We've got some medical news (The conclusion)

This post is a continuation of yesterday's post.

So, picking up where we left off:  Six months ago I received a Facebook message from a blog reader which, after a few exchanges, put me in contact with a group called Rare Genomics Institute (more on them later).  They wanted to know if we would be interested in having Maya’s DNA sequenced.  I rolled the information around in my head for a few days before agreeing to the first phone call to discuss it all.

I was interested, but cautiously---DNA sequencing is the next (and maybe final?) frontier of rare disease diagnosis, but is pretty novel, and therefore comes with some uncertainty.  It’s also not yet clinically available . . . meaning that we can’t just go to a doctor and ask them to order the test, we would have to be part of a research trial (which than raises some privacy questions).   There were a lot of questions, phone calls, and emails.  We learned a lot, and our concerns were laid to rest.  We decided to move ahead with figuring out whether we were a match for the research.

Over the next few months, I compiled medical records.  I called hospitals and doctor’s offices, signed releases, and charts began to arrive.  I read the files, kind of awestruck by the sheer number of appointments that we’ve had, many of which I have little to no memory of.   I typed up a summary packet of findings, test results, in-office notations, anything that might be a clue.  I traded emails with my contact at RGI, and later with the doctor that we would (hopefully) be seeing at Yale.  He agreed that we were an interesting case (um . . . thanks?).  And that’s what brought us to Yale last week.

At Yale, we met with Dr. Yale (ok, that might be a fake name), who went over my medical summary packet and talked with us (for nearly 2 hours).  The good news was that he didn’t have any guesses as to what syndrome Maya has.  (Yeah, you read that right.  I hate new syndrome guesses—they stress me out and lead me to google the syndrome and read everything about it, then I cry, then I toughen up and accept it, and then 4-6 weeks later we find out that’s not what she has anyway.  Exhausting.)  We were in the exam room for nearly 2 hours, Maya circling around the room, pulling toys out of my giant toy bag and scattering them.  Dave and I delivered another brilliant tag-team performance, alternating as one of us spoke with the doctor and the other entertained increasingly restless Maya. She wanted to be put on the exam table, then she wanted stickers, then she wanted to rip the paper on the table to shreds, then she wanted to get down, then she was throwing blocks.  She kept sneaking behind the doctor’s chair to bangbangbang on the computer keyboard that was right at eye level.  She was a little tornado, first cycling slowly but then with growing ferocity (and noise) as the appointment went from kind of long to long to too long.  In the end, Dr. Yale thought that Maya was a perfect candidate for exome sequencing.  

An aside on DNA/genome/exome sequencing: 
Your DNA is made up of 6 billion base pairs.  Current clinical genetic testing only looks at a very small portion of the DNA.  Whole genome sequencing would look at basically the entire DNA of an individual, but is extremely expensive (although prices are rapidly dropping) and time consuming.  Exome sequencing involves sequencing only the protein-coding sections (exons) of the DNA.  These exons make up only 1% of the total DNA, but are believed to be responsible for about 85% of disease-causing mutations.

All people have genetic mutations, and most of these mutations are completely harmless.  Because of these harmeless mutations, exome sequencing will turn up over many, many mutations, and scientists will have to work to figure out which ones are meaningless and which ones are possible candidates for causing Maya’s syndrome.  They will need Dave & I to have our exons sequenced as well, so that they can compare her mutations to ours (ex. If Maya has a specific mutation and I have an identical one, it would be unlikely that that mutation is the source of her issues).



So, while at Yale we all had our blood drawn, the samples have been received and are in good shape, and now we wait.  

This is the tricky part.

Someday, exome sequencing (and, likely, genome sequencing) will be routine tests that are available through a geneticist, covered by insurance, just like our microarray and karyotype were.  Both types of sequencing have dramatically dropped in price, and the ongoing research efforts will hopefully demonstrate the necessity of making sequencing routinely available to insurance companies.  However, it will likely be another few years (2? 5? 10?  I've heard different guesses from different doctors) before that happens.  With the help of RGI, we were able to find a doctor and a lab that can sequence our exomes, but there is no grant money that will cover our sequencing, because Maya's uniqueness isn't a perfect match for any of the ongoing funded studies with new patient slots available.   

