Sunday, March 23, 2008

Monday, March 10, 2008

Diagnosis

"Diagnosis" isn't a good word, is it? Neither is "rare birth defect" or "syndrome." But before I freak you all out, I should tell you that the diagnosis we got at Madelaine's opthamologist appointment last week- Duane's Syndrome II, a rare birth defect- actually isn't all that bad.

So, to back up, at her four month pediatrician visit, the nurse practitioner noticed that her right eye seemed to be turning outward, and said she would check again at six months. We took her for her six month appointment a couple of weeks ago, and the n.p. again noticed an eye turn. So we scheduled an appointment with one of the few pediatric opthamologists in the Lehigh Valley, a doctor with a really good reputation, and took her in last Monday.

Are you wondering how the vision of a 7-month-old can be tested? Yeah, I wondered that before her appointment too- and found it surprisingly hard to find that information on the net (although I eventually found some info.) Basically he pulled out a few toys and watched how she tracked them, then tried to hold her head still while she tracked them (which freaked her out and made her start writhing and screaming- so I don't know how he could really tell anything that way. I guess he's very experienced at noticing subtleties.) He also put dilating drops in her eyes and looked at them through some special lenses, and was able to determine that way that she had a slight astigmatism in both eyes, but not bad enough to need glasses yet. (Yes, they can put glasses on a baby.)

So the conclusion is that she does indeed have a form of strabismus (which is the medical term for an eye turning); but it is almost certainly not the intermittant exetropia that I thought she had (which would mean right eye drifting outwards occasionally.) He is pretty sure she has what's called Duane's Syndrome, Type II. I had never heard of that before, so of course when I got home I did what most 21st century parents do- I got a second opinion from Dr. Google. It was actually really hard to get good information without a lot of technical jargon. Here's a sample paragraph from the first result when you google "Duane's Syndrome."

DS is a congenital ocular motility disorder characterized by limited abduction and/or limited adduction. The palpebral fissure narrows (ie, the globe retracts) on attempted adduction. Upward or downward deviation may occur with attempted adduction because of a leash effect. Often associated with this condition is a tether phenomenon consisting of overelevation, overdepression, or both during adduction as the retracted globe escapes from its horizontal rectus restrictions. It is a condition of aberrant innervation that results in co-contraction of the medial and lateral recti in the affected eye. Therefore, DS can be considered to be congenital miswiring of the medial and the lateral rectus muscles such that globe retraction occurs on adduction.


Helpful, isn't it? Let me try to give you something a little easier to process (This was written by the mom of a kid with Duane's):
Put more simply, Duane's Syndrome is a type of strabismus (misalignment
of the eyes). Duane's is a disorder with which a person is born. It
includes several parts. Often the most noticeable feature is a limit in
the horizontal movement of the eye. One or both eyes may not be able to
move all the way outward towards the ear (abduction) or all the way
inward towards the nose (adduction).


There can also be a "narrowing of the palpebral fissure". This means
that the eyelid may close partially and the eye appears smaller. There
can also be "retraction of the globe," which means that the eye pulls
back into the socket. Last, there can be an "elevation or depression" also
called an upshoot or downshoot. In some cases, when the eye attempts
to look inward towards the nose it moves upward or downward.

These features vary in severity or visibility depending on the case of
Duane's. You may find that it is hard to see evidence of some of these
features in looking at the person you know with Duane's because Duane's
varies a great deal from one person to the next. The extent to which
these major features are present tends to remain about the same
throughout a person's lifetime.

There are three types of Duane's. The type does not indicate the
severity of the condition. Either one or both eyes may be affected. Even
within these types cases vary a great deal.

Type 1: Limitation or absence of abduction (outward horizontal movement
towards the ear). This is the most common type.
Type 2: Limitation or absence of adduction (inward horizontal movement
towards the nose).
Type 3: A combination type with limits in both inward and outward
movement.

So, the opthamologist is pretty sure that Madelaine has Type II Duane's in her right eye, so that her right eye's ability to turn inward to the nose is in some way compromised. It seems to us (based on photographs and what we see when we look at her eyes) that she DOES have full or almost full range of motion in her right eye moving towards her nose- it's just that on a regular basis, when she looks at something to her left, instead of moving her right eye towards her nose she turns her head.

