Day 2

It's been a long time since I blogged about seizures.  Joy was still having seizures when I started Elvis Sightings in mid-2008, but we were well on our way to getting the just-right meds combo at that point. The last seizure we saw was on September 11, 2008.

As of this Thursday morning, it had been 1554 days.

But no longer.  On Thursday morning Joy had a seizure that was powerful enough to knock her down.  I'm pretty sure I missed the actual seizure itself, which must have happened while she was on the couch with her iPad while I was whirling around packing bags and wraps for school.  But when I got her up to put on her coat and go to school, she tripped over her boots and fell to the floor.  She fell again in the driveway a minute later, and then she was very sleepy and out-of-things for about an hour.  Clearly a seizure event with the sort of post-seizure sequence that we used to see all the time.

We've consulted with her neurologist, survived a blood draw, bumped up one of her med doses (which hadn't been changed since the seizures went away).  

So the count has started over again.  Now we're on Day 2 since the last seizure.

It would sure be nicer to have it be Day 1556.

A Generic Post

In principle, I'm all in favor of saving money with no-name brands.

We do a lot of that in the grocery store. Our cart fills up with a lot of store-brand or lesser-known brands, every bit as tasty and we don't have to pay for all the advertising overhead!

Then again, there are exceptions. I happily eat the off-brand Crisp Rice (instead of Rice Krispies), packaged in the big plastic bag; JoyDad eats Mom's Best raisin bran instead of Post or Kellogg's. But I do not like the taste of off-brand Cheerios and Kix. Those two are not every-bit-as-tasty in the off-brand, I can taste the difference, and I'd really rather not buy/eat the inferior stuff.

There are some similar -- and much higher stakes -- issues with generic drugs too. In general, I'm all in favor. Health care costs are way-too-high, and generics can do their bit to help bring costs down. JoyDad and I avail ourselves of generics both for prescriptions and for over-the-counter meds.

Unfortunately, epilepsy drugs are a example of when generics aren't necessarily ideal. The FDA rules for generic bioequivalence allow for a rather suprising amount of tolerance around how well a generic version needs to match the corresponding brand name -- to make the cut, a generic needs to be reliably "within 20% above or below the blood level generated by a corresponding brand drug." When it comes to anti-epileptics, where the therapeutic dosage can be in a narrow range, that degree of difference between brand-name and generic (and possibly even more so between two different generics) can apparently be enough to mess with seizure control, to potentially disastrous results.

A recent article at Epilepsy.com has a nice round-up of recent research conducted on generic substitution for anti-epilepsy drugs, with a number of studies pointing in the direction that the differences may indeed be problematic.

There are a couple of different approaches underway to remedy this. A citizen petition was presented to the US Food & Drug Administration (FDA) in 2006 requesting that the agency address the issue of brand-name/generic substitution for anti-seizure meds. However, it does not appear that the FDA has responded substantively. More recently, in the conference report that came out with the funding bill for the FDA for the coming year, Congress has upped the ante by including the following request:

The conferees request the FDA report on adverse events and seizures associated with brand and generic anti-epileptic drugs. Specifically, the agency should examine the pharmacokinetic profiles of “A” rated anti-epileptic drugs from different manufacturers of the same therapeutic agent. The Committee directs the FDA to submit a report not later than September 30, 2010, detailing whether the agency believes that any changes to the current bioequivalence testing should be recommended.

(from FDA Law Blog)

Although -- the FDA is already on record with the belief that no changes need be made, so I'm not sure how this would impel any belief-changing (why is this about "belief" anyway?) Maybe if either internal or external evidence piles high enough, they might change the tolerance guidelines for this particular group of meds. I wonder if that's been done before.

Here in Wisconsin, there was also a push for a legislative remedy this past session of the state legislature. The bill (2009 AB 506/SB 354) would have required consent from both the prescribing physician and the patient/parent/guardian before a pharmacist could substitute generic for brand-name anti-seizure drugs, or substitute one generic for another. Wisconsin law already prohibits such a switch if the original prescription specified "no substitutions" -- and the opponents of the measure were quick to point this out. A public hearing was held, but it looks as if the bill died in committee, and never came to the floor for a vote.

As you might guess, we've had direct Joy-experience with this, two times this year now. We've been so fortunate to have finally hit the sweet spot with her meds combo, such that the scary-seizure days have receded into memory for a while now. One of her two meds has been generic from the get-go, but the other one began as a brand-name.

