It Has Gotten Better

Back in September when I wrote about my terrible, horrible, no-good, very bad experience with Joy's first day of kindergarten, I mentioned another even-worse breakdown that I'd have to write about someday. That experience came back to me this week at swim lessons, so I think it's time to tell the story.

During Tuesday's lesson, I was avidly peering through the glass at the pool waiting-room, watching Joy interact with a new swim teacher. (The wonderful one she started with has left the school, gah! but Joy loves the water so much that she smiled for the new gal anyway.) All of a sudden, a daddy behind me started telling me and another mom how he was a victim in a bizarre robbery incident that got written up in the newspaper. I'm thinking, gosh this guy looks familiar. As he proudly told us how he hassled the cops because he didn't want to tell them his name, and resented that they hassled him back, the feeling of familiarity grew. And suddenly, it clicked. I'd met this guy four years ago at the Children's Museum.

It was about this time of the season in 2007, and I'd been taking Joy to a weekly toddler-music program at the museum. It wasn't an easy thing to do. Joy likes music, but she didn't participate the way the other kids did, and I had to hover carefully to make sure she didn't grab for the other kids' tambourines or whatever. It had only been a few short months since the diagnoses that put the autism and LNSS labels to Joy's situation, labels that still sat like a massive weight on my shoulders.

Suddenly Joy decided she was all-done, and headed for the door. There were two little girls in her way, and instead of going around them like I expected, she gave the first one a shove. The two went down like dominoes, with the second domina grazing her head on a table on the way to the floor. A little blood, a lot of wailing -- and as I started to apologize to the girls' father -- THIS GUY -- his face twisted with anger and he snarled/spat "Thanks a LOT!" He hustled his daughters furiously out of the room before I could say another word.

And I started to bawl. The ugly-cry. Hot, awful tears that would not stop. The sobs just got worse when people started being kind to me... an acquaintance who worked another children's museum program and told me that "this guy" had a museum-wide reputation for unpleasant interactions... another mom with a kiddo on the spectrum who had made great progress... yet another mom who pointed out that any kid might have dealt that shove. It was all so supportive, and yet I couldn't pull it together. Someone even went and tipped off "this guy," who tried to apologize to me on the way out. I was over-reacting so hard to his initial over-reaction, I could hardly acknowledge him. It's a wonder I didn't crash the car on the way home.

Four years later. Once again "this guy" and I have our kids in the same program -- but this time my girl has the support she needs and is having a ball, and I'm in a much better place too, the start of kindergarten notwithstanding. It's kind of amazing to look back over those years and see how far we've come, how much we've learned, how much we've done, how much Joy has grown and matured and progressed.

It has gotten better.

And, we may even be switching our swim lessons to another day so we can have yet a third teacher this term, who happens to be the same wonderful teacher who taught Joy's very first swim lessons in the summer of 2008. Which would have the nice little bonus that I wouldn't even have to hang out poolside with "this guy"!

A Tale of Two Surgeries

We've been moving toward two different outpatient surgeries for Joy, for a while now.

One of them has to do with the scar from her nevus-removal. Joy had three surgeries in her second year of life to remove the nevus-sebaceous "blotch" from her scalp, so that it would not run the risk of cancerous changes later in life. Cosmetically, it was good to have it gone too! It healed up quite neatly, but her scalp stretched as her head grew, and now the scar is about a quarter-inch wide. Nobody notices it when her hair is long, but last year when she had a buzz cut so she wouldn't pull out all her hair by the roots, you could see it pretty clearly:



Way back when she had the surgeries, the plastic surgeon advised us that we'd probably want to do a scar-revision surgery once Joy's head had grown, maybe before kindergarten -- and that our insurance generally covered scar-reduction because it was a follow-up to the original covered surgeries. We were going to get it done last summer, but then we had other health issues to contend with and decided to wait till this year.

Meantime, we discovered that Joy has a small umbilical hernia. With many kids, little childhood umbilical hernias close up on their own by the age of 5 or so. And when it's as small as Joy's is, even past age 5 they'd normally leave it alone. But we've got a bit of a family history -- JoyDad had such a hernia that "popped" on him as an adult (as in, lots of pain and two surgeries, one on an emergency basis). Plus, Joy has unusual pain responses and isn't reliably able to show us where it hurts, just in case things did go wrong with hers.

