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.

  

Undiagnosed Children's Day is tomorrow!

Tomorrow is Undiagnosed Children's Day!

This may lead to some questions, such as, what is Undiagnosed Children's Day, and why are you only telling us about it a few short hours before the big event?  I'll give you the long answer to the first one, but for the second let's just say that there was a bit of date confusion and I thought I had an extra week to get my act in gear (oops). 

What is Undiagnosed Children's Day?
Undiagnosed Children's Day is a day where you get to support (and, if you're feeling motivated, raise awareness) of the kids that you know (like Maya) who are undiagnosed.  It's an awareness day that was invented last year by another blogger, Heather of Team Aidan, whose son has an undiagnosed developmental disability. 

Why did Heather invent an awareness day?
A year ago, Heather wrote the post that kicked off Undiagnosed Children's Day, and she started it like this:

When people ask me for Aidan’s diagnosis, I say he has development delays and hypotonia (low muscle tone.) Those are words that get you nowhere. When he turned 6, he lost some services because that diagnosis was no longer valid. Happy 6th Birthday, poof, your disability is gone. No wait, the disability is still there but your services aren’t. In school he is labeled as multi-handicapped. That only works for school. Many agencies have different qualifying criteria. Don’t try moving to a different state because they may require a different name.

Yeah.  Getting older without a diagnosis is really difficult (she goes on to qualify, by the way, that having a diagnosis comes with its own pros and cons---we're certainly not saying that having a diagnosis is a cakewalk, just that it sure can be handy when you need it).  It's something that would keep me up at night, if I allowed myself to think about it for more than two minutes at a time.

There are other challenging things about not having a diagnosis, too.  One that gets under my skin is the skepticism that can come from inquiring minds.  Maybe someone that has a child with disability and is asking about Maya, or maybe it's from someone within the education/services world, or maybe we're visiting a new doctor . . . and when I say "She has a undiagnosed genetic syndrome" there's a flash, a little lightening bolt that flits through many of their eyes.  Some hide it better, while some fully commit with a raised eyebrow, but there's often a flicker of Oh, come on, don't beat around the bush, just tell me or Haven't you even taken her to get checked out or If it's 'undiagnosed' then how do you know it's genetic or whatever.   

You know what's especially biting about those skeptical folks?

I think I could have been one of them.

I'm a science girl. (I was a zoology major, a science teacher, an EMT, I have a masters in teaching science, and my mom's a nurse.  I was always kind of biology-nerdy, even before Maya.)  I like data and tests.  Had someone told me that their child was undiagnosed I'm fairly sure that I would have been very curious and asked a lot of questions (hopefully politely, but who knows).  My level of skepticism probably would have depended on what I thought of the parents and their capability to find the right doctors and push for tests and advocate and whatever.  My outer opinion would have been sympathetic. My inner voice would wonder when they would be able to get the diagnosis-------when, not if, because this is 2012 after all, and we're sequencing DNA and all that jazz and how could there just not be a test to run that would bring the answer in?

This is why a little awareness would be helpful.  Because I would have been skeptical of someone in my own position.  Because despite being a graduate-degree-educated-big-city-science-nerd, I had never been aware of the limitations of medicine and science in their ability to diagnosis children who are struggling with nameless syndromes or disorders. 

What does one do to participate in Undiagnosed Children's Day?
Wear blue!

That's it.

Ok, that's not totally it.  First, wear blue.  Then, if you can, share something about Undiagnosed Children's Day---on your Facebook, via email, with a tweet, dropped into a phone conversation, however you want.   You can share this post from Heather, or her original Undiagnosed Children's Day post, or share this post that you're reading right now.  Share a picture of yourself rocking out in blue, and let people know why you're wearing it.

And if you're wearing blue, share it with us, too!  Because if there's one thing that's tough about the undiagnosed world, it's the going-solo-ness of it all.  Heather wrote:

The whole “undiagnosed developmental disability” thing happened slowly, much like a gentle slope you didn’t realize you were on until you hit the bottom. The bottom: left behind by state workers who need to check a box, left behind by the moms who said, “but you must know what caused it,” left behind by the support groups who rally around kids with CP or Down Syndrome (ok, to be fair, I’ve met awesome moms who have asked me to come to their groups anyway), left behind by foundations that research specific diseases. Alone.

