thoughts & prayers

Lots of folks in "the army" are of the praying persuasion, and others are not.

We would not be true to ourselves if we denied that our (Christian) faith plays a large role - perhaps even the biggest role - in helping us out with all this. At the same time, neither of us is really very inclined to make pointed sermons out of anything. But, for those wondering "how we deal" - that's a large part of how.

In either case, a number of people have asked what to pray for, as far as Evelyn goes. Others want to know what to hope for, what to wish for, or just what to generally "send positive vibes for".

In answer to that, some "specific yet general" requests are below. "Us" here means Daniel, Kim, and Evelyn. :-)

• For us to be strong
• For us to be happy
• For us to focus on the positive
• For us to be prepared for the worst, but hoping for and working hard towards the best
• For us to get enough sleep and to generally "remember to take care of ourselves"!
• For Evelyn's doctors to be "on top of their game"
• In particular, her neurosurgeon (Dr. Moss) and neurologist (Dr. Bernes).

Of course, anything late-breaking will be on the blog.

Everyone thinking of & praying for Evelyn really, really means a lot - and it helps. If we can return the favor - please let us know.

aicardi

As discussed in evelyn's story, Evelyn was diagnosed with Aicardi Syndrome when she was 5 days old.

what is it?

In general, more detailed information may be found on, or linked to from, the Wikipedia page on Aicardi Syndrome (of which Daniel has been a recent active editor, and plans to continue to expand it), or see the Aicardi Syndrome Foundation.

In brief, though...

Aicardi syndrome is a rare genetic disorder, with about 500 reported cases worldwide. It's Daniel's own personal theory that it may be a bit more prevalent, going un- or mis-diagnosed in more developing countries. In any event, in almost all cases, it affects only girls, except for a very few known cases of boys with an additional genetic disorder that gives them an extra "X" chromosome.

At this time, a specific gene or chromosome has not been isolated. This means both that it cannot be tested for, and that it is a "clinical" diagnosis; a recognition of outward signs or symptoms. Aicardi Syndrome's "classic" markers are:

• Agenesis of the corpus callosum (ACC), partial or complete - the failure of the thin band of tissue connecting left brain and right to form, or form only partially
• Lacunae (lesions) of the retina
• "Infantile spasms", or basically, seizures

It also commonly includes symptoms such as cysts in the brain, other defects of the eye, and similar related issues.

what does it mean for evelyn?

Or in medical terms - "What's the prognosis?"

At this point, it's very hard to say - as the old saying goes, "time will tell". Symptoms don't usually become pronounced until several months of age, and as of this writing, Evelyn is still quite young. Generally-speaking, though, the range out outcomes isn't terribly great, but it is also highly variable.

• Moderate to severe developmental delays
• Eyesight ranging from simply "less acute" to near or even complete blindness
• Seizures on a regular basis (multiple daily are common)
• Shortened lifespan (median ~18 yrs; average of &10)

Additional complications can sometimes include:

• Scoliosis
• Gastrointestinal & feeding issues
• Respiratory problems

what does it mean for daniel & kim?

As you might figure, getting a diagnosis with any one of the above symptoms or outcomes as a new parent is enough to send you off the ledge; let alone all of them together! We certainly had our time of that, and we're also sure that we're not through - we will continue to have our "up" days and "down".

Largely, though, it's just a fine reminder to take things a day at a time. Evelyn could come and surprise us all, or things might go exactly according to "average prognosis". The doctors might end up dead wrong on their diagnosis, or they might end up being exactly right.

So in the end, for us, we need the same basic things pretty much any parent does:

• Take things one day at a time.
• Be ready and prepared to provide for your child's needs...
• ... While at the same time not placing limits on them.
• Stay positive.
• Be strong.

And of course, being able to boil it down and oversimplify it doesn't make it any easier to do. But, hey - it's a start. :-)

ketogenic diet

As noted in earlier posts, we recently started Evelyn on the Ketogenic Diet. This diet is (yet another) treatment to try and reduce seizures.

At this point, we've worked our way through about.... 7 different medications (phenobarbital, fosphenytoin, Topamax, Klonopin, Depakene, Keppra, Zonegran), without significant impact on Evelyn's seizures. These are largely the more benign medicines with respect to side effects. As those haven't worked, before we go on to the "less benign" medications, we're giving "the diet" a shot.

