that are on four, and there was even one case of five. So I asked her about it. She almost laughed. She said that there was not a protocol or rule - simply that the longer he took a medicine and the more medicines he took, the higher chance he would develop some significant side effects. We can still add a fourth if he's having bad clusters again (which by the time of the appointment, he wasn't anymore).

In general, the anti seizure meds are all sedatives. So, they may keep him zoned out and calm. But see, seizures do the same thing, except only a million times worse! After a seizure, his eyes are so glazed - you can tell that he's lost. And without any meds he would never stop seizing. I honestly don't know how different he would be if he was without both seizures and without the medicine. That's never been a possibility. So, I've honestly never cared about the sedating side effects. If anything, his meds seem to make him overall more alert if only because his brain works better with less seizures!!

Sabril used to be illegal within the United States, banned by the FDA because it causes peripheral vision blindness in a third of those who take it. Of course a never ending seizure is worse, and so the FDA eventually, changed their minds on this. Every shipment of it we receive comes with giant warning labels that there's no way to predict when peripheral vision blindness will occur. In order for Cyrus to continue taking it, he has to be seen and checked by an ophthalmologist regularly. He said that he always advises patients to be on it for as short a time as possible, but that anyone who is on it generally needs it for issues far more concerning than peripheral vision, so... and then he shrugged.

And I've never really worried about it. As the doctor said, we don't really have a choice so if the cost is his peripheral vision, that is the cost. The alternative is for him to keep seizing until his body can't handle it anymore.

A few months ago Cyrus met with a dental hygienist. She came from a practice that visits his pre-school specifically and they specialize in working with special needs kids who don't cooperate when you tell them to open their mouths. She counted how many teeth he currently had, how many were erupting. Told us that his teeth were very clean and that she wanted us to start using fluoride toothpaste. She also explained to her partner that he was taking one or more medicines that were staining his teeth blue.

I somehow hadn't noticed this, but after it had been mentioned, I could see it. And boy does it bother me! He has two teeth that are for worse than the others and honestly it looks more grey to me than blue. Blue would at least be kind've cool! And that night I noticed the angle I held his head and the angle I inserted the medicine - I could see exactly how those two teeth were more affected. Cyrus even helps. You place the oral syringe at the right corner of his mouth and he opens it immediately. He knows what's coming! And he gets a little bit at a time, about 2 mL - aimed from the right to the inside of his left cheek so that it doesn't spray the back of his throat and send him into a coughing or gagging fit. This also reduces his chance of aspirating the medicine accidentally.

My method doesn't change, but now I see it all the time. And it bothers me. And it bothers me that it bothers me! Like it's such a superficial cosmetic thing. Why is it so easy to shrug off potential peripheral vision blindness and yet obsess over stained teeth?! Am I that shallow?

Maybe. I honestly don't completely discount the possibility.

But maybe it's also because I can actually see it happening.

And there's nothing I can do about it.

General Update: 

In other Cyrus teeth adventures, we are working on learning how to chew food in OT. We wrap some food in a bundle of organza (silk based mesh fabric that is apparently safe and non toxic, so can be put in the mouth) and we place it in the side of his mouth - to one side. We're trying to get him to practice chewing on the food, which will release some flavor, but we do not have to worry about him choking on food particles that are too big. We also want to see some lateral tongue movement. Typically right now, Cyrus moves his tongue forward and backwards to move food around in his mouth. We're trying to teach him that there's a whole second axis of motion - side to side! So really, we're teaching him physics!! Haha!

The other amusing anecdote of the week is that this child managed to spit up a bit without my noticing, and then fall asleep right in the mess, and he woke up with it everywhere. I tell you he gives me sleepy smiles, slurs his speech, he's incredibly wobbly, he can't walk, and he's sleeping in his own sick! What am I to conclude other than taking care of babies is a lot like taking care of drunk roommates.... haha! 

But he did reach a bit of a milestone a few nights ago! He fell asleep on his own without any addition of melatonin and he slept through the whole night! (Usually, if he falls asleep without the supplement he wakes up at two in the morning wanting to play!) So maybe this suggests we may eventually be able to wean him off of it. Though the next night he was wired and definitely needed the supplement. And I'm not sure if it matters if we can't - he's on such a low dose. 

And he's been making this angry face when he's unhappy with me. And I just can't help but laugh. He's just too cute when he's angry. Does that make me a horrible person??? 

In general, he's doing really well - stained teeth and all! He's getting so big so fast and it's a little crazy to me how much he's starting to look like a child rather than an infant. We hope you and yours are enjoying and appreciating life as well! 

Learning How to be an Advocate for my Son

I often feel incredibly inadequate to be the representative and advocate that my son needs me to be.

At his next IFSP (Individual Family Service Plan) meeting in August, we are supposed to begin discussing his transition to an actual IEP (Individual Education Plan) for when he turns three. At this time his special education services truly become focused on education (The IFSP services often also have a medical focus) and his services are provided by the school district. And I have felt so ill prepared!

This was probably highlighted for me during one of Cyrus's visual therapy sessions where his EI (Early Interventionist) was explaining Cyrus's history to someone who was shadowing her that day. She commented quickly to her companion that Cyrus had initially only received one service when he first qualified. And she said this in a tone of total disbelief, but so casually in passing - she most likely had no idea that it struck me so deeply.