Bottom line: We have to raise the money to pay for the exome sequencing ourselves.

Dave and I are glad to have partnered with Rare Genomics Institute (RGI) in our quest to find a diagnosis.  They are passionate about helping families with undiagnosed children attain DNA sequencing, and they were able to help us with some of the biggest challenges of the procees: screening to make sure we were good candidates, matching us with the doctor and the laboratory at Yale, and helping us to get the appointment (and to get it pushed up a few months).   And now they have built a fundraising platform for Maya (and, thus far, two other children who are in the same situation).   Their idea is this: rather than having a family try to directly fund DNA sequencing (as families of kids with special needs are typically bleeding money to private therapies, uncovered medical bills, devices, etc) a crowd funding platform is set up.  It allows many people to make small donations that will add up to fund the project. 

We need to raise $2,500 for the exome sequencing (genome sequencing would have been six times that amount).   RGI has set up a fundraising page for Maya, and she has already received some donations from within the scientific community (aka generous strangers who are interested in supporting genetic research).   When the fundraising is complete, the sequencing will begin.  From there, it will likely be a minimum of six months before we hear about any potential findings. 


We’re (cautiously) hopeful that this will be the beginning of the end.



A few notes:

• If you choose to donate to Maya’s fundraising page, we thank you sincerely.   You should know that all donations are tax-deductible and go directly to the funding of Maya’s sequencing project.  The money will go to Maya’s fund at RGI, then will transfer directly from RGI to Yale.  When the money has been received and confirmed by Yale, our sequencing will commence.
• You may notice that we only need to raise $2,500, while the other children on the site are raising $7,500.  This is due to the difference in prices at the hospitals that they are using.  We are the first patients to go through Yale with RGI, and the costs associated with the Yale lab are significantly less than many other hospitals.
• If you have a child who is undiagnosed and are interested in finding out whether RGI could help you with genetic sequencing, the best way to contact them is through the contact form on their website, here. 

  

We've got some medical news (Part 1)

I’ve been keeping a secret. 

Back in July I received a Facebook message from a blog reader that set us on an interesting path, one that has the potential to lead to a diagnosis for Maya.   I’ve been keeping it under wraps over the past few months, because we had a lot of learning, research, records gathering, conference calls, and appointments to get through before we could even decide whether we were a good fit for this project, and whether we were going to proceed.

Now we’re ready to proceed.  So it’s time to explain it all.

As many of you know, we’ve spent a significant amount of time over the past few years (since January 2009, to be precise) searching for the source of Maya’s delays/challenges/ uniqueness/abnormalities.   The doctors all agree, “something genetic” is at play here, but no one can put their finger on to what that something is.  It’s been a long, tumultuous, exhausting road.  She’s been through a variety of diagnostic tests and procedures, including: karyotype (normal), microarray (normal), FISH (normal), UBE3A sequencing (normal), brain MRI (normal), swallow study (normalish), ABRs—that’s plural (normal, then abnormal), behavioral hearing analyses-plural (normalish, normalish, normalish, normalish), EKGs-plural (mostly normal), echocardiograms-plural (normal).   And those are just the medical tests that I can remember.  Add in the countless appointments, the surgeries, the sheer number of doctors (we send holiday cards to all of them, and they take up a whole section of my address book) and, well, it’s a little overwhelming.

Maya is smart and funny.  She is learning and growing and making steady progress, she loves school, she’s walking and making measurable gains towards talking, and overall, she’s a little delight.  So, why keep searching for a diagnosis?  Why bother?  Why not just accept that things are unknown and move on?

Good question.

