Thursday, July 31, 2008

Rock-a-bye Joy

There's another very important routine to write about tonight -- the bedtime routine.

Bath is generally every other night, but the rest is very predictable: first, I install the double-diaper and the jammies. Then JoyDad gets out the seizure meds, four chewable pills and one oral syringe (she's very good about taking them, thank goodness!) Then some practice with drinking water from an open cup, to wash it all down.

Then I get another turn, holding Joy across my lap on the couch to brush her teeth. She's gotten quite good about letting me get in there with a little toothbrush and toddler toothpaste, though sometimes she shows a bit of displeasure by biting on the bristles! Then after I've done a reasonable job, I put the brush into her hand. "Here's 'one'," I say, and she takes several swipes at her teeth and tries to give the brush back. "Here's 'two'," comes next, and maybe a single swipe. "Oh, do better," I cajole, helping her swipe a bit more. Then, "Here's 'three'," and if she makes a good effort, toothbrushing for the evening is done.

Then it's JoyDad's turn once more. He gets to cradle Joy in the livingroom rocking chair, while I hang out on the couch with Rose for some bedtime reading.

"Rock-a-bye Joy, on the treetop,
when the wind blows..."
and then he pauses and waits. We've been doing this for years, and Joy had gotten quite good at blowing a bit of air between her lips. Then for several disappointing months, it disappeared, but lately it's back again! Joy says, "Whfff!"
"Joy will rock.
When the bough breaks..." another pause. Joy says, "Cccckkh!" for the sound of the breaking branch.
"Joy will fall,
and down will come Joy, cradle and..." pause pause pause... Joy concludes, "Ahhh!"

Next comes "Twinkle, twinkle" with more pauses for Joy's input. And then JoyDad talks softly with her about the day, and reviews things she did and saw. When she's had enough, she tells him "bye-bye!" (which at one point was "nigh-nigh!" but has since morphed.)

When it's "bye-bye" time, he brings her around for kisses: one from JoyMama, one from Rose, then one (or several) from Daddy himself. Then it's off to zip her into her tented crib, usually for an uninterrupted night.

Sweet dreams, sweet Joy!

P.S. As I was contemplating writing about Joy's bedtime, I became aware of two other lovely recent posts on bedtime routines/rituals, one from rhemashope that led me to another from jess wilson. Blessings upon all our sleeping kiddos...

Wednesday, July 30, 2008

Some excellent problem-solving

Joy operates well in context of routines (heck, don't most people?)

One particularly functional routine we've developed is at diaper-changing time. It's Joy's job to put away the diaper cream. She has to open the changing-table drawer, put in the tube, and close the drawer back up.

This morning when she went to open the drawer, there was a problem. She had the diaper cream tube in one hand, and a board book in the other. She tried to open the drawer a couple of times with the hand that contained the tube, with no success. I was half-expecting her to give up -- she's got such a short attention span, and often takes the path of least resistance. But no. She thought about it for a second, put the book down on the floor, completed the routine, and then picked that book back up!

It didn't have the feel of an Elvis sighting... I suspected that the King had not left the building...

Then this evening a similar situation occurred. This time Joy had the tube in one hand, a chewy ball in the other. Without missing a beat, she grabbed the chewy ball in her teeth, completed the routine, and then took the ball back out.

Most excellent!

Tuesday, July 29, 2008

Product Hits & Misses

I'm figuring on doing "Product Hits & Misses" as an occasional feature here, highlighting goodies that have worked well -- and not so well -- for Joy.

But first, a big vacation hit! We just got back from a long weekend in the north woods, at a small rustic lakefront cabin without running water or electricity, but with peace and beauty a-plenty. Joy particularly liked hanging out on the pier, so we did a lot of that. Photo credit to JoyDad:

Now, about the products. We had a new goodie this trip that made life much easier: the KidCo Peapod Plus travel bed.

Joy started climbing out of her crib at an early age. She still won't sleep anywhere that she's not contained; a "big girl bed" is currently out of the question. However, we did manage to make continued use of the crib with a Tots In Mind Cozy Crib Tent:

The tent velcroes around the top rail of the crib, and then the front panel zips down to get your kiddo in and out. It worked so well that we got a similar tent for the Pack-n-Play portable crib that Joy slept in at daycare! We then used a Pack-n-Play with the tent when we went on vacation.