In that moment, I didn't feel angry or cheated by the Regional Center who provides Cyrus his services. Instead, I just felt guilty and inadequate. The fact that she, an educator who is familiar with the world of severe pre-school eduction, thought my son needed more than he had initially been given, suggested to me that I had somehow failed to advocate for his needs.

But I also did not know how to go about changing this dynamic. I simply don't know enough about special education services to know what is out there. Even as a teacher, I'm very familiar with what services a child might receive within a classroom, but outside of that context, I know very little.

And I keep trying to rectify that. I've been asking questions since our very first meeting. "What does education even look like for a child with severe limitations like my son?"

"Well, that will depend on how much progress he makes and what he needs when he's three," was the calm and soothing answer.

Except I was not calmed or soothed. I am a teacher who has sat in on dozens of IEP meetings. I know exactly what that means. Essentially, you can't actually answer my questions less it be perceived as you promising me something.

But here's the thing. I wasn't asking for any kind of guarantee! I really am curious! I want to know. What the hell does education look like for a kid who will likely remain nonverbal? Who may not even learn to stand, let alone walk? What do you try to teach these kids?

I let it pass, figuring I could ask my own special education friends, but the thing is, I really only know the ones who work with the mild and moderate students! And they know more about high school for some reason.

In our last meeting, I pushed harder, which only resulted in Cyrus's case manager admitting that she could get in trouble for talking about the district. (She doesn't work for the district and we are pre-school aged).

I just felt so frustrated! And more than a bit paranoid as I've been coached before IEP meetings when administration was expecting a difficult parent or a sensitive situation, to not bring something up, or to reinforce a certain conclusion. I have never been part of a meeting where I felt the school didn't have the child's interests in mind, but I suddenly can empathize with the frustrated parent who is not being given the full picture.

Because it really feels like the system is designed to keep parents in the dark so they don't know what to ask for. But how am I supposed to decide whether to send my son to an SDC class or insist he be put in the county program if I don't really know what the difference is? How can I truly advocate for him if I have no idea what's out there, and the one person who is an educational expert on exactly what that education looks like is not allowed to tell me?!

This dynamic is incredibly unhealthy in my mind. This whole systemic situation tilts the relationship between parents and resource specialists/case managers more towards the adversarial side. And I think this no doubt results in more lawsuits - there are more parents convinced they are not getting the best deal for their child.

And I know that neither of these parties actually want it to be that way, but since everything is surrounded by legal documents and limited budgets, we all have to become skilled diplomats negotiating peace between two parties that want peace, but always expect to be stabbed in the back. When it should be a group of like minded natural allies who trust each other implicitly, truly working together for the best interests of the most vulnerable amongst us.

When faced with the uncertainty, I did what I always do: research! But my findings were mostly unsatisfactory. Public schools have almost nothing posted about special education. If something is there, it's about how to refer your child for testing, and there's nothing on what potential services are available. I have found private schools that have beautiful marketing pamphlets that basically say the same thing the resource manager said - that they create individual programs to meet children's needs. But do they give any examples or specifics on what that might look like? No! 

And I have found so much on the law, which says the school must provide a free and appropriate education and what my rights as a parent are, but it doesn't define what that means for children of different ability levels either (that's probably a good thing because what that is no doubt changes with new pedagogy and technology).

But I did keep getting a consistent piece of advice from Cyrus's case manager (which is how I know she really does want to help however her hands may be tied), his teachers and therapists, my own colleagues, and on the internet. Talk to other parents.

I didn't really appreciate this advice. I don't want to go to a parent group. I have a hard time socially navigating large groups if I don't already know most of the people there. And as the stereotype introvert, going to a group weekly - or simply often enough, to make yourself friends is just anxiety producing for me.

Luckily, a parent of one of the students in Cyrus's class insisted we join her in an informal mommy group anyway, just to try it. I actually already knew two families in the group and they only meet once or so a month!  And goodness knows, if we have to flake at the last minute due to a bad seizure, this group will totally understand! We've been exactly once! There were only five families there, so it wasn't overwhelming at all. Everyone was so warm and welcoming. But more importantly (at least this time) they were fountains of information!

I learned some of differences between the typical SDC class (though they change from district to district and year to year depending on needs) and the county program (which typically has students with more complicated medical needs with multiple nurses on hand). We learned that there is summer school for special needs students, but that it's only a month long, so there's still a month off where we can make our California grandparent/aunt/uncle circuit each year. I've learned that I can request to observe a class before we agree to Cyrus's placement, and that his transition meeting will probably have a dozen people there, and not to feel intimidated. (As if!)

We learned that the Regional Center and County actually have three different programs to help you take care of a disabled child: 1) Subsidized Day Care, 2) Respite (someone comes over to give you a break), and 3) In Home Support Services (we actually knew about this one ourselves from a co-worker and were able to give this information to others!)

And CCS (California Children's Services) not only provides Physical Therapy and Occupational Therapy, but they also help you get mobility equipment! We thought we knew this as they helped us get Cyrus's wheelchair and bath chair, BUT we learned they also have a program to help us obtain and/or modify a van to be able to transport him! This would be amazing for us as Cyrus is rapidly outgrowing his current convertible carseat and I was trying to figure out how to afford a minivan!

