Life, Undiagnosed (and how I've come to be ok with that)

I remember the first genetic test we ran.

Actually, rewind that.

I remember the phone call that led to the first genetic test we ran. We had met with a private feeding therapist because I could see that Maya would need help learning how to eat. A few days after the consult she called, and with a wavering voice full of apologies, told me something like “I really, really don’t want you to worry about this, but I know you will (she was a mom, too). I’ve spoken with a geneticist and we think that maybe you should meet with a doctor and get tested for Down syndrome.”

On the outside, there wasn’t much of a change. I was standing in the kitchen, with the phone in one hand and my 7 month old baby in the other . . . I leaned back against the counter and felt the color drain from my face. 

On the inside, I fell to my knees.

And my inner voice started to beg “No no no no no no. This can’t happen to her, this can’t happen to me. Let her not eat, let her not talk, let her mouth be jumbled and useless, but don’t let her have something big and genetic. Something that could affect her mind. Let her be smart. Let this test be negative. Please, please, just let this test be negative.”

And (a very painful month later) it was. 

But my (huge) sigh of relief was cut off mid-exhale as I realized that the geneticists weren’t washing their hands of us. The “come back in 6 months, just to check your progress” request whispered “You’re not done here, friend. Don’t celebrate just yet.”

And so it continued, appointments with a barrage of specialists, each doing their exams and tests. I couldn’t help but notice a gradual, but significant sliding shift in my perspective . . . while one part of me would enter a doctor’s office thinking “don’t find anything, don’t find anything” another part was thinking “give us some information, please”. As time went by it was undeniable that something was wrong different . . . it was time to find out what that something was.

More time passed. More normal tests. But clearly, our situation was not normal. 

My small spark of desire for a diagnosis started to flare up. I wanted a name. I wanted a prognosis. I wanted to be able to connect with other parents and plug into a support system. I wanted to hear from people with older kids and find out what their kids could and couldn’t do.

At naptime, I googled. I looked at syndrome descriptions, symptoms, prognoses. I became convinced that she had a dozen different conditions. I looked at pictures of diagnosed children and thought “those are her eyes! This must be the one!” My heart would pound and adrenaline would rush as I convinced myself I had found the answer, and then crash when I realized that a major symptom didn’t fit. Empty-handed, again. By the time she woke up I would be wiping away tears, again. Anxious. Searching. Desperate.

But at some point, I realized something.

Unless the diagnosis came with a crystal ball, it still wouldn’t answer the questions that raced around my head when she was asleep and the house was quiet and I had time to think. Somehow my obsessing over “The Diagnosis” had turned it into some kind of huge goal---if we could just get The Diagnosis, then we would know! We wouldn’t be in the dark! Our questions would be answered!

I had my mental list of questions-that-matter-the-most at the ready, just waiting for The Diagnosis to come along and predict our future.

• Will she walk and run? And jump? Will she be able to balance on one foot, or to go up and down stairs without assistance? (More specifically, will she move “typically” . . . or will she always have a unique way of moving that sets her apart from the other people on the sidewalk?)
• Will she talk? (Will she speak well enough someday that no one would know that she was so late to the speaking game?)
• Will she be smart? (Will she read and write and do math? Will she understand abstract ideas? Will she know what I mean when I say it’s her birthday?)
• Will she follow the path of a typical life, or will she be a dependent forever? (Will she go to college? Will she ever live alone, or is a group home situation in our future? Will she date, or get married? Will she be a mom someday?)
• Might she be exceptional? (Einstein didn’t talk until he was 4, I’ve heard. Give me a silver lining. Is it possible that while she’s trapped in this weak, disorganized body, her little brain is learning and growing and forming connections and will someday change the world?*)

A diagnosis would give me an answer, but not to these questions-that-matter-the-most. Most diagnoses come packed full of sentences that sound like this “Most children with xyz will learn to speak.” Or “Many children with abc suffer from cognitive impairment, which can range from mild to severe.”

It seemed likely that any diagnosis would come with a prognosis that was about as clear as mud.

