Adding (bureaucratic) Insult to (permanent) Injury

It started with a realization: children Maya’s age were walking and running, and she was creeping unsteadily with her walker. Because of this, she was relegated to a stroller a lot more than other children her age . . . which seemed counterintuitive to the whole learning-to-get-around-independently goal. Walking independently would come slowly, with devices and splints and soreness and falls, and long distances would be more or less infeasible, at least for a solid few years. And so three years ago we applied for a handicap parking permit for Maya, an accommodation that she clearly qualified for and would benefit from.

In New York City, a handicap parking permit is a bit different than the ones you see outside of the city. Here there are no “handicap spots” on city streets, but you are allowed to park in a variety of areas (No Parking, No Standing Except Trucks Loading And Unloading, etc) that are typically off-limits to others. The permit lets us park closer to our destination, which allows Maya to walk to and from the car, just like any other 4/5 year old would. These permits are worth their weight in gold. If you could sell them on the street (which you can’t, as they are all hologrammed up and have your license plate number clearly printed in huge font on the front) they would go for a pretty penny. 

They aren’t easy to get.

And that’s ok. That’s fair.

Getting the permit proved to be a long process. We had to obtain a non-driver's photo ID for Maya (and if you think your license picture is bad, Maya probably has you beat). We waited to get her ID card in the mail, we filled out an application, and then we had to have a packet filled out by Maya’s pediatrician. The packet asked questions about the nature of her disability, the extent of her limitation. It asked, prominently, if this is a permanent condition. He said that yes, this is permanent. (And, every year since, he says that yes, it’s permanent.) After submitting the application, we waited to get assigned an appointment with a city-appointed physician. (This step, I assume, is to prevent city-dwellers from calling in favors from their doctor friends and getting permits willy nilly.) Then we waited until the date of our appointment. Then we went to the city medical building, met with the doctor for 5 minutes, and he told us that a decision would arrive in the mail. So we waited again. Finally, the permit arrived in the mail. 

It took about nine months from the time of our initial application to the time that our permit arrived. But we were happy. For a year.

The permit only lasted a year, despite the fact that my child has a genetic condition that is not going to change. Although she makes slow and steady progress, walking is hard work, climbing stairs is exhausting, and balance issues add an element of danger to any path we travel. Despite the “yes, this is permanent”, the pass only lasts a year.

Ok, fine.

After the first year the papers arrived to renew our permit, and I was elated to see that we didn’t have to see the city doctor.  It’s a gimme . . . you can get your pass renewed automatically.* 

(*except not really automatically because you have to resubmit papers, and if you miss the deadline then your permit would expire and you would have to start all the way back at the beginning again, do not pass go, do not collect $200.)

Another year passed. This fall we got the big packet again, forms for our pediatrician and the promise of a city-appointed doctor visit. Our pediatrician filled out the forms (yes this is permanent) and I mailed them in. As the days ticked by my anxiety level climbed---we hadn’t yet received an appointment with the city doctor, and yet our permit was soon to expire. A call to the permit office told us that they were backed up and we would now* receive a temporary pass to cover the time until they sent us an appointment time.

(*now that we called, of course, because even though they knew that they were going to miss their deadline and our permit would expire, they weren’t planning on making sure we were covered unless we took the initiative to point out that we were being left in the lurch. You know, like: “If you miss your deadline then no permit for you but if we miss our deadline and you didn’t realize it in time, then no permit for you.”)

In January, an envelope arrived. I assumed it was the notice of our appointment time with the city doctor. I was so wrong. Below the picture I've pulled the essential quotes from the letter:

In reviewing your application, we find that the additional medical documentation is required.

                -chromosome labs

                -CT scan: brain

                -developmental pediatrician report

                -psychological evaluation

                -IEP

                -school special ed

                -neurology

                -details of orthotics

The above requested documentation should be on your provider’s letterhead and forwards within thirty (30) business days of this notification . . .

You have got to be kidding me. 

First, a minor (but infuriating) detail---they fudged the date. While the top of the letter proclaims Date Mailed: 1/7/2013, the postmark quietly confesses that it was actually mailed a full week later. This is not the first time I’ve received correspondence from this agency with date discrepancies, although it was the first time that I thought to save the envelope and take a picture. With only 30 days to gather a lot of obscure medical documentation, they were trying to shave 7 off the top. A 3 week turnaround on a plethora of papers that need to be collected from hither and yon seems, well, unfair.

  

Not cool.

Second, a major (and also infuriating) point---most people don’t have copies of their lab reports at home. Generally MRI results, genetic lab results, developmental pediatrician reports, etc. remain in the doctor's office, in your file. Or files, actually, because the MRI would be in the neurologist’s file, the genetics labs would be in the geneticists’ files (that’s plural geneticists’ files, because we’ve worked with more than one geneticist), etc. That’s a whole lot of paper-gathering that has to be done. Add to that the fact that some doctors need written requests for copies of files and some hospitals need requests to be made in person with photo id. Some places are happy to fax things over, but not all people have access to fax machines. 

Third, some of these things don’t exist. “Details of orthotics”? What does that even mean? Is that something that I write? Or the physical therapist, or pediatrician, or the place that created the orthotics?  It’s clear as mud, and I’m fairly sure that if I don’t read their mind correctly our permit could be denied on a technicality. 

And now that the small stuff is out of the way, let’s get down to my two major contentions: relevancy and privacy. Clearly, when we applied for a parking permit, based on medical necessity, we must expect to divulge some personal medical information. As a parent, it’s troubling to send your child’s medical information into the great wide open, but that’s the concession that comes with asking for a medically necessary allowance. So I try to make peace with that. 

I understand that they need to know about her disability, and the pediatrician paints a clear picture in his forms and recommendations and yes it is permanent. I respect their request for information about her orthotics (do they really exist and what exactly are they for), and can understand why they asked for her IEP (does she really have physical therapy goals for this year) and progress notes from the school (which could possibly say that she’s met her PT goals and is now the champion at the 40 yard dash).  Perhaps I can even understand the request for genetics labs, although they are so intensely personal, because we claim that our need for a permit is due to a genetic anomaly. (Although truly, a letter from the geneticist should be fine. The details of my 4 year old’s genetic labs aren’t really necessary.)

But why the psychological evaluation?  There’s nothing psychological about our need for a permit. At all. Truthfully, had we not been going through the kindergarten process we wouldn’t have even had a psychological evaluation to offer.  Why the CT scan of her brain? First of all, it was done in 2009. Second of all, it was normal. Third, it has no bearing on this situation.  A report from her developmental pediatrician? And her neurologist?  Well, we haven’t seen the developmental pediatrician since 2011, and no word from the neurologist since 2009, but sure, I can see why you would need to see those reports, both of which are grossly outdated and neither of which have anything to do with Maya’s need for parking concessions.

It leaves me feeling like I have no choice but to expose an unnecessary amount of my daughter’s private medical information. Because that’s exactly what I had to do.

It was infuriating. And it felt very unfair. And I couldn’t see any way around it. 

So I sent it all in. On time. Labeled with post-its. Via certified return receipt mail.

And I waited.  I thought to myself, They must have a plan here. Probably, if you have a child with a permanent disability, you see the doctor the first year, get an automatic-ish renewal the second year, have to send in bucketloads of supporting documents the third year, and then maybe you get a ten year pass or something. 

When the envelope arrived this past Monday, I tore it open and was shockedfrustrateddisappointedsoveryangry to see that the pass expires in November. This November.  8 months from now I’ll wait to see what they ask for next, and in which way I will be expected to declare she’s DISABLED! She needs SO MUCH HELP! Let me prove to you HOW DIFFERENT my daughter is and how many SPECIAL NEEDS she has and how it is PERMANENT, it’s PERMANENT, and WHY MUST I KEEP TELLING YOU that she CAN’T WALK FOR LONG and her BALANCE ISN’T GREAT and everything IS MORE WORK for her.

And everything is more work for me.

And SHE GETS SO TIRED.

And I get so tired.

I am so tired.

I shouldn’t have to fight annually for a parking permit.  I need to fight for therapies, and to fight for school placements, and to fight for her rights over and over again.  I need to fight insurance companies and to fight for assistive technology, and then to fight people to use the assistive technology that I fought for.  I need to fight prejudices and fight ignorance and often fight her as she is pushed and challenged and learning to fight for herself (I hope).

I shouldn’t have to fight, annually, for a parking permit.  It doesn’t feel right.  It feels like I’m being asked to jump through hoops and hoops, just for the sake of jumping and the hope that I miss a hoop and don’t get the magic permit.  It doesn’t feel fair.  I’m not trying to steal something or to pull a fast one, I’m trying to get a pass that will allow my daughter to walk to and from her destination, just like other kids her age. She deserves it, fair and square. 

It seems like it wouldn’t be much more work to grant a 3-, 4-, or (hey, let’s get a little crazy) even 5-year permit to families of children who have clear and permanent disabilities. If not, why not at least make the permit last 2 years, since there’s an automatic-ish renewal in there anyway.  Or maybe just ask for the personal medical records that are actually essential to determining whether a parking permit is necessary, rather than just checking (many, many) boxes at random.

And to add insult to the insults to the injury, the permit that expires less than a year from now came with the note below, which includes the request to return any inactive permit(s) in my possession (please note the fact that in the past two years it has never been mentioned that expired permits must be returned).  It ends like this:

Please note that failure to comply with this regulation by submitting the inactive permit(s) will oblige us to make you non-renewable and prevent us from issuing you any future Permits.

Of course it will.

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.

  

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.

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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