A kind-of answer. Maybe.

When you’ve sent out a genetic test knowing that the results will take six to twelve months,  you don’t wait on the edge of your seat for the phone to ring.

When you’re on your sixth genetic test and the results have been “normal” every.single.time., it becomes difficult to anticipate hearing anything but “The results were typical.”

When you’ve been looking for the answer for three and a half years, you don’t really expect one anymore.

And so last Thursday, on the first day of Maya’s summer vacation, while she played with Dave at home and I sat in the waiting room of my obstetrician’s office, the samples that we had sent out for exome sequencing back in December were just about literally the last thing on my mind.  I was waiting not-so-patiently for my glucose test blood draw, thinking about what I would eat when it was done, and mentally composing a to-do list that was roughly 100 items long.  I took out my phone to jot down a reminder and saw that I had new email.  From Dr. Yale.  Which said:

Hi Dana,

Is there a time that we can talk?

I’m on call until tomorrow, tomorrow afternoon would work well for me.

Dr. Yale

If I could have called right then, from the waiting room, I would have.  Tomorrow afternoon?  Really?  It’s difficult to wait for results.  It’s painful to get a hint that seems to say there is an actual result of interest (if there had been nothing found I expected that we would have heard later, rather than close to the six month mark) and I have to wait to hear it.  It’s torture to know that something genetic has probably been found in your child, and you are 6 months pregnant with another child, and now you have to wait another day to hear the results.   

I emailed back requesting an earlier call (and paraphrasing that last sentence in the above paragraph) and Dr. Yale replied that I shouldn’t worry, results were tentative and very unlikely to repeat in a subsequent pregnancy, and that tomorrow afternoon was really the earliest time that he could talk.

So, we waited . . . kind of.  We weren’t about to just waste a day of Maya’s time off sitting around, so we spent a lot of the next day at the mall, and when it was time to take the call about the results I found a quiet corner of Barnes & Noble, settled in, and took rapid notes on my tiny pocket notepad.

Here are the facts, presented for the sciency folks first and then translated for the general population.

Sciency: The research team has a tentative finding.  They found a de novo nonsense mutation.  While they can’t be certain that the finding is causative, the activity of the proteins produced by this gene have appeared to be potentially developmentally significant (as indicated in prior research), making a reasonable case for this mutation being causative in nature.  This mutation has never been documented before.

Translated: The research team has found a mutation that might be significant.  The mutation did not come from Dave or from me, and therefore was totally random and spontaneous, happening some time very shortly after conception.  This means that the chance of it happening again (or the chance of it happening the first time, for that matter) is very close to 0%.  The team cannot be certain that this mutation is the cause of Maya’s developmental delays, but it seems like a solid possibility.

This mutation has never been documented before. 

Ever. 

There is no syndrome name, or support network.  No articles to read or charts to compare.  And so, even with a (possible) answer, we are still in the not knowing.  Still in uncharted territory, perhaps now even more so than before. 

Dr. Yale went on to tell me about further testing that we could do, which would help to determine whether this finding is in fact causative (meaning, is this finding “the answer”, or just a random unrelated thing). 

(We returned to Yale yesterday to give samples for this next round of testing, which will examine the proteins created by this gene.  Many genes code for proteins, and the proteins created by this particular gene have been found to be active during fetal development and early childhood . . . so, if Maya’s instructions for making the protein are garbled, and the proteins are possibly misshapen, it would make sense that development could be affected.  (On the flip side, if the proteins made by this gene have been shown to only be active in, say, the kidneys, we would know that this mutation probably wasn’t linked to global developmental delays.)   This round of tests will likely take a few more months to come back.)

The call ended, we had frozen yogurt at the mall, picked up a birthday present for one of Maya’s little friends, and drove home.   That night, after Maya was tucked into bed, we called and emailed family and gave them the news.  I had forgotten how draining it is to tell, and then retell, medical results. 

The most common question that’s come my way is “how do you feel about it?” 

So far, honestly, I’m not feeling much.  I’ve got a kind of delicious numbness happening, and I know that somewhere beneath it are some good feelings all twisted around some negative ones, and I don’t  feel the need to try to sink into that and untangle it all just yet.  Instead, I’m going to enjoy the rest of my family’s week off.  There’s time for thinking later.

We remain extremely grateful to the people who donated to Maya’s sequencing back in December---your support made this finding possible.  Now we’ll wait to see where it leads.  Thank you.