And even if we got a diagnosis and a prognosis with some concrete won’ts (like “She probably won’t be able to walk independently”), odds are that I wouldn’t accept them anyway. I would keep believing and pushing, same as always. It would be impossible for me to give up on walking or talking when my girl has only had a few years to practice. Skills will come . . . or they won’t. Knowing The Diagnosis won’t change any of that.

So really, what’s the point in worrying about it?

Adding a few words to our chart won’t change anything (now. Believe me, I would still like to find a diagnosis before she turns 5, because it would make advocating for services much easier.  And it would be nice to know if we should expect any medical complications down the line).   But for now, she is who she is (hilarious, clever little thing) and we are doing the best job we can of helping her to grow and learn, just like every other parent on the planet.

A diagnosis would be nice, and we’ll keep our eyes out for one . . . but if it never turns up, well, I guess that would be ok, too.



(*This is the only question here that I for sure know the answer to. Is it possible that her little brain is learning and growing and forming connections and will someday change the world? Of course it is, silly. Anything is possible.)


 
  
My past thoughts on our undiagnosed life can be found here and here.
 


.

Maya had a little lamb, little lamb, little lamb . . . *

I was walking Maya (in the jogging stroller) and Parker down "Main St." the other day.  As a mom with a young (3 years old, maybe?) son walked by, I overheard this conversation:

Mom: Did you see that big dog?
Son: No, mom, that wasn't a dog.  It was a sheep!
Mom: Ah, I see.

I sympathize with that mom.  It's tough to explain that Parker isn't a sheep, he does look sheep-ish.

Sometimes Maya forgets he's a dog and thinks he's a pillow:

I'll give you a big kiss, my Parker

In other news, Maya's most recent genetic test came back today----negative.  It was a FISH test to look for mosaic down syndrome (again---but this one looked at over 400 cells in case she had a very low percentage of mosaicism).  Not one of the cells had an extra chromosome, making it very unlikely that the diagnosis would fit.  Back to square one.

Oh, and in other other news, our holiday card is almost done.  :)

What's in a name?

I used to think, not much.  But after a Special Needs School Fair last night, and a frustrating genetics appointment this morning, I'm finding that I'm starting to feel like a name is more important than I initially thought.  I'm speaking, of course, of a name for the source of Maya's delays.  A diagnosis.

Last night the school fair was bustling, overwhelming---a million booths, representing all of the schools that can accomodate students with different needs from preschools to high schools.   Dave entertained Maya (they came to make it more of a family trip and less of something-I-was-afraid-of) while I scoured the map of the event, cross referencing different needs each school could accomodate and the neighborhoods they were located in.  And then I went to booths and waited for my turn to talk to the representatives from the schools I was interested in.

And while I waited I heard snippets of conversations around me "My son has cerebral palsy and uses a wheelchair" "My daughter is deaf but uses signs", etc.  But when it was my turn, I didn't have the right words to use.  I hadn't thought far enough ahead, and when they asked about my child's special needs, all that I had were "can't's". 

"Oh, well, you know, we don't exactly know what she has . . . some genetic syndrome . . . we're not really sure . . . she can't talk, can't walk, can't stand alone, etc."

And everytime I said it, I felt worse and worse.  Who wants to be defined by their "can'ts"? 

I wouldn't want to walk into a group of new people, shake hands and say "Hi, I can't run, can't jog, can't do push ups, can't write without starting every other sentence with "and", and can't do mental math if the problem involves a lot of 7's.  Oh, and my name is Dana."

I used to think that a diagnosis wouldn't matter, because it wouldn't change who Maya is, and it wouldn't change our plan of action (re: therapies).  But now it would be kind of nice---nice to be able to say "She has Abc Syndrome" and then move on.  As we get ready to transition out of the Early Intervention program and into the CPSE (preschool) system, a diagnosis would make arguing for services easier, applying for programs easier, and it would help us maybe find other families who are in the same place that we are. 

At our genetics appointment this morning, another test came back negative.  The geneticist is leaning towards one diagnosis (which can't be tested for), I don't think it's a good fit and I'm leaning another way (also difficult to test for).  We may both be wrong, who knows.  More bloodwork was ordered, results to come back in a few months.