I learned more in this hour about our local school district and educational county office than I did in eighteen months of prior searching.

So maybe now, I'm feeling a little more confident and a little more prepared. Yay for parent groups! I'm excited for our next get together!

...

General updates: 
Cyrus's seizure activity has changed once again. He now seems to get an "aura" beforehand where he knows they are coming, because he will literally freak out in what I can only describe as a panic attack. Not all panic attacks result in a tonic clonic seizure, but all seizures seem to be preceded by a panic attack. His neurologist told us that the panic attack itself probably has abnormal electrical activity and may be a focal seizure. Watching him terrified is hard, but the one benefit is that we have a few seconds of warning and can make sure he's in a safe position and have the emergency meds on hand. The other good news is that the constant status events I described in my last post have really tapered off to almost nothing. His seizures now, are still every couple of days, but they have been very short, and far less scary.

In far more exciting news, Cyrus has grown increasingly social! He has shown preference for wanting to play with a particular little boy at school who is a bit older than him. Seems to be happier when he's around. He will respond when you rub his head or talk to him. When he's not teething (he's been teething a lot, but we're down to our last two molars), he loves life - he's full of smiles and giggles at the slightest provocation! And when he is teething, he consistently communicates his displeasure.

His head control, that was so gorgeous in January, but then disappeared, seems to be coming back as well. He has developed a new extreme hatred for baths and sitting in his carseat. And he has grown so much that his wheel chair had to be adjusted.

Cyrus has also been approved for In-Home Support Services, where we can hire a person to come take care of his irregular needs (things that a typical two year old wouldn't need). And in the case where one of the parents is not employed full time, you can just hire yourself! So Kyle is now going to get paid about two or so hours a day to give Cyrus physical therapy, medicine, and feed him - you know, the things he does anyway! Two hours is not a lot, but apparently Cyrus's number of allotted hours will go up as he gets older and every little bit helps!

There's a lot to be grateful for.

Where is Cyrus? 

A Week in the Life of Cyrus Lee

The Sun King on his throne!

Cyrus and I got to spend a lot of time together this week as I took on Kyle's routine and errands. This was a double win as it let me spend more time with Cyrus and let him spend more time on his passion project. I spend a lot of time wondering what goes on in his little head - what he makes of us, of the world around him. And this account of our week together explores that idea from his perspective rather than mine. It was an interesting exercise from a writer's perspective.

All names of children have been changed to protect their privacy on my very public blog, and for this same reason their faces are not shown even though they are all preciously adorable. This post pulls no punches. It shows the progress, the fun, the scary, and the ugly bits of Cyrus's daily existence with lots of pictures and a few videos that will definitely show up if you're using Chrome (I make no other promises for other browsers as I've had trouble with it). We hope you enjoy it!

Saturday
I have a best friend and I will call her Heather. She is in my preschool class and she makes me smile. Today, I was supposed to go to her birthday party at the Magical Bridge Park, but it was raining again! I say again because this is the second attempt at having a party and it was raining during the first one too!

I suppose it was just as well, as I wasn't in the best of moods for most of the day anyway.

Sometimes, doing nothing is best...

Sunday
Today, I got to actually go to a birthday party! This one was for Lily! Lily has come over to play a few times and she's fun to watch run around. She turned two, so she's the same age as me! When we arrived we didn't get out my wheelchair. Instead, mommy carried me in! I ride outward so I can see the world. And sometimes she stomps while making funny noises. This often makes me laugh. It's definitely my favorite way to travel!

There were so many children at the party! Lily has so many friends! I was honestly a bit overwhelmed at first and mostly stayed in the front room where there were less people, but Lily still came and sat with me for a bit. She even lent me her colorful quilt with different textures and animals so I could roll around on the floor.

The theme of the party was kitty cats! 

My favorite part of the party was when we sat in a circle and sang songs! I knew many of the songs from class, but there were new ones to learn and enjoy. Everyone singing and swaying made me smile.

And then we sang happy birthday! I have heard the song happy birthday before. I just had my own birthday party a few months ago after all, but do you know how cool it sounds when like thirty people are singing it? It was amazing!

Anyway, after the party, I went home and took a really long nap.

Had too much fun today!

Monday
On Mondays I go to Occupational Therapy with Joyce. She works with me mostly on feeding and how to use my hands. Today, we worked on holding on to the ropes of a swing. I've gotten much better about keeping my grip and pulling on the ropes anytime I lose my balance and start to lean or fall in a certain direction. My ability to keep my head up is starting to come back too.

Gotta hold on!

Then we raced toy cars on tracks to see which car would go the fastest down a spiraling ramp. I was in charge of starting the races by pulling down on a lever. The green slug bug always won no matter which other cars we raced it against.

The last exercise was to fish out strands of Mardi Gras beads from a bucket of rice. We tried putting both my hands and feet in the rice, but it was too much for me. I didn't like so many sensations at once. I ended up just holding onto the beads really tightly while Joyce pulled them through my hands.