Part of me that has fallen in love with being undiagnosed.  I love that doctors can’t make assumptions about Maya’s skills or limitations, because no one can presume to know what they are.  No one can think “Well, the other kids that I’ve seen with this syndrome don’t talk, so she probably won’t either” or “Kids with this syndrome generally need to stay in specialized schools” or whatever.  There’s a smugness that comes with walking into a new doctor’s office and knowing that they will be forced to listen to me just a little bit more closely, because thus far I’m the authority on the Syndrome of Maya.  But there’s a flipside, too.

The flipside is that I feel a little ridiculous when I’m asked for her diagnosis and have to say “unknown genetic syndrome.”  And you’d be surprised how often I have to say it.  School paperwork, insurance phone calls, doctor’s appointments, signing up for special needs events, introducing myself to other special needs parents.  At the playground.  In the diner.  One time a older woman was so taken aback after I said “unknown genetic syndrome” that she actually paused and then sputtered “Oh . . . well, um, have you taken her . . . I mean . . . which doctors have you taken her to?”  (Like I was going to run off our list of doctors to a stranger at the diner.)  People just don’t understand how, in New York City, with doctors and hospitals generously sprinkled everywhere, a child can be diagnosis-less.  A mystery.

And being undiagnosed comes with complications and issues more significant that just my feelings of sheepishness.  When I file claims with our insurance company, the generally meaningless diagnosis of “global developmental delays” doesn’t get us very far.  GDD can describe a child with a small vocabulary or with no words, a child who was a late walker or who was a very late walker or who still doesn’t walk.  It’s too broad, too nondescriptive.  To the insurance company, it’s kind of useless—a catch all for kids who don’t seem to have real medical issues.  It doesn’t paint our picture.  Insurance denials arrive in the mail by the bucketful. 

On a similar bureaucratic note, when Maya turns five we will enter a new chapter in the school system (right now we’re in the preschool system, but turning five transitions us to the big league).  By the time she turns five, we will struggle to find the best school placement for her, and fight to ensure that she is granted the therapies and services that will assist her in school.  Can we get these services without a clear, medical diagnosis?  Yes, in theory.  Is it more difficult?  Oh yes.  Yes, it is.

Finally, but most importantly, there’s the most compelling reason to find a diagnosis.  Undiagnosed life . . . well, it can be dangerous.  Some syndromes come with complications that develop over time . . . seizures that don’t start until puberty, degenerative hearing or vision loss, chemical imbalances.  It would be helpful to know if that stuff is on the horizon.  Also, there are syndromes that are now treated with preventative medications, vitamin therapies, and all sorts of ways to be proactive . . . if you know the diagnosis.  If you know what you’re up against. 

And so, we kept searching, periodically.  Taking breaks, but returning to Google and online forums and genetic websites.  Talking to other families, talking to doctors, keeping an eye out.

That brings us to this summer.


To be continued . . . the second half will come tomorrow. 
Added: I'm not trying to make a cliffhanger here, the story is just too long for one post. 


 

The week that nightmares are made of

Last night I had nightmares.  Nightmare(s)-plural.  All of them directly correlate to stressful events on the horizon (well, honestly, one might have been related to the Dexter episode that I watched right before going to bed). But mostly they are due to the week ahead.

The week's itinerary

Today: Most of the day was spent trying to clean and restore order, which is apparently unmaintainable when we have a week of vacation.  This afternoon Maya got two fingers caught in the elevator door (to be fair, this wasn't a planned event, but it caused an hour of chaos, nonetheless).  Then came the return of our EI speech therapist (who we will be seeing once a week---very exciting---and I'll have to write about the re-balancing sometime soon). 

Tomorrow: More organizing (yeah, we're that messy), cleaning out old toys & clothes, donation trip to Goodwill, then draggin the Christmas stuff out of storage.  Also, trying to plan this year's holiday card.  (Yeesh--I wish last year's hadn't been so good.  I feel like the bar is set kind of high.)  Support group meeting in the evening (had to skip last time, can't do it again).