Until then, Maya remains the same animal-loving, silly girl.  She spotted this goat in a store window (yes, a real stuffed goat . . .only on Madison Avenue) and shrieked and pointed until I wheeled her over:

(You should've seen the tears as we wheeled away.  She's screaming hysterically, passersby are giving me looks, and I'm saying "It wasn't even a real goat!" over and over)

She really wants to be vertical all of a sudden, and is trying like crazy to get around (here, marching through the hospital hallway this morning with Dad)

And while her form is lacking, she's getting quick with the stroller----and SHE CAN STEER NOW!!!!!!!!!!  This is huge . . . it means that she can decide where she wants to go and actually make that happen :) 

Notice the proud-as-can-be smile at 0:08, and the steering work at 0:20

As always, if you see a blank square with a play button, click play and the video will appear . . .

Blood draw? No big deal.

We had another genetic test done today, this time at the Children's Hospital at Montefiore.  It will take several weeks for it to be processed through CHOP (Children's Hospital of Philadelphia, kind of the mecca for genetics stuff)  and I'm not overly concerned with what the results are----however it comes back won't really change our daily lives anyway.

The best part of the visit was the blood draw (I know, what?  Drawing blood from a 2 year old was the best part?!).  .  Dave decided to video tape it, not knowing how it would go, and it turned out that she didn't cry.  At all.  No, really.  It was amazing. She whimpered, her face crumpled---I whispered to her and Dave distracted and that was it.  See for yourself (and enjoy the captions):

Disclaimer #1:  If you only see a white square below, with a play button, click on the play button and the video will appear.

Disclaimer #2: Dave thinks he sounds totally ridiculous---I think he sounds like a great dad who's trying to distract his 2 year old during a blood draw.  So don't mock the voice :)

Well, this doesn't seem fair

I'm losing my hair.

Have you ever heard someone say something like "These kids are going to make me lose my hair"?  I always thought that it was just a crazy thing that old people say.  Like when someone says that if you sneeze with your eyes open your eyeballs will pop out (that's not true, right?  Anyone willing to test it out?).  But, in reality, it seems like Maya is making my hair fall out.

 In clumps. 

And now I have bald patches. 

And pictures to prove it.

Before we get to the pictures, let's take a moment to dwell on how much this sucks.  I don't want to lose my hair.  I don't want to have giant bald patches.  I had a full on panic attack (with tears and a hysterical can't-catch-your-breath-hiccupy-kind-of-conversation with my mom) yesterday afternoon about it.  This morning I went it to the dermatologist, who said that I have alopecia areata (fancy latin name for bald patches, caused by an autoimmune response in which my body is attacking the hair).  She injected me like a million times (ok, somewhere between 35-60---I lost count because she kept talking to me) with cortisone, which will make my body stop attacking the hair follicles so that new hair can grow in.

My googling tells me that this type of hair loss is often caused by a major stressor a few months prior, which totally makes sense to me.  A few months ago I was cycling through the stages of grief, coming to terms with the fact that Maya's disabilities may not be as short lived as I had hoped.  I was depressed, I was finding a support group, I was changing her therapists.  I was kind of a mess for a few hours everyday.

But how unfair is that----that you go through a traumatic time, and then a while later lose your hair?!  What the hell.  Seriously.

So hopefully I'm going through a big shed, and the hair will come back rapidly.  Dave asked me yesterday (mid-panic attack) if I'm stressed about things now, and through my tears I laughed and pointed at my head and said "Yes!  My hair!"

But I've got to at least put it out here.  I often things of the Indigo Girls saying "You have to laugh at yourself, because you'd cry your eyes out if you didn't."  And so, expect balding jokes, people.  And, if things get any worse, expect some unique fashion statements (would it be weird to glue a flower to the top of my head?  or color my patches with magic marker?).

And now, pictures:

A bald patch in the front, along the part:  (try to ignore the frames without pictures that adorn our bathroom)

The biggest and scariest patch.  I hate to even look at this.  Thank goodness I'm fairly tall and have enough hair to change my part around and cover it.