After we got home, I had to go get some lab work done. About a month ago I was diagnosed with a pretty severe vitamin D deficiency. And since then I've been taking supplements. So today's lab visit was a follow up to make sure my levels have gone back up. My doctor figured that since I had to go to the lab anyway, she would check other vitamins too. The only problem was that she ordered more tests than can be done on me at one time because I'm only 29 pounds. In fact, the tests have to be split up across three different trips. This was the second one.

But the weather was so nice and the lab was actually not at all far away, so we walked. I even liked being outside! I'm often pretty photosensitive and I can't stand to wear sunglasses. I have learned to just shake my head back and forth until they fall off. But today it was just warm enough and there was a nice breeze and mommy likes to drive the wheelchair like it's a carnival ride so I was having fun on the way!

The actual lab work wasn't that bad either. I squirm a lot, but I don't actually mind the rubber band around my arm or the prick of the needle. I just don't like to hold still! But I didn't cry or fuss at all.

Then we got to walk back home, which wasn't as much fun as the way there as the sun was in my eyes this time, but that's okay.

Tuesday
Tuesdays and Thursdays are my favorite days of the week as I get to go to preschool! At school we spend fifty minutes in the motor room working on motor skills followed by another fifty minutes of circle time where we learn how to socialize and communicate. I was so excited that I woke up an hour early!

Nicole is my teacher and she is the best person in the world at understanding me. I mean, mommy and daddy have learned what I like and dislike, and they are pretty good at guessing what is going on most of the time, but Nicole asks what I want and even waits for me to answer. She knows that I need like 30 seconds of processing time just to understand the question. Then I need more time to figure out how to move my arms and head the way I want them to go to answer.

Nicole is the best!

She does this by showing me pictures. She started last week with a blank white piece of paper and a picture of some lines. I didn't look at the white paper for very long. I mean, who would? There's nothing there! Boring! The lines were a bit more interesting. But just a bit! So then she took the blank paper away and put up a picture of a face. The face was clearly more interesting than just a series of lines. The lines didn't even look like anything.

And finally, she started showing me pictures of activities that we do in the motor room. She put a picture of the swing beside a picture of the ball pit. She then told me to tell her what I wanted with my eyes. That takes awhile, but Nicole knows that so she will wait. I chose to swing on the swings. I choose the swings every week! They are the best, you get to get thrown around and the swing doesn't complain that it's tired or sore and you get to swing with a friend!

Except today my classmates were all late, and I was all by myself. Well, Cho was there! She's in physical therapy at the same time I'm in class, so we often share the motor room together. She was actually really interested in what I was doing on the swing and came over all by herself, though Vicky - her physical therapist - was ready to catch her if she started to fall. She came over and started to help push me so I could go higher. I love going higher and faster! She smiled and pat me on my tummy. She kept pushing me until I accidentally hit her with my flailing arms. I didn't mean to, but they are hard to control.

Then she was upset so Vicky distracted her by taking her up to the top of the slide. When at the top she likes to wave at us on the ground. When we wave back she gets excited and claps.

Then we moved on to the ball pit. It's not my favorite, but I'm getting better at getting the balls off my face by moving my head back and forth until they all slide away. And I do get to spend more time with Nicole while in the pit.

Once we're done in the motor room we have to go to our classroom, which is on the opposite side of the school. We do this in style by racing up and down the hallways on wheels! I used to ride in a laundry basket that was sitting on a rolling board, but in the last few months I've outgrown the laundry basket and have graduated to a scooter board! I tried riding it on my tummy today and I loved it! Nicole, though was worried that I would just roll right off it without a seatbelt or anything. This is probably my second favorite way to travel!

Scoot board races!

Then it was circle time, which was made better because two of my friends arrived: Heather and Laura. We always start by taking attendance, which we do in song! Nicole will ask who's at school today then hold up a picture of one of us and we have to tell her who it is. I do this by pushing a big yellow button that will play my name if I push it. I've gotten a lot better at pushing the button at the right time. Like I wait for her to ask the question before I push it. And when it's my picture, I have to help put my picture on the board by pressing it up against a velcro wall. I've gotten better at getting my hands in the right place to do this.

After introductions we sing three songs. Our songs stay the same for a month and then we get new songs! This month we have Twinkle Twinkle Little Star and Mr Sun, Please Shine Down on Me. Both of these songs have hand motions that go with them that I don't really have down at all, but I like to flail and kick with my legs. For the third song, The Little Teapot, we get out of our seats so we can dance with the whole body. I didn't like this one as much because I get tipped over sideways when it's time to pour out the tea and I had to learn to put my arm down to support myself. I am getting better at that too, but I didn't like it today and started crying. Mommy had to comfort me before I could go to snack time.

The last part of Circle Time is a fun activity before we sing good bye. This time they brought in giant exercise balls. We sat on top of them and bounced or leaned on them to put weight on our arms and legs. It seemed a lot like physical therapy, which made it less fun. I sighed a lot. Usually the ending activity is way more fun. Sometimes we get swung around in blankets or we play with bubbles. Laura loves bubbles.

How is this exercise?!

Shortly after we got home, I felt a seizure coming on. I don't know how to describe exactly what it feels like, but it scares me. My head and eyes dart every which way trying to find comfort, my arms and legs flail, and I feel like I can't breathe. But nothing calms me down. Then everything went black. When I woke up six minutes later, I felt so tired, dizzy, and sore. My seizures have been getting worse lately. I've had three really bad seizures in the last two weeks or so, and this one was the same. I had to get the emergency medicine. I can tell because it makes me feel weird and definitely sleepy.
I tried to sleep it off before Linda arrived.