What causes Duane's?

This is still something that is largely unknown. The cranial nerves and
ocular muscles develop early in pregnancy, between the 3rd and 8th
week. Researchers think Duane's results from a disturbance in normal
development of the embryo from genetic or environmental factors. As with any
condition, mothers often worry that there was something they could
have done to prevent the problem. However, people should be aware that the
causes of Duane's are unknown and that most women with children with
Duane's report they had healthy, uneventful pregnancies.

How frequent is Duane's Syndrome?

Duane's is a rare condition. Strabismus is relatively common with about
3 percent of children affected. Duane's Syndrome makes up
approximately 1-5 percent of all strabismus cases. In 80% of cases, only one eye is
affected. Duane's more often affects the left eye (60 percent left
eye, 20 percent right eye, 20 percent both) and is more common in
females(60 percent) than in males.

So here's a little number crunching: if there are 300,000,000 people in the US (is that about right?), there would be about 9,000,000 people with some form of strabismus (eye turn). So the number of people with some form of Duane's would be 90,000-450,000. Duane's Type II is the rarest form of Duane's, with only about 7% affected (according to several websites), so that would mean about 6,300 to 31,500 cases of Duane's II in the U.S. Only 20% of cases affect the right eye only (assuming that statistic is true of Duane's II and not just Duane's overall), so that would be 1,260 to 6,300 cases of right eye Duane's II in the U.S.

Our kid is special!

Duane's Syndrome is listed in the database of the National Organization for Rare Diseases.

From the technical paper I first mentioned:

In 70% of patients, DS is the only disorder the individual has. However, other conditions and syndromes have been associated with DS. These include malformation of the skeleton, ears, eyes, kidneys, and nervous system, as well as the following: Okihiro syndrome (an association of DS with forearm malformation and hearing loss), Wildervanck syndrome (fusion of neck vertebrae and hearing loss), Holt-Oram syndrome (abnormalities of the upper limbs and heart), and morning-glory syndrome (abnormalities of the optic disc or blind spot), and Goldenhar syndrome, (malformation of the jaw, cheek and ear, usually on 1 side of the face).
From the email from the mom again:
How does Duane's Syndrome affect a person's life?

Ophthalmologists and the medical literature describe the condition as
being mild. Duane's Syndrome shouldn't stop a person from normal life
functions like driving a car or reading a book. Duane's Syndrome
shouldn't stop a person from seeing well. The severity of Duane's does vary
case by case. Some adults who grew up with Duane's report they barely
noticed it; others say they were self conscious about their appearance or
felt clumsy.

Most people with Duane's can use their eyes together well and see well.
They may though have a smaller area where their eyes work together
(binocular field of vision). Doctors believe that when people with Duane's
experience double vision their brains learn to suppress it.

The features of Duane's described above do not tend to change a lot
over time. So parents do not need to worry that their child's Duane's will
suddenly worsen. For example, if the child doesn't seem to have
retraction, they are not likely to suddenly develop it. However, some things
associated with Duane's, such as eye misalignment or head posturing,
may worsen over time and should be monitored.
Treatment: The pediatric opthamologist said we should start patching Madelaine's "good" (left) eye 1-2 hours a day to prevent the development of lazy eye in her right eye; he said she might or might not need surgery down the road, depending on how things develop. We have a return appointment scheduled in June.

When is surgery needed?

Most people with Duane's do not need surgery. Surgery is generally
indicated to correct misalignment of the eyes especially if this
misalignment is causing problems with head positioning. About 30 percent of
people with Duane's Syndrome adopt head posture (also called face turn or
head turn) in order to align their eyes to see straight ahead. People
using this posturing turn their heads to the left or to the right in order
to get single vision looking straight ahead. (Note: this is distinct
from something that many people with Duane's often do which is turning
the whole head to see objects located off to the far right or far
left). In many people the face turn is small and doesn't cause problems.

This posturing can be useful, so children shouldn't be discouraged from
using head posturing. Larger head turns can be a cosmetic problem and
could cause problems with the spine and neck if left untreated for many
years. In these cases surgery may be considered. Surgery that better
aligns the eyes in the straight ahead position can help eliminate the
need for the head turn. Surgery is also done sometimes in cases with very
large retraction of the eye or cosmetically undesirable upshoots or
downshoots.