Fortunately, the surgeons to do both procedures are in the same network. Joy's pediatrician helped us come up with the clever idea to do both the procedures in one event, so we'd only need one go-around with the anesthesia. The surgeons agreed, their schedulers got us all set up, we were on the calendar for June 2...

And then our insurance denied the scar revision. JoyDad went to a hearing to make our case, and they denied it a second time. Further pursuit of the case might involve legal consultation, and would certainly not be settled in time for the scheduled surgery date.

Our current plan is to pursue the hernia repair, but not the scar revision.

Thought experiment: what if these surgeries were for Rose instead of Joy? Would we react differently?

I can tell you right now, for Rose the scalp-scar would be a BIG DEAL. She's sensitive about her appearance, sensitive about teasing. If she reached adolescence with such a scar, it would be an emotional issue and a decided challenge to overcome (though I've no doubt she'd deal with it if need be). Pushing the case would be worth some sacrifices. I think I'd feel the need to at least consider the out-of-pocket option.

If Rose had the hernia, however, we could let it ride. She could tell us immediately if something did get to the point of hurting.

Meanwhile, Joy has shown no self-consciousness whatever about her appearance so far (and why should she, adorable as she is, in our unbiased opinion?!) She interacts with mirrors enough to be drawn to them and make funny faces -- does that mean she knows its her, though? As far as noticing teasing, we've been fortunate that she hasn't encountered it yet. Though of course she's off to school in just a few months.

But it doesn't take a scar to mark Joy as different.

Given where we are right now, and what we know about autism and about the world: the people who are sufficiently open of spirit to accept Joy for the amazing person she is, are going to be entirely unfazed by the presence of that scar.

The people who are going to be cruel to her will find plenty of differences before they even notice her scar.

Plus, the scar may simply never matter to her, even if/when she becomes aware of it. And if it does turn out to matter? Maybe that's something she ought to get to decide when she is at a point to be making such decisions.

With the hernia, though, that could potentially turn into a medical emergency. Even, possibly, way down the road when JoyDad and I might not be around, and nobody remembers that JoyDad had a hernia history. And we can't guarantee that Joy will be able to communicate about it.

So we're on the calendar for a hernia fix, still in early June. Think good thoughts for us, that the surgery goes smoothly and doesn't put any major setbacks into Joy's wonderful developmental progress these past weeks, and that we've made the wise call.

Linear Nevus Sebaceous Syndrome

There's a new information site and support group in town.

(Well, OK, in town virtually speaking.)

Linear nevus sebaceous syndrome is a rare neurocutaneous condition about which information has been awfully hard to find, and the lack of a dedicated support group has left folks (like Joy-parents) with no place to turn.

Behold, LNSS Connections.

And its corresponding LNSS-Connections Yahoo! Group.

Comments, suggestions, etc. welcome!

Will Squeak for Grease

Remember my agonized howls back in March, when Joy got referred for an appointment with the same pediatric opthalmologist at the same clinic where two years ago we'd had the worst clinic experience EVAH?!

We had the appointment this morning.

It went fine.

SO many things were different.

• Today we had the first appointment of the morning, so no crowded waiting room.
  
  
• This time I explained our situation up front to anyone who would listen.
  
  
• The waiting room itself was tidy and whole, as opposed to the construction that was underway in September 2007.
  
  
• We had a minimal wait before being called the first time (a short enough wait that Joy was entertained by the waiting-room goldfish the whole time.)
  
  
• The doctor came promptly after the tech was done.
  
  
• We knew in advance that Joy's eyes would need dilation so didn't have that element of surprise.
  
  
• We got to wait for the dilation to take effect in a private exam-room with low lights.
  
  
• They came for us in EXACTLY the 30 minutes allotted, rather than the hour-plus we suffered through last round.
  
  
• No seizures. As expected, but it helped so much! (We were so much in seizure-mode last time, it didn't even occur to me to TELL the doctor that it had happened. She was surprised not to find it in her notes when I recounted the experience this time around.)

We were outta there in an hour and a quarter. What a marvellously well-oiled visit!

The point of the visit was a concern on our part that we keep seeing episodes where Joy's eyes don't track well together. It seems worse when she's tired or out of sorts. Fortunately she performed for both the tech and the doc, so they could see what I was talking about! (Joy was, in fact, remarkably cooperative with the whole appointment.)

The diagnosis is strabismus, but not serious at this point. The key seems to be that she can pull her eyes back into focus on her own. Given that state of affairs, the doctor doesn't want to do anything beyond watching and waiting.

