Holiday Travels

Cyrus handled the long two and three hours drives to visit various sets of grandparents and aunts and cousins like a champ! Meaning, he very strategically slept through most of them! And he seemed to love the visiting itself. In new places, he seemed more energetic and active than we've seen him be in weeks! With lots of flailing, more cooing, and just being more responsive in general! I very much think that the new places and faces were incredibly helpful and stimulating and maybe serves as motivation for us to take him out more to visit others rather than having others come to see us all the time (though that's admittedly easier).

It was also super useful to watch some moms who have gotten to experience playing with actually responsive infants to get new ideas for how to play with him! He didn't sleep quite as well on the trip, but who does when you can't sleep in your own bed.

And once he came home he had one of the most successful visual therapy sessions yet! He was holding his head up, playing with toys, and adjusting to changes in position well. And after his therapist left I realized that he does way better in the supported sit when I prop him up in the chair as he didn't even try to arch his head back for a good 5-7 minutes or so.

Yesterday, was a little harder. Cyrus had six seizures total, two of which were stronger than the ones we've been seeing lately that left him somewhat out of it for the rest of the day. And three happened in the evening relatively close together, requiring a dose of emergency medicine. Though giving it to him made me realize that I couldn't remember the last time we had to do so! I had to go back and check, and it's apparently been almost four weeks!!! 

Today, he's been really sleepy - and hasn't really been awake for more than two hours in a row all day, but he's waking up for all the meals, and is much more aware and responsive when he is awake than he was yesterday.

The last two days have been rough, but I wonder if they would've been considered that without the preceding absolute fantastic week prior!

Off the Schedule

Cyrus is currently going down on one of his anti seizure medicines and has managed to maintain his low seizure count with only 2/3 meds at full dose. Our hope is to completely eliminate it by the end of this month. This has been helping him to be more alert when he is awake and is helping to increase his appetite!! So he can hopefully gain more weight! 

We have received a tumble form chair on loan that will hopefully help with his posture and ability to sit upright. We get to keep it until he grows out of it! 

I made the mistake of letting Cyrus get off the schedule during Thanksgiving break and he seems to be responding to our attempts to get him back on the schedule by becoming totally nocturnal! Which is driving us crazy! But in general things seem to be going well. Excited for getting to spend another few weeks together over winter break!

Establishing Vision Baseline

So if he wasn't teething before, he definitely is now! Can actually see the little white lines under his gum. Makes him less than thrilled most of the time. How long does this last again? 

Cyrus got his eyes checked this last week to establish a baseline. The ophthalmologist taught us a few new things. The fact that he hasn't been following or making eye contact since his huge seizure in September may not mean anything when there is a physical fine motor delay. Apparently moving the eye takes like coordination from six different muscles all moving with precision. And seeing as we KNOW he can't coordinate his muscles much it makes sense that he might not be able to move his eyes either. Eventually, when he has better head control, we should watch for him moving the entire head to look at something as moving the head is way easier than moving the eye, at least in terms of coordination.

Apparently the fact that he has been sleeping 8-9 hours in a row at night (when he's not teething!!) is a really good sign as it means light is at least getting to his mid-brain and establishing a circadian rhythm. Apparently people who are blind often only sleep three hours at a time or so (especially as babies) and then are totally awake for another three hours before wanting to go back to sleep. 

Anyway, he gave us a referral to a vision specialist who works with visually impaired children to develop things like coordination! We also get to start real physical therapy next month! So maybe he'll eventually stop wanting to arch his head back constantly! (A crucial first step to being able to sit up! But hey!! He doesn't tend to fall left or right anymore when we prop him up in the chair!)

Returning Milestones!

It's been an encouraging week! A few developmental milestones that had disappeared since the September hospitalization have made a reappearance this week. 

He's started holding onto things again, showing the step-down reflex (where he looks like he's walking or jumping when you lift him up), and a social smile!! 

His vision still seems to be in and out and he's getting this weird partial seizure that makes his face twitch (rather than his limbs), which freaks me out. But overall, the count is still low and has only needed emergency medicine once in the last two weeks!

Just an Update

Cyrus is continuing to do well in terms of seizures with about 1-2 seizures a day. There was even one day where he went completely seizure free about a week ago!

This week has been a little rough. He slept through most of his cold, but is now showing those first signs of teething. Yay? 