Horizontal muscle procedures (such as medial rectus recession or
lateral rectus recession) are the procedures often performed. These
procedures are often done in cases of strabismus and are outpatient procedures
done under general anesthesia. In these procedures muscles are detached
from the eye covering and resewn in a different place to improve eye
alignment. In many cases the head posturing can be reduced or eliminated.

The vertical muscle transposition is a procedure that is done less
often, but does offer promise for some cases of Duane's. In this procedure
the vertical pulling muscles continue to function vertically but are
moved to also take over some of the function of the horizontal muscles
and may in some cases actually improve outward movement (adduction). This
procedure is not available in all areas and often needs to be followed
up by some horizontal muscle surgery.
So far, the patching is going pretty well. She hasn't seemed to fight against it as much as I expected she might, which is good, although today she was trying to rub the patched eye a lot, so not sure what that was about. I think there could be developmental issues, though- what's okay when you're 7 months can suddenly become Not Okay at month 13 or 18 or something- but for now we're doing all right. As for surgery, if she does need it it won't be for awhile. There's a surgeon in California named Dr. Rosenbaum who is supposedly the world expert... would insurance cover it...? We'll see.

Alright, I've been working on this post way too long (as always), so I'll post it.

Love, NEB

PS A very VERY happy 28th birthday to my amazing husband. Love you, sweetie. ;-)

Tuesday, March 04, 2008

You've got to be kidding me!!!

So today, after I posted the post below (yes, it's dated Feb. 17th, but I posted it TODAY, March 3rd), I logged into CNN.com and found this headline:

World's first six-legged octopus discovered


Henry the Hexapus

TOO CREEPY!!

Sunday, February 17, 2008

Not all octopuses know that children have 8 legs!!

The title is a quote from my sister-in-law! Yes, she is just that funny. (We were discussing the Distressing [distressing to me, anyway] fact that Madelaine's octopus board book only counts to the number 6...)

In no particular order:

*It took me a week to write the letter to Madelaine below. You may have noticed that it's dated the 7th, but wasn't published until the 14th. [Ed. note: it has taken me even longer to write this post here. Touche! [[What does "touche!" actually mean? I hear people say it all the time, but it's one of those words like "caveat" that, to me, just sounds impressive without actually having a definite meaning attached...]] ] It was a struggle all week to balance writing and doing the things I'm "supposed" to be doing with my time- dishes and laundry and paying bills and, of course, playing and taking care of the child who was the object of the story in the first place. This experience has made me realize that the thing I miss the most about my childless state (yes, even amidst all the joy, there are things to be missed) is the opportunity to wake up in the morning and drink some coffee and spend some absurd number of hours trying to write something perfect good. I love to Write. If I go too long without writing anything, I get antsy. For the record, I consider about 95% of what's on this blog to be complete drivel, and about 4% Good Writing, and 1% Really Good Writing. But that 1% is why I keep blogging.

I think Virginia Woolf once said something about "needing a room of one's own"...?

*The Amish! They are good with the baking, but maybe not so much with the math...? Suppose that a friend at church, a dear, head-covering-wearing, Mennonite-rooted friend gave you a Ziploc bag with an innocuously small lump of batter and some instructions on what to do with it. The instructions go something like this:

Day 1: Do nothing
Days 2-5: Mush the bag
Day 6: Add 1 cup each of flour, sugar, milk
Days 7-9: Mush the bag
Day 10: Add 1 1/2 cups each of flour, sugar, and milk. Scoop 1 cup of batter into each of 4 new Ziploc bags (these are new starters to give to your friends.) To the remaining batter add [a whole bunch of different ingredients.] Bake in two loaf pans.

What would you do? Would you bake with it? When I talked to Judy she was all like, "BEWARE THE AMISH FRIENDSHIP BREAD!! You'll end up going around the church parking lot and putting bags of starter into every unlocked car you can find!! You always end up throwing away a starter!!" And I was all like, "Nah, it can't be that bad- it looks like fun!"