Recovering from a seizure

Linda is my Early Interventionist (EI) and she visits me once a week at home to help me with my overall progress. Generally, she works with me on my visual coordination. She's also really patient, and is able to discover that I can do things before almost anyone else because she watches me so closely and gives me only the barest and minimal amount of aid. Today, she worked with me in the stander and with a flashing wand to practice visual tracking. I was slower than I usually am because I was still feeling a bit loopy, but I tried hard. And she understood.

Wednesday
Wednesdays are supposed to be my day off,  but mom wanted us to go to the Magical Bridge Park since we didn't get to go on Saturday. Magical Bridge Park is an inclusive park that has some really neat things for people like me that have trouble getting and moving around. The merry-go-round is flush with the ground and you can roll your wheelchair right onto it. Their slides and playhouses are all wheelchair accessible too! And their swings completely enclose you, though they don't have quite enough head support for me.

It really was not the best day for me though. We arrived right when I was hungry and it was so windy and also so bright! I'm really photosensitive and can get a bit overstimulated. And there were so many children there even at 1 o'clock in the afternoon running back and forth. I guess they were on spring break like my mom. But we got to learn everything the park had to offer and if we go again on a morning when there's less people and maybe I can be convinced to give sunglasses another chance, I would probably like it. At least the merry go round because if there's one thing I like, it's spinning in a circle really fast!

Back at home I spent part of the afternoon in the stander and daddy made it more interesting by putting the yellow switch we use in class on my tray. Mommy changed the recording to a song we sing in class too. I am getting better at keeping my head up and I am getting more precise with the button. I was able to push it with only one finger!

Here's a video:

Wednesday is also bath day. I hate baths especially since I outgrew my toddler bath insert, and now have to use the bath chair. The bathchair is a blue waterproof mesh chair that has straps and indents to help me sit the right way. It also imprints little bumps on my legs and my back. And we recently installed a removable shower head. It's the worst! There's so much spray - I try so hard to get away from it completely. I guess I don't hate baths - I hate showers! But we don't have the equipment for me to take baths anymore. But that won't stop me from fighting tooth and nail to not take showers!

Thursday
I woke up excited today as well! I had trouble eating breakfast though so we were running about ten minutes late. This ended up working out as Heather and I got there at the same time! We got to smile at each other in the waiting room before heading to the motor room together. Lupita was there today and the three of us rolled around on a tilted platform saying hello to each other. We then bounced on tires before heading to the swing. I got to swing with Heather, which is something that always makes me smile. But the swing only fits two people so we had to take turns. Mommy kept me pretty occupied though when I had to wait.

Nicole wouldn't let me ride the scooter board on my tummy today. I had to ride on my back today, which she says is safer, but I don't think it's as much fun. You can't see where you're going!

This is safer... and therefore, not as much fun.

During circle time, my teeth really started bothering me. My last set of baby molars are coming in and they are taking forever! In class, I remained unsmiling, sharing only occasional winces, and refused to participate by pushing signs or buttons even when it was my turn. Even the songs and dancing weren't enough to grab my interest. Until the Little Teapot. Then suddenly, the movement I hated on Tuesday, was enough to distract me from my pain and I really liked it today!

This is a wince... not a smile. Though many mistake the two.

For snack time we had Cheerios, veggie sticks, and apple sauce. I mostly just played with the pieces by swirling them around in the sauce as I cannot eat solids yet. I did have a fruit puree though, which I thought was good!

To play or to eat? That is the question!

They brought the exercise balls out again, and like the Teapot song, I really liked it today and had lots of fun bouncing up and down with Nicole! Usually I get stressed the first time I try anything. But when it's more familiar, and I know what to expect I enjoy it more. I guess that just means you should be willing to try things twice!

Okay, this can be fun. 

I went home and rested a bit, but then I had another seizure right before my afternoon dose of medicine. I guess the one advantage to having panic attacks is that mommy knows that a seizure is coming and is right next to me holding my hand before it strikes. This seizure started like a normal one, but then it got strange. Because on the left side of my body I came out of it very quickly, but my right side kept twitching. It only lasted four minutes though and I held mommy's hand in a death grip through the whole things my left hand definitely still worked. After the seizure my right side was completely limp. I used to have partial seizures like this quite often, but it's been a long time. I was glad to come out of it on my own and was quick to smile. But it feels weird when you're smiling with only half your mouth.

I took a long four hour nap after that, and didn't have lunch until six in the evening. But the rest of the day was so fun! I had so much energy from my rest and mommy and daddy both played with me, which always makes me laugh. Stayed up really late and didn't have dinner until ten. I wasn't tired anyway.

Sleeping off a seizure

Friday
I woke up way too early this morning, but could not go back to sleep even with the comfort of a pacifier. But I didn't want to be awake and made that clear anytime anyone moved me or changed my diaper or anything. But after some breakfast the day was looking much better.

On Fridays I have physical therapy. My physical therapist is Lisa, though Joyce usually comes too and they co-treat me together. Today, Joyce wanted to start by readjusting my wheelchair because I've been growing too fast and it's more snug than is comfortable. But this meant I had to sit in it for that much longer! So many reasons to sigh.