His other latest development has been to start occupational therapy, which is specifically to help him learn to eat! Apparently, things like eating are challenging when your limbs (and tongue!) have minds of their own. Abnormal tongue movements is actually where his choreiform movements were first identified by the neurologists back in September.

Cousins!

Cyrus had a visit from his cousin, Tangerine! She kept telling us that "Baby Cyrus is so cute!" while she stroked his head soothingly, and anytime he started crying she was quick to reassure us that "he's okay mommy." He even seemed to look straight at her a few times! 

His seizure count has stabilized around 2-3 seizures per day. And daddy proved today that he can still see after shining bright neon pink flashing lights in his face... he was very startled at first, and then pretty interested. smile emoticon

And now he's passed out with the second full blown cold in his life.

Learning to Cry

Cyrus's seizure count is way down! Over the last three days he's only had one per day! And on two of those days we're weren't even totally sure because they were so weak and subtle. 

Which gives me so much time to worry about other things - like the fact that he seems to have learned to cry. And since he usually never cries, when he does it's just so sad... 

The infant specialist that works with him every week suspects that he is cortically visually impaired, which means that his eyes are perfectly fine, but that his brain may not process the information correctly. She thinks that his vision goes in and out a bit - or that he sees in a series of still shots - the motion in-between may be hard for him to catch. I guess it's something new for me to research!

Smiles!

Cyrus has managed to stay home all this last week! His medication is working well enough to prevent any major status seizures, if not all of the little seizures and he recovers from them quickly to his happy smiling and laughing self! Mostly, we're just experimenting with amounts and types of meds.

And only after a week and a half of trying I finally got a picture of that smiling face!

Physical Therapy

Cyrus had physical therapy today! He did super well!! He was purposefully grabbing things held within his reach and was able to pass an object from one hand to the other. He finds tummy time (with a towel under his arms so he can't tuck his arm to roll away) exhausting! But he worked super hard - his reflection is apparently pretty cute (who knew?!) and the second his therapist left, he fell asleep where he lay!

Best Day EVER!

Cyrus had the best day yesterday! He spent time batting at dangling toys, babbling in his own unique language, making faces at his awful tasting medicine (he's never done this before), playing and splashing in the bath (something he usually hates!), and making himself laugh! 

He did have a short seizure this morning. But it didn't turn into a status seizure (a prolonged seizure lasting more than five minutes) and he came out of it on his own, immediately took a 27 minute nap, and woke up ready to play once again!

Back home!

Today Cyrus participated in a swallow study to insure that he was feeding well and not inhaling his food into his lungs. He passed with flying colors and so will not need a feeding tube at this time. He has been taken off the IV fluids and was laughing up a storm for daddy. Assuming he continues to do well overnight, we will be going home tomorrow with our new meds (that have worked all week) in hand and our new clearly established emergency protocols!

Cyrus did well off of the IV and we've finally made it back home!! We're settling in as the cats treat us suspiciously. 

We also got to see the actual pictures from Cyrus's MRI this morning which showed the damaged basal ganglia and thalamus, however all his higher brain functions are intact so he is likely to continue to cognitively, socially, and emotionally mature - just with weird sporadic uncoordinated movements interrupting him from time to time.

MRI

We got our MRI done yesterday. The results explain a lot of the new and strange behaviors in our son. Basically, he looks like he's conducting a symphony all the time with the way he waves his hands around constantly. Apparently, this is not voluntary movement and is likely due to damage done to his basal ganglia. We're currently exploring medication options to help him control this. Luckily there are some meds that help control this and fight seizures simultaneously.

Spoke to Soon

You must understand, Cyrus just doesn't cry. Not really. He fusses on occasion and whines, but crying out like the world has ended - he just doesn't ever do that.

But he did just that on Friday night a few hours after a much shorter seizure and vomiting (neurologists think that was related/caused by the seizures), and then again after he was recovering from the emergency medicine. So on Saturday morning we headed back to the hospital for the fourth time in this little guy's life and the second time this week for a prolonged tonic clonic seizure. 

I have never heard him so miserable. 

We learned that it feels like it takes forever for the ambulance to arrive if you call 911. However, if you drive yourself, admission takes longer and the ER nurses don't have nearly as much urgency as you feel they should when your child is actively having a seizure. An ambulance might be faster.

Uncle Victor and Aunt Michelle were visiting when all this went down. We were so grateful for their presence. Victor, you should know that your wife is AMAZING under pressure. She stayed so calm - she was the center to my hurricane on Saturday on our drive over.