The tent works best on the crib, because you don't have to keep taking it down. The one that goes on the Pack-n-Play has 10 separate tent-pole pieces, and something like 12 clips to attach it to the playpen. It's been a pain in the patoot to assemble and disassemble every time we travel, but at least it was working -- but Joy was growing, and the Pack-n-Play was ceasing to be safe.

Enter the PeaPod. Compared to the Pack-n-Play tent, it's a marvel of engineering. You open the carrying case, and the PeaPod snaps all the way open. Kapow, no rods to assemble, no clips to clip. It does have a thin air mattress that you have to inflate with the small hand-pump that comes with the package, and then you insert the mattress into a zippered compartment at the base of the Peapod. The sides are nicely ventilated, and it comes with a little sleeping bag too. Really nicely designed.

Joy slept lovely full nights up at the lake in her PeaPod. She's also been napping in it at daycare. It's supposed to be good up to age six, so we may get two years out of it, until she realizes that she can zip the panel open herself...

Our product "miss" for attempting the same purpose was a Secret Castle Bed Tent, a tent that fits over a twin mattress like a fitted sheet. We thought that might be a nice way to transition to a big-girl bed.

Cute, huh? Alas, the bed tent didn't have a zipper at the bottom of the flaps, so Joy could crawl right out. Also, when the front flaps are down, there's not enough ventilation and the thing becomes a sweatbox. I tried to fix things by sewing snaps to hold the flaps down, and cut a comforter to fit inside because otherwise she'd be sleeping on tent nylon. Joy simply popped the snaps and refused to nap.

So we gave the bed-tent to older sister Rose for a play toy. At least it's good for something.

Thursday, July 24, 2008

How can you possibly choose?

Joy's big sister Rose, age 6, had to visit the doctor the other day. I took her because her teacher had been concerned about frequent urination -- Rose had been visiting the potty some 15 or 20 times a day. After ruling out infection, the pediatrician said, "Well, I could send you to a pediatric urologist, but I know the first thing that they're going to do, and so I may as well just prescribe it for her if you want." The automatic first-line therapy turned out to be a laxative, on the theory that an emptied bowel can't put as much pressure on the bladder.

Part of me would very much have liked things to be that simple when Joy's autism diagnosis came down!

But there is very little that is automatically recommendable when it comes to autism therapy. Autism comes in so many darn flavors, and it seems there's an argument about practically everything related to autism:
  • What causes it
  • Whether or not it's curable
  • Whether or not one should even approach it in terms of a cure
  • What therapies are useful
  • Who should pay for what
  • and on and on.

The therapies themselves are a stew of acronyms and fancy monikers: DAN, ABA, DIR/Floortime, RDI, Sonrise, GFCF diet, nutraceuticals and more. And our doctors were willing to provide information sources and opinions, but we didn't get prescriptions. The legwork and the decisions were to be ours.

The answer to what therapies are useful depends to a great extent on what you believe you're treating. In Joy's case, we had a genetic explanation ready to hand (the linear nevus sebaceous syndrome), and since there's no miracle fix for that one, our focus from the beginning has been on support and education and quality of life all around.

The decision-making was helped only somewhat by the intensive therapy options approved by the state of Wisconsin and offered in our county. As I mentioned in my last post, there are two options for going down that road: Agency 1 offering Applied Behavior Analysis (ABA)., and Agency 2 offering a house blend of relationship-based therapy, heavily reliant on DIR/Floortime and the Communicating Partners work of Dr. James MacDonald.

Agency 1's offering, ABA, is the therapy with the longest history and the richest publication history. ABA practitioners use positive reinforcements to elicit and reward behaviors (verbal, social, motor) step by step toward specific instructional goals. Enthusiasts claim a high success rate, raised IQs, and improved abilities to function in society. Critics say that if you're all about training behaviors, you get... a bunch of trained behaviors, and not much else.

Agency 2's offering puts the focus on relationships as the context for learning. The theory goes that first you work on eliciting an engaged, persistent, interactive relationship partner, and then you can work on specific content. Enthusiasts say that it only makes sense to start with relationships, because so much of autism has to do with relationship challenges, and point to great outcomes too. Critics say that it's a lot of money to pay for gussied-up playtime.

Even between these two very different approaches, I was feeling indecisive. (Think Tevye in Fiddler on the Roof: "On the one hand... on the other hand... on the OTHER hand...") In the Autism 101 session I attended in February 2007, one of the questions I asked was how in the world one decided between even those two options. The moderator of the session, president of the local Autism Society chapter, reassured me, "You'll know." She said that after reading up and then visiting both agencies, most families find it quite clear.

I didn't believe her, but she was right.

We did an initial intake visit to Agency 1 first. I was very impressed with the intake coordinator I had spoken with on the phone. But the expert who did the evaluation and modeled bits of the ABA therapy didn't get much joy out of Joy. She didn't "light up" for the little requested behaviors, just wanted the treats without the work. Plus when we mentioned the centrality of her sensory issues (all sensory-seeking, all the time!), the response was, "We don't believe in sensory integration disorder." Hmm.

Then came Agency 2. I hadn't had such a good phone experience with the intake coordinator, who was subbing for someone on maternity leave. But the expert who did the evaluation was able to elicit a very different Joy than the one who showed up at Agency 1. Joy seemed comfortable and happy, and ready to interact. Furthermore, we learned that sensory support was integral to their approach, on the theory that a child whose sensory needs aren't being met isn't going to be in the zone for much of any learning at all.


So Agency 2 is the outfit that we're now starting with. We had an initial workshop meeting at the beginning of the week, and have had several in-home sessions as our team members get to know Joy and the family. Joy has been receptive and charming so far; no surprise, as the initial sessions are structured to be very much child-led, so nobody's explicitly asking her to depart from her own agenda so far (though they are getting her to do a lot of interaction and game-playing that is very much their idea of how to expand on her agenda!)

The dilemmas about what kind of treatments to pursue weren't all said and done in this one decision, of course. We've still got the annual dance with the school district, and the whole epilepsy side of things, and more. But this is a big step and a big directional choice.

Meanwhile, about Rose and her potty trips. The laxative had an immediate and pronounced effect, at the lowest dose, and it's not the one you're thinking! It was a placebo effect. The very first day Rose took the medicine and started having to keep track of her potty trips, the number of trips dropped down to something like four or five.

Who knows what therapies are going to produce what results?!

Tuesday, July 22, 2008

Intensive Therapy: Out of the Starting Gate

Finally, finally! Yesterday morning Joy had her very first session of state-funded intensive autism therapy, almost nineteen months to the day after receiving the diagnosis of autism (just before Christmas, December 2006).

The first time we visited her primary care pediatrician after the developmental pediatrician made the pronouncement, she told us that we were fortunate that Wisconsin has such a fine program for intensive autism therapy.

Well, yes and no.

There's indeed a fine program in Wisconsin, funded in part by a special federal waiver that allows Medicaid funding to be spent for early autism therapy, without requiring that the families be in poverty to qualify. Each qualifying child can get up to three years of intensive therapy, with ongoing "post-intensive" dollars to follow. The problem is that the funding has not kept pace with the demand, and the waiting list is growing to frustrating proportions.

There's a fair amount of agreement that the gold-standard in inter-personal therapy for autism treatment involves 30+ hours of therapy per week, and the earlier you get started, the better. There are a number of intensive-level therapy programs & approaches out there, and our county offers a choice between two agencies that operate with the Medicaid waiver funding. More about the choices and their content later! What seems to be the commonality across the various philosophies is the many many hours of one-on-one face time, with lots of interactions and lots of documentation. And ideally, the therapist should be the most interesting and engaging thing in the room.

As you can imagine, this sort of intensity isn't cheap. Out-of-pocket, it's up to $60,000 per year, out of reach for most middle-class families unless you double-mortgage your home and drain your retirement funding and fundraise like crazy. We chose not to do so, instead continuing to pursue what therapy we could get for Joy through the Birth-to-Three early childhood program, and more recently through the school district.

I started making calls on the very day Joy got that autism diagnosis, knowing that the wait was long and getting longer. It was nearly two months before we waded through the initial paperwork and got a visit from a county worker to make sure that Joy looked like intensive-therapy material, and then two months more before they got all that paperwork processed and got her officially onto the waiting list, April of 2007. And then the months started clicking by. When she'd been on the list for a YEAR, the county sent someone out to "re-screen" her and make sure that we hadn't had some sort of magical recovery...

In the meantime, we've gotten involved in advocacy, both for Joy's sake and for others coming down the pike onto that awful waiting list. One of the ways that Wisconsin has attempted to rescue the intensive-therapy program without directly ponying up the money it would take to get everyone off the waiting list and into the program, is to require insurance providers to pick up some of the therapy. Currently, insurance providers in Wisconsin are NOT required to cover anything autism-related, so they don't. This year's attempt to make the insurance companies do the right thing went down in flames at the end of the legislative session, when the leadership of the Wisconsin Assembly used a weaselly substitute amendment to keep the autism insurance bill from coming to the floor (where it probably would have had the votes to pass!)

November's elections are very important...

Anyway, we're very happy to have the therapy available, and very happy to have two fully-funded choices. Not everybody has that advantage, and we're well aware of it. We're cranky beyond belief, however, about that waiting list. Talk about wasting public funds, letting the precious optimal months slip by!

We'll continue with the advocacy, of course. But now it's our turn for the therapy, and we're going to do our best to make sure that it's as helpful for Joy as it can possibly be.

Sunday, July 20, 2008

Good Fences, Good Neighbors

I've mentioned our new back yard fence a couple of times now. That fence, installed on July 1, is in some senses the highlight of our summer so far. We have a long back yard, and only the back edge of the property had a fence when we moved in. The neighbors on one side installed a fence on their side about 7 years ago when they put in a little pond, but that left a huge expanse of potential escape routes (214 feet, to be exact).

We started out hoping that Joy would soon outgrow the dashing game, but as this spring arrived it became clear that back yard play without a fence was going to continue be an exercise in... well, exercise. Whoever took Joy out to play had to stay hyper-alert, and within 5 feet of her at all times. Her sprints happen with little to no warning, and she is ridiculously fast, and she will not stop for, say, traffic or the steep concrete downhill steps not far from our property...

But on July 1, it took a crew of 4 guys from 8:00am to 2:30pm to install a lovely 5-foot cedar picket fence, two gates, "nice" side in (so as to eliminate the crosspieces as footholds).

We didn't want a privacy fence, because we have a great relationship with the neighbor we were fencing off. That relationship continued during the fence-planning & installation process. Even though we discovered that a line of hostas she'd put in bowed too far into the property line and the fence would clip them, and that we'd have to hack back one of her honeysuckle bushes at the back corner of the yards, it didn't fuss her up at all.

And then yesterday, she brought a potato salad to our fence party.

Ever been to a fence party? Neither had we. But we really wanted to celebrate this big improvement in our lives. So we threw a big ol' back yard barbecue, and invited members of our various posses -- church, neighborhood, Joy's daycare & therapy folks, assorted friends from all over town. Summer weekends are full of travel and other commitments (especially since we only gave people 2 weeks' notice!) but we ended up with almost 30 guests, about a third of them kids.

Props to JoyDad for yeoman service at the grill, and getting all the food from fridge to buffet table pretty much single-handedly! I was able to mingle and attend to other details, and keep an occasional eye on the kids who were frolicking with wading pool and sprinkler and bubbles further down the yard.

So who was keeping an eagle-eye on Joy? Nobody, and everybody. Various parents took turns hovering to make sure the kids didn't create too much havoc. But Joy didn't really need a lot of extra supervision! The fence eliminated the urge to dash, and she happily hung out in the middle of the gaggle of other kids, only occasionally popping out to seek an adult to take by the hand and lead into the action.

One of our friends from church, who volunteered this past year as a one-on-one aide to enable Joy to participate in Sunday school, was watching the wading pool scene with great interest. She knows first-hand how hard it can be to keep that hyper-awareness when Joy is in escape mode, and what a departure last night's backyard vibe was from that, as Joy played contentedly in the midst of the kids.

"She's so FREE!" was her remark.

Yes, yes, yes! We'd been aware that the fence had already been mighty liberating to us as parents, but our friend's remark crystallized it for us: that fence is liberating to Joy as well.

Good fences, good (friends and) neighbors, and a mighty fine barbecue.