If I had had Maya 20 years ago, pre-internet, I would have been lost.  If not for the ability to seek out bloggers, therapists, AAC specialists, and other parents (and then badger them via email, FB, and twitter until they answer my questions and beg me to leave them alone) I'm really not sure what I would have done.  I push into other online communities and try to glean what might work for us, but there is a loneliness that comes with not having a group that totally gets it.  Even the undiagnosed community is so hugely variable that it's tough to find a great fit.  We're so lucky to have wonderful families, supportive friends, and online allies . . . but there are many other undiagnosed families who don't have that, who just wish more people understood.  And tomorrow, when test results come in to doctor's offices around the world and more parents hear "The results were normal.  Let's just wait and see, and check back in 6 months." our ranks will grow.

So tomorrow, wear blue.  And share Undiagnosed Children's Day, and the fact that even with today's advances in medicine, technology, and science, there are large numbers of families who are still looking for an answer.

 

Maya's story is in Bloomberg News

Today was a big day for Maya--she crashed on to the mainsteam news scene.  She appears rather nonchalant about the whole thing, really.  I asked her if she was excited and she used the iPad to say "milk-milk-milk-milk".  So, I guess that's a no.

Several months ago I was put into contact with a reporter from Bloomberg News who was working on a series of stories about genome sequencing.  At the time, we were still in talks with RGI, planning to meet with a doctor sometime in the future about the possibility of genome sequencing.  We spoke with John many times over the next few months, and he came down from Boston to meet Maya (and brought a camera man to shoot some video of her playing and an on-camera interview with me--eek).  We kept checking in as we went to Yale and shared our story here, and then had the fastest fundraising ever.

I kept it a secret, because news seems fickle to me, and I felt like I didn't want to mention it until it was a sure thing.  A really sure thing. 

Today, the article went up on Bloomberg's website.  The first half of the article addresses the potential that genome sequencing has with regard to curing cancer (hence the title), but the second half is about Maya's undiagnosed story.  There are 2 pictures, and then the aforementioned video sequence (which is slightly extreme-close-up for my taste, but overall well done, and I don't sound like a fool, so . . . win, I think.)

Here's a link to the article.

Here's a direct link to the video (which you can also see on the left side of the article). (Also, the video opens with one of my favorite pictures of Maya---her first "real" smile.  So cute.)

And if you're interested in following the series, here's a link to John's first article (posted last week), which was the first in the series.

 

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. 


 

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.

A girl and her dog (and last day for the giveaway!)

How about a little Maya-Parker love on this gorgeous Monday afternoon?

One of the sweetest things about returning from our vacation 2 wks ago was the reuniting of Maya and Parker (who had spent the week at my in-laws).  Maya spends a lot of time petting him, hugging him, and giving him kisses . . . and he spends a lot of time being very patient :)  He seeks her out, too---bumping her with his nose, bringing her his toys, etc.  Getting her a dog was possibly the best thing we've done for her :)

Check out the video (taken from my phone---sorry for the quality) from this morning.  You'll want the volume on to hear all of her giggles, which escalate when he decides to throw in some little barks.  2 notes:  1.  Although you can see his mouth opened a little at times, know that he's extrememly gentle with his nose/mouth/teeth  2.  Maya's hugs are not usually quite so vigorous. 



How sweet is it that he wrestles out of her hug just to turn and lick her nose?!


Today is your last chance to enter the Leapfrog Letter Factory DVD giveaway!   Winner will be picked & posted tomorrow evening----you can enter up to 5 times, go check it out!


Also, next week I'm taking Maya to see the geneticist to have a new test done.  I've got some thoughts on that, but no time to sort through them just yet.  We're too busy enjoying the last throes of summer (and some beautiful post-hurricane weather) to get too serious at the moment.  Summer fun now, deep thoughts later.

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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You've got questions, I've got (some) answers . . .

A little while ago I welcomed any questions that you all might have, and I got a bunch.  Since I've been spending all of my "free" time this week cleaning and decluttering (which is paying off big time) answering some questions seems like an easy post :)

(Edited to add that I made it halfway through the question list I have---so this will be part one of two.  Or, if I get more questions then I'll make this an occasionally regular thing.)