So we dutifully "fed" our starter, and when the time came, Nate made the two loaves. They were tasty! And then we had 4 new starters. And... and then it was time to feed the four starters (we hadn't actually thought to give them away to people.) And I didn't want to feed all four starters, because that's a lot of flour and sugar and milk, and if we were going to keep all four then we would end up baking EIGHT loaves of bread in a few days and furthermore, we would have SIXTEEN new starters... So, we stuck two starters in the fridge, because Nate said that would just put them on hold (ie the yeast would just chill out for awhile and become active again later, or something.) So I fed the two starters. Then day 10 came last Wednesday. So I have the two starters, and I realize that if I feed them all the 1 1/2 cups of things, we'll have EIGHT new starters... which is still too many... so what to do?

[I ended up adding 1 1/2 cups of milk/sugar/flour to each one, and then from one bag I scooped out 2 cups of batter and threw it away, and made two new starters; from the other bag I just made 2 new starters, so that there were 2 extra cups of batter to work with, so I tried to estimate and adjust all the other ingredients accordingly.] But this isn't the point. The point is that...

1) We have a FREAKING LOT OF AMISH FRIENDSHIP BREAD. I don't think it will all get eaten. And 2) The Amish and their bread would be a lot more user-friendly if, instead of only offering a pro-multiplicative-reproduction instruction set, they also offered a more contemporary, population-control-friendly instruction set, with directions for how to END THE PROCESS, ALREADY. To wit**: give us ingredient lists for different numbers of starters that we want to make, ranging from 0 to 4. [Of course, the more mathematically competent among us, like my friend Judy, feel inclined to just MEASURE how much batter there is after scooping out the four new starters so as to calculate how to adjust the recipe to end the process.]

Are the Amish.... INSECURE about the status of starters in the world? I want to know. Perhaps I shall ask Wikipedia...

*So, a week or two ago I was browsing cnn.com and found a fluff piece linked from the December issue of O magazine (yeah, that's Oprah's magazine, which appears to mainly be about things like make-up and money management when I check its website. Hey, we can't all read Kafka all day. Cut me some slack.) The article was about "shortcuts to simplify your life," and along with the usual potpourri of random, marginally useful dicta guaranteed to make you happier and more successful and less afraid of clowns*** , I was surprised to read, "Build an Instant Home Library."

Huh?

The article suggests a few sites such as everymanslibrary.com that will sell you some inordinately large number of classics for an exorbitant amount of money; one example was the Penguin Classics Complete Collection, a voluminous body of 1,000 tomes for around $8,000. I have to ask- what kind of demographic does this appeal to? It's honestly rather hard for me to imagine that any true literary aficionado would enjoy receiving 1,000 titles at once. Can you imagine them arriving in the mail? Box after box of the world's literary treasures, all with identically designed covers, piled up in the hallway and waiting to be read. Wouldn't it be so... overwhelming? I feel tired just thinking about it. Personally I would much rather buy my books one at a time, as cheaply as possible (yes, you can get many used titles for under $8, even with shipping- including fantastic ex-library hardbacks!), in the order in which I'd like to read them. I also like my books to look DIFFERENT and UNIQUE, not like so many clones of each other.

After pondering for awhile, I finally figured out the type of people this offer would appeal to. Let me present them in the full glory of a mini-drama:

The Scene: Spencer and Bambi are moving into their brand new Supersized McMansion, complete with mile upon mile of built-in bookshelves in the "home library" [as distinct from the home office, the hobby room, the game room, and the media room.]

Bambi: "Ooh, honey. What ARE we going to put on all these shelves?? We only actually own 4 books, you know."
Spencer: "Well... how about my golf trophies?"
Bambi: "Well, sure, but those will only fill up one shelf. And then we have pictures of Buffy and Coco [their kids/ pets] that would look cute over here..."
Spencer: "Yeah- but we need a lot of those to go in the entrance hallway. Really, the only thing that's going to look right on these shelves is a lot of BOOKS."
Bambi: "Books are so hard to buy though. They're so heavy. Not like DVD's, you know. I mean, if I went to Barnes & Noble and filled up the back of the X5, it STILL wouldn't be enough to fill all these shelves. Plus we'd have to pay the movers extra to move them in!"
Spencer: "Hmmm. Hey, look at this- we can order 1,000 books at once and have them shipped directly here!"
Bambi: "Oooh- and they would all MATCH, too! I love it when things MATCH!"
Spencer: "And, who knows. Maybe it would help us... like, read more. As a family."
Bambi: "Yeah! Especially if the satellite dish ever goes out for a few minutes... we would need SOMEthing to do..."