Wednesday: Dave &Maya are playing hooky so that we can go to Yale to meet with a new geneticist.  All new appointments are unsettling, but new geneticists are the worst.  At this point, the thought of them finding a diagnosis is more scary to me than the not knowing.  This trip has the potential to link us to a interesting team . . . but I'm getting ahead of myself.  We'll have to wait and see.  But I'm feeling nervous.  (Also, bailed on book club, because it's just not going to happen after we arrive back, physically and emotionall wiped out, from CT)

Thursday:  I start my new job.  In the future, most of my working hours will be logged from home, but I need to be in the office a bit this week and next week to train on the system I'll be using.  (It's academic work for a grad school, drawing on my teaching experience.)  I haven't started a new job in 8 years.  And I'm not really a people person.  So, a little nervous.  (Also, bailed on "Parent's Night Out" with the folks from Maya's class this evening, because I will be beyond frazzled.)

Friday: Maya's asstistive tech re-evaluation at school.  Ugh.  She's had the TechSpeak at school for a month, and is doing well with it.  Now the DOE people will decide whether she should stick with that, or get a Dynvaox Maestro (which seems to be their high tech device of choice).  I don't even know what I want to happen here . . .

• if they want her to stick with the low tech device, she will outgrow it sometime soon. She already has to supplement heavily with the Word Book, because the Tech Speak just can't hold all of her words. However, at least it's familiar to her right now.
• if they give her a Maestro, then she loses what she's currently using (and is used to).  Also, now that I've met with the Dynavox and PRC people, I want to trial each one of their devices and figure out which is the best fit for Maya.  What if they give her a Maestro and a month from now (when I get around to training and trialing) I can see that they Vantage Lite is a better fit?  We can't keep switching systems on her, it's not fair.  (sigh)

So, that's the week.

In other, more interesting, news:

• Last week's Thanksgiving post quickly becamse my fastest shared post ever (surpassing Amsterdam International with over 470 Facebook shares in less than a week).  It also generated the most page views that I've ever had in a day (2,051).  Pretty cool.
• If you missed it over the weekend, check out the post from Sunday, in which you can see how Maya uses the Word Book.  If you're trying something similar at home, make sure to read the comments---there are a few good ideas there.  (And if you have any ideas to share, don't be shy.)
• Go check out the 2011 Holiday Toy Guide for Kids with Special Needs, put together by Ellen over at Love That Max.  It's full of great ideas!  Plus, if you scroll about halfway down, you'll see a familiar face!  Hint: It's Maya :)

* I had to write this twice, because the internet ate it the first time around.  This draft is much more choppy and fragment filled, but it kind of matches my mental state anyway, so it's staying as is. 

He's just not that into us (doctor style)

Our genetics appointment last week came and went without much fanfare.  It was the same type of appointment that we’ve had a bunch of times now.

Part 1:  We meet with the assistant doctor (and med student/s, usually).  Update them on the past 6 months worth of appointments, discoveries, progress, etc.  Brief physical exam.  I present the new syndrome that I’m eyeing, my reasons for suspecting it, and the test that I think we should do.   (I feel like I'm pleading my case to a judge and resist the urge to take a bow when I'm through stating my case.)  Maya wanders around the room, investigating, searching for things to open/close/rip/crumple/make a mess of.

Part 2: The doctors tell me that she doesn’t seem like a typical kid with Xyz syndrome.  She’s too tall or too short, too nonverbal or making too much effort to become verbal, too high functioning (hey, that one was at least nice to hear), too stable on her feet (really?  Really?) or whatever.  I counter with “Yes, but I read that 10% of kids with xyz are able to walk independently, or that 80% don’t have cardiac involvement”, or whatever.

I resist the urge to throw up my hands and says “Obviously she’s not a typical kid with any syndrome . . . otherwise we would already have a diagnosis.  She’s an outlier.  Join me in thinking outside the box, won’t you?”

Part 3: “Ok, Mom, let me just go and consult with Dr. Hesincharge and we’ll come back to talk with you in a few minutes.”  Door closes, Maya wonders what’s going on here.  We play, and possibly probably shred the paper covering on the exam table.