Luckily, I still have a lot of hair.  And with some part maneuvering, I can minimize damage. 

If this is the worst that it gets, it's not really a big deal and somewhat funny.  But I'm kind of stressed out about it getting worse.  Oh crap, I'm not supposed to get stressed, it makes my hair fall out. 

Oh, irony.

Speaking of irony, I used the new clippers to shave (or attempt to shave) Parker today.  35 minutes in, I'm sweating, he's panting, there's so much fur in my bathtub that it looks like I killed a sheep, and he still looks like this:

I think he's taunting me.

Let's do "Welcome to Holland"

When you become a parent of a special needs child, everyone talks about "Welcome to Holland". I assumed that everyone knew what it was (I read it many years before Maya), but when I mentioned it to Dave a few weeks ago he had never seen it. Here you go:

WELCOME TO HOLLAND

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

c1987 by Emily Perl Kingsley. All rights reserved

My two cents:

1. Good, right? My favorite part is the bit about other people going and coming from Italy. I love "Yes, that's where I was supposed to go. That's what I had planned." Yesterday a Facebook friend posted "*Name of child* just walked across the living room." Now, it's not that I want to go knock other people's kids down or anything, but . . . some days it's no sweat to toss out a "hooray!" . . . some days it would get a sigh and walking away from the computer. Some days a few tears. Luckily, those days are the least common. (And that doesn't mean that you should keep your kids' amazing things from me---please, let me know their newest tricks, I really do care and want to be a supportive friend/family member. It's just that sometimes they sting a little.)

2. Do you think that the nation of Holland collectively read this and said "Did this lady just call us slow?" Clearly, they're the "special" kid in this analogy. She calls them slower paced, and the best compliment she can offer is that they have windmills? Do you think that they're bothered that "Welcome to Holland" now is a euphemism for "Now that you're in the special needs world . . ."? I picture some happy couple, tulips on their table, wearing their wooden shoes, reading this in a newspaper when it first came out . . . nodding, nodding . . . and they they would look up and go "wait---what, now?"


Anyway, we have a lot going on over here. A few ideas in the works, but none ready for public discussion yet.

As a side note, Dave thinks more people should comment on the blog. He says that he likes to log in and view the comments, because he wonders who is out there. There must be a good handful of you readers, because the ticker keeps going up, up, up (and I think my mom only view the page like 27 times a day). So whenever you have the urge to comment, just got right ahead :)

The not knowing

I'm not sure how to even begin this without sounding ridiculous and self-indulgent. But I think I will, and if you feel your eyes starting to roll, then skip ahead to a post with pictures or something . . . I won't be offended. But sometimes I learn a lot from reading the blogs of people who are in tough situations, and maybe a look into my processing will help someone else. Or, maybe you're just nosy and like the voyeurism of reading someone's innermost struggles :)

Maya still has no diagnosis for the source of her global developmental delays . . . and I don't like the be dramatic, or feel sorry for myself. Those two things combined have left me in an interesting place over the last year-ish. I haven't had a mental framework for how to interpret her . . . will she grow up to be a "normal" kid with delays, who will just need a little time to catch up . . . maybe start school a year late, or not even that? Or will she be a kid who will need to ride a special bus, go to a special school, and need assistive living when she's older? And I know that everyone wonders what the future will hold for their child, but our situation is, well, a little different.

The not knowing is killer. I hate it. In the beginning, I would go into every dr's appointment (and there were a lot of them) with a swirly mixture of dread and nervous excitement----"Maybe this is when they'll figure out what is wrong----I don't want something big to be wrong----but if you can't tell me that everything is normal, and least tell me what the something wrong is----please don't give me more of the not knowing." But we just gathered more and more handfuls of the not knowing, as tests (cardiac tests, karyotype, genetic screening, MRI) came back normal. And each test that came back normal was rightfully a cause for big celebration (!!!) but a little, teeny tiny, grey voice deep in my head would say "oh, come on already."