It's a brain thing rather than a physical-structure thing -- her eyes themselves look healthy -- and nothing that they have an easy reliable fix for. The next step up would be an eye-patching routine (yeah, she'd love that) and the escalation beyond that would be surgery on the eye muscles (about a 70% success rate, and I neglected to ask exactly what constituted "success").

We're to go back in a year, unless things get outta control and we have to go sooner. But for now, Joy's overcoming it all by herself. So very much this kiddo has to contend with. I'm very proud of her, and will gladly squeak on her behalf whenever necessary!

P.S. Tomorrow is the first blog-o-versary of Elvis Sightings. Hard to believe it's been a whole year since I first asked, "Is this thing on?"

Photo Wednesday: Buzzcut Drawback

Here's the one big reason that Joy's buzzcut is probably not a long-term "look" for her:


It's the scar from her nevus-removal. When her hair is longer, the scar hides nicely. With the buzz, it's as exposed as can be.

Rather a bummer, really. The short cut is so cute on her, otherwise! And SO easy to care for.

So as not to end the post on a down note, here's a reason to be cheerful: the tulips in our front flowerbed.

Ritardando

It's handbell concert season again, which means the schedule is crazy and my fingers are aching from holding two (and sometimes three!) bells in one hand simultaneously.

So perhaps it's natural that the bells should come to mind in relation to a cluster of posts last week, started by the incomparable Mama Mara, who posted a powerful reflection called Retarded Isn't Stupid, Mama Mara! Then came Cale over at Spectrum Siblings, who posted Retarded Isn't Stupid, Cale! And StatMama followed up with Developmental Disabilities, in which she pointed out that the word "retarded" quite literally means "slow".

And what's so bad about "slow"?

Slow is something we've actually been working very hard on with the bells. We've got a couple of pieces that that derive their beauty from a slow tempo -- like Gershwin's "Prelude No. 2" which Gershwin himself described as a "blues lullaby" but I think is actually a mighty seductive piece, not necessarily conducive to sleep! Another of the pieces, Brahms' Hungarian Dance #5, is chock full of tempo changes... and wouldn't you know, the big challenge is the slowing down (ritardando) in coordination!

Joy does not technically have a diagnosis of mental retardation, though in an earlier version of the DSM that would likely be the box that fit her best. (Diagnostic substitution. Powerful stuff when it comes to arguments about autism and "epidemic" language...) Right now we're calling it "developmental delays" or "cognitive issues" because we really don't know how to tease out what aspects of the delays are mediated by the autism, and what would be there if the autism weren't. Certainly her diagnosis of linear nevus sebaceous syndrome traditionally comes with a mental retardation component -- but not always. And we surely do have the sense that Joy isn't letting us in on everything that's going on in that mind of hers. In the words of her school district team leader: "Her file drawers are full! We just don't have the key to the cabinet."

But whatever word we use to describe Joy's trajectory so far... there's definitely a component of slow.

And why are people so down on "slow"?

I'd been plotting a post about the virtues of "slow" myself, and then I came across a wonderful column in this week's Mennonite Weekly Review, by Melodie Davis, called Slow is Good -- Very Good. It's gorgeous stuff, too good not to share. I'll intersperse her words with mine, OK?

Slow is a walk.

Slower still is a walk with a toddler.

Slow is a porch-swing and a long tall cool drink.

Slow is reading aloud.

Slow is a stew simmering all day in a crock pot.

Slow is incubating a baby for nine months.

Slow is hours of nursing, rocking, dozing with baby.

Slow is the food you started from seeds in the ground in the spring, weeded, watered, harvested, preserved, and didn't consume until the middle of winter.

Slow is melting into the arms of your spouse and just letting the moment linger, not worrying about what's next.

Slow is a delightful pace for what might come next as well.

Slow is focusing totally on the person talking to you during coffee hour at church and not thinking about the three other people you have to catch before they scurry away.

Slow is focusing totally on your child, giving yourself over to whatever activity they're playing, for as long as they care to keep it up.

Slow is meticulously hand-stitching every inch of heirloom wedding quilts for your grandchildren.

Slow is the sewing basket, and a pile of mending, and a classical CD on the stereo.

Scripture encourages us to be slow to speak and slow to become angry (James 1:19). God is slow to anger (Neh. 9:17).

Prov. 14:27 advises that “a patient man has great understanding, but a quick-tempered man displays folly.”