I knew about the substitution concerns, and so I was taken aback when I showed up for a refill at the pharmacy counter this past January and was told that our insurance wasn't covering the brand-name anymore, so they'd filled it with the generic. I pressed the pharmacist a bit, but he seemed to think that we'd be in for an uphill fight for reimbursement if we wanted to try to get doctor's orders not to switch. I went ahead and let them ring up the generic, and contacted Joy's neurologist, who said he didn't anticipate any issues with the switch. So we started in with the generic, and saw no problems, and so that chapter ended well except for being an extra worry in the back of the mind as we started in on that new bottle.

Well, here we are only six months later, and they've switched it again. This time it's from one generic to another. This time the issue was with our pharmacy's wholesaler, who suddenly made a complete switch to another manufacturer. The pharmacist was, once again, sympathetic. He had taken a continuing education session on just this issue (generics and seizure meds), knew the concerns... and couldn't do a thing for us. He did try, calling the wholesaler just to be sure that the other wasn't still available. I'm sure the pharmacist's boss wouldn't thank him for this, but he even suggested that we might want to call around and go to a different pharmacy if we could find someone else who carried it! Which we don't really want to do -- inconvenient at best, and who's to say the new pharmacy's supplier wouldn't pull the same trick in a month or two?

The legislation was well-intentioned, but I wonder it would really help either situation. It's aimed at the pharmacist, but he/she can't do anything about what our insurance will cover, nor (probably) about decisions at the wholesale level.

I dislike ending a politics-wonk blog post without a call to action. Sigh. Maybe just to think good thoughts for us as we crack open the new generic bottle, that all continues well with Joy's seizure control.

Reverse Psychology

For some strange reason, Joy didn't want to take her seizure pills last night. Usually there's no trouble. I wrap them up in a bit of fruit (last night it was Turkish apricots, always good to up the fiber in the diet, if ya know what I mean!)

I was chasing her around the living room with the apricots, doing the silly-mommy approach of "num, num, so good!" and pretending to eat them myself before trying to pop them into her mouth. She was having none of it, and I was getting frustrated.

Then JoyDad said, "Let me try."

He placed the apricots on the corner of the counter closest to the living room, and then backed off.

Joy got a mischievous look in her eye, zoomed around past the counter to snag the apricots, and chowed down without even slowing down.

JoyDad understands this girl a little too well, sometimes. Mischief-makers, the both of them!

Pacing the Crazy (legs)

The other week I mentioned (in passing) that I was training for an 8k race, the Crazylegs Classic. Which took place this morning.

In the spirit of the Many post, perhaps I should have mentioned that between the run and the walk versions of the event, there were almost 20,000 participants registered. And I went alone, though I was technically part of a team from the university library system. One consequence of Joy's full therapy schedule is that I generally can't bring family along to cheer when I race, so this was a solo event in a sea of many.

To get that many runners onto a course, you can't start everybody all at once. The top-flight runners get to start first, and then everyone else gets assigned to a different clump of runners depending on your pace. I was in the 36th wave out of 44, which meant that since they were trying to start one wave per minute, my wave started over ten minutes after the race had already been won.

But the neatest thing happened as I lined up with my fellow potential-slow-pokes. I ended up standing next to another mom, just about my age, who was running her first 8k race. And she just happened to have a little daughter with special needs. Like epilepsy. And a tendency to slip away and escape. And communication issues. And a high pain tolerance.

We chattered non-stop while we moved slowly up to the starting line. And then we ran together and kept each other going, surely faster than either of us would have been alone. We had each (optimistically) guessed that we'd make an 11-minute-mile pace, which is what got us assigned to the same wave. I ended up being just a little slower in the last half-mile where she was able to pull ahead -- but she was waiting for me at the finish line. We'd both run the entire way.

My pace per mile was 10:20. Woo hooooo!

I hadn't thought that blogging about an 8k race would be about special-needs mamas helping one another out. But there you have it.

Hypothetically Speaking

I had the privilege of attending an event the other weekend that gave community members a chance to hear various experts on autism. We heard reports on ongoing research (the science experts). We heard about community resources (the information experts). And we heard about everyday life from a panel of personal experts: three parents of kids on the autism spectrum, and three people who live on the spectrum themselves.

The living-it-themselves experts had the opportunity to pick from a list of what questions they wanted to answer. I was especially interested in what the answers would be to the following questions that were listed in the program:

Do you think it would be a good thing if research found a cure for autism and Asperger's syndrome?
Would you want to be "cured"? Why or why not?