1. How did you pick Maya's name?

This is an easy one :)  Way back when I was pregnant I belonged to a "due date club" message board (all ladies due in May 2008).  Someone joked that one of us should name our baby girl Maya, since the word "May" was right there in the name . . . and I kind of chuckled and then thought "Wait.  I like that name!".   It  seemed easy to read (and pronounce, cross-culturally).  It fit everywhere---I could imagine Mayas of many ethnicities, and it had many diverse and lovely meanings, with different cultures all laying claim to it.

I mentioned it to Dave, he liked it too, and it quickly became our top girl name, back when I was only a few months along.  Her middle name, Grace, was just something that I liked . . . plus it made her first 2 initials "MG" which happen to be my mom & dad's initials, and I like that too.

As a funny side note, our second place girl's name was Harper.  We went into the hospital thinking that if she was a girl she would probably be Maya, unless she seemed more like a Harper (I don't really know what that means, but I felt it was important to have a choice).  After the birth, Maya was taken into another room in the hospital to be suctioned and Dave followed her.  As my midwife was fixing me up she said to me "Does she have a name?", to which I replied "I think so, but I need to double check with Dave."  About a second later a nurse came in and said "Maya looks great!" and I laughed and said "Yeah, I guess she's got a name" :)

2. Do you miss teaching?

I do.  I miss sharing my science nerdy enthusiam, and my general love of learning.  I miss getting to interact with so many kids, and hopefully encouraging them to enjoy learning academic stuff and character stuff, too.  I also selfishly miss it because I thought I was pretty good at it, and there's that level of satisfaction that comes with a job well done . . . but I just don't have the time to do it well, not any time soon.  At least Dave sometimes lets me help him brainstorm lesson stuff.

3. What do you do for YOU time?

You time?  What's that? :)

I have a support group that I go to (once or twice a month).  I belong to a fun book club :)  Dave is an amazing husband and dad and loves spending time with Maya, so sometimes he'll just take her to the playground while I do come cleaning (really, I love getting things organized and away) or read a book.  I play Scrabble on Facebook.  This blog actually takes a fair amount of time, so I think it counts as my #1 "hobby" . . . although I still can't bring myself to say "I'm a blogger".  That sounds so official!  I sometimes say "I have a blog", which sounds more casual, I think.  Like the difference between "I am a seamstress" and "I sew some stuff".

4.  I follow you on Facebook as well.  Are you able to see the profiles of people who follow you on Facebook?  And, if so, do you ever check out our profiles?

This question literally made me laugh out loud, so thanks for that!  I just envisioned myself in a dark room, late at night, lit up only by the glow of the laptop as I cyberstalked my Facebook followers :)

Ok, seriously now, first of all---thanks for following on Facebook!  It gives me an idea of how many people are out there reading, and that's really nice to see.  Second, no, I can't see anything about your profile.  Following my blog on FB is just "liking" the blog page----since you're not actually befriending me, I only have the same access to your page as any other stranger (so if your page was public, I would theoretically be able to see it, but if you have any privacy settings on, I wouldn't).     Sometimes if people comment on my blog and their comment links to their own (public) blog I'll go and check it out, but that's as far as I go in terms of hunting down readers :)

5. What about a diagnosis?

I received several questions about the whole lack-of-diagnosis issue.  "How do you handle not having a clear diagnosis?"  "Are you making any progress towards getting a diagnosis?"  "Do you have any additional thoughts on not having a diagnosis, and therefore a clearer prognosis?" etc.

Really, I haven't been thinking about it much at all lately.  There's only so much space in my mind, and since this issue will likely be around for a while I've just kind of stuck it on a back shelf, to be pulled out later.  I'm sure that it will be pulled out later.  But not now . . . now, with steps being taken and sounds being made, a birthday on the horizon and a summer of running (speed walking?  speed hobbling?) in the grass and sprinklers . . .well, it just seems like, who cares?  You know?


Thanks for the questions :)

Only 3 days until the big birthday bash!  (Or small birthday open house.  Potato po-tah-to.)