I realized a week or so ago that I've been pinballing (that's when you shoot back and forth like the ball in a pinball machine) around through Kubler-Ross's stages of grief (even though I wouldn't necessarily call my thinking grieving, maybe it fits). In any given week, and sometimes on any given day, I would spend time in anger (at the world, at the system, at the doctors, sometimes at Maya), denial (she's just taking her time), depression ( ), and acceptance. And as quickly as I wrapped some sort of acceptance around me, it would slip away a little bit and denial would swoop back in. Although the ratios of time-spent-in-each-place have changed, I've been pinballing for a long time now.

Like 15 months.

At times I've wished for something with a name. At least "Down syndrome" would be a label that people could understand. It's hard to go to music class, or the pool, or anywhere where we often see the same groups of parents, and not have a way to clear the air. 12 and 13 month olds are running around the room in circles, and Maya (21 months) bounces in the middle and laughs, but she doesn't move (unless the door is left open, and then she crawls with lightening speed). I'm sure people wonder. But I have no words to break the ice with . . . at least no easy ones. And I'm not going to launch into a whole "Oh she has delays" speech. I just need a soundbite, something that shows that she's different, I know it, we're able to laugh at ourselves and take things in stride and with grace, and let's move on to chat about something more fun. I'm bite-less.

Anyway, I've realized that some people might feel like they've missed the announcement. Like, wait, I heard Maya is getting a trillion therapies a week---what's wrong with her? Did Dana ever tell you? But there's just been nothing to tell.

Suddenly, now, I can't do the pinballing. I'm so tired of it. So I'm owning the label "special needs" which I really didn't feel comfortable with until last week. I thought that label should be saved for kids who really had special needs, not silly Maya, and then Dave said "Um, she gets like 12 therapies a week, that's special needs". Yeah, I guess so----it doesn't bum me out, I just didn't want to take the label and use it in a "oh, so sad for me, my kid has special needs" kind of way.

So I'm boxing up as much denial as I can, and putting it on a high shelf somewhere, hopefully next to my box of not knowing. I know that I'll still end up looking through both of them from time to time, but they need to be further away. The ambiguity has got to go for now, I need to be in a making-peace-and-moving-on place. And I think I'm getting really close to there.

So the goal of all of this, besides clearing my own head, was to clear the air about where Maya is, and also to let people in a little. I tend to be fairly dry most of the time (in case you haven't noticed), but maybe it's helpful to come clean once in a while.

Results in!

Surprise! The results came in already, and everything is totally normal---no brain abnormalities!

Hooray :) And Happy Thanksgiving :)

MRI Done

Thanks for all of the thoughts, prayers, and well wishes. The MRI is done, the stuffing is in the oven, and we're looking forward to Thanksgiving :)

We got to the hospital a little before 7:30am, and Maya (who had not eaten or drank since 7:30pm last night) was miraculously not cranky. Dave played with her while I filled out paperwork and then we broke out his laptop and played "Signing Times" (her sign language dvd). She watched it until it was time to go in. Dave took her back while they put her under, and then we went downstairs and read in the cafe for a bit. 40 minutes later we went upstairs just as she was waking up. She whined/cried a little, but was mostly just tired. Drank a bottle, filled out another form, and we were on our way home (a little after 10).

She's been fine, slightly sleepy but really no big deal. The nurses commented that she was very easy---some kids really scream I guess.

So that's it---I'm not expecting to hear anything from the doctor before next week.

MRI tomorrow

I know, I need to update more. Having said that . . . (that's a nod to this week's Curb Your Enthusiasm, if you watched it)

Tomorrow Maya has an MRI in the city in the morning. It's scheduled for 8:30am, requires an hour or two of sedation (with no eating/drinking beforehand, sigh), and is a little stressful. If you remember back to her adenoid surgery, coming out of the anesthesia was rough . . . we're hoping that things will be easier this time around.

Keep us in your thoughts tomorrow. I'll update when we're home.

Test results are in

We got the results to Maya's microarray yesterday (a few weeks earlier than planned) and they were totally normal!