Unfortunately for my curiosity, these were not the questions that the panelists elected to address. I wonder whether the other questions were just more interesting to the panel, or whether there was some active avoidance of these particular questions.

You might say I've avoided these questions on Elvis Sightings myself, actually. Or at least I've chosen other material. The "cure question" is mighty important though -- for how people live their lives now, for how the money flows, for how autism-related policy is crafted, for research priorities, for what choices people may or may not have available in the future.

I'm reminded of my testimony back in 2007 before a state senate committee about autism insurance. The line that got media-quoted went like this: my daughter has epilepsy and autism, and "it's astonishing to us that of these two neurological conditions, one of them is thumbs up and one of them is thumbs down." [when it comes to insurance coverage -- fortunately we won! so that statement is no longer true!]

Now, consider the hypothetical question: "Would it be a good thing if research found a cure for epilepsy? Would you want Joy to be cured?"

Well, heck, yeah! Conditionally, of course -- we'd need to know about risks, and costs, lots of important details. But to the basic question, the answer is a pretty solid YES.

Replace "epilepsy" with "autism," and both the question and answer feel somewhat more tangled.

The rhetoric of curing autism has been deeply entangled with vaccine-autism fears, and a whole slew of non-standard / alternative medical treatments: some relatively benign, some downright scary. When people (parents) are desperate for a cure, and science doesn't have it, the door opens wide for uncontrolled experimentation. And quackery, alas. Very hard to sort out.

And then there are the voices from the autistic self-advocacy community and their allies, people who do not want neurological differences to be viewed as brokenness, but ask instead that the world welcome such differences as part of the beautiful diverse tapestry that makes up humankind. This view envisions a world where we pour the effort and funding that is currently flowing toward cure-chasing into supports and acceptance instead.

One aspect that makes the cure-question less straightforward is the increasing evidence for genetic factors in autism. It's not going to turn out to be anything simple, lots of bits of genes are implicated so far, and the geneticist who came to explain the lastest state-of-the-science to my LEND class last semester left my head spinning. But one consequence of pursuing the genetic angle boils down to what has happened in the case of Down Syndrome: once we could identify it in early pregnancy, people started choosing to end those pregnancies (at a rate of up to 90%). Might that be what a "cure" for autism ends up amounting to?

Another disturbing scenario was explored on a fictional level by Elizabeth Moon in her novel The Speed of Dark, in which the protagonist is on the autism spectrum and an experimental procedure/"cure" for autism figures prominently in the plot. (Fascinating book, by the way.) What exactly would a "cure" do to the people to whom it was administered? What would be the risks -- especially in the early stages of developing such a "cure"? What would be the pressures, and where would they come from? In the novel, the pressure is from an employer. But I could imagine the pressure coming from the funding mechanisms of the health care system, or the educational system, or social services. As in: this treatment is your opportunity to become "normal." This will be your chance to no longer be a burden on society. If you do not take this chance, for the good of society, how can we offer you any further supports or services?

Part of me would very much like to plant my flag proudly in the neurodiversity camp, and proclaim that I don't want a cure for Joy's autism.

But... hypothetically speaking... if we were suddenly offered the choice?

Depends on the conditions. I seriously just don't know.

I do find it interesting, though, that epilepsy and autism (so often co-morbid) elicit such different reactions to the "cure question." That somehow hypothetically desiring a cure for autism might mean I think my daughter is "broken" but desiring a cure for epilepsy just means I have her best medical interests at heart...

It's getting late and I'm beginning to ramble. Please come ramble with me in the comments. Ramble, not rumble, though, OK?

Artifact from Another Era

The semester ended. And I looked around the house, rather shocked at what I saw. Oh, the piles of "stuff"! And the dust-bunnies!

And, we're hosting our fellowship-group from church for a potluck on Saturday!

So I started to dig out, and organize the piles and bags and boxes that have somehow accumulated all over the place. One bag that I dug into to organize was Joy's little bunny-backpack, which serves as a diaper bag.

At the bottom of the bag, I found an artifact from another era. It was a syringe of emergency medication, for use in case of a seizure that lasted emergency-long.

We never came close to an occasion to use it, and the seizures eventually faded, and we go entire days (weeks?) without thinking of them. It was time to move the medication -- still well within its "good till" date -- into the medicine cabinet and not carry it around everywhere.

Those days may yet return. For now, though, it feels really good to take that medicine out of the diaper bag. The less unnecessary stuff, the better.