  

Thank you

In the past 6 hours Maya's fundraising goal has been met.

This has been amazing. 

The texts, instant messages, Facebook messages and phone calls have been coming in, asking if we're watching the page, if we're reloading, if we see the numbers adding up.

Yes, we've been reloading.  Constantly.  Amazed.

Thank you.

Maya's fundraising page will remain up.  Any additional funds raised will go directly to other children who are waiting to have their samples sequenced (not to larger, institute-wide fundraising).  These are kids just like Maya, and they appreciate your support and generosity as well. 

My contact at RGI called me a little while ago to ask if we would be ok with leaving the page up to catch potential extra funds for other kids and we were more than happy to do so.  He also informed me that he had reached out to Dr. Yale to let him know that he should get ready to start sequencing.  He was floored by the speed and generosity of Maya's network.

She's got a lot of people who love her and are cheering her on. 

Thank you.

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. 


 

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.

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.  :)

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 :)

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!

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.

10 months old, fish faces & upcoming appointments

Happy 10 month birthday, Maya!

Maya has started sucking on her lips and making fish faces, like this:

(disclaimer: THIS BABY IS NOT MAYA. I just googled to find a pic that showed the face.)

I think it has something to do with teething. She doesn't have any teeth yet, but you can feel 2 big bumps on her bottom gum where the first ones will be.

Upcoming Dr. visits (the next 2 weeks):

-Thurs (4/2): 10 month pediatrician visit

-Fri (4/3): Swallow study (at a hospital downtown). She will drink a barium-laced bottle (and possibly eat some food too) while getting x-rays done so that we can watch her eating process. It seems likely the her suck-swallow-breathe coordination is off, and this will let us know for sure.

-Mon (4/6): Big meeting with the developmental pediatrician to go over the results of all of the evaluations that have been done over the past 2 weeks.

All done!

Our doctor appointments are DONE. Well, for now. Until next Thursday night. Oh, and then April 6th. And 2 on the 20th. And one on the 30th. Oh well. It was a nice celebratory moment while it lasted :)

Today we had physical therapy & occupational therapy evaluations. I thought they were intersting (mostly playing on the floor with different toys, trying different positions). Poor Maya was wiped out by the end . . . it was like baby aerobics).



(Did you know that if you Google "baby aerobics" this terrifying picture comes up?!?!)


The therapists both said that she'll qualify for services based on her delays, but they were impressed with her positive attitude and willingness to keep trying new things. We learned a few new exercise tricks, too :)

New appointments on the horizon:
Thurs, April 2: Normal 10 month pediatrician appointment
Mon, April 6: Meeting with developmental pediatrician to review the results of the 5 evaluations

Today's medical briefing

Shout-out to my dad for coming with Maya and I to today's appointments. It's really helpful to have an extra set of hands, and a bit of moral support as I answer the SAME negative questions (Nope, she doesn't say Mama. Nope, she doesn't clap. Nope, she can't hold herself up.) Good times.

Physiatry

First of all, what the hell is physiatry? I was going to put in a little hyperlink here to explain what it is, but I have no idea. Everything that I found online compared it to physical therapy, but we have a physical therapy evaluation next Weds. I did a Google Images search to find a picture to help explain physiatry and this is what came up:

Does that help? I find Olivia Newton-John to be very helpful in explaining medical situations.

Anyway, at this appointment I answered the same questions again, she did the same reflex tests and experiments that we've already done twice (holding blocks, tilting her when she's sitting to see fi she tries to catch herself, etc.) Same findings-most skills are around a 6 month old level, with a few good standouts.

Feeding/Speech & Language

Not much of a surprise, she has issues eating and is also behind in the babbling noises she's making. She should make more consonant noises, but doesn't (not shocking, since her tongue is often all over the place). We'll probably schedule a swallow study sometime soon because it seems like she has trouble negotiating sucking/swallowing/breathing. Oh, and I realized that we don't spend enough time repeating words & trying to teach them to her. So we need to do that more.

Met with Maya's service coordinator

Nice guy. That's about it.

The good stuff

Man, she's a really good sport about all this. Every doctor that we've seen has commented on 2 great things: she's super social (smiling, making noises at people) and really happy. She's a laid back, good natured kid.

That's all I remember, but I may be leaving something out because I'm beat. I'm at Starbucks (again) trying to finish my lessons for tomorrow. Back to work.

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.