We worked on the swing again today. My grip was especially tight and they had a hard time getting me to let go when it was time to do something else.

Lisa worked with me on a side sit where I have to put some weight down on my side or elbow, not unlike the Little Teapot dance. I wasn't in the best mood though and fussed a lot, and just in general struggled to get away. Lisa is nice though, she'll let me take breaks if it gets to be too hard.

When we came home though and had lunch, I was really active again. Daddy was playing Persona 5, which has really good dance music, so I had a Persona Dance Party on the floor. No one could keep me still. I was having too much fun.

Persona Dance Party:

During dinner time, I felt a seizure coming, but it came too fast. None of us were ready yet. This is the first time I have ever had a seizure while I was eating. This is scary because when you're seizing your gag reflex doesn't necessarily work and if there's food in your mouth or throat your body doesn't work to clear it so you can breathe. But luckily my dad noticed my face turning white and my lips starting to become just slightly blue, right away. We moved to the floor and I was placed on my left side - Mommy had the oxygen ready, but we didn't need it. Before they could do anything more, I had come out of the seizure and started to clear my airway myself! The seizure was less than a minute, suggesting that my medicine changes are helping.

After that I had no objection to going to bed early. I had woken up too soon anyway.

Saturday
Today was a lazy day. We did have to make a trip to Target. I spent most of the time looking at the ceiling lights. They have so many lights!

But the rest of the day was pretty relaxing. I watched mommy and daddy play a lot of games. They played with me by swinging me up, down, and around. I love that.

I took two naps and had no seizures. (It's okay to be jealous of me).

Then I spent the evening cracking myself up for about an hour about things you just cannot understand. At least not yet. But maybe someday. Maybe someday.

It may be upside down at times because mommy was distracted by my cuteness:

Thank you for sharing my week with me. I hope you enjoyed the journey and had a good week too!

What Makes You Smile?

This was the first question Cyrus's case manager asked at his last IFSP (Individual Family Service Plan - the preschool version of an IEP). Her exact words were, "What does he do that makes you smile?"

She's asked this question at pretty much every meeting, and quite honestly it was not a question that I particularly liked answering. Having attended dozens of IEP meetings as a teacher, the question is usually more along the lines of "What are the strengths of the child? Where is he successful?" and so the rephrasing it to the more gentle, "What makes you smile?" felt like an admission that he wasn't going to be successful or have strengths.

But this time, I was only delighted to answer - more than ready to gush about him. The honest answer to that question is incredibly simple. I love it when he is smiling! When he is laughing! I love it! I just eat it up. It somehow never gets old!

So that's when we're moving around and spinning in circles.

Or lately right when I come home and pick him up he will often grin right up at me! This is new!! And it is exciting!

Or when he's staring so attentively and interestedly at another child - usually a classmate or a cousin. Someone that he has come to recognize - he doesn't actually pay much attention to kids that he's only met once or twice.

Or watching his dad play or spend time with him. That never gets old either.

I mean really, this is the laughing giggling side of Cyrus that I wish everybody got to see. The one I feel compelled to share with everyone. It can be a bit tricky though, as usually he is most like this pretty early in morning before we've managed to get to anywhere, or in the evening about an hour or so before bed when we're usually at home again. Throughout the day he tends to be a bit more stoic. It has been suggested to me recently, that this timing may be do to his seizure meds, though I myself had not really made this connection. I just figured he was a night owl like his mother, and morning person like his dad. That the rest of the day was just sort've shrug worthy. Haha!

I don't even know why it is so important to me for others to see him like this. I know that I covet his smiles and giggles more than anyone else anyway. But still, insisting that we try to make him laugh while during visits with others - is my way of showing him off, of taking pride in who he is, or letting others see his true personality.

But Cyrus does not always cooperate.

I even commented to him once, that most people probably think I'm a liar when I say he is so incredibly happy most or a lot of the time because most people aren't around to see it.

And his face split into a huge grin and he immediately cracked up as if he found it incredibly amusing that I had taken so long to stumble onto his evil plan. He was laughing so hard and completely out of no where that I joined in, and then he laughed only harder and we had one of those truly rare times where he was just socially laughing, no spinning required.

And yeah, that just makes me smile!

It's a Rare Disease

Apparently the last day of February every year is Rare Disease Awareness Day, so I thought I might share what having a rare disease in our family means to us.

First, I have discovered that I actually prefer the term disorder, as it's simply more accurate. A disease makes me think of some outside bacteria or virus that is invading your system, whereas in Cyrus's case, it's his own body doesn't know how to function properly, and for that reason cannot truly ever be cured, though there is the possibility that it can be treated.

But therein lies the issue. When something is rare, it affects less people. And that means generally, that we know less about it. This is because we have less examples to study, and there is also just less demand for research to be done.

And in Cyrus's case it's beyond rare! When he was first diagnosed we met a lot of neurologists - entire teams of them! And a few metabolic geneticists too! They would all essentially say the same thing upon meeting us:

"I had never heard of Adenylosuccinate Lyase Deficiency. I read a lit review this morning and honestly it's a bit beyond me - understanding the underlying mechanisms of this disorder requires a post doc after a post doc."