P.S. I think I'll tackle the piles of paper on the desk tomorrow. And clean the bathrooms. Wish me luck.

9/11/2008 - 9/11/2009 and beyond

It's been an entire year...

since we last witnessed a Joy-seizure.

Break out the fizzy juice!

Similarities

One of the joys of being part of this bloggy enterprise is "meeting" people who share traits and experiences with Joy (and me), whether across town or on the other side of the country or world.

This was reinforced, in the case of one delightful similar-sister we've never met in person, by a comment on the last post -- and by the photos later in this post.

Sweet Rhema and Joy share so much...

Both carry names that reflect their families' faith-rootedness.

They're just about the same age.

They're both fast and strong (and at risk for flight, fences and tags notwithstanding.)

Both have an on-and-off relationship with spoken language -- generally more off than on.

They're both gymnasts, furniture and otherwise.

Both have epilepsy issues.

Both are Baby Einstein devotees.

Both give glorious butterfly-kisses.

Neither can be reliably left alone with an open cup.

Both are dearly beloved by their typically-developing sisters.

And they're both window-dancers.







Rhemashope, I'm so glad to know you and your darling window-dancer too! Hugs across the miles to our sisters.

AMAZING UPDATE:
Ohhhhh. Look at Rhema's latest window-dance, everyone. From yesterday. As in, within a day of Joy's window-dance photos. Separated at birth, or what?!

Side Effects are Generally Mild

"Side effects are generally mild and may include..."

How many times have you heard those words, or something like unto them, on a TV ad?

Of course, nobody expects to be the one to get the side effects. I sometimes talk myself out of expecting them even when the chances of side effects are high.

Rhemashope posted recently about the difficult decisions they're facing about epilepsy meds for Rhema -- difficult in large part because of side effects and dependency issues. Mama Edge has posted repeatedly about meds and her guys. Same with Niksmom: poor Nik has had some harrowing stuff around his meds. And these are but a few examples.

Over here, we've had a nice run of stability with Joy's epilepsy meds. It makes one forget how rough it can be to start a new one, or a new combo, and try to track what is working and what is side-effect and what is just the quotidian sliding of switches on her mixer board. Once she's been seizure-free a full year (which, Lord willin' and the creek don' rise, comes up in less than a month), our neurologist wants to talk with us about reducing medication levels. Yipe. Yipe. Yipe. That's change I think I'm going to have trouble believing in...

But that's not actually exactly upon us yet. So why am I writing all this now?

Well, JoyDad had a little adventure this past week. He started on a new medication, prescribed but also available over the counter (OTC), where "side effects are generally mild." You basically don't expect big problems when you take it.

The night after he started taking the stuff, he got a fever & chills, coughing, shortness of breath, had an awful night. In the morning he called the whoever was on-call at his clinic (weekend, of course), only to be told something vague, probably ought to stop taking the medication just in case and call the doctor on Monday. He stopped the meds, started feeling better, didn't actually miss any work, forgot to make the call, convinced himself that he'd been on the wrong end of coincidence and a virus, and re-started the medication.

This landed him in the emergency room Tuesday evening, tight-chestedly gasping for breath and coughing up things one hadn't oughtta be coughing up.

Fortunately he's OK, treated & released that evening, though he hasn't entirely shaken the cough yet. We're intensely grateful to the retired-nurse neighbor who dropped everything on a moment's notice and gave him a ride to the hospital, so I didn't have to cancel a barista and drag the kids along for the emergency room experience!

The drug in question? Prilosec. Common OTC antacid.

Be careful out there, folks, any time you or your kiddo starts some new drug, prescription or OTC or herbal supplement or whatever. Side effects may be uncommon. But with most meds -- they're entirely possible, and you just might be the one to land on the wrong side of the statistics.

Happy Anniversary UncleDO and AuntLO!

On October 20th, 2007, Joy & Rose officially gained a new auntie by marriage.

They also both got to be flower girls!

Now, there's always a bit of risk entailed in the flower girl thing, and the younger, the riskier. You never quite know how they're going to perform at the actual ceremony! Having a three-year-old in the mix along with her five-year-old sister makes things more than a little unpredictable.

When the three-year-old also has autism and epilepsy, all bets are off.

The happy couple didn't waver as the planning process went along. They were quite definite: they wanted both girls in their wedding, even though they of course knew about the autism and the epilepsy. No, they didn't mind if I walked down the aisle next to Joy to keep things on track. And whatever happened, they assured us, it would be cute and make a good story.