Part 4: Dr. Hesincharge enters and reaffirms that Xyz probably isn’t a match, but we’ll run the test just to “cross our t’s and dot our i’s”.  I am happy that we’ll run the test, just to check.  Then he says  “So, after this test, there’s really not much that we can do here.” 

I deflate a little, and the deflation surprises me.  

Did he just break up with us? 

Dr. H:  It’s not you, it’s me.  There’s just nothing else that I can bring to the table here.

Me:  Uhhhh.   You’re, like, the doctor.  We need the doctor.  You’re supposed to diagnose things.  You can’t just quit on us.  Shouldn’t you be trying to piece clues together and read research papers and solve our mystery?

Dr. H:  All of the broad screening tests have been run.  I’ve done fancy test #1, fancy test #2 and even fancy test #3!  Then you wanted me to do test #4---even though I didn’t think she had Abc syndrome, so I did.  And now you want a test for Xyz, so I’ll order that too.  But there are, like, a LOT of other letters.  Clearly we can’t test for all of them.  And I could make you keep coming back once a year for physical exams, but I’ll be honest, I just have no clue.   So really, why keep up the charade that I’m actually providing any diagnostic care?

Me:  Ummmm.  This relationship really can’t be that draining for you.  Remember, I’m the one doing the legwork and the research?  But you have the fancy bloodwork forms, and the lab, and the hospital.  I can’t order the tests without you, man.  Don’t give up on us.  In a few months, I’ll start to wonder again.  And I’ll start to google.  And I’ll need your hospital lab and your bloodwork pad again.

Dr. H:  (Sigh).  Well, ok.  I guess if you need me, you have my email.

Me:  Thank you.  That wasn't so hard, was it?  And by the way, doctors shouldn't break up with patients.  Talk about literally adding insult to injury.  Sheesh.

That may be a dramatic elaboration, but the vibes in the room were similar.  “There’s really nothing else we can do here” is the doctoral equivalent of “It’s not me, it’s you”, I think.  (Although clearly, it’s not us, it’s him.) 

And I thought I really liked this doctor, too.  He seemed like a guy who would sink his teeth into the mystery of undiagnosed-ness and analyze all of the puzzle pieces with me, trying different things to see what fits.  But now I’m alone again.  Just me and the medical charts.

So I guess after the results of this test come back (3-4 weeks, but I’m not getting my hopes up) we’ll probably be done with Dr. Hesincharge.   We’ll settle into preschool routines and enjoy the fall and I might not even think about genetics for a while . . . but when I do, we’ll go back to the first geneticist that we saw (who was very nice, but also not very aggressive).  While he may have been a little more relaxed and slower to test, at least he hasn’t given up on us yet.

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.
 


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July is like that time I was stuck in an elevator

I'm not a fan of elevators.

Particularly in the summer time, in the older buildings where the ventilation is questionable and the elevators are small . . . there's a little voice inside my head that starts when the doors close, chanting "just-get-there-just-get-there-just-get-there", and a small but undeniable breath of relief when they open again.

Back in the summer of 2005 I was stuck in an elevator for 24 long minutes . . . and during that time I miraculously only had about 20 seconds of panic, simply because more than that wasn't an option.

It was a tiny elevator.  Dave & I were accompanied by a very large middle-aged man, a woman in her late 20s, and a very elderly, frail woman who had only gone downstairs for a moment to pick up her mail.  The (extrememly tiny) elevator started up only to stop midway between the second & third floors.

A high pitched
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE alarm started screaming.

It was June. It was hot. There was no ventilation.

We were packed in like little standing sardines, literally about an inch between each of us.

All of our eyes were wide and I could feel blood rush to my head and my inner panic voice start with "Nonononowe-have-to-get-out-of-here".

And then the other man totally. lost. his. mind.

He pushed past everyone to the front of the elevator (which made the elevator shake) and started pounding on the door, which made the elevator shake more (scary).  He was screaming (screaming) "GET US OUT! I CAN'T BE IN HERE! GET ME OUT OF HERE! HEEEELLLPPPP!"