The microarray is a genetic test that analyzes the chromosomes to see if any sections are missing (deletions) or repeated (duplications). Microdeletions and duplications can cause many, many different genetic syndromes or disorders, so it's great to hear that everything was normal!

Dave and I were pretty surprised that nothing turned up, since this test casts a wide net looking for issues, and we are happily celebrating the good news.

Please resist the urge to ask "What now?" Within the past yearish, we've gone through so many tests and challenges that it's just nice to dwell in good news, rather than already start looking ahead to which tests could come next.

Now we're just planning to focus on working towards goals (our current goal is pulling up to stand) and pushing her development as best as we can.

I'm sadly looking at my last week working at KIPP (only 3 days left). This week summer school ends, we're looking forward to a vacation in August, and then I'll be working with Maya at home (and working from home as well).

Recent Happenings

Lots of exciting stuff going on with us. Maya outgrew her bathtub:

Guys? Really? This is ridiculous.

I've been gardening. These pics were taken 2ish weeks ago, the plants are way bigger now and yesterday we got our first red tomato!!!

Oodles of basil plants, inside & outside:

Habanero & Jalapeno peppers---they're being attacked by aphids, so I don't know if we'll get any peppers:

Lettuces & Spinach:

Windowsill herb garden:

Tomato plant:

First basil harvest:


Mommy & Maya went to KIPP's 8th grade advancement ceremony:

Maya did a Father's Day craft:

We read books:

And go back to doctor's appointments:

(Maya is having a genetic test called a microarray done. The geneticists still feel like some genetic issue has caused Maya's delays and the test will search for microdeletions or duplications which could have caused a syndrome. Results due in 2ish months.)

We celebrated the 4th of July with a yummy cookout in NJ:

Where Maya enjoyed watermelon and chocolate:

We are getting ready to have a big change in September. For the first time in 8 years, I'm not going to be returning to the classroom. I have super mixed feelings about it, but we've decided that it would be best if I'm home with Maya. It will make it easier to schedule appointments and therapies, and give me more hands-on time to work with her. At the same time, I'm going to miss my KIPP family, and hopefully Maya and I will visit all the time.

I'm not going to take the year off entirely, instead I'm going to be working from home with a grad school that's affiliated with KIPP and TFA, among other schools. I'll be helping to evaluate first year teachers via videos, which is web-based and can be done any time, day or night. So I needed to create a home office, and Dave and I bought a desk at IKEA. Now, I love putting crap together (Really. It's very satisfying to build stuff.) . . . but this was intense! It came in 2 boxes that looked like this:

It had this many parts:

After a few hours of work it looked like this:


Finally, all done:



It's normal to have left over parts, right?




We're rearranging our 3rd bedroom to make it more workable with the new desk, and we're back to work (for summer school, which I'm working at but not teaching) tomorrow!

I should start with something positive . . . we had a fantastic break. We swam, went to the zoo, went to parks, played, etc. Lots of family fun time. All of the doctors were on vacation, which ended up forcing us to have a week without doctors . . . it was annoying not to get anything done while we were off from work, but ended up being lovely. It often strikes me as very sad that we are spending so much of Maya's babyhood driving to every doctor under the sun.

That said, today the doctors were back and so were we. Dave took the day off from work (thanks to the other KIPP teachers who make this possible!) to come with us to the ENT and the neurologist.


1. The ENT checked out Maya and saw that her adenoids were still enlarged. We're going to go ahead with surgery next Thursday, April 30th (her 11 month birthday!) to remove them. It's really hard to decide whether someone else (who can't speak) should have an operation. But we have hopes that she will be able to breathe easier, and that she may progress faster towards eating with the extra breathing space. Currently, her adenoids are obstructing about 70% of the speace that she breathes through, which is a lot. That said, it will obviously be sad and scary to send her into surgery :(

This is what they should look like, if they weren't swollen:



2. Neurologist: The neurologist and his partner were really, really nice. That said, it was stupid to go see them. I had made this appointment by accident (I was supposed to find a developmental pediatrician, not a pediatric neurologist) a few months ago, and decided to keep it because . . . why not? Maybe they would just clear her neurologically and that would be one less thing to worry about? Turns out not so much.