Perhaps you can tell already that AuntLO was the ultimate UN-Bridezilla. We had such fun together figuring out dresses for both girls to coordinate with her ivory & burgundy wedding color-scheme, while simultaneously trying not to break the bank.

It's a rare late-October day in Chicago that comes in with a clear blue sky and over 70 degrees, but that's what they got for their wedding day on October 20 last year:


We had a couple hours drive to get to the church, and Joy did have a pretty big seizure at one point along the way, but we were hopeful that she'd be feeling fairly well recovered by the time we got there and got her all dressed up. (The Oct. 2007 trip to Chicago was one point in our data gathering that, up until this October, travel seemed to trigger seizures.)

Then she had another sizable seizure just as we were walking up to the church. Arghhh! Despite her obvious unhappiness, we went ahead and got both girls dressed up in the church bathroom, and got their lovely little baskets of rose petals, and hoped for the best...

And then while the processional music was playing and we were waiting our turn to walk in, she had another one.

The poor kid. I tried to walk in with her anyway, thinking that maybe she'd be so stunned that she'd just start moving forward and keep going.

Rose flower-girled like a pro, walking slowly and regally and strewing rose-petals "just so" (she'd been reading the Kevin Henkes book Lilly's Big Day for good practice!)

Joy took three steps with me, a little in front of me. Then she flung her petal basket in one direction and went running in the other, between a couple of empty pews. All she wanted to do was escape.

I pursued my sweet baby, picked her up, cuddled her the rest of the way up to the front of the church, circled around and pretty much immediately carried her back down the other aisle out the back of the church -- to await the incipient misery and fuss that always follows soon after a big seizure.

The beautiful old Catholic church building in that old Chicago neighborhood did not, of course, have a cry room. That wasn't on anyone's radar back when the church was built (heck, the term "radar" wasn't even coined until the 1940s!)

Fortunately there was a lovely little fenced grassy yard and garden at the back of the church, and it was so warm we didn't even need a wrap. I followed Joy around, trying to keep her safe through the worst of her reaction until she was a little calmer, and then we snuck back in to grab my purse and brought Rose out as well -- turned out that the full-fledged wedding mass was getting too long for her. So I snapped some photos. Here's Joy:


There was a statue of St. Francis in the middle of the little lawn, about the same height as Joy and shorter than Rose!


I won't post any of the official photographer's shots, from after the ceremony. Not only are they all from the front, Joy doesn't do well with posed photos and wasn't in a particularly cooperative mood.

AuntLO and UncleDO, though, were over the moon. We were so delighted to share in their joy, and touched beyond belief at their insistence on including Joy in their celebration.

Afterwards we discovered in conversations with other guests that, if we didn't tell them about Joy's seizure, they just assumed that she was having a three-year-old moment there in the aisle at the ceremony. Just like any kid might do.

It was cute, and made a good story.

========

As part of "and they're living happily ever after," I'd like to mention that AuntLO and UncleDO came to visit us last month. We had a wonderful time, including a family walk by the lake and a restaurant dinner. Here's Rose feeding the ducks during our walk:


We're grateful beyond words for our amazing supportive family. Happy first anniversary, AuntLO and UncleDO. We love you guys!

Cause and Effect

In my last reflection on Joy's brush with craniosacral therapy, I mused about doing a post on cause and effect. Here 'tis.

It strikes me that there are two sides to cause and effect when it comes to how we evaluate what's going on with Joy's health and development. One has to do with what's going awry; the other has to do with what's going right.

I'm particularly interested today in the "what's going right" side of things.

We're trying different treatments and interventions with Joy all the time, in an elusive journey toward improvement / healing / wholeness.

There's the allopathic medicine side of things, such as the combination of strong medications we've brought to bear on Joy's epilepsy. We carefully track the seizures against the dosing. Funny thing here: the three times that we've almost gotten to a month without any knock-down seizures don't seem to correlate very directly with dosage changes, and yet without the meds we'd be in big trouble. (The one time that we tried to back down the dose of one of the two meds she's currently on, the seizures increased dramatically).

There's the non-traditional medicine side of things, like we tried with the craniosacral therapy, various attempts to bring healing through correcting flows of energy and such.

Then there's the educational realm of interventions that we're tweaking all the time, between three therapists from the school district. The intensive autism therapy I should perhaps put with the medical side of things, but the day-to-day interactions have a lot in common with what we're doing with the school district and we deliberately coordinate the two.

Then there's the fact that Joy continues to grow and mature.

