Saturday, February 10, 2018

An AAC WWYD, for the professionals

A story for professionals:
Client/Student: 4 year, 5 month old girl. Pleasant, but self-directed. Limited attention span.
Language profile: Expressive vocabulary is extremely limited. Less than 5 clear words, with additional CV vocalizations that parents can reliably interpret. Receptive language is unknown, due to aforementioned self-directness and limited attention span.
AAC notes: Parents have rejected the AAC evaluation conducted by the district. They claim that the recommended device (a 32-cell speech generating device with up to 12 levels) is “too simplistic” and will not provide enough language. They have bought an iPad app and are attempting to implement it without professional guidance. All programming and implementation is led by Mom.
AAC access: Client has significant fine motor impairment. Parent-selected AAC app has 120 buttons per screen. Mom is confident that, with modifications (including a keyguard and/or homemade glove), access is feasible.
Session Notes: Client’s engagement during sessions is variable. Imitation skills are poor. Receptive language is difficult to assess, due to intermittent participation in planned activities. Parent, who is nearby during many sessions, reports that client understands many of the concepts targeted by clinician.
**Of note: Client refuses to acknowledge or access AAC device during sessions. Client infrequently attends to clinician’s modeling during sessions. Parent reports that client is able to use device independently, without prompting, for a variety of communicative functions (requesting, directing, commenting, and answering questions). Client has not demonstrated any of these skills in the presence of the clinician.
Clinician has been seeing client in the home, twice a week, for several months. No interaction with AAC device has been observed.

What would you think?

What would you recommend in your report?

What would you say to the other SLPs in your office/network/online group?

Maya was 4;5 when she started working with our home SLP (H). She didn’t touch the talker for months (MONTHS) in her presence. She only intermittently attended to modeling by the new SLP---often she seemed to not even acknowledge the device was there. I was the mom. This is not a fabrication, or an exaggeration----this is an accurate representation of the facts.
Fortunately, H listened to my reports. She provided advice and was a great AAC/language planning guide/partner, even though she never saw Maya use the device directly (she did see some videos). She believed, or at least acted like she did, and never made me feel like I had to “prove” anything.
I see, sometimes, professionals online who seem to feel like parents (or teachers, or paraprofessionals, or SLPs, or anyone) who believe in the capabilities of AAC users (when they themselves are not able to see these capabilities) are delusional. I see SLPs who claim ownership of AAC and are offended when parents (or other professionals) select and implement AAC systems without a full evaluation (or who reject a professional evaluation and “go rogue”). I see teachers who think it’s pointless to keep a device nearby, since they’ve never seen the kid use the device (or sometimes even look at it) anyway.

It’s gutting to hear these conversations (or to see them online).

Those kids are my kid.

Those parents are me.

I want to make sure you know what our AAC story looked like 6 years ago.

It’s easy to believe in her (and me) now, online.

It was harder back in 2012, twice a week, in person.

I’ll try to keep reminding you.

(image is a picture of Maya, age 9.5, smiling while in motion, looking away from the camera)

Friday, February 2, 2018

The Great Bike Giveaway!

The Great Bike Giveaway is a program run by the Friendship Circle every February.  The goal of the program is to provide children and young adults (under age 30) with adaptive bikes (which can be prohibitively expensive for many families). Here’s how it works:

1. The Great Bike Giveaway partners with the manufacturers of many adaptive bikes, and the manufacturers provide the bikes at a reduced cost.

2. Each child has a fundraising page on the GBG website, where people can make tax-deductible donations (to the Friendship Circle) and help children reach their fundraising goals. If a family reaches their goal, any additional money raised will be distributed to help other children reach their fundraising goals. (The organization also collects general donations that are distributed at the end of the donation period, and bike companies donate some bikes, so that families who have raised more than 50% of their goal still have a chance of receiving a bike.)

3. Kids get bikes and are able to join in riding with friends, siblings, etc J

If you are interested in signing your child up, the link is here:  Great Bike Giveaway Registration (There are a number of different bikes available, so it’s worth speaking with your child’s physical therapist to determine which bike might be the best fit for them!)