And tomorrow... we have the kickoff meeting with a new therapy team to begin intensive autism therapy for Joy. Stay tuned.

Friday, July 18, 2008


Quoting police sergeant Dave Laude, from a July 16 Cap Times feature article on Project Lifesaver, an electronic monitoring program for people with autism & Alzheimer's:

It's amazing what these families have to live with. One mother came into my office to sign her son up. The first thing she did was walk around shutting all the doors so he couldn't get out. Can you imagine having to live like that every day?

Consider it imagined. Consider it lived. That's exactly what I do when I take Joy somewhere like a doctor's office, where I'm going to have to let go of her hand.

Joy isn't quite the little Houdini that some of the other kids in the article are. She can only open easy doorknobs, and gives up pretty quickly. We recently installed a lovely backyard fence, which put an immediate damper on her former dashes for the street, and she hasn't attempted either climbing or digging.

Still, in spite of all the watching and hand-holding and planning and door-closing, Joy does escape sometimes. As the article put it,

No matter how vigilant parents are, children with autism get away. In fact, escape stories are family lore.

Our classic escape story happened last fall, on a playdate at a mall play-place with fun tunnels and climbing toys, and a 3-ft high perimeter wall lined with benches. Joy had never climbed the wall, so I thought I was safe to stand with the other mother at the playplace entrance, and keep an eye out that Joy didn't come running out that way. All of a sudden, I realized that I didn't see Joy anywhere. My first thought was that perhaps she'd had a seizure in a tunnel, or out of my line of sight. So we spent a minute or two eliminating that possibility. Then we looked to the great big mall and all the people in it -- and fortunately Joy was trotting back toward the play-place, shepherded by a friendly mom. "She did the right thing and wouldn't talk to a stranger," the guardian angel said, "but I figured she had come from here."

It's true, Joy won't talk to a stranger, since she barely talks! However, she might give that stranger a hug and kiss, and trot away happily with them... we were incredibly lucky that time.

Last night we had another related incident. Joy takes swimming lessons at an indoor pool, and we stay a while after to free-swim. She'd been sitting happily on the pool steps for several minutes, so I took my eyes off her for just a second to watch her sister do something. In a flash, Joy was out of the pool and running around the perimeter at full tilt, in all its slippery danger, and I couldn't dash after her myself without taking the same risk. She slipped and fell once, and I almost caught up, but she popped right back up and kept going, right past two lifeguards before I could call them to intervene. Finally I was able to yell ahead to another mom at poolside to intercept her. Dangerous and embarrassingly conspicuous -- why can't you just holler at your kid to STOP, huh?

We're going to look into signing Joy up for Project Lifesaver, if not immediately, then certainly in time for kindergarten.

Thursday, July 17, 2008

What Is Happening in Her Head?

The following is an excerpt from a diary I wrote on Daily Kos about a year ago, July 2007. Most of it still applies!


Not long after we received the autism diagnosis, I attended a program called "Autism 101" that was sponsored by our local Autism Society chapter. One of the presenters was an autism consultant who has autism herself, a professionally successful woman with a master's degree who wasn't diagnosed with autism until adulthood.

As part of the program, the attendees went around the circle and spoke a little bit about why we were there. I introduced myself and reflected on my daughter and her recent autism diagnosis, and what the diagnosis helped us explain and what it made even more confusing. One of the confusing things for me, I shared, was how to deal with boundary-testing: negative behaviors like swiping things off counters and flinging them, and dashing away at the least opportunity, that she never pulled at daycare but only with her parents. Such "trying it on" behavior felt like something a "normal" kid would pull, and yet we were having no success with setting those boundaries and getting her to respect them.

The autism consultant, I'll call her E., rocked me on my heels with her flat response. "I feel sorry for her," she said.

Ouch. Try being told in front of a public forum that the local expert feels sorry for your child due to your parenting!

And then E. told this story.


E. remembered very clearly one occasion where, as a child, she was being cared for by an adult other than her parents. One of the things that she did that day was that she kicked her caregiver in the legs, a good hard punt. Her caregiver was, quite naturally, furious. "No! Don't kick, you don't kick people! Don't kick! Now, what did I just tell you?"

"Don't kick," E. repeated promptly.

And then she smiled up at her caregiver and gave another good solid kick to the legs.

You can imagine what the caregiver said when E's parents returned. "She knew EXACTLY what she was doing. She knew she wasn't supposed to kick, she even said 'Don't kick,' then she smiled up in my face and hauled off and KICKED ME AGAIN!"


What was happening in her head?

E. couldn't articulate it then, but these many years later, there's a lot she has to tell about the incident.

First, it felt GOOD to kick. Many (most, all?) people with autism have a sensory component to their condition, in which their sensory systems are differently wired. Sometimes they become overwhelmed by too many noises or too much to see and can't sort out what's important. Sometimes they can't stand particular kinds of touch. Sometimes, on the other hand, they crave intense touch or pressure, and literally need that kind of stimulation to be able to focus. Kicking creates pressure. It felt good.

Second, E's repetition of "Don't kick" didn't mean what the caregiver thought it meant. Many people with autism have echolalia, a twist on communication which allows them to repeat quite precisely what they hear, either immediately or some time later, without necessarily understanding it. People with autism can produce strange results on speech evaluations; neurotypical language-learners generally understand more than they say, but with autism and echolalia, it's entirely possible to say more than one understands. So, when E. repeated "Don't kick," she didn't actually "get" it.

Third, people with autism (many, most, all?) tend to think in pictures. The author and livestock handling equipment designer Temple Grandin, who also has autism, is perhaps the most famous voice on this subject. In fact, she wrote an autobiographical work called Thinking in Pictures: My Life With Autism. To Grandin, words are like a second language. Pictures are the primary means that she experiences what is happening in her head. E. thinks in pictures as well. And when you think in pictures, E. explained, the words that make the most sense are the words that can most easily be expressed in pictures. "Kick," for example, is a nice easy one. "Don't," on the other hand, is not. (Quick, everybody, think up a picture in your mind of what "don't" looks like...) So when she heard and said "Don't kick," the important part of the instruction was the "kick." And kicking felt so good, and how nice it was to be invited to kick again! So she kicked.


I'll add yet a fourth aspect to the frame of the story, and that is that many (most, all?) people with autism have challenges interpreting social situations. So when E. publicly declared her sympathy for my poor misunderstood and mis-parented child, I had to take a huge deep breath and remind myself that from her autistic context, perhaps she was not able to project how her brutally-honest words might make a neurotypical mama feel.

What is happening in her head?

There are several parts of E's story that make a great deal of sense in my daughter's context. My daughter definitely has sensory issues, and is in general a sensory-seeker. Running feels good, and jumping, and crashing into things, and splashing in water, and climbing, and teetering on the edges of things -- one of her therapists suggested that the teetering helps her "feel" where her body is in space. She loves activities that provide deep pressure, and she seems to be more focused immediately after such experiences. My daughter also keeps testing higher for expressive language than for receptive language, which puzzled the heck out of us until the autism diagnosis. Not that she repeats long strings of things clearly or accurately, but she does say things that we're not sure she understands, including the word "no." (Her expressive vocabulary, just for context, is about 80 individual words, mostly nouns, not used in combination, and mostly poorly articulated.) [NOTE: this has changed; Joy is now down to 15 words or so, but clearly understands much, much more than she says.]

I'm still floundering around somewhat with the idea that all people with autism necessarily think in pictures. Autism is such a combination-platter diagnosis. There's no blood test or anything that definitive. Instead it's a clinical judgment call, based on psychological criteria in the DSM IV. There are three categories of criteria for autism: social, communication, and behaviors/interests. Each category has four criteria, which one might call symptoms. To receive a diagnosis of autism, one must fit two of the social symptoms, at least one each of the communication and behaviors symptoms, and a total of six symptoms across the board. (Here are the categories and criteria for the autism diagnosis.) I don't have the mathematical chops to figure out how many potential combinations that is, but it's pretty clear that people with different levels of different combinations of different symptoms can "present" very, very differently and still receive the same diagnosis. Neither I nor my husband nor any of my daughter's therapists were expecting a diagnosis of autism when we took her to the developmentalist who diagnosed her. Our daughter is affectionate, loves peek-a-boo games, has a sense of humor, and just didn't fit what little we knew of autism. And yet the doctor pegged her for nine of the twelve criteria. The combinations can be that subtle.

What generalizations are fair to make under those circumstances? Ooo, I wish I knew!

Tuesday, July 15, 2008

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.

Friday, July 11, 2008

When did you first notice...?

Autism takes so many forms, so many paths. (Perhaps you've heard the phrase "if you've met one person with autism... you've met ONE person with autism.")

Each family has a different answer to the question "When did you first notice that something was unusual about your child?" That question came up repeatedly as we went down the path of seeking a comprehensive diagnosis for Joy.

So here's my answer:

We had two big measuring sticks for Joy's development. The first was her older sister Rose, born 28 months earlier. The second was Joy's daycare buddy, a little guy just two days older. Our families did a daycare swap for the first two years of their lives, so she had an exact age-mate who was always there.

Physically, Joy did some things before her daycare buddy, such as rolling over and crawling (and maybe walking too, if I'm remembering right). Those were all things she did at an earlier age than her sister too.

On the other hand, her sister was a verbal whiz, with 75 words by 14 months. Joy wasn't doing that. She seemed to have some babble, and I kept trying to count words, but they just weren't coming. Plus I'd think I was hearing a word, write it down, and then it would disappear. Elvis sightings! but we didn't know it then. Her daycare buddy wasn't as verbally precocious as her sister, but he eventually started to pull ahead with words too.

Those weren't immediately definitive, though. After all, there's a wide range of normal, and we kept reminding ourselves that comparisons can be less than helpful.

The first unmistakable red flag was a certain CD-player toy that we brought out at the age of about 10 months. If you pushed the yellow button on top, the "CD" would spin, colored lights would flash, a song would play. Then there was also a little noise-making barrel to spin, and a couple of noise-making buttons to push.

All Joy wanted to do was spin that barrel. She had a toy in her crib with a similar barrel, which in that case was the correct trigger to light the lights and play the music. But the CD toy required the push of the yellow button.

We showed it to her daycare buddy, and he "got it" right away. Showed it to him once, he was making it go again and again. Joy, on the other hand, took two weeks to get the idea, full of demonstration and hand-over-hand.

Another memory that really sticks out for me was some time later, age 18 months maybe, when we were embarking on early childhood Birth-to-Three evaluation. I commented to the first caseworker that when Joy and her sister and her buddy were at our front window, and I'd be pointing out something like a squirrel or rabbit, Rose and daycare buddy would take an interested look and Joy generally would not. I remember a bit of self-deprecation as I said that, qualifying it with a "maybe I'm imagining things-- might not be important anyway."

I wasn't imagining things, and it's important.

Wednesday, July 9, 2008

Five reasons to be cheerful!

  1. No seizures yesterday!
  2. Wonderful long nap yesterday too (that would be Joy, not me, but still).
  3. We've had a fully-fenced back yard for a full week -- no more mad dashes into the street, with mama in hot pursuit!
  4. Joy is beginning to prefer her sister's high-backed booster seat in the car to her own almost-outgrown convertible carseat, and is staying in it well.
  5. Beautiful day for biking to work. Take THAT, Big Oil.

Tuesday, July 8, 2008

Next year's new words

Merriam-Webster announced yesterday that they've added over 100 words to the their New Collegiate Dictionary.

Among the new words: edamame, fanboy, netroots, dwarf planet.

I think, however, that they're still perhaps missing a few.

The other night I was playing Boggle with friends, and the word "stim" made its way onto my list. Here's how it's defined in the Double-Tongued Dictionary:

stim v. to self-stimulate; (specifically) among autistic people, to fixate on a comforting or compelling thing or action (such as rocking or humming); to perseverate. Also n., a (self-)stimulating thing or behavior.

Joy's got a lot of stimming going on this summer. When let loose on a lawn, she immediately falls to pulling out clumps of grass and running it between her fingers. At the park, the gravel or the chunks of old tires are much more interesting than the play equipment.

But stim isn't in the mainstream dictionaries yet. So I couldn't claim a point for it, even though another player with connections to the autism community backed me up on the definition.

Wonder what year it'll be before the list of new words added will include stim? Or perhaps neurodiversity?

Meanwhile, on the next round, the player who knew "stim" and I both came up with the word "celiac." And cancelled one another out, because you only get to count points for words that nobody else finds!

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!