What a complex and fascinating endeavor, trying to facilitate (and evaluate) all this potential growth/healing!

And somewhere, woven between all of this, is faith and mystery and miracle.

Some Boggle-playing friends of mine at church had an amazing experience lately that relates to this.

Their middle-school-aged son dislocated his knee earlier this month, a painful injury. The doctor was able to manipulate the knee back into place with quite a bit of effort, but it wouldn't stay -- it was popping back out with a fingertip's worth of pressure. The family requested the prayers of the congregation as they scheduled their son for surgery.

The day of the surgery arrived, the son was prepped for the procedure and placed under anesthesia, and then... the surgery didn't happen. The surgeon reported that the knee was back in place and healing well, staying put even when he pushed at it. Nothing in the literature suggested the possibility of that course of events.

"Are you religious?" the surgeon asked the parents.

There is much about the causes & effects of healing that is beyond our knowledge. I'm continuing to learn about being open to a range of healing, however it may come.

===========

Thank you to Barbara at TherExtras for precipitating this post. I hereby submit it for inclusion in her upcoming blog-carnival on healing, scheduled for October 6.

[Additional note: the mom of the lad with the inexplicably-healed knee did give me explicit permission to post the story!]

In Praise of Awesome Community

We now return to our originally-scheduled programming, which involves the enumeration of blessings.

First off, thanks to everyone who's been reading and commenting and sending prayers and positive thoughts about our Rats'm Frats'm Blankety-Blank Seizures. We're pretty clearly back in seizure-land at this point, going at the rate of one knock-down per day with several disorienting single-jerks (plus the ongoing internal electrical storm that has been present for the past two years at least). Good news is, there was only the one big blue-lipper so far. The subsequent ones have been about 10 seconds in duration and have been much easier to shake off.

Then there's the awesome meat-space community (so to speak)!

We've got such a wonderful network through our church. The mom with whom we used to daycare-swap has coordinated for us a full roster of volunteers to accompany Joy one-on-one at Sunday School and nursery, plus give me a few minutes before and after worship for conversation. There are enough volunteers that nobody needs to step in more than once a month, and Joy is accepting enough of a wide range of helpers that this rotating whirl doesn't seem to faze her.

There's also a strong neighborhood network. On Friday I needed to go to Rose's end-of-summer-camp party, which conflicted with one of Joy's home therapy sessions, and there needs to be a parent or other adult in the house for the therapy to take place. One phone call next door, and the neighbor on the other side of the fence (who brought the potato salad to the fence party) was all lined up to come on over.

I was able this week to line up two other neighborhood moms with Rose-aged kids to take on the regular task of getting Rose home from school on Tuesdays and Thursdays, because that too conflicts with Joy's therapy hours.

On top of that, I've got a list of eight families (spanning neighborhood and church) willing to be called on short notice if we are in need of a bit of respite Joy-care, plus three other families who didn't think Joy-care was up their alley but would help by bringing a meal if need be.

And then there's the dear friend who brought her daughter over for a spur-of-the-moment playdate Friday night after the end-of-summer-camp party, and brought wine as well so she & I could each have a glass as the summer sun went down...

I could list more, but that gives you a flavor for it! Community makes Joy's world go 'round. We are so very blessed.

Rats'm Frats'm Blankety-Blank Seizures!

Just when I get to counting my blessings...

Joy had such a nice string going. The last knock-down seizure we'd seen was on July 31. That meant that we were closing in on 4 weeks, almost a month. When we hit a month, we were going to celebrate.

And then this morning, we had (in the words of Mama Mara) a "big blue-lipper." Fortunately Joy was in a stroller, so she didn't fall. But she did go stiff. And quiver. And stop breathing. And change color. And drool. And then felt simply wretched for the next hour or so.

Dagnabbit. There goes our party.

Well, still trying to count blessings here... last time we had an almost-month-long streak without any knock-down seizures, she then had SEVEN big blue-lippers on the day that the streak broke. Here's hoping that today's count remains at ONE.

About the seizures

Time for another piece of introduction to Joy's complex medical situation: the seizures.

The first thing to know is that "seizures" and "epilepsy" are pretty well interchangeable terms. If you have more than one seizure, you're considered to have epilepsy.

What is a seizure? According to the Epilepsy Foundation,

A seizure happens when a brief, strong surge of electrical activity affects part or all of the brain.

How many people have it?

By 75 years of age, three percent of the population can be expected to have been diagnosed with epilepsy, and ten percent will have experienced some type of seizure.