That's the level of specialty we're talking - only a handful of medical researchers have looked into it at all, and those that have, are trying to understand the inner workings of metabolic processes that requires so much expertise in so many different specialties that not many - even those within the field - are qualified to do this work at all.

And if his neurologists and geneticists both have never heard of it, there's zero chance that any of his other doctors and specialists have. And now - 18 months into this journey - Kyle and I probably understand this disorder better than anyone on his care team with the exception of the neurologist.  We are often the ones answering questions.

When your disorder is so rare it doesn't show up on rare disease lists or when you're like case number ten (plus or minus two)* in all of the United States and there are less than a hundred living patients world wide there is almost no reasonable expectation that the situation would be any different, but it is discouraging to know that because we don't understand it, and because there's little demand that research be done, there's virtually no viable treatment options.

Instead, we are treating symptoms. And I don't want to complain about this because we are receiving absolutely fantastic care and services. It's just frustrating that being one in a million (literally) means that there's less options. That if you want this research to be done, you almost have to fund it yourself (Or you get your Facebook group to bombard a university with "independent" requests for this kind of research to create the perception of demand). And when you're pouring most of your resources into caring for the child itself, that's hard.

And all of it is just so slow! And it feels like none of it is ever going to be fast enough to help my child. But we've requested to participate anyway. Maybe by participating in the research we could help someone else's because as rare as this is, I don't think the number of those afflicted is ever going to go down to zero.

So I guess I hope your take-away from this is that if you know of someone with a rare disease or disorder, know that you may be of a very small minority that has even heard of it! And because of that you are in a unique position to help the cause by creating that awareness or demand for researching treatment options.

Because the thing is... that one disease or disorder may be rare, but having a rare disease or disorder is not rare at all. These rare conditions actually affect about a tenth of the population. We just don't all have to struggle with the same thing.

...

General Update: 

Cyrus has learned to cry again! And contrary to popular belief this is a good thing! It means he can communicate when he is hungry or when his mouth hurts. As right now I believe we are in a record never ending teething crisis. Apparently, according to one of his teachers, because he doesn't chew anything (which allows the teeth to erupt more quickly) teething may be taking longer than normal!! Ugh!! While he's in pain, he is also way more likely to arch backwards, so I've not seen as much of the beautiful head control I've been gushing about, and my wrists are feeling it again. But we've only got four more molars left!! Hopefully it will be done soon!

The good news is it's starting to warm up again - and we've made it a whole three weeks staying healthy, so he's been going to all his classes and therapy sessions again. This week he got to try dad's Indian butter chicken curry sauce! And this seems to be the first non-sweet thing that he's actually liked! Yay!

We also celebrated his birthday last week - we unfortunately didn't get to go to the inclusive park due to the rain, but we still got to play with lots of friends, balloons, eat raspberry cheesecake, and we concluded the day with a never-ending giggle fit! Quadruple win!

...

*I base this number off a patient directory that catalogues all known diagnoses of this disorder within the world, but you have to elect to be on it, which we did. There may be others that have not, or were not given the option because their doctors didn't know about it because this disorder is freakishly rare!!

Celebrating This Moment

There was a period when the news was fresh that I would explain in excruciating detail to anyone willing to listen exactly what Cyrus's disorder meant for him. But, though I have hinted at it, I have never explicitly stated online that Cyrus's genetic disorder is a life limiting condition. It is a fact that is difficult to talk about, but at the same time I need to talk about it.

When Cyrus first started manifesting seizures I went to every appointment and asked the same two questions. What does this mean for Cyrus's development? And what does this mean for his life expectancy?

I needed answers to these questions! It didn't matter what they were. The scholar within me finds uncertainty to be the greatest source of anxiety. And I've always faced every challenge in my life with hours and hours of research. Because even when it's terrible news, knowing what to expect makes any situation easier for me to face and accept.

But when I asked these questions, I got really vague answers about how every thing falls on a spectrum and there were simply not yet enough indicators to know. At one point I was told that he would be impacted and that was a conversation we would have to have and it was a good thing that I was asking, but this doctor seemed unable or unwilling to have that conversation at that moment.

I don't know if they didn't know (it is a freakishly rare disorder that is apparently difficult to understand), or if they just didn't want to tell me out of some sense of compassion because the news was not good.

Because when I finally did get an answer - it sucked. And I mean soul crushingly so.

It was an in-patient neurologist with a specialty in brain tumors who finally answered this question. She had followed us through every hospital stay and so she knew us as well as an in-patient doctor really can. She presented me with two possible scenarios.

She told me that according to the literature on ADSL that she could find, that typically the disorder followed two tracks. A moderate track, where patients manifested seizures around two to three years of age and then often lived into their twenties with both significant cognitive and physical impairments. And a severe track, where patients manifested seizures at about a month of age and lived to maybe two or three. She told me though, that Cyrus was presenting between these tracks, but based on when he developed tonic clonic status seizures, she thought his life expectancy was likely to be closer to the two than the twenties.

I didn't make it all the way through her explanation. There were wracking ugly sobs - I felt like my chest and throat were caving in on the themselves.

