Crypto--what?

A month or so ago, Kale's doctor at UAB had mentioned to us that Kale's diagnosis included something called Cryptophthalmos (hidden eye)--a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids (simplest definition I could find courtesy of Wikipedia). Dr. Scruggs briefly went over it but I'm pretty sure she was telling us this after one of his surgeries so some of the information kind of went in one ear and out the other.

Since then I have done all the research I could to find out more. Unfortunately, there isn't much out there that isn't associated with something called Fraser Syndrome (which I was pretty sure Kale didn't have). So I had e-mailed Dr. Scruggs a week or so ago with a bunch of questions that I have been meaning to ask (but somehow always forget to ask). She had contacted me and let me know that she received the e-mail and was doing some research and would respond once she had all the correct information--cryptophthalmos is apparently exceedingly rare (supposedly only a little over 100 reported cases, around 30 of them isolated--crazy, huh?) and certainly not anything she has ever dealt with.

Well, today I finally got her e-mail. Kale has what is called isolated complete bilateral cryptophthalmos, which is, (quoting from an article Dr. Scruggs quoted from) "Failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal [eyelid] structures.  Ultrasound may identify a vestigial ocular structure or cyst within the socket." 

Because his is not associated with any syndrome (that we know of--at least not with Fraser Syndrome), his crypto is isolated. 

There are 3 different types of cryptophthalmos: complete, incomplete or partial, or abortive. Dr. Scruggs sent me info on all types and his is the complete type (which I described a bit ago). 

One of my questions was whether his microphthalmia was a result of the cryptophthalmos or the other way around. She said that if an eyelid is not properly formed, then the globe (eyeball) will be abnormal as well. So, the microphthalmia is a result of the cryptophthalmos.

How does cryptophthalmos happen? Here's what Dr. Scruggs said: 

"From what I have read, cryptophthalmos results b/c of an early embryologic failure of development of the eyelid folds.  Development of the eye is totally dependent on having a normal eyelid, so if lid development fails in the embryo, the globe cannot develop normally.  I do not know why Kale has a small (microphthalmic) eye on one side and a full-sized (but still abnormal) eye on the other (for which I do not have a term--there was no cornea, only sclera)."

So. There you have it. Kale's diagnosis is actually Isolated Complete Bilateral Cryptophthalmos (with Microphthalmia). I don't know if he's still considered as having bilateral microphthalmia--she's saying his left eye is full-sized (but abnormal), but we've been told that while it appears to be normal in size, it is still microphthalmic. 

It is nice to finally know everything. I always just thought Kale's microphthalmia was more severe than others--and we've certainly had issue after issue with his lack of eyelids. Turns out it's just a more difficult situation with him because of something else entirely. Not that it's a good thing, but it makes it a little easier to understand. For me, anyway.

It's been a long December...

...and there's reason to believe that maybe this year will be better than the last.

Someone reminded me of that song recently and boy, does it fit.

2009 was rough--and so far 2010 isn't looking so hot, either. Another person suggested that we're just getting all the bad parts out of the way now so we can enjoy the rest of the year. I'm not holding my breath on that one, though.

Kale's surgery last month really took a toll on us. A week after having his last set of expanders put in, his left eye started to do some real funky stuff. A large crusty scab-like thing covered his entire eye and we had no clue why. We went back and forth with his doctor via telephone and e-mail, sending pictures and trying to figure out what the hell was going on. She had him on antibiotics in case it was an infection (although she didn't think that's what it was) and we just kind of had to sit and wait it out until his next appointment which was this past Monday (this wasn't because his doctor wasn't concerned, but because she was due to go on vacation and it was Christmas time). But the wait was awful. We couldn't let him "cry it out" in his crib like we had been doing because every time he cried, more of his eye would scab. Parts of it would start to fall off, but then once he cried for whatever reason, it would start to form that nastiness again. It was just no fun at all for any of us and Mike and I have been sleep deprived and grumpy (more so than usual, anyway).

Anyway. This Monday finally came and went and his doctor wanted to go ahead and schedule him for surgery the following morning. So yesterday morning, she cleaned all the funkiness from his eye and discovered that the expander was basically spitting itself out! It was pushing through his skin rather than through the incision! How awful, huh? My poor little guy has gone through so much crap and this was just the worst. So, Dr. Sruggs removed the implant and luckily his eye wasn't infected at all. There was a bit of skin from his "lid" that wasn't viable but it wasn't enough to require a skin graft (which was a concern). Whew! Instead, she put in a tiny conformer and sewed his eye back up and he looks like his old self again.