Up to 70% of epilepsy is "idiopathic," having no diagnosed cause; up to 40% of people with autism also have epilepsy.

The first seizure that we noticed happened at a family gathering in July 2005, when Joy was 14 months old. In her grandparents' living room, sitting on the floor in the middle of a roomful of conversation, she suddenly "zoned out" and sat there quivering for what must have been over half a minute. Then she "came back" and everything was fine. We shook our heads, commented on how weird it was, and that was all. The second one was like unto the first, several weeks later at a noisy restaurant dinner -- zoned out in her high-chair, with a slight tremble. If I'm remembering right, she got pretty snoozy afterwards too.

Those episodes were enough that I mentioned them at her 15-month pediatric appointment. The pediatrician was sufficiently on the ball to get us scheduled for an EEG with a couple of weeks, which was very helpful because during those two weeks, we started having daily episodes. The daily episodes were a little different. Joy's arms would jerk out to her sides, and she'd get a startled look and whimper a bit. Then a few seconds later, another jerk. These sequences lasted up to a minute at a time and were mighty disconcerting to all of us!

We were pleased to discover that the pediatric neurologist on duty during the EEG was someone we already knew. He made a special point of coming in during the actual EEG (rather than just reading it later), and though Joy had no visible seizures during the EEG, the pattern was such that he could tell right away that there was abnormal electrical activity going on in there.

The very first medication at the very first dose was a big initial winner. The visible seizures disappeared, so thoroughly that the neurologist had us come in for another EEG four months later to see if the underlying pattern was gone too! (It wasn't.) So the medication stayed, and the only side effect we identified was that we're pretty sure it made Joy more hyper than she'd otherwise have been.

Unfortunately, the seizures started to re-emerge about a year later, early fall 2006. At first we weren't even sure we were seeing them, just a little seizure-y flicker out of the corner of our eye, and a passing thought, "Hm, I wonder if she's about to have another seizure." Her neurologist confirmed that we probably weren't imagining things, and before too long we were back in the world of stronger, longer seizures. As they got stronger and longer, they looked like this: Joy's arms would fly out to her sides, and her face and body would get stiff. If she was standing, she'd topple over. She'd stop breathing for a few seconds, enough to make her face turn red. (Later, it sometimes got long enough to make her face look blue-ish, and she'd drool and convulse a bit too; right now, we're pretty much back in red-faced territory.) After she comes out of the seizure, if it's a short one (10 seconds or so), she may pop right up and go about her business. If it's longer, she may be cranky for half an hour. If it's a blue-face one, she may be exhausted and limp for half an hour, then inconsolable for the hour after that.

So our little neurologist-plus-family team started juggling meds -- first increasing the original one, then adding another, then removing the original and adding a third, then tried to remove the second (NOT good), then re-upped the second and removed the third, then added a fourth. We also tried a low-glycemic-index diet along the way, sort of an Atkins-diet treatment that was supposed to stay just shy of ketosis, which we followed very faithfully but without any decline in seizures.

We're still on the "second and fourth" combo, which puts us into manageable territory, with no side effects that we're aware of (an immense blessing). We've had some very fine stretches, including something close to a month in April when we had no visible seizures at all. The day the seizures came back, though, we had SEVEN of them. More often, the daily record on our calendar looks like this: 0, 0, 1, 2, 1, 0, 0, 1, 0... This summer we've noticed a tendency to have more seizures during travel. The lake-vacation calendar went: 3, 2, 2, 4.

We never know when a seizure is coming on, so climbing-play (which Joy loves) and park playground equipment and swimming lessons are all somewhat scary things. Fortunately, however (touch wood, quick prayer, avert! avert!), we've never needed an emergency room trip, either for the seizures or a resulting fall.

Right now, it's just part of our daily adventure with Joy and all of who she is.

Linear Nevus Sebaceous Syndrome, or, another order of noticing things

Update! I'm pleased to announce a new resource for linear nevus sebaceous syndrome, called LNSS Connections. The site introduces linear nevus sebaceous syndrome & related neurocutaneous syndromes, and links to a new support group for people dealing with LNSS. Please come check it out!

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There's another layer to what we noticed when.

Joy was born with a visible sign of things to come, a blotch on her scalp -- that's a newborn photo at right.

On the first day, it was written off as maybe a scrape. On the second day, the word was linear nevus sebaceous. It was, we learned, a fairly common blip, a blotch of inappropriate dermal tissue packed full of oily glands -- hence the "sebaceous" -- on which no hair would grow.