If you are inspired by this program and would like to donate to help a family provide an adaptive bike at home, this link will take you to the list of fundraising pages (just scroll down to see them): Great Bike Giveaway 

After a few years of watching this program, we’ve decided that the timing is right for Maya to get an adaptive bike. Will is quick, quick, quick on his scooter and he’ll be moving to a big kid bike this year. Maya has tried scooters and a regular bike (with training wheels), which worked for a little while (kind of)--but now she’s so tall! A typical adult-sized bike doesn’t provide her with enough stability to actually ride. She’s been using an adaptive bike at school (during gym and physical therapy), so I met with her physical therapist to check out the one she uses and to review the different options and sizes. We were happy to see that the largest size (which will last through adulthood—she won’t outgrow it) is a perfect fit for her! We’re excited for her to have an adaptive bike at home, so that she can have fun riding around at the playground and outside, just like her brother and neighborhood friends.

This is Maya riding a Rifton adaptive tricycle at school!
(image shows Maya in a school hallway, with blue lockers in the background. She is sitting on a large red tricycle, smiling and looking away from the camera, hands raised triumphantly)

Friday, January 19, 2018

Diagnosed, again.

Last week we learned the results of a recent evaluation: Maya is autistic.

In thinking about how to write this post, I wondered whether readers (who only get snippets of her story) would be surprised to learn this---I thought that possibly, yes. (It didn’t really come as a surprise to us.)  I thought that, if I were sitting to tell you in person, you might ask, “What made you guys go in for the evaluation?”

There were 4 (ish) reasons.

Reason #1: (flashback with me) It’s June (2017) and I’ve just gone into Maya’s room after she’s woken up. As usual, she is using her communication device (“Mini”) as a light, shining it onto one of the various reading materials (magazines, brochures, business cards, papers) that she keeps in her bed. I sit next to her and she shows me what she’s reading---it’s an article in a local “special needs” parent magazine, introducing Julia, the new autistic puppet on Sesame Street.  She pointed to the article and said, “I might have this.”


I paused, waiting for the parenting-coach-fairy who is surely supposed to appear at such a loaded, important-feeling moment and whisper just the right thing for me to say, but no one appeared. So I think I said something that wasn’t dismissive but also wasn’t exactly jumping into a big conversation---like, “Oh really? Why is that?” or maybe “Oh, that’s interesting. Maybe! Did you read something good about it?” and then, after she answered, changed the subject and announced that it was time to go get Will or something.
Reason #2: A few weeks before this conversation, we had received Maya’s genetic diagnosis: MED13L syndrome. While waiting for her final results, I had read about the syndrome, and the MED13L gene, and learned that its association with autism is being studied. Not all kids with MED13L syndrome have autism, but many do. I had begun to wonder if it was worth exploring whether an autism diagnosis would be a fit for Maya. Her comments nudged me to look into the diagnostic process.

Reason #3: Over the past few years, as Maya’s communication and motoric skills have increased, we’ve been able to learn more and more about her---things that she loves (LOVES!), things that she hates, experiences that she enjoys and others that are “too much”, etc.  (For example, while we always knew that she enjoyed papers and magazines, it wasn’t until she could independently run across a library, move around a pile of materials, get to the rack of fliers/schedules, select a stockpile of them, and triumphantly return to sit and read them that we really understood how deep her love for them really is.) As the way that she thinks and interacts with the world has also become more transparent, easier for us to see, our understanding of her as an individual has deepened. At the same time, our understanding of “typically developing” children had deepened---Will is now in elementary school, and the way that he thinks and interacts with the world provided us with an interesting contrast to consider.

Reason #4: Over the summer I was fortunate to work in a high school that had a large population of autistic students (I’m currently completing a degree in speech-language pathology).  It was a fantastic experience, and I was able to develop a more complete understanding of the diversity that exists on the autism spectrum. It wasn’t difficult to imagine Maya as a member of that community (well, other than the fact that it meant imagining her in high school---eep!).

When we initially met with the doctor to talk about scheduling an evaluation, she asked, “Why are you seeking diagnostic clarification now? Are you looking to change schools? To seek insurance approval for something new? What brings you in at this time?”  I considered the question. Maybe a diagnosis would change our path at some point in the future, I said, but right now we were really here for . . . culture, kind of.  In the past I’ve valued (and prioritized) Maya’s ability to meet and interact with other AAC users, because it’s important to connect with others in your community---people who share a unique perspective and set of experiences. To that end, if Maya is autistic, I want to be sure to help her learn about that part of her identity and support her ability to find and connect with peers in that community as well.   

This is a diagnosis that doesn’t change anything, because Maya still is who Maya always was. But it’s also a diagnosis that changes some important things: it may provide Maya with a deeper understanding of herself. It supplies a framework for family discussions about neurodiversity and more meaningful dialogue about why some things are more challenging for Maya than they are for Will, or for us (her parents).  

We’ve introduced the concept to her, and now we’ll follow her lead.  The other day she wanted to add the words “autism” and “autistic” to Mini, so I sat with her and opened up the editing screen.

Me: Ok, we’ll add autism and autistic. Where do you think they should go? 

(kind of holding my breath, because the screen she chooses will give me my first glimpse into how she's internalizing the concept of autism)

Maya: (looks at home screen on Mini)---(selects FEEL)

Me: That’s a great choice! Oh look---this screen is full. (taps to return to home screen) Where else might be a good fit?

Maya: (considers) (selects THINK)

Me: Perfect J

 (image is a screenshot of the THINK page in her device, with the words "autism" and "autistic" added on two dark blue buttons toward the bottom of the page. Maya chose the location, buttons, and images)

A few notes:

1. We’re choosing to use identity-first language (e.g. She is an autistic girl) as opposed to person-first language (e.g., She is a girl with autism). This is a decision based on years of reading pieces by (and interacting with) disabled self-advocates and autistic self-advocates, and also general gut feeling. This language choice validates autism as a central part of the way Maya thinks and interacts with the world---an important part of her identity—rather than viewing it as a disorder, something that needs to be fixed or cured. Thank you for respecting our choice.

2. You may notice that I said “There were 4 (ish) reasons.” This is because there are 4 reasons that we’re going to talk about here, and some other things that aren’t open for internet conversation. 

3. The online world of autism is a little intimidating. Anything that I write is coming from a place of genuine good intentions, but I may end up getting things wrong. I’m listening and learning as I go.

Friday, December 1, 2017

Elves use AAC, too!

Happy December!

If you are part of an AAC family and you have an Elf on the Shelf, this post is for you (and I need your help)!

Did you guys know that elves love to use AAC?! It's true!

For the past 4 years, our elf has visited one of our talkers, much to the delight of Maya and Will. It's happened once per year----but I have a feeling that this year he may leave a few notes :)  Sometimes he even leaves a photo behind that shows him with the talker! Maya has saved these photos on her wall for years (literally).

photos of our elf using the talker in 2014 and 2015, hanging on Maya's wall

Wouldn't it be fun if our kids could see pictures of all of lots of elves using different talkers? I have a feeling that my kids would love to see AAC-loving elves and the notes that they left behind for other AAC loving kids :)  So here's my proposal---if your child's elf uses their talker on/before the night of December 14th, send me a picture! On December 15th, I'll post a compilation of all of the AAC-using elves. They'll be fun for the kids to see, and fun for us to see how silly those elves can be ;)

What you do:
1. Your elf visits and uses a talker! Hooray! Snap a picture!
2. Send the picture to me in any of the following ways (whatever's easiest-no need to do all!). Also, if you'd like, share some information about your location, child, AAC system, and elf (totally optional). I'll put up whatever you send. For example, "Dabadee the elf came last night and left a note on Maya's talker! It said 'Today would be a great day for some hot chocolate!' We live in New York City and use Speak for Yourself---we didn't know that Dabadee liked to use a talker, too!":

  • email to
  • post on Instagram, use the hashtag #AACelf and tag me @uncommonsenseblog 
  • post on Facebook (make sure your setting is public), use the hashtag #AACelf and tag me @Uncommon Sense Blog
3. Get my reply---I will either reply to your email or comment on your social media post--that's how you'll know that I received it!
4. Check back on December 15th to see all of the AAC elves!

Our elf started using the talker in 2014, after I saw an SLP post something on Facebook about AAC and an elf. Here are some examples of what he's done in the past:

Dabadee (our elf) left a picture of himself using the talker, and a note that said "I left a note for you on the talker!" The note left on the talker read, Only 11 days until Christmas! 

 Another photo and note left behind! I don't remember what was written on the talker this year (oops)

This year the note left on the talker said, "Good morning! Will, I hope you have fun at Mommy's doctor today! Maya, have a great last day of school! Check your stockings for a surprise!"