And good thing is, he's been a lot happier and more himself today.

Asking for Help and Support

This is something that is difficult for me. I don’t really completely understand where this came from, but I’ve always expected myself to be independent. I compulsively almost feel like I have to prove myself. And in the past I have constantly worried that asking for help would be perceived as a sign of weakness or incompetence. 

In college, I learned that when I asked for academic support and help, not only did I perform better and retain more, but I also developed relationships with professors who suddenly respected me more! 

And in career, I learned that asking for help led to solutions that made my classroom run more smoothly and effectively. Students learned more and I was not nearly as stressed. Double win! 

I also know that when others have come to me for advice or help I was never once irritated. Never once thought they were weak. In fact, I often thought the opposite! That their eagerness to learn was exciting and refreshing. Or their vulnerability touched me in a special way and taught me to see other sides of life and be more understanding and compassionate in the future when others didn’t confide. 

I have also learned that when colleagues don’t ask for help and then messes something up – THAT is really annoying. Cleaning up afterwards is often way harder than helping initially.

But even with all that, it’s still hard for me to ask. Especially in personal realms. I will share anything and everything with just about anyone. I wear my heart on my sleeve and my vulnerability has earned me way more friends than it has ever caused harm. 

But in the past, I tended to confide only in two instances: 1) I was already on the other side of the issue – and had it figured out to my satisfaction, or 2) had been pushed to the edge and had fallen apart so I didn’t really have another option. 

Becoming a mother changed a lot of that. Or maybe it just made qualifier number two a chronic condition. 

Cyrus was born via c-section. I wasn’t really able to move around for a week or two there. And I was so completely exhausted for weeks after that! Suddenly I needed help because I couldn't do it myself however much I wanted to or thought I should be able to. I hated that! I hated the dependency. I honestly felt inadequate. 

But I also felt humbled. Because support came out of the wordwork! Family, old dear friends, new friends, work friends, old friends I hadn’t spoken to in years, others that I felt I barely knew. They just showed up in my life and gave their time, their gifts, lots of amazing food. Listened to me with patience as I whined about struggling with dependency. Told me I was ridiculous and that I was amazing for everything I was doing to care for my son and myself. 

When Cyrus first started having seizures and then was diagnosed with his genetic disorder at four months, we got a second wave of that support. And again, I felt so humbled and amazed at the sheer number of people that made those offers of love and support. At the number of people that genuinely told me to just let them know what I needed. 

And I wanted to take them up on it. I know that I need the help. I have felt many times in the last few months like I was drowning and found myself desperately praying for help. But I feel like that kid in class that is so completely lost that she has absolutely no idea what to ask for! 

What do I need? I don’t need you to run errands for me. In fact, these mundane tasks are nice. Because I can actually complete them! Can feel like I can do or accomplish something when much of the time when watching my son go through a seizure or get an iv placed, all I can do is watch feeling inadequate and helpless. 

I don’t need you to make meals for me (my husband may beg to differ on this one as he’s been doing 90% of all the cooking and 99% of dishes! He’s awesome like that!!!!). I’m perfectly capable of cooking though. I make a pretty good stir fry or two if I do say so myself! 

But then my fabulous husband was quick to point out that maybe I didn’t need the food or the cooking. But I do need the company. Desperately. This whole experience has felt incredibly isolating and I feel inadequate to the task at times. I need others there to hold my hand as I hold my son’s. 

And there’s times in my head, where I truly doubt – wonder how we’re going to do this because it’s not going to go away – Cyrus’ disorder is genetic, neurological, and chronic. When we’re in the hospital due to a prolonged unending seizure for the second time in one week, I find myself wondering how he’s going to live his life if he’s always in the hospital? How are Kyle and I going to live ours? How can I keep doing my job well if I always have to be here to feed and monitor my son? But I have to keep working! How else are we going to pay for all this? Because even with my salary we’re not breaking even anymore, and we won’t for at least 2-3 years until all the student loans are paid off… 

And it’s not like you can ask all these supportive people to give you money… can you? That has always felt like a taboo to me. Maybe because I’ve never had a lot of it to give so it just seems like a lot to ask. And I never want anyone to think I am their friend for only their money. And plus, I’m obsessed with that whole “must be independent” thing, which probably goes double for finances. If I can’t support myself and my family, I must be being irresponsible or something…

On a particularly frustrating day I confided all these feelings to a friend. Her reaction? She goes and sets up a fundraising campaign for my son! And sets the goal to ten thousand dollars!! And I just can’t imagine that. I can barely conceive of asking for that much let alone being handed that much. 