Moses complained that he was too “slow of speech” to undertake the task of speaking to Pharaoh and being a leader for the Hebrew people (Ex. 4:10). Yet look how God was able to use Moses.

Amen.

And, ritardando.

The Eyes Have It

We had a great big Agency 2 team meeting at our home the other evening, that really brought home the magnitude of the plate-spinning we (I) are doing on Joy's behalf these days.

There were 11 people at the table:

• 4 House Blend baristas (including a brand-new one, we've had a spot of turnover)
  
• the House Blend senior therapist
  
• the House Blend lead therapist
  
• the county case manager
  
• the school-district team leader
  
• Lynda from daycare
  
• JoyDad
  
• JoyMama

It was a fine meeting, lots of positive Joy-stories and a good opportunity to get on the same page with some things that we're doing with her PECS photos and such. We sent a plate of on-sale, store-bought cookies around the table. I couldn't believe how appreciative everyone was. I guess people are too overwhelmed or don't think to do those little hostess-y, favorite-place things for their wonderful therapists?

The next day, JoyDad gave me an extra hug and thank-you for all the coordination I do to keep this whole show moving. (That would be what Maddy recently referred to as "wrap-around services," I believe.)

Hug appreciated! It's a crazy edifice we've built here, especially when you consider that this still isn't EVERYONE who is on Joy's team. We were missing one barista who had a conflict with the meeting time, and Joy also has a speech therapist and an occupational therapist with the school district who weren't involved with this meeting. Then there's the team at church, where she has two Sunday-school teachers and TEN different volunteers (one for Sunday school and another for worship, a different pair every week of the month). One of those volunteers did the original recruiting and scheduling, which I appreciate deeply but which does not relieve me of the responsibility to let the right people know when we'll be missing a Sunday, for example. In a similar vein, the Senior therapist is in charge of scheduling the House Blend barista sessions, but I'm the one who has to pick up the phone and go scrambling if someone doesn't show up, not to mention making sure that either JoyDad or I will be in the house during the sessions!

And then there's the primary care pediatrician, and the pediatric neurologist, most excellent partners indeed.

And then any other specialists as needed...

Which brings me to our latest new wrinkle. JoyDad has been noticing for some time that Joy's eyes don't always seem to be tracking well together. I don't see it as much as he does (I think mostly I don't want to know, LA LA LA LA....) but eventually even I had to admit it. I did check informally with her neurologist to confirm that it didn't sound seizure-ish, but rather strabismus-ish.

Here's why I don't want to know. When Joy was diagnosed with linear nevus sebaceous syndrome (LNSS), we went through a round of specialist visits to check out some of the things associated with the syndrome. One of those "things" is ocular abnormalities. So we went to a pediatric opthalmologist in September 2007.

That eye-check visit was THE WORST clinic experience I've ever had with Joy. And this is a girl who has had 3 plastic surgeries under general anesthesia, a sedated MRI, a 4-hour video EEG, the list goes on and on. We'd arrived on time for the eye-check and ended up waiting for nearly an hour to see the doctor. The waiting room was crowded and noisy and under construction. We went through all the snacks and toys I'd brought along in the first 30 minutes. Then Joy had a seizure, if I'm remembering correctly, putting her in a foul foul mood. Then finally we got to see the doctor... for the FIRST time. Oh, hadn't anyone told us... they needed to dilate Joy's pupils. Please go back to the waiting room for another hour to give the drops time to work! I went back to reception and begged to be allowed to go home and come back, just a 5 minute drive. Well, OK, they finally agreed, but you have to be back in 45 minutes to be sure you don't miss the next round with the doctor. So we made it back in 45 minutes... and then waited ANOTHER 40 minutes, Joy with wide wide pupils and refusing to wear anything like sunglasses on her face. Joy and I were both basket cases by the time we saw the doctor again. The doctor was barely able to catch a quick peek into those poor sensory-overloaded dilated eyes, and in that quick peek didn't see anything worrisome.

Alas, strabismus is on the list of ocular abnormalities that can be part of LNSS. (And associated with autism too, I think maybe?)

So I dragged and dragged my feet about contacting Joy's pediatric office this time, but finally eventually did, telling my whole sad story about why I was really really hating the idea of an eye appointment. I didn't get to talk to the pediatrician himself, but nurse who called back told me that he'd recommended a pediatric opthalmologist who happened to be the same one we'd seen before. Not that I had anything against the doctor -- we really didn't get to interact with her much -- but she's still at the same clinic!! As my dear friend Mama Mara would say, GAAAAAH!