The part that sucks though is that it looks like we're going to have to start all over with his left eye and the expanders. All this time that the expander was rejecting itself, all the tissue that had been expanded over the last six months moved back into place and so all that space and progress that was made is pretty much gone. His right eye is fine, so I guess that's something. He should be able to start with a conformer in that eye soon.

Despite all of this, we did manage to have a good Christmas. Maile was sick during the entire Christmas break, but that didn't keep her from enjoying all of her gifts from family and from Santa. Kale has been loving all his toys--lots of noisy ones, haha. But it's all good. We're a super strong family and we can pretty much take on anything. It may not be easy, but it's possible.

I've got more to share, but I'll cut it here for now.

Here's hoping 2010 will get better...

Recap

Tomorrow we leave for Birmingham--Kale is having his last set of hydrogel expanders put in. Woohoo! After this last pair come out, he'll hopefully be fitted with conformers that will actually stay put and keep his eyelids from healing back together.

So, just in case anyone is coming in on this with no clue what I'm even talking about, here's a recap:

Kale was born with bilateral microphthalmia (a.k.a. "small eyes"), which means his eyes didn't fully develop while he was in the womb. His is a severe case and he is blind, with some light perception in his left eye. Every case is different and Kale is (knock on wood) so far "Okay"--nothing else seems to be going on with him.

The reason for surgery? His eyelids were fused shut and had to be surgically opened (surgery #1) when he was six months old. The doctors discovered that his left eye (a.k.a. "globe") is actually a decent size but is all sclera (the white part of the eyeball) and mostly covered with tissue. His right globe is very tiny and very far back in the socket. In order for his face to grow proportionately and to avoid any potential future ENT issues, Kale was fitted with these little plastic things called conformers. These are put in place to promote eye socket growth. Well, his left one didn't last more than a week before coming out (and refusing to go back in at any size) because his lids aren't formed very well. The only other option that we felt necessary was to surgically implant expanders (surgeries #2 and 3). There are three different sizes and they expand by the natural fluids in the eye. Once in, his lids are sewn shut. Which means that once he is wearing the conformers, they will have a very large and wide stem sticking out to keep the lids separated so they can heal. Eventually, the conformers with be stemless and actually be painted to look like an actual eyeball.

It's been a long year going through all of this, but Kale is a champ. We're hoping that he only has two more surgeries left (this one on Thursday and one after to take them out and put in conformers) but it is kind of hard to tell right now. It all depends on how his lids hold up through everything.

Anyway. That's it in a nutshell in terms of his condition and what his surgeries are all about. He has handled everything so well and we just hope he continues to. Keep him in your thoughts and keep your fingers crossed that there will not be too many surgeries in 2010 for our little man.

Happy Fat Pants Day

I'm finally not so uncomfortable right now so I figured I'd get on here, give some shout-outs and then have some inner dialog with myself on whether I should attempt to eat anything else today.


What am I thankful for? I don't have enough time in the day to go over everything. But I will say that I'm thankful for my family (duh). But not just the obvious members. All of them. Whether they're a part of my life or not. Because without them, I would never have learned a thing. Whether it is how to be stronger, how to move on or how to forgive. I may not be all the way there on that last part, but I'm getting there. And for that, I'm thankful.


I love my life. I love my friends. I may not have the best relationships with everyone whether it's my fault, theirs or both. But I love them all. Whether we're close or just friends who hang out occasionally but don't quite know enough about each other. I wouldn't have you in my life if I didn't think you were worth it, and I hope the feeling is mutual. Some people I have reconnected with this year. And while I do tread lightly and I do keep some walls up out of fear, I'm thankful for second chances.


I have been trying my best over the past couple of months to be a better person. To not be so negative. It's a hard thing to do when I've spent the last 32 years being nothing but. People who once drove me nuts with their "glass is half full" mentality are now people I look forward to being around. I'm not saying I am now going to be annoyingly chipper, I'm just saying that my glass won't always be half empty.

So, thank you to everyone in my life. Good, bad and in between.

Now, if you don't mind--I have an awesome little family to get back to.

Gobble, gobble, yo.

Where to start

Ugh.

I know I've been slacking on the postings--it just seems like every time I sit down to type something up, I have to stop to do something else. And by the time I can get back to it, days have gone by and there's so much more to cover.