JoyDad went online and found some rather scary pages about linear nevus sebaceous syndrome, accounts of kids born with nevi all over their faces who ended up with various combinations of other symptoms involved: blind, deaf, serious cognitive impairments, severe epilepsy. However, I don't remember him making a big deal of those findings to me, because the message we got from the doctors was that most such nevi have no further implications, beyond the cosmetic issue and a somewhat elevated chance of pre-cancerous changes further on down the road. The nevus wasn't even expected to grow, beyond just keeping up with her head. (Nine-months photo above left; the blotch was peach-colored most of the time, turning bright pink when the rest of her face went red, as in a crying jag or the like.)

We consulted with a pediatric plastic surgeon, who ended up doing three outpatient surgeries over the course of a year, the first when Joy had just turned one. No complications from the surgeries, other than a scar that her hair grew to cover, with a promise of potential scar reduction surgery some years later.

The seizures started between the second and third surgeries, at age 15 months, summer of '05. They deserve a post on their own, so I won't go into a lot of detail except that we have an excellent pediatric neurologist, who even happens to be a fine Boggle player! He first floated the idea that the epilepsy and nevus might be related in summer of '06, but in such a low-key way that we didn't really glom onto it and press him for more details and a definitive diagnosis of linear nevus sebaceous syndrome (LNSS) until November of that year.

LNSS is a rare congenital disorder that was first identified in 1957 and then independently in 1962, and is also known as Feuerstein-Mims-Schimmelpenning Syndrome. My understanding is that it's rare to the point that the number of cases in the US numbers in the 100s. It's a genetic disorder but a mosaic one, so it's only happening in the affected areas rather than systemwide and there's no blood test for it. The classic triad of symptoms are the nevus (check), epilepsy (check), and cognitive issues (check). It can also, however, include a whole slew of other systems such as eyes, ears, skeletal, and genito-urinary, and sometimes a diagnosis will be made if one of the triad is missing but some of the others are present.

We are fortunate that Joy seems to have the classic triad, and nothing else. She's seen a geneticist, had her eyes checked (one of the most stressful doctor visits we've ever had, but that's another story), and had her hearing checked (inconclusive because she has the attention span of a gnat, but we don't have any evidence for being concerned).

For Joy, LNSS makes sense as an umbrella diagnosis that more or less explains all the rest, including the autism. However, it doesn't give us much guidance as to what to DO about any of it...

I'd link to a good summary site, except I haven't found one that I liked recently! There isn't even a Wikipedia entry, for cryin' out loud. I haven't found an online support group specific to LNSS either, though there is an Epidermal Nevus YahooGroup that gets sporadic traffic, where a variety of kinds of nevi are included and only a few of the participants are dealing with the syndrome beyond just the nevus. Maybe there's a mission for me in that lack of information, at some point.

Is this thing on?

My very first post on my very first from-scratch blog!

This blog is about my daughter Joy, age 4, and my varied musings on what I'm thinking about in context of being her mama.

Joy is a lively girl with a ready laugh and a bucketload of charm. She turns on the charm high-wattage when it comes to wanting adults to do things for her (or with her) and distributes hugs and kisses freely both to current friends and friends-she-hasn't-met-yet.

She can run like the wind, perpetually startling her observers and pursuers. She's physically powerful pretty much all the way around; I first noted in her baby book how unusually strong she was at the ripe old age of two weeks.

She takes life on without fear, climbing and jumping and swimming with enthusiasm.

Joy also has Linear Nevus Sebaceous Syndrome (LNSS), a rare neurological condition that in her case consists of cognitive issues, epilepsy, and a nevus sebaceous skin abnormality on her scalp that was removed in 3 plastic surgeries in her second year of life. She also has autism. She currently speaks about 15 words, down from 80 last fall. She has an extremely short attention span and pretty much runs her mama ragged!

The autism piece of "who Joy is" has been the most useful lens -- so far -- for finding common ground with other kids and families, and figuring out appropriate ways to help her make her way in the world. So to a large extent, I guess this is an autism blog.

But since Joy is a multi-faceted young lady, both personality-wise and in her medical challenges, I'm liable to go haring off all over the place. I'm writing mostly for myself, but also for family and friends already met, and also those not met yet. I hope there will be conversation, because I like conversation, but if not, that's OK too.

Much more about Joy and her family to come in future posts...

P.S. Why Elvis sightings? See the sidebar!