But I thanked her. I thanked her for giving me an answer. Because despite the fact that the ground had just opened up underneath my feet, threatening to swallow me, I also felt relief. I felt comforted because I now knew what to expect.*

Learning this information though also triggered a grieving process. In some ways it was like Cyrus had already died. And in some ways something did die - my dreams, hopes, and expectations for him, his life, and my experience as a mother. I didn't think I even had expectations; I thought that I would accept him as he was no matter what. But this news was not so easy to accept. And so I grieved.

And I was so angry that I was spending all my time grieving something that hadn't even happened yet. That here he was living, happy, and I was missing all of it! But these emotions needed to be processed. I couldn't just snap my fingers and be over it no matter how much I wanted to be. But the passage of time has helped and Cyrus has taught me to be present once again.

Because you have to learn to be present within the moment when that moment might be all you have.

Cyrus is two years old today! Right now we are so not grieving. We are celebrating! Because every single day is a gift to be treasured. And today is an opportunity to stop and reflect - to stand in awe at all the amazing things Cyrus has experienced and accomplished. He has surpassed so many expectations this year.

He has maintained better seizure control that his neurologists thought possible! He has continued his slow steady progress in becoming more coordinated. His head control has improved immensely! And you should see him roll down a wedge these days! He's so fast you can't catch it on film.

He is such a trooper, surviving never-ending bouts of colds and teething. As parents, we are spoiled in this regard.

He is becoming so social! He loves other children - he gets more energetic and responsive when visiting with his cousins or hanging out with his classmates. And is learning to say hello by pushing a big yellow button. He also seems to give me hugs by hooking one arm around my neck. I am definitely a fan of this development!

As always, he loves movement! His favorite things are swinging, falling, spinning, and dancing. All of which are even better if you are singing at the same time! The last two nights he has especially been in a joyful mood. It's almost like he knows that today is his birthday!

So we are cherishing this moment. It is beautiful.

Today is Cyrus's birthday! He's two! And that's just impossibly crazy! Crazy awesome!

...

Last year, so many of you - my dear family and friends - saved our lives by donating financial support that made it possible to quite frankly keep paying rent and pay for prescriptions at the same time. We are in a far more stable place now with a new job and supplemental insurance for Cyrus. We cannot thank you enough. I'm so delighted to say we do not need this direct support at this time.

So if you would like to help support Cyrus on his journey and honor him on his birthday, you may donate to this research fund. So far, Dr David Patterson has used these funds raised primarily by ADSL families and their friends to analyze how ADSL deficiency affects the activity of over 20,000 genes. The experiment results have suggested two additional lines of research they would like to explore. One is to see whether ADSL deficiency causes cells to grow more slowly than other cells. And to check if ADSL deficiency is causing actual structural damage to cells that make it hard for them to attach to other cells or surfaces. His team has started examining the second possibility using a new microscope. They have seen evidence of structural abnormalities. These microscope experiments were done using human ADSL deficient cells. These cells will allow researchers to easily produce human cells with various ADSL mutations, hoping to discover why some people are more severely affected than others.

The better understanding of cell behavior is the first step in the possibility of developing potential treatments to address the underlying cause, rather than just a treatment of his symptoms. 

These kinds of studies are currently Cyrus's best hope of continuing to defy the odds. Any little bit helps - you might just donate whatever you would have spent on a two year old's birthday present.

...

*Ironically now, I have learned a lot more, collected more anecdotes (there aren't that many cases to go off of so really all the papers seem to be case studies), and have learned that the progression of this disorder is not as well defined as she laid it out, and that her outline had more to do with intractable epilepsy than adenylosuccinate lyase deficiency, but at the time it really was what I needed.

Dancing with the Sun King

Cyrus's head control has improved almost over night! And then it just kept improving. It is exciting to see such improvement, but it is also shocking at how much of an impact this new ability has on the daily routine. This is simply due to the fact that he is so much easier to hold and pick up.

He doesn't arch his head back nearly as often or nearly as hard. Before when I had to pick him up by the arms, I had to have my fingers arched toward his head supporting it. This was killing my wrists - many times a week they would start to ache and I would have to baby it for days to recover, which is difficult when feedings and bath still have to happen. But now, I've had two weeks with barely a twinge because Cyrus has been doing most of the head holding himself.

His occupational therapist has been immensely pleased at his progress two weeks in a row! The first time, it was like "Where did this come from?" and the second week, "Wow! He's gotten significantly better still just in the last week."

Here are two videos so you can check it out yourself:

Playing with mom! 

Look at this head stability!! 

So Cyrus and I have been dancing a lot! Because he loves the swirling and because it's not so hard on my wrists anymore so I can actually last for a few songs in a row! Though I have realized, much to my own amusement, that dancing now takes more coordination. I try to let him do as much head balancing work as I can, which does mean I have to allow him some head space to wobble a bit, but I also have to be ready to dodge to the side whenever his head starts to drop forward so his forehead doesn't slam straight into my teeth! And I have to be poised to catch his head if he does arch it back unexpectedly. Because if he does it too fast he can throw off my balance. And we do not want to tumble over!

But we'll keep practicing until we master the tango or something!

And in the meantime, we hope that everyone appreciates how awesome it is to simply be able to hold up your own head! Haha!

Hanging out with cousin Griffin who already has awesome head control!