The nurse tried to talk me down. You just tell them your story, she said, tell them Joy's situation and that she CANNOT have another experience with those kind of waits in that kind of waiting room. If they give you any guff at all, talk to the clinic manager. Just don't take no for an answer. They'll take care of you if you escalate it properly.

Friday morning I heaved a big sigh and went to the phone. I spoke to a very nice appointment-desk lady who was very sympathetic. She put us in for a first-appointment-of-the-day so we'd get in quicker, with fewer people in the waiting room. If there's an exam room available that day, we can maybe wait there... while we wait for her eyes to dilate... no, ma'am, no way around that. This kind of appointment for this kind of concern, we've got to do the dilation. (GAAAH!)

She says she made all sorts of notes on our record, so we can have something to point to when the appointment actually comes around in July. I'll have to talk to whoever is in the clinic that day, though, about actually like getting them to honor any of this.

LA LA LA LA, I'm not going to think about this again till summer... unless you have some strabismus-related or waiting-room-related wisdom to share...

Isn't there a therapy schedule I can go coordinate somewhere, keep myself occupied?

Evolving Definitions

So, what IS autism, anyway?

Not a rhetorical question, that.

I suppose that on some philosophical level, there is a knowable "something" that is the quintessence of that which we call "autism."

Problem is, we haven't managed to catch up to it yet, either from a causality standpoint or a definitional standpoint.

When I first began to learn about autism, I took a line of thought that I think I've since outgrown... I hung my hat on the clinical, psychiatric definition of autism that formed the basis for Joy's diagnosis. That definition comes from the Diagnostic and Statistical Manual of Mental Disorders, published by the American Psychiatric Association. The most recent edition, the 4th edition, came out in 1994, and is known as the DSM-IV. I referenced in a previous post the peculiar combination-platter approach that checks off certain criteria in certain groupings to constitute an autism diagnosis:

A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3)

Uncle Schnirelmann obligingly contributed to the comments of that post a calculation of the number of potential combinations!

Here's the thing, though. This particular combination-platter that "is" autism has only been on the books since 1994. Autism was first added to the DSM in 1980; PDD-NOS (which broadens the autism spectrum considerably) was added in 1987; the autism definition expanded yet further in the current 1994 version, including the first mention of Asperger's.

Is autism in-and-of-itself really only the latest psychiatric definition? Did autism an sich (German for in-and-of-itself) actually change? Surely a reference book doesn't have quite that kind of power, right?

For anyone still hanging his or her hat on the clinical definition, hold on to the brim, because the world of psychiatrically-defined autism will be changing again, in not too many years.

The new DSM-V is due out in May 2012. The American Psychiatric Association started the wheels of the new edition turning as far back as 1999, in collaboration with the National Institute of Mental Health. There have been conferences and task forces, and starting in May 2008, 13 different work groups were convened to deal with different areas in the purview of the DSM. Autism is covered by the Neurodevelopmental Disorders Work Group, chaired by Susan Swedo, MD.

I didn't know all this off the top of my head, of course; got it from the American Psychiatric Association web site on the upcoming DSM-V. I started poking into this due to a blog post called Sausages and Legislation by afbh at Whose Planet Is It Anyway? The post references an LA Times piece from earlier this week, regarding a dispute between psychiatrists as to whether the process of assembling the DSM-V is going to be primarily a transparent process, or a closed-door process.

So that got me wondering, what exactly do we know about the status of the autism definition revision at this point? And that led me to this brief Report of the DSM-V Neurodevelopmental Disorders Work Group, dated November 2008.

The report lists three main areas of discussion for the work group:

1) Possible modification of ADHD criteria to allow for co-morbidity of autism and ADHD (currently excluded). The ADHD & Disruptive Behavior Disorders Work Group has agreed to consider this possibility.

2) Discussion of the validity of Rett’s disorder as a separate disorder and inclusion of a new modifier within the Autism Spectrum Disorders (ASD), which might include genetic and medical disorders and other biologically-definable conditions.

3) How to address Pervasive Developmental Disorders – Not Otherwise Specified (PDD-NOS). The individuals currently diagnosed with PDD-NOS may still be described in DSM-V, but the work group will discuss whether they can redefine ASD in such a way that the PDD-NOS diagnosis isn’t necessary, as this diagnosis currently captures a very heterogeneous group of individuals.