And instantly I took the panic rising in me and put it out, like dunking a match in water, because I had lost the luxury of having a meltdown.  I don't think you can have 2 hysterical people in an elevator, and his hysteria clearly trumped mine.  So he got to panic and we focused on convincing him that this wasn't a big deal.  Eventually the NYPD arrived to set us free.  (To this day I ask myself "is this elevator too crowded to spend 20 minutes in" before I make an elevator commitment.) 


Anyway, this July is kind of like that elevator.

For the past 3 days, I've been flailing, feeling an anxiety rising up with every appointment that gets added to the calendar.  Our therapy schedule has totally flipped, as everyone shifted for the summer days . . . this leaves me standing in front of my giant calendar early each morning, rubbing my eyes and mumbling "Wait, what day is it?  And who is coming here when?" Also, since everyone vacations at some point, each therapist has to squeeze in make-up sessions while they're around.

On top of that, we have a crazy number of appointments.  This week included the 4 hr audiology eval and a 1.5 hr functional hearing eval.  Still to come this month are (chronologically): a physiatry eval/revisit, preschool registration, another hearing eval, an opthamologist eval, another hearing eval.  And possibly an ENT follow-up thing.  And there are only 15 business days left this month.  That's a lot of appointments. (Also, because the team that we are working with is fantastic, there are a lot of emails, surveys and inventories that have to be completed before & after appointments. The fax machine has been buzzing with reports and data from the appointments. Papers are piling up.)

I had to buy a travel calendar to carry in the diaper bag because I can't keep it straight.

For the past 2 days my inner voice has fluctuated between " I hate July I hate July I wish that this was done already" to "How will we ever make it through July?" to "One day at a time, one appointment at a time, we will get through this month".  That seemed like progress, but then a flash of realization today . . . am I wishing away a month?  A whole month?

My big goal for this month of my life is just survival? 

That can't be right. 

So I'm putting out that match of anxiety again, as I will not allow myself the luxury of struggling and moping through a month.  I am consciously choosing to pull out my most zen self. 

I will not rush through this month.  There will be sprinklers. 

There will be ice cream. 

(There may also be less lengthy blog ramblings . . . que sera sera.) 

Happy Easter and where I won't be on 5/11

Happy Easter!

We actually made it out to NJ to relax/celebrate with my family, which was great.  Maya coughed through the night but never had any struggling-to-breathe attacks, so we packed the nebulizer and medications and headed out.  When her breathing started to act up and we realized that we would have to cut our visit short my mom rushed to get lunch/dinner out early so that we could eat with the family before we left, my dad broke out their air conditioner and fired it up so that we could cool & dehumidify a room to ease her breathing, and my sister & brother-in-law cut up their big cake early so that we could take a chunk to-go.  My family is pretty great :)

A few pictures (we packed meds, but not a camera, so these are from my cell phone):

Easter egg hunting with a Christmas gift bag (small and easy to carry without tripping over, of course)

After we got home I opened some mail.  It turns out that one of Maya's upcoming appointments has been rescheduled, and the office mailed me a new appointment card and this note:

In case you can't read that, it says:

"The doctor will be out on 5/11. 

I have to cancel your appointment on 5/11. 

Here is your new date. 

Don't come on 5/11. 

Thanks."

So . . . wait. 

Does that mean that we're still on for 5/11?

I guess that this proves that the patient/receptionist relationship is a tricky 2 way street.  I go out of my way to be courteous and pleasant when interacting with doctor's office personnel, but there are definitely times when I get off the phone and mumble, roll my eyes, and think "Honestly, people!  This shouldn't be so hard!"   Clearly, the office folks deal with their fair share of seemingly incompentent people.  I almost feel bad for the woman who sent me this note---I can almost hear her internal dialogue as she wrote my note:

The doctor will be out on 5/11.                               

Wait.  Is that unclear?  Would she know that if the doctor's not here, she shouldn't come?

I have to cancel your appointment on 5/11.
Ok, that's clear.  And the underlining is a nice touch.