Okay, finally FINALLY posting this thing...

:-D Love, NEB

**What does "to wit" actually mean? I have no idea. But it sounds cool. Thus, I am cool for using it, yes?
***This is a Significant Issue for Some People. Don't laugh.

Saturday, February 16, 2008

Some Observations

1) If you say to your friends at prayer meeting on a Sunday night, "We have been really blessed- Madelaine is six months old now and has never been sick," after hearing a prayer request that apparently most of the church is currently sick, then YES, you are asking for trouble.

2) Even if you follow up your statement by saying, "Wow, maybe I'm asking for trouble..." that will not cancel the fact that you are, indeed, asking for trouble. [She woke up coughing and sniffling Monday morning.]

3) Babies who have never had a cold before do not understand Proper Coughing Technique. Thus, they will frequently gag when they cough, leading to numerous vomiting episodes.

4) Babies who are sick like to nurse more. Preferably constantly.

5) 3) + 4) = More vomiting.

6) Since babies do not know how to properly deal with their Mucous*, what doesn't get thrown up must be processed by the stomach, but since they have immature digestive tracts, the stomach doesn't deal well with this, which leads to Even Runnier Than Usual Poop.

7) Runnier Poop means More Leaky Diapers.

8) We do not have a washer and dryer in our apartment. And although our child's wardrobe is extensive, it is, unfortunately, not Infinite. Nor is our collection of bedsheets. Or nursing bras.

9) 5) + 7) +8) = laundry crisis. I should have photographed Mount Laundry for you before we hauled it over to Judy's house yesterday. At least now we have clean baby clothes, sheets, mattress pad, etc. again. As for cleaning the car seat, the upholstered desk chair, the carpet, the carpet again, the bed skirt... well... Maybe we just won't think about it too much. It's too overwhelming.

10) We lost the bulb syringe (do you prefer the term "nasal aspirator"?) early in the week. We spent a really long time looking for it (not much else to do, cooped up in the house with a sick child.) It has not been found. Its replacement has been purchased from Stuff-Mart. [Those of you who are childless are now asking- what is a bulb syringe? Here, I will show you:]



You use this to suction out the baby's nose, because babies don't know how to blow their nose until... [when do kids learn to blow their nose, anyway...?] See 3) above.

11) It has been a challenging week. I feel sorry for my little chicken and hope she feels better soon. I feel sorry for Nate (who is also sniffling, and cleaning up vomit) and for myself (who has a sore throat, and is cleaning up vomit.) But I'm so thankful we live in a country with good healthcare and clean drinking water and plenty of food. :-) And hopefully, she'll be better soon!

Love,
Neb

Friday, February 15, 2008

Thursday, February 07, 2008

Six Months!













Dear Madelaine,

Tomorrow you will be six months old, and like probably every mother of every six-month-old out there, I look at you and wonder, Where has the time gone? I literally can't remember what life was like without you. I know that there was such a time- a time when it was just your daddy and me, living our child-free, care-free lives. But care-free means we didn't have you to care for and care about. And believe me, we had no idea what we were missing.



And even as I puzzle over where the time has gone, it seems so long ago that we brought you home from the hospital, scrawny and sleepy and ready to startle and flail at the slightest disruption. You were SO very tiny then, even smaller than most newborns, and it was such a relief when you really started nursing after a few days. For the first few months you seemed to grow at a nice steady pace, and then somehow, in the last couple of months, you've shot up like a little dandelion! Pretty soon you're going to be in size 9-12 month clothing, and as your baby wardrobe whizzes past, I'm making a mental note: next time I see a cute dress, buy it in size 3T: you'll get to wear it longer.


In every phase that you've gone through, I've wanted to sit here and write about your little quirks and habits, the nuanced details of your everyday life that only parents really get to see. Now at six months, I'm realizing that those very early days are already beginning to fade from my memory, and I question my decision to not keep an official baby book for you. Yet time spent blogging or writing in a baby book means less time playing and dancing and rejoicing with you, rejoicing in you. There's something to be said for abandoning the never-ending attempts to chronicle, analyze, and re-create life by writing about it. Sometimes you just have to stop writing about life, and Live it.


I remember in the first weeks of your life, that after nursing you would arch your back, your eyes closed and your face damp with the sweet sticky milk, and s-t-r-e-t-c-h your tiny arms and hands as far as possible. I kept trying to capture that pose in a picture, but I don't think we ever succeeded. You used to chew on your hand when you were hungry, and then I would have to persuade you that you couldn't chew on your hand and nurse at the same time. Any sudden noises would prompt you to throw your arms over your head- Daddy said it's a reflex that newborns have to protect their fragile heads from getting bumped. Don't worry, little one- we've got you tight.

From the very beginning, you loved to snuggle and be held, so I carried you in a sling all the time to keep you close by. You wouldn't sleep for very long anywhere other than my sling or our arms, until you were about four months, when I discovered that if I put you on your tummy to sleep (a BIG no-no in this decade), you could actually sleep for half an hour alone! Just in time, too- my back was really starting to hurt, and you didn't seem as comfortable in the sling anymore. At first I worried about SIDS, and would check on you every few minutes just to watch you breathe. Parenting is not a risk-free endeavor, I realized. Love never is. I'm much less concerned about SIDS now; but I still love to watch you sleep.

The first few weeks I was using my breastpump every day to make bottles for you at night, and I would put you in your swing while pumping. To keep you content I started singing hymns to you, and I really enjoyed the uncritical appreciation you showed for my voice- although I would suggest taking singing advice from your father. Hopefully this love of music will continue as you get older, and then we can talk about what kinds of music you like someday. Now you like to watch the visualizations on the computer while you listen to Classical with Daddy and Afro-Celtic jigs with Mama, and I like to watch your face while you watch and listen.

Speaking of your swing, for awhile it was one of your favorite activities, and you started this cute little habit of sticking your right foot out to tap the post with every swing. That, and kicking your "jingle bear" mobile, were two of the first things you did to start to interact more with your world.



Now the swing is too tame for you; it's all about the ExerSaucer, with its myriad toy possibilities. (Sadly, you can't reach most of them to put them in your mouth, so I have to give you your ring rattle to keep you appeased.) You can roll from your tummy to your back (once, and then not attempt any further movement) and sit up for several minutes at a time, which makes playing with your toys a whole lot easier. You have a great attention span for storybooks already, and I love to sit with you in the rocking chair in the afternoons and drink coffee and read to you. When we went to visit your grandparents at Christmas and in January, they enjoyed all your new skills and especially your wonderful little giggle.



In the last few weeks, we've noticed that you say something that sounds like "bless you" when you sneeze and that you (very courteously) hold onto both your feet when we change your diaper. When Daddy blows air onto your face, you stick out your tongue and gasp. You've switched from a pacifier to thumb-sucking in the past couple of months, and started this funny little habit of trying to stick your finger in your mouth while you nurse.


Ever since you've been born, Madelaine, I've noticed your tendency to almost hyperventilate with excitement when you play. It's as if the wonderful possibilities of life just can't unfold fast enough for you. Every day I love waking up with you and seeing your bright morning smile, the way you can't wait for a whole new day to begin. You are just about the only thing that can make even your Daddy smile in the mornings. And at naptime and nighttime when you grow sleepy and frustrated with your toys, I love scooping you up in my arms and saying "Let's snuggle and nurse to sleep in the Big Bed." I love seeing you learn and change every day, getting to know the great little person you are growing into. I can't wait to see what the next few months bring, as the world within your reach keeps expanding and you keep growing to keep up.

I could go on and on, darling, but I have to bring this to a close (before you turn 1!). Your babyhood is going by so fast, little love. Every day I think, "I want to hold this moment, this one right here, in my heart forever." When I was pregnant with you, I knew in my head how much I would love you, but I never could have dreamed what that love would feel like. I had no idea that there could be a love so big, so all-consuming and overpowering, that all the poopy diapers and fussy evenings in the world wouldn't even matter. There are days like today when I grow weary, when I don't know how to entertain you or deal with the everyday challenges of being a full-time mom. But even on days like today, I stop for a minute and look at your smile, look at the miracle God has given me, and I know I wouldn't trade this life, this calling to be your mommy, for anything in the world.

I love you, sweetheart. You will always be my little Chicken. ;-)

Love, Mama