Then there are eight additional questions, and various subcommittees. I'm hoping this gets wider play in the autism blogs -- Kristina at Autism Vox has started that ball rolling. I'd like to see someone eventually take it in turn to invite discussions of each of the points and questions separately. (Not to worry. I won't inflict that on my particular readership!)

I will just comment a bit, though, on the one of the first three points that jumped out at me, and that's point #2, about the interface between autism and other genetic or biologically-definable conditions. The dual-diagnosis thing has been of particular interest to me, given Joy's combination of autism with linear nevus sebaceous syndrome. In our case, we've been conceptualizing Joy's autism as falling somehow under the LNSS umbrella. But I've also heard people referring to their quests to "rule out" autism by testing for genetic known-factors like Fragile X, and I've wondered why it couldn't be both -- especially since there's only one lone genetic exclusion in the DSM-IV, and that's Rett syndrome.

It's always seemed strange to me that Rett should be singled out, and at least mildly concerning that if the list of exclusions were to grow explicitly, it could have a massive impact on the eligibility for autism services of people who also have Down Syndrome, or Fragile X, or LNSS, or whatever. The work group report implies, though, that there's discussion about taking it in the other direction, maybe with explicit inclusions?

Fascinating stuff. I'm hoping that the official discussion stays as transparent as possible.

Taking the Lane

I've mentioned a couple of times that I have a rather nice bike-commute to my part-time job. It takes about 20-25 minutes each way, most of it is either bike lane or bike path, some of it is lakefront, and there are just enough inclines to make it a bit of work without being too discouraging.

The most dangerous bit is a left turn that happens near our house, crossing a busy street. Left turns can be tricky. In general, the safest way is also the scariest -- you have to leave your bike lane, merge into traffic and act like a car for a bit, blocking other cars until you've completed the turn.

This maneuver is called "taking the lane."

Now, one doesn't HAVE to take the lane. The more timid route is to come to a dead stop in your bike lane, wait for all the traffic both ways to pass, and then quickly cut across the whole street. Trouble is, there may be other bikers behind you, who may or may not want to turn themselves.

Alas, my bike commute ends for the season when the Daylight Savings switch comes around in the fall, even if the weather is still good. Once we "fall back," the left turn near our house on the way home begins to happen after sunset. And I don't play traffic games on a bicycle when dark is falling!

In past years, this is when I begin to turn into a hibernating pudding. At the time I most need the exercise (yes, I've finally realized I do have some seasonal-affective issues, on top of the holiday feastings), I lose my best regular workout. Fortunately this year, the Couch to 5K training program came along just in time. I'm midway into week 3 now, and it still feels pretty do-able. We're also getting an exercise bike to go with the treadmill. Maybe after the 5K I should train for a triathlon? Nahh, let's not get ahead of ourselves...

Anyway. These past few months I've been blogging have been an interesting "take-the-lane" time for me in other ways too. I've found myself to be more of an idea person, and being unusually forward in acting on those ideas. Things as small as -- getting in touch with the principal & PTA co-presidents to inquire whether there might be some way to get the city to do a better job of snow-removal on the sidewalks across from the elementary school, which was a real pain in the patoot during last year's record snowfalls. (My e-mail turned into a PTA board meeting agenda item; people-who-know-people inquiries are underway).

Two potentially larger things are spinning with my plates now too. Remember my dad's lovely review of beyond.words by dre.dance? Suddenly I got the itch to try & bring the production to my city! I've been in touch with the director, and the booking agent, and some contacts both in the arts & autism community around here... it may or may not happen, particularly in this economic climate, but wouldn't it be too cool?

Second, I've been taking some steps on my idea of creating an online information source and support group for linear nevus sebaceous syndrome, something that is sorely lacking on the web right now. I've got a potential partner lined up for maybe providing the domain & web hosting, and I've collected a bunch of information from the medical library -- working on a draft of the site, in all that free time of mine.

Lots of "taking the lane" going on, even with the bike commute over for the year! Now that I've told you all this, it gives me extra accountability to keep moving on these projects. I'll let you know.

---------

And in further updates: we're doing better on the sleep front, helped by melatonin, nap management, a white noise machine, and we're now waiting/weighting on the weighted blanket to arrive by mail. Maybe the dimmer switch is moving in the right direction too. We can hope.

And yes, we made two months seizure free! Woo-hoo! Neurologist appointment later this morning (I really must go get ready for the day)... we'll see what that conversation brings.

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!

=======

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!