And again I feel humbled. Honored. And incredibly blessed to have people that will push right past my own issues to make sure I DO get the support I need. Even when I don’t feel comfortable asking for it. 

Because if I’m being truly honest with myself and all of you, that IS what I need. 

I need your time. I need to not be alone. I don’t do well alone. I need to talk about everything that’s happened. That’s how I process and release. And I need the emotional support and unconditional love and understanding. And if there’s one thing to be grateful for in this experience, it’s to realize that I am SO incredibly lucky to have that in my life in spades!! But you should know that I’m overwhelmed. I probably won’t contact you first. But I’m telling you to invite yourself over! Or ask us to visit you! We NEED the human contact!

And I need financial support. I actually did some financial planning (something I was scared to do because I figured it would tell a bleak picture) in trying to figure out how to stay near Stanford’s Children’s Hospital. And we’re in the red for the next two years. However the good news is, if we can get through the next few years all when all the student loans will be paid off and hopefully that extra leeway can cover what is likely to be high medical expenses. 

So if you can do either or both of these things for our family, know that I am totally floored. And grateful! And probably crying (in a good way).

And if you can do neither of these things, know that I know I am still lucky to have you in my life and honored to be your friend.

Cyrus's Fundraising Campaign

I want to end by saying thank you to those that didn’t ask what I needed, but just started offering things (like cleaning, meal plans, babysitting, couches, etc.). I have never felt so vulnerable and fragile in my entire life. But I honestly have also never felt so lucky, taken care of, and appreciated in my life either.

Back at Home!

Finally back at home!! Showing off all the war wounds and scars! 

Each orange band-aid was an IV. The white bandage is where the bone IV was, and he actually had one in the other foot too, but it stopped working when they attempted to draw from it and that band-aid fell off Tuesday evening.

We were sent home with rescue medicine so if this ever happens again we'll have something on hand to help him. Apparently it works better the earlier it is administered.

We're following up with the pediatrician tomorrow to make sure he is recovering well, and with the neurologist on Thursday next week. He'll probably have to get another EEG as well. Life is never boring!

(I've learned that you can become a trained EEG tech in 48 weeks with 12k dollars - 3k per quarter! Only prerequisite is a high school diploma if anyone is interested!!)

Hospital Update

Feeling much better! He kept saying "go!" so I asked him "Go where?" At which point he said "Ho!" really enthusiastically. I figured this was short for "home" and told him I totally agreed!!

He was feeling much better by day three, but definitely still out of it. He was referred to as a drunk baby more than once on this visit. Apparently he may be out of it for a week or so...

But if an adult seized for 90 minutes straight, apparently it could take like a month to come out of the fog! Babies are super resilient by comparison!

He had periods this afternoon of just total endless flailing and babbling. I couldn't tell if he was excited or agitated. Maybe both! 

Interestingly, in the last two days he's been super active when he's awake, and then falls asleep like instantly. It's like "I'm awake!!! So awake! Awake! Dead asleep!" It's kinda amazing.

Back in the Hospital

 After having been seizure free for four weeks, Cyrus had a totally different type of seizure Tuesday morning. He woke me up early because it sounded like he was congested and when I came to the crib he was twitching in a tonic clonic fashion (apparently watching all those youtube videos when the spasms first happened paid off in more ways than one!), also formerly known as a Grand Mal seizure is the typical type of convulsions that people actually recognize as seizures. 

It lasted five minutes (which felt like two!) before I called the on call neurologist and she directed us to call 911 so that he could get the rescue medication as soon as possible as anything lasting longer than three is considered an emergency. Took the paramedics less than 10 minutes to arrive and his convulsions had lessened by this time, but had not stopped, they loaded him up, gave him some meds (that he didn't respond to), and took us to Stanford in style.

They gave him two doses of adavant (might be spelled horribly wrong, but it's a sedative) and he was still seizing, so they had to put him under completely with a paralytic, which required the use of a ventilator as he couldn't breathe on his own with this.

He was seizing for at least an hour and a half before they put him to sleep. But even after being put to sleep, they weren't sure the seizure had stopped. They said it was possible for him to still be seizing and just not be able to see it because he was now paralyzed and no longer able to move. So we had to get another 24 hour EEG.

For the record, he did stop seizing! And he's okay now and off the ventilator! Yay!

Update:

Apparently, in an emergency situation when they can't get an IV in fast enough, they just drill a hole into your leg bone. I haven't reacted very strongly to most of Cyrus' medical treatments as most of it hasn't been that invasive (just LOOKS scary). But them drilling a hole into his leg sent me into tears! 

Everyone was quick to assure me that it doesn't hurt as much as it looks like it should AND that children and babies heal really fast (compared to adults)!

My takeaways from that reassurance were pretty much:
1) So it DOES hurt.
2) No one defined "really fast".

But seriously, it was somewhat reassuring and honestly in retrospect, quite amazing that they can do this in an emergency situation.

Where to find a rattle?

Cyrus holding his head up for realsies!

He fell asleep at Target - so I couldn't try out the toys I want to keep buying him. We're looking for a friggin' rattle! You wouldn't think that would be that hard to find! But none at Toys R Us or Target. Was avoiding the internet because we're looking for something that is the right size for his hands and grip. Will have to ask the physical therapist where she gets all her really cool toys!

Impossible Cuteness

Just being impossibly wise and cute at the same time. Not to mention messy! 

New stroller! Woo!

Part of Cyrus's physical therapy routine is to be held sitting up with back support (so he can't arch his head backwards but still has to balance it in the other directions). 

Also working on rolling over and turning to the left, both of which are getting better. He rolls over consistently now with only a slight repositioning of one arm.

Look at that! He already knows how to pose for selfies! 

Normal Days

So I have been giving him all kinds of toys: teddy bears, teethers, colored wooden balls, Ty beanie babies, rattles, and dragons. But he's indifferent to it all! Then I hand him Sailor Moon and he won't let her go! He pulls her hair, twists her and pulls and clutches onto various limbs (or odangos)... 

Unlike his father, he's not embarrassed to like Sailor Moon! Haha! Yay for Moon Prism Power!

He's been starting to hold his head up again. Though he still doesn't actually like it. And when he succeeds it usually only is for a few seconds at a time.

 Now that he's used to his meds and they seem to be working, he's been smiling and cooing a lot more again. Look at those cheeks!

This was right after the first bath ever that he didn't seem horribly upset about. There was no violent escape attempts or tantrums. Just mild fussing when he was getting dressed, which is somewhat normal when dressing without a bath. The world definitely did not end. smile emoticon

Metabolic Geneticist

We've now met a biochemical geneticist with expertise in metabolics. He has informed us that Cyrus is their first patient with this disorder (not surprising), but that we're going to reach out to researchers in Europe who have encountered this before and other experts in this specific nucleotide biosynthesis pathway (because the brain is so complex that we have to specialize that much!). Cyrus is also being put on a patient database so that doctors that are researching this can find us.

And Kyle and I are being referred for genetic testing because apparently there's a very slight chance that we aren't both carriers. There's a possibility that he copied the gene twice from one parent. (I'm not holding my breath).

A Seizure

So, I didn't mean to take this picture. I was trying to get his grumpy face and I just happened to hit the button in the middle of a spasm. So this is Cyrus during a seizure. 

I've actually been meaning to post a video. This is a link to the original video we sent his pediatricians when all this started (he's so tiny!). I share it with you for educational purposes. If you ever see an infant or toddler do this, please say something to the parents. So often, these go undiagnosed and untreated for weeks and weeks because they don't look like regular seizures ('cause they're not!).

Adenylosuccinate Lyase Deficiency

So... we finally have a probably culprit for Cyrus' seizures. Turns out that he has a freakishly rare genetic disorder called Adenylosuccinate Lyase Deficiency, which means he doesn't make an enzyme that needed to make nucleotides (for DNA replication and transcription). Needless to say, it's important stuff and it will affect him both intellectually and physically. 

Emotionally, it's been a rough week, but it's hard to stay angry or depressed at the world when looking at this face!! Because he has been taking the news rather well - he's been smiling and giggling all week long! He's just that awesome!

Latest EEG

His spasm seizures did come back as he was weaned off of the steroids so his dosage has been increased again and another medication that can control the spasms has been added because he can't stay on the steroids long term. And once they are gone again, we will go through a slower step down with the steroids. 

The scan though, did not show hypsarrhythmia again, which means this latest seizures have not been enough to mess with his brain waves too much. He just has some high voltage spikes - whatever that means...

He's been pretty happy in general (except when he has to get poked at by doctors and EEG techs)!