If you went to a proctologist and complained that every time you ate, your stomach hurt, you'd expect them to go in (yikes!) for a look, no? Because looking up people's rear end is what they do. Well, if you take a baby to a neurologist because she doesn't eat and has developmental delays, they want to take a look at her brain. Because looking at brains is what they do. But hearing 2 medical folks suggest a brain MRI (which requires 45 minutes of sedation) after you've just barely wrapped your head around 30 minutes of sedation and surgery next week . . . well, it's not a fun afternoon.

We decided not to do it----there's really no reason to at this time. If some other doctor had suggested seeing a neurologist, we'd follow through, but since I just brought us in there, no. If her therapies don't help, and her 1 year follow-up genetic testing doesn't show anything, and we're still at a stand-still in a few months, maybe then we'll go for tests. But now it seems excessive. And we're so tired of tests and evaluations.

Any specialist that you go to will want to run their specialty's barrage of tests. I was an idiot for not seeing that one coming.

And Maya? Happy as a clam. Giggled like a loon when the neurologist tickled her :)

The highlight of the day ----getting asked our #1 favorite question. The geneticist asked us a while back, and the neurologist asked us again today, as part of their standard questions to Dave and I : "Do you guys have any health problems? Any family history of genetic issues? . . . and, Are you two related?" Fantastic.

Maya's swallow study, in the comfort of your home

Ever sit around, wishing that you would get to go to a swallow study? Well, thanks to Dave's quick thinking (with our digital camera) and the magic of youtube, you can attend one right now! These 4 quick videos will show you the whole thing, from beginning to end. Plus, if you're into sciency stuff, they're pretty cool.

(The results, by the way, were totally normal :) No problems with choking or aspirating her food.)

(Oh, and her pediatrician appointment Thursday went well, too. She's 20 lbs now! She went from the 25th percentile in weight to above the 50th percentile, which is quite impressive considering that she won't eat!)

Here, Dana's in the pink lead gown, along with the speech pathologist (behind the little stand thing) and a doctor (who is in the red lead gown). Dave was in the viewing booth with the technician who was snapping the pictures. The screen that Dave zooms up to at the end is where he video'd the rest of the images.



In video #2, you are looking through Maya's head, shot from her left side. So her mouth is towards the left side of your screen, with the back of her skull and esophagus to the right. For the beginning part of the video she is using her tongue to push around a tiny spoonful of peas that have some barium stuff mixed in to make them visible. Then she swallows (at about 9 seconds) and you can see the little bit go down her esophagus.



In #3, to the left, you're watching her lower jaw move up and down as she drinks from the bottle. On the right side, you periodically see the barium-laced milk go quickly down her esophagus as she swallows.



More of the same, with a little bit of hungry Maya crying in the background, and more bottle-drinking near the end.

Doctors' Updates

Medical update:

1. Developmental Pediatrician: Answered a million questions (does she clap? does she transfer objects? has she ever gotten mad and given you the finger?), brief physical. It seems like most of her skills are around a 6 month level (instead of 9.5). Exceptions: she has good fine motor finger skills, she's very social, and very focused on whatever she's currently paying attention to.

Downside: When discussing Maya's genetic testing to rule out Mosaic Down Syndrome (which came back negative), the dr. pointed out that we have to go back to the genetics team when Maya is one. If she still is experiencing developmental delays then (which is likely) it will mean more specific genetic testing to rule out more syndromes. We were kind of hoping the genetic stuff was done, so it's a bit disappointing to know that we probably have more on the horizon. Doesn't exactly put your mind at ease. But some of her unique physical features (combined with developmental delays) could be indicative of a problem (or could be indicative of nothing). Who knows.

2. ENT: We have the best pediatric ENT ever. Seriously---if you need one in Manhattan, go see Dr. Jay Dolitsky. He's the best. Since her ear infection cleared with the antibiotics, her adenoids are much less swollen (65% instead of 80%). Her nasal passages are less swollen since we've started to manage her allergies. There's a possibility that she has silent reflux, since she has slight redness at the base of her esophagus & reflux can also cause the adenoids to swell.