Here is your new date.
So, I cancelled, I gave her the new date . . . anything else?  What if she still thinks she should come . . .  (sigh)

Don't come on 5/11.
She'll get the point now.  Hold on, that's clear, but not so friendly.  Need something nicer to end with . . .

Thanks.
Perfect.

Who doesn't love naptime?

This week is giving me a smack down.  It's laughing at me . . . "What's that?  Preschool is settled and you think you're on top of the world?  Well, how about a terrible hearing evaluation (smack!)?  And an impossible decision to make about another medical test (smack-smack)?  And a dermatological issue, and an allergist appointment (smackitysmacksmack!)?"

I cried on the phone with a doctor today.  The good news is, I don't think he could tell.  The bad news is, I'm clearly a little overstressed if I'm in tears just talking about decisions that we'll have to make a few weeks from now. 

(Pull it together, woman)

Maya helped me destress by finding the perfect book to read this morning:

Nothing to see here, Mommy.  I'm just pickin' a book.

 I know it's in here somewhere . . .

  

Victory!

And when naptime rolled around, she was as ready as I was . . .



Funny, that's exactly how happy I am when I get to take a nap.

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 . . .

Can you hear me now?

Maya's ear tube surgery will be tomorrow at 8:50am. We will check-in at NY Eye & Ear Hospital at 7:20am. The procedure should be simple enough . . . the 2 stressful parts are keeping her happy despite not being able to eat prior to the surgery, and then the recovery from the anesthesia. It threw her for a loop last time.

Keep us in your thoughts, and I will update tomorrow, even if it's brief.

Tubes & books

1. We had an ENT appointment Monday. Poor Maya has another ear infection developing, which sealed the deal for tubes. She'll be getting them on March 16th, or earlier if there's a cancellation. Based on the doctor appointments we've had we can definitely say she's had fluid in her ears for at least the past month, but since she had an ear infection in November and one in December it could be much longer. Maybe the surgery will help her hearing (fingers crossed). We're not super psyched about another surgery day, but this is supposed to be an easier procedure and recovery that the adenoids were. You can find more info here about ear tube surgery.

Playing in the waiting room:


Chilling at Blockhead's on Valentine's Day (note the heart shirt, and Dave's stylish tie):

2. I've rejoined the website Paperback Swap. If you like to read, but have gathered enough books and want to clear some out, this site is great. For every book that you mail out to someone, you get a credit and can request a new book. I have had the recent urge to get rid of all of the "stuff" in the apartment, and I like amassing credits so that when I want a new book I can get one for free!

PS. Oh, and the rats are huge and live in a double decker:

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!

Surgery

It's been 3 days since Maya's adenoid surgery and she is recovering well. She has periods of whiny-ness, sometimes is eating a bit less than usual, is super congested, and is not 100% herself. But she's recovering from surgery and teething (no teeth yet, but the front bottom two are so close!), so we're just waiting and giving the occasional Tylenol.

The doctor said that the adenoids were at least as big as when he last saw them (he thinks that they were slightly bigger) and that the surgery went smoothly. She was VERY tired afterwards and wouldn't eat until after 1pm (surgery was done at about 8:10am) so we had to spend a good part of the day in the hospital. We watched her sleep and tried once an hour or so to wake her up and feed her. We shared the large room with a few other kids who were also coming out of similar surgeries (Maya was the youngest by a few years). Here is a glimpse into what the day looked like:

Our bracelets, and Maya's anklet

Daddy & Maya in the pediatric play/waiting room (notice the pout . . .she was getting hungry and we were trying to distract her)

Pom-poms are a good distraction

I LOVE pom-poms!

Hmm, these pjs may be a bit too big

Dressed up before the surgery

Maya & Mommy (in scrubs) heading down to the operating room

Immediately after surgery

Getting wheeled upstairs to Maya's crib

Resting

Clearly, still drugged up

This is how I feel, Dad

No, no food! I mean it!

Seriously, back off guys. I'm beat.

Starting to play

Hi everybody!

Cutting off the IV board & tape . . . FREEDOM!