It's essentially the Atkins diet on a whole different level - low-carb/high-fat/high-protein to the extreme. It's so low-carb that we even had to replace our baby wipes with ones that specifically did not contain glucose, and ditto for any other commonly-used "baby product" (lip balm, lotion, soap - you name it).

Anyway, the theory is it puts your body into ketosis (just like the Atkins diet), which causes your body to produce ketones. The theory (as I best understand it, and may be incorrect) is that these ketones bind with amino acids in the brain when the brain begins using them for energy (in place of glucose), and... does something to the chemical makeup of the brain that reduces seizures in about 50% of people, with about 30% of people showing a 90% reduction or more.

Part of what we have to keep track of is Evelyn's ketone levels, to assure they're not too much, and not too little. These are measured through a urine test.

Now, if you stop & recall that Evelyn is 5 months old, you may be asking yourself, "How in the world do you collect a urine sample from a baby?!?!?" ;-) Well, we're happy to report it doesn't actually involve holding Evelyn over a cup for hours on end (as was the initial picture we had in our heads!). We just slap a small cotton makeup-remover pad in her diaper, and squeeze the resultant output a few hours later onto a test strip. So, if you've ever wondered how to test the urine of your 5-month-old - there ya go. Aaaah, but one of the many things we never thought we'd know. ;-)

At any rate, as Evelyn's a baby, the diet's actually easier (hah) to maintain, as for her, it's just a special formula; KetoCal. For older kids, you can imagine that it gets much more difficult to find "regular food" that meets the fat & protein needs of the diet.

As of this writing, Evelyn's been on the diet for right at a week. She's just now hitting the full level of ketones. With any luck, we should be seeing results (if they're going to be seen) within a few weeks, or maybe a month or two. And if so, we can begin ramping down some of her other current meds, which would be nice. But, as with everything Aicardi... Time will tell!

Generally-speaking, we're all doing pretty good. Evelyn's seizures are still running anywhere from 30-50 a day (again; typically 30s each), and we have been seeing some new types of seizures - but she's been much more alert, overall, which has been nice.

Anyhow - that's it for now - more later! :-)

600 grams

This is an amusing ... story; anecdote; something I thought y'all would appreciate. ;-)

So, we're starting the ketogenic diet with Evelyn. I'll detail that in a separate post. Particularly because she's a baby, we have to be very precise in how much food (a special formula - KetoCal) we give her on the diet, as it's a delicate balance of ketosis to be maintained, plus we don't want her to actually lose weight. Thus, a precise scale was recommended by the dietitian; one that can measure in tenths (0.1) of a gram.

While these can be procured online, brick-and-mortar stores carrying them are harder to find. We didn't want to wait for a shipment, as we wanted to go ahead & get things going. Moreover, Kim wanted a smaller-sized scale - e.g. easily portable or what-not - so if we had to feed Evie "on the road" - it could be done. So, I was tasked with procuring one from one of few the stores known to carry very precise scales (and recommended for this reason by the dietitian!) - a "Department Store" which shall remain nameless. I couldn't even find a website for them, but they're a local chain here in Phoenix, as best I can tell. And they're not your "usual" department store - no lady's and housewares (though there might've been a jewelry section!). They are a ... "pipe store". Or "smoke shop". Or "counter-cultural and related paraphenalia store".

For those not catching the drift, it is a store which sells drug-related paraphernalia. Bongs. Incense. "Cigarette" rolling paper. And, yes - very precise scales. In the event you wanted to weigh something "small and expensive" in precise quantities. Like KetoCal! ;-)

So, I walk in on my lunch break (e.g. dressed for work), and was immediately on sensory overload between the burning incense, giant wall o' bongs, tye-dye everywhere and the Dead playing not-so-softly in the background. So I asked to be directed to the scales, to which I was gladly pointed. I ask the kind "salesman" for help in choosing a scale that was precise to the tenth of a gram, was reasonably small, but also wasn't too pricey. He recommended a few models, but then he posed a question (or a point) that we hadn't considered: How much weight would we need to weigh? E.g. what was the upper-limit of the scale?

To complicate things, because it was all quite precise, we're going to be mixing Evelyn's food up all at once. So, we're talking about a whole day's worth of food, not a single feeding's worth. The model otherwise seeming to most meet our needs only went up to 600 grams. I had no idea what 600 grams looked like or felt like; I'm not a metric guy! ;-) The "salesman" pulled out some calibration weights, in 200 gram increments. This helped a little, but was deceiving, since they're quite dense, as compared to the KetoCal formula.

While I was pondering this and calling Kim to ask how much food we'd have to weigh at once for Evie, my first "salesman" got preoccupied with another fine & upstanding customer. I got off the phone with Kim, and was still pondering the scale, when another "salesman" walked up. Now, I hate to call anybody a dirty hippie, because I know plenty of good, upstanding & most importantly clean hippie-types, but... this guy was a dirty hippie; dread-locked & just... dirty (literally). ;-) I labor at all this description only so you'll fully appreciate the hippie "dude" expression, said as only a hippie can say it.

He sees me really quite consternated over this scale, so I explain that "I'm just not sure if I'll need to measure more than 600 grams or not."

Him: "DUDE - it's 600 GRAMS!" [as if to say, "unless you're starting your own cartel - that's plenty, man!"]

Me: "Oh, yeah... well... I'm not trying to measure what you guys... normally might measure with this."

Him: [look on his face of "yeah-if-I-only-had-a-dollar-for-every-yuppie-looking- white-boy-that-comes-in-here-looking-for-a-scale-that-measures-to-the- tenth-of-a-gram-that-will-fit-in-his-pocket-that-wants-to-weigh-'other stuff'-with it"]

Me: [ignores look] "Yeah; I'm trying to measure food with it."

Him: [look of "Yeah.... 'food'... whatever helps you sleep at night, buddy"]

[awkward pause]

Him: [finally asks, gesturing with his hands an approximate size] "So... like... how much are you trying to measure?"

Me: "Well, it's baby formula - so it's ...." [I stop short as I realize I'm about to describe it as "a fine white powder"] "...well, see, my 4-month-old daughter has a seizure disorder. So there's this special diet that she has to go on, but we have to be very precise with how much she gets, as it's a delicate balance of the diet controlling the seizures and keeping her from losing weight. See, the diet puts your body into ketosis - just like the Atkins diet - which produces amino acids which bind with certain proteins in the brain, which - in about 30-50% of the general population with seizures - helps control seizures."

Him: [look of "oh-wow-either-that's-cool-or-this-guy-really- put-some-effort-into-coming-up-with-his-excuse"] "Wow... so it, like, stops the seizures?"

Me: "Yep; about 30-50% of time."

Him: "Cool, man... cooool."

So, long story short, we are now the proud owners of our Jennings JS-600V pocket-sized ultra-precise scale for measuring out our expensive fine white powder.

And that's the honest truth, Your Honor. ;-)

one med, two meds, red med, yellow med...

Okay, that title was a stretch, but hopefully you got the reference. ;-) Evelyn hasn't had a blue med (yet; and yes, she's had a red one), so we had to substitute in "yellow".

Just a brief update, because we realized we've been quite remiss! I can't believe it's been over 3 weeks - almost 4 - since we got out of the hospital. Most of that time has been dabbling with seizure medications, still trying to get Evelyn's seizures under control, to one degree or another.

It's been a bit of a trying time, to be perfectly honest. Very up-and-down. As noted earlier, Evelyn was discharged on a regimen of Topamax and Depakene, and Klonopin for acute seizing. Topamax brings with it the unfortunate side-effect of a loss of appetite, so Evelyn's been fed largely by NG-tube ever since. After a few weeks on that, it was evident that it wasn't really doing much, so Dr. Bernes began ramping down the Topamax, still keeping the Depakene, just to have something there. We then began ramping up Keppra, still working our way through the more "benign" medicines first (insofar as side effects go). After a while on that, Evelyn's seizures were still largely unaffected (50-60/day; 10-30s each). So, we began taking down the Depakene and ramping up Zonegran. Which is pretty much where we are today.

Generally-speaking, we've been very optimistic in the early days of a new medication, but then as we see no improvement, get kind of down, down, down.... so on and so forth. Evelyn's very much subdued, compared to your average almost-4-month-old(!), between some of the seizures and the drugs. Keppra and Zonegran are both (supposed to be) non-sedative, but Klonopin is a definite sedative. Thus, we try quite hard to be judicious with the Klonopin, but if Evie starts on a sustained (~10 minutes) string of seizures approaching 1 per minute (as opposed to 1 per 5 minutes), we usually administer it.

But, that's about the size if it - plugging away, trying to find what (if anything) will give her a little more seizure control. We're still feeding through the NG-tube, but Evelyn's showing a little more interest in the bottle, so we're still hopeful we can be done with that sometime or another. Again, absolute seizure control is not the goal - seizures will very likely be a part of Evelyn's life ad infinitum - but just some level of control of them so we can do other things, like play. :-)

Anyway, we're hanging in there, and we'll keep at it until we get there. Thanks again for all the thoughts, prayers & considerations - they really, really, really help. :-)

the brain post

Yep, you read it right. I started this way back in the hospital, since a) we had received Evie's MRI records, and b) we finally figured out the hospital had wi-fi.

Primarily, it's to maybe explain "why Evie had brain surgery when she was 2 days old."

The picture on the left is from just before she went into surgery (11-May-2007); the picture on the right was from about a month ago, when we were in the hospital (24-Jul-2007). Looking at the left picture, it doesn't take a brain surgeon to see (pun intended) - "somethin' ain't right". The white part is all water, either enclosed in cysts (choroid plexus cysts on the sides, and an arachnoid cyst in the middle) or built up in her ventricles (causing hydrocephalus), because the cysts were "blocking the drain". It's hard to see the "dividing line" of some of the cysts, but if you look close, they can be seen.


The grey matter is .... grey matter. ;-) Seriously, that's "good brain tissue". Thus the impetus for surgery can be seen - if you look close around the rim of the cysts - especially on the left side (actually the right side of her head - MRI images are flipped) - you can see a very thin, grey strip. That's compressed brain tissue. Ouch.

As discussed back in Evelyn's Story (The Longest Week), the surgery was an endoscopic fenestration of the cysts - in short, going in with a small cable, and popping them like water balloons. This would allow the cysts to drain, and when they drained, they would also begin to stop "blocking the drain" for the rest of the ventricular system. A reservoir was placed to collect any fluid if it did continue to build, in place of a shunt (a more permanent device that can have complications).

As can can be seen on the right - things have progressed very nicely since the surgery! The cysts have shrunk in size, "unclogging the drain", and brain tissue is growing & expanding. Yay!

don't forget the big syringe

We had a check-up with the neurologist today down at PCH. Which meant the inevitable task we'd been dreading had finally come: having to feed Evelyn "out in public" with her feeding tube.

Now, it wasn't really the "public stigma" or "embarrassment" factor causing this fear - I'm not entirely sure that'd bother us much anyway, but even if it were to - c'mon; this was the hospital we were at. No, it was the fear of the logistics involved with such a task. The pump, and the feeding bag, and the formula, and the syringe to flush the tube, and the medicine for her 2:00 Depakene dose, .... daunting, to do it "outside the house" for the first time, to say the least.

So, Kim dutifully packed everything up, picked me up from the office, and we headed on down to the hospital. We had our meeting with the neurologist at 1:00pm (more on that in a later post), and then it was time for Evelyn's 2:00 feeding. So, we went down to the lobby of the outpatient building, and set up. Kim pours the formula in the newly-unsealed bag, and..... Yep; Mr. Murphy visited, and the bag had a leak.

At this point, we were a bit stressed - what do we do now!?!? We left The Big Syringe - to pump food in manually - at home! We had no other way to get the food in, except via the pump that needed a bag that had a leak! While I held a growing-fussier-by-the-minute Evelyn and schemed on patching the leak up with chewing gum, duct-tape, and/or bailing wire, Kim went around to see if she could find another feeding bag - we were at a hospital, after all!

Luckily, she found another mom with a child being fed via feeding tube as well, who had a spare big syringe, just in case. I then hand-pumped in 2.5mL every 30 seconds for 120mL (that's 24 minutes). ;-) While an onerous task, it wasn't so bad, and probably beat the chewing gum, duct-tape and bailing wire solution I had drawn up.

Lesson learned: Don't forget the big syringe. :-)