So we've tentatively scheduled adenoid removal for the end of April, but in the meantime we're going to do a trial of reflux meds. The week prior to the surgery date he'll check her adenoids again . . . if they've become smaller (from the reflux meds) then we'll cancel the surgery . . . if not, they'll come out.


And that, my friends, is the end of the medical update until Weds, when we'll have the physiatry eval and the feeding eval :)

Maya's Medical Summary & Upcoming Appointments

Background
Maya's been having a bunch of health issues, which people know about to varying degrees . . . this isn't because we're trying to keep things secretive, but because there's so much going on that it's hard to remember who I've told what to, and who has time to send a million emails about stuff?

So here's the summary thus far:

-She's super allergic to cats. So Layla, my lovely cat who's been my faithful companion for the past 7 years, had to go :( My sister took her in and she now lives with a dog and 2 other cats (one of which could be her stunt double).

Mom! What the hell?! Are you trying to kill me?!

Layla and her new buddy, Tucker

-Her adenoids and tonsils are way too big. They are probably going to have to come out sometime soon.

-She's behind on most of her milestones (sitting up, rolling around, etc). She'll probably have some type(s) of therapy starting with in the next month 1 or more times a week. It will be great for her to have someone come and work with her, but it means that I have appointments for 5 different evaluations in the next 2 weeks (along with already scheduled ENT & allergist appointments).

-And she still doesn't really eat. But we now think that some of that is probably due to the adenoid issue, so hopefully we'll be able to move ahead with fixing the feeding stuff soon.

Upcoming Appointments
-Monday, 3/16: Developmental pediatrician evaluation & ENT
-Weds, 3/18: Physiatry evaluation & Feeding evaluation
-Mon, 3/23: Allergist
-Weds, 3/25: PT Evaluation & OT Evaluation

(For the next two weeks I'll be working on T, Th, & F to get these appointments in)

My thoughts

So it's going to be a pain to get around to all of these assessments and what not, but right now I don't feel like any of this is so terrible. She'll need a lot of practice (therapy) before she eats. She'll need a lot of practice (other therapies) to push her physical development. But she's pretty much the happiest baby around :) She's gone swimming now. She laughs a lot, which is pretty freaking cute.

Hello Toes!

Hopefully a month or two from now we'll be appointment free (other than adenoid surgery and PT/OT) and in a more reasonable pattern.


The End

So I'll try to keep this updated after appointments, and with other fun things in general. PLEASE COME HERE to get the information straight from the queen's mouth (I was going to say straight from the horse's mouth, but honestly, that clearly doesn't work here). The more that news is passed from person to person to person the more overdramatized it tends to become.

Sorry

Hello again. Have you ever put something off for a day or seven . . . then felt bad that you haven't already done whatever task it is, so you avoid it for a few more days . . . then you feel even worse for procrastinating . . . so you try to put it completely out of your head for, oh, say 2 months? That's what happened with the blog. Sorry about that.

In the past two months we've been busy. Actually, in the past week alone we've been busy. We've officially had the worst break ever (we were off this week) . . . but it seems silly to start there. So here are a few things before we get to this week:

1. Christmas was really fun. Maya got a bunch of toys :) Good times in NJ.

2. Maya's not eating, or doing a lot of the things that she "should" be doing (sitting up for extended periods without help, banging things together, etc). So we've been going through a whirlwind of different specialist visits, trying to get to the bottom of it all.

3. Because of the delays, sticking her little tongue out, and her small eyes we ended up going for genetic testing to rule out a "lesser" form of Down Syndrome (it's hard to explain---called Mosaic Down Syndrome). Thankfully, the test came back negative . . .but it was a tough 3 weeks.  I think I grew a lot as a person while waiting for the results.

Ok, now I've broken back into the blog world. Here are 2 pics from Christmas. I'll try to update about our totally awesome break later tonight or tomorrow: