I'm at ISAAC

Today was the first day of the ISAAC 2012 conference.  Because I'm not a great hotel sleeper and I'm coughing every 6 minutes, I'm exhausted.  So I bring to you the quickest start-of-conference summary ever.

First, last night I got to meet Heidi & Renee, the ladies behind the Speak for Yourself app, which was really fun.  Here's a picture from dinner:

Today the Speak for Yourself team dropped a big surprise in the Exhibit Hall: the app is available for sale again---this time for Androids!  I don't really know what this means for the future, but it's exciting that the app is now available again for kids who need it.  (Personally, we are not going to jump to an android just yet---for one, our iPad is still currently working.  Second, the iPad has the accessories that we need--the AMDi case and the keyguard--which aren't available for the android---not yet, anyway.)

In other news, I got to listen to some amazing adult AAC users, hear some great presentations, and eat some delicious food. (That last part is not actually true, as the food here is oddly sparse.   Of course, the food is the least important part of that first sentence, but when you're closing in on 8 months pregnant food availability is on your mind. That's just the way it is.) 

I've heard some super smart people speak, learned some interesting things, seen some stuff that I'll likely try to replicate, made a big list of "stuff to google and learn more about later", and was able to discern that I'm doing a lot of stuff right, which was nice. 

Now it's time to dive into tomorrow's program with my felt-tipped pen and figure out a plan of attack.  And then to do a breathing treatment and go to sleep :)

A few more pictures:

Registration:

The exhibit hall, from above:

One of Maya's alligators, who needed to come with me---you know, because she said so. Or because I needed it to keep me company because I knew I'd miss her so much.  One of those two.

An interview with Maya

Things here for the past month have been kind of a blur, which is why there have been periods of blog silence.  Between the court case and the genetic discovery (and the press that went along with each) I've had my hands more than full.

In the midst of all of that, we awoke one morning to big cracks in our (cheap, old) kitchen countertops---as if there had been an earthquake in the kitchen.  We knew that someday we would need new countertops, and apparently that day had arrived.  Unfortunately, our plans for a quick swap-out were thwarted when we were told by the measuring team that our cabinets weren't level . . . so we had to have someone come out to level them. Then when they started working, we found rotten drywall behind the cabinets and under our tile backsplash, so the tiles had to be ripped out, drywall replaced, and cabinets removed and reinstalled. The kitchen is back together now, but we still don't have countertops or a working sink.  Someday, maybe.  It's been really fun doing dishes in the bathtub and carrying pitchers of water from the bathroom (especially at 30 wks pregnant-this belly gets in the way).

Oh, and allegies have been kicking my butt, and causing recurrent allergic pink eye. 

And I'm leaving in 3 days for the big ISAAC conference in Pittsburgh.

So, yeah, it's been busy.

The silver lining in the chaos, as usual, is Maya :)  Her silly antics keep us amused, and she has started to use her voice more and more, which is fantastic.  Although she's technically nonverbal (because she can't use spoken language), she's certainly not nonvocal (she was as a baby, but not any more).  Dave & I can understand a lot of her sounds as words--even though most others can't differentiate the little things (eg. "buh" means bus or book, but "buh buh" means bye bye or bunny, depending).

The other day I interviewed her and was able to record a lot of her current words. She's really trying hard, and she's delighted by her ability to use her voice.  Clearly, her repetoire is quite limited, and several times a day I have to say "I don't understand---can you tell me with the talker, please?"  Often she'll chat while playing, but send herself to the talker when she wants to clearly get a point across.  It's nice to be able to use both options---the talker and her voice.

I love watching these videos because I know that a year (or two or three) from now I'll look back and think "wow, she's got so many more words now, and they're so clear!"  Someday.




 

Irreparable Harm

In March, I wrote about a lawsuit that posed a threat to my daughter’s voice.  Maya, who is four years old and unable to speak, uses an app called Speak for Yourself (SfY) to communicate, and the creators of SfY were being sued for patent infringement by Prentke Romich Company (PRC) and Semantic Compaction Systems (SCS), two much larger companies that make designated communication devices (not iPad apps).  You can read the original post here, and see the numerous news articles that were spurred by this case here.  Maya’s voice, and the voices of all of the other users of Speak for Yourself, was being threatened in a very real, serious way.

Last month that threat was heightened when PRC/SCS requested that Apple remove the Speak for Yourself app from the iTunes store, and Apple complied with that request (despite the fact that PRC/SCS never asked the court for an injunction to halt the sales of the app—a move that would have allowed for due process and the decision of an impartial judge).  I wrote about the take-down and its potentially grave implications for Maya and the other users of the app, which can be seen here (and press from that post is here).  Here’s a quote from that post, explaining our fear and frustration:

With the removal of Speak for Yourself from the iTunes store, the SfY team has lost the ability to send out updates or repairs to the people who are currently using the app.  We are now only one Apple update away (to iOS, the operating system for the iPad) from having SfY rendered useless (because if the new operating system was to be incompatible with the code for SfY, there would be no way for the team to reconfigure the app to make it compatible with the new OS and send out the updated version).  Our app could stop working, and Maya would be left unable to speak, and no one would be able to help us.