So instead of going into waaay too much detail that no one cares about anyway, I'll make it short and sweet.

Kale's TVI (teacher of visual impairment, or VIT--visual impairment teacher) started visiting a couple of weeks ago. She's great, she's teaching me braille and thinks Kale is the bees knees. Yesterday an O&M (orientation and mobility) teacher came by to meet Kale and to see how he is "traveling-wise". She was very impressed with him and how he moves around, but it probably won't be another six months or so before she starts to actually work with him. She's the one who will introduce him to mobility devices including a cane. Ms. Powers (Kale's TVI) said she will keep the O&M teacher updated on his crawling and walking and maybe he'll get to work with her sooner. He's pulling up on everything now--the couch, the recliner, the table. And he loves it. If he falls, he gets right back up and does it all over again. He'll walk around everything he pulls up on, too. He even prefers to stand (assisted, of course) in the tub now--which is just oh, so fun for me. Not difficult at all (That's not drenched in sarcasm at all, is it?).

Kale started crawling a lot the other day. He did it around six different times. Yesterday he did it twice, once while the teachers were here! That made my day because it seems like I'm the only one who ever sees Kale do it--finally someone else saw it and I don't have to worry that people think I'm making things up (not like I really think they think that...).

Formula is finally a thing of the past! Kale is finally drinking milk. Whew! Now if only I could get him to drink from a sippy cup instead of a bottle. And to drink water and juice. He is eating chunkier foods and I can give him these little yogurt bites and puff snacks. Before I was having to break them up into little pieces but today he took them all in one bite (thanks to my mom). I'm hoping he'll eventually learn to take them in his own fingers and feed them to himself. We'll see. So many things to do, don't want to overwhelm him.

Right now our biggest issue/problem is getting Kale to sleep on his own. In his crib. There was a time before he started having surgery back in April when he slept through the night and it was pure bliss. But since that first surgery, it's been a battle. Most of the time him and daddy are on the couch and that's just no way for either of them to get any rest. We've been attempting the whole crying-it-out and that didn't last too long. But there are safety issues that have us trying to suck it up and get it done. Right this very moment, Kale is in his crib screaming his head off and has been for about 45 minutes. Tonight we're trying out the Ferber Method. So far? It sucks. We find ourselves asking if it's worth it right now. He's going to be having surgery again in a couple of weeks and we'll just have to start all over again.

I know some people think it's horrible and we should just hold him and give in or whatever. But we have our reasons for needing to do this. Every family is different and ours is no exception.

Maile is doing phenomenal. She's learning to read which is such an awesome thing to watch. Reading has always been my "thing" so to see her do it and enjoy it brings me so much joy! She's always loved books but now she goes through and points out all the words she knows and tries to sound out the ones she doesn't. Today she showed me a list of words she was trying to spell just for the heck of it and one of the words she was trying to spell was "dolphin". She spelled it "dofin". How awesome is that? A few weeks ago, the movie "Akeelah and the Bee" was on and we recorded it (I personally love the movie and I wanted Mike to see it--he ended up loving it, too). I swear for the next two days, that's all she wanted to watch! And she kept pretending to be in her own spelling bee, which was the cutest thing.

She's also quite the artist and I'm hoping she sticks with it. She really blows us away with some of the stuff she draws. I was big into drawing (and quite good at it) when I was a kid but stopped for whatever reason. I just hope she doesn't!

Aiight.

I think I covered most of everything. I'm sure I'll remember something else and come back and edit it in. But right now I have to go check on Kale.

So much for short and sweet, huh?



Hope you all have a wonderful, safe and Happy Thanksgiving. I'm sure I'll be back sometime around Thursday to bore everyone with all that I am thankful for.

Until then...

Happy Halloween!

Hope everyone has a safe and Happy Halloween!

Finally

Kale has a Visual Impairment Teacher (VIT)!!!

Today was the staffing meeting for Kale and it went very well. It was a bit overwhelming--there were eight other people there along with Kale and me. But the end result was all I've been waiting for since January.

I don't know yet when his VIT visits will start, but I'm hoping soon. She will come here to the house for thirty minutes twice a week. I've met her before and she seems to know her stuff. She should--she's been doing this for 35 years!

Anyway, I'm looking forward to learning some new things from someone who is somewhat of an expert when it comes to the visually impaired, rather than just trying to figure it out myself (sometimes unsuccessfully).

So, yay! The ball is rolling...