Since that post, the parties have addressed the take-down of the app in court.  At this point the judge presiding over this case has heard PRC/SCS claim that this app is infringing, it should be taken down, and taking it down isn’t irreparably hurting anyone.  He has also heard SFY claim that this app is not infringing, taking it down is destroying their business, and it should be reinstated. 

You know who he hasn’t heard from? 

The people in this case who have the most at stake---the users of the Speak for Yourself app.

Until today.

This morning the court was informed that three users of the Speak for Yourself app intend to file a motion to intervene in this case.  My daughter, Maya, and two other children, Robert Hambright and Schuyler Rummel-Hudson, are seeking to make the court aware that this case is not simply a business issue.  They need the judge to understand that the decisions made in this case about the future of this app will seriously impact a group of people who are currently not represented in the case.

The motion to intervene is not an act of siding with either party in the case.  We are not offering any opinion as to whether Speak for Yourself is infringing on the patents of PRC/SCS, as we know very little of patents and that issue is best decided by the court.  Truly, that is not the important issue to Maya, Robert, Schuyler, and the other users of this app.  What matters to them is that their use of the app is not jeopardized, regardless of where the profits are going.  It’s crucial that the court is able to hear, understand, and take into account the (previously) silent victims in this case---the users who rely on this app to communicate.  The judge’s decision in this case will affect three businesses, but more importantly it will affect the communication abilities of many nonverbal children and adults.

Without filing a motion to intervene, the abilities of Maya , Robert, and Schuyler to communicate run the risk of being terminated without the court ever even becoming aware that they were on the line in the first place.  Our kids will not sit idly by and watch their voices become collateral damage, inadvertent casualties to a corporate patent dispute.  They have a right to protect their interest in this case, and the time to step up and do so is now.

Why now?

Earlier this week the parties in the lawsuit filed briefs that centered around the idea of irreparable harm.  The brief from SFY asserts that the take-down of their app from the iTunes store is causing irreparable harm to their business, both through monetary loss and critical damage to their reputation, and therefore the app should be reinstated.  The brief from PRC/SCS states that SFY is failing to show irreparable harm, and therefore the app should remain out of the iTunes store.  If I were an independent observer with nothing at stake in this case, watching these companies argue about whether irreparable harm is being caused by this take-down would actually be almost comical, as neither brief actually acknowledges the glaring, indisputable irreparable harm at the heart of the issue—the damage to the users of this app.

If Speak for Yourself ceases to function when the iPad’s operating system is updated this fall, and Maya and Robert are suddenly left unable to communicate . . . that will be irreparable harm.

The panic, confusion, frustration, and sadness of these children as they tap their touchscreens, trying to open their “talkers,” and are met with blank screens . . . that will be irreparable harm.

When Maya wants to call Parker (her dog), but is unable to use the loud voice of her iPad, and so she just sits alone whispering “Pa! Pa! Pa!” futilely trying to say it loudly enough for the dog to hear her . . . that will be irreparable harm.

Each day that Maya and Robert will have to wait, silent again, while our families search for some alternate communication system . . . that will be irreparable harm.   It’s worth noting that both of our families have used other top-rated systems in the past (including the Proloquo2Go app and the Vantage Lite device made by PRC) and we have deemed these systems to be inferior to the Speak for Yourself app with regards to meeting the needs of our children. This means that Maya and Robert would be left using some sort of system that does not allow them to communicate with the ease and understanding that they currently have with SFY.  Again, irreparable harm.

Unlike Maya & Robert, Schuyler is old enough to truly advocate for herself.  At her last IEP meeting she informed her team that she wanted to use the iPad rather than her speech device, in part because she could use it for school work as well as speech, but also because it didn't immediately point her out as a kid who can't speak.  Schuyler specifically chose SfY as the app that she feels most comfortable using to communicate.  If the app ceases to work, she will either be limited to choosing an app that doesn’t allow her to communicate with the same speed and efficacy, or she will be relegated into using a communication device that brings with it a social stigma over which she has already expressed concern . . . irreparable harm.

The time has come to make sure that these kids are heard, to move their stories from the court of public opinion into the court of law.  Personally, I’ve spent months considering this move.  Having had no experience with the legal system, the idea of court and filings and motions and briefs . . . it made me uncomfortable, anxious.  In the end, Maya’s right to a voice clearly outweighs my anti-litigious nature, and so we move together and stand behind her right to protect her interests in this case, to make her story heard.

To speak for herself.

Maya

Robert

Schuyler

If you are interested in the primary source documents:

•  The letter informing the court of Maya, Robert & Schuyler's intention to intervene
•  The brief filed by SfY on Monday
•  The brief filed by PRC/SCS on Monday

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.