Happy December, and happy elf season! See you back here on December 15th---and I can't wait to hear about your elf :)


Saturday, October 28, 2017

Scavenger Hunting

(image is of my kids, Will on his scooter and Maya in her wheelchair, studied scavenger hunt pages)

Last week a friend posted a fun neighborhood scavenger hunt on Facebook. This morning we awoke to a picture-perfect autumn NYC morning and absolutely nothing on our schedule. I printed up two copies of the sheet below, grabbed some Halloween stickers, and our family headed out for a lovely, leisurely scavenger-hunting walk.

Image is the scavenger hunt page that we used and a sheet of partially used Halloween stickers. 
This "Scavenger Hunt-Neighborhood Search" page was found at this website---grab and print here!

The kids searched as we walked, and we stopped frequently to put stickers on the squares for items that we spotted (you could also cross them out, stamp them, punch holes, put a fingerprint on each, etc.). 

This wasn't an AAC activity for us today . . . but it got me thinking about how many opportunities there are for language modeling and meaningful AAC use during scavenger hunt activities. These ideas are probably well-used by lots of speech and AAC folks, but they were new to me this morning----and maybe there are some people reading who could use a few easy ideas.

Here's some language that could be targeted during a scavenger hunt (scaffold up or down as needed):
  • Attention-getters: Look! Stop! Wait! (Halt! Freeze!)
  • Declaration: I see it/one! I got it/one! Show me! (Spotted! Nailed it! Ding! Success!) 
  • Narration: I am looking, We are looking (I'm/We're hunting/searching/investigating/spying)
  • Questions: What do you see? Where is it?
  • Negation: Not here, Can't find, Don't see
  • Emotions: Frustrated, excited, confused, victorious!

With some careful image/item selections, scavenger hunts could be crafted to target specific goals, as well. For example, if you're looking to target 2-word combinations the scavenger hunt could contain images like these:

(these images show pumpkins and ghosts of various colors. Images were retrieved via Google image searches)

These images could be hidden around a room (or home, school, yard, etc). When one is located the finder needs to use two words in order to communicate what was found ("yellow pumpkin," "black ghost," etc.). 3-word combinations could be targeted by adding another variable, like size, into the mix (which require the speaker to say "big orange pumpkin" or "small black ghost"): 
(these images are pairs of large and small orange pumpkins, yellow pumpkins, white ghosts, and black ghosts.
Images were retrieved via Google image searches)

The same idea could carry into other word combinations. For example, verbs could be highlighted by using images of different actions. Subject + verb combinations could be targets by using pictures that require both subject and verb to be identified in order to identify the picture (e.g., a boy painting, a girl painting, a boy singing, a girl singing). The subject target could be a pronoun---or, to increase motivation, you could use images of characters from favorite shows. (It's actually surprisingly easy to find images of show characters doing different actions via Google image searches). 

I particularly like the idea of using scavenger hunts for asking questions---sometimes targeting questions feels so contrived, but this is a genuine questioning activity, like this:

You (speech + modeling) : I see one!

You: Do you want to know what I found? You can ask, "what?" (model "what")

You (speech + modeling): I see the yellow pumpkin!

You (speech + modeling): You see it?

You: No? You can ask "where?" (model "where")

When your child indicates that they have found one, you can switch roles in the conversation and ask what and where questions in order to elicit more information.

This won't be a hit for everyone, but my kids are list-lovers. The idea of having a printed list in hand makes this activity really motivating and engaging for them.  Happy hunting!

(image is of each kid pausing to put a sticker on some item that they had spotted)

Sunday, October 22, 2017

Ghost Balloons (and free printable)

This week, while browsing Facebook, I saw the coolest little craft project---simple, inexpensive, difficult to mess up, and sure to delight! A librarian friend of mine did this activity with a student group and it was a hit (shout out to all of the children's/youth librarians!), so I stole it. It would be great to use with AAC users (or actually for a variety of speech goals)---or just with your own children at home.

Here's what you need:
  • .5 cup vinegar
  • 1 tsp baking soda
  • balloon
  • water bottle 
  • optional: index card (helpful for getting the baking soda into the balloon)
  • optional: funnel (helpful for getting the vinegar into the water bottle)
  • optional: sharpie (for drawing a ghost face, if you'd like)

Here's what you do:
  • (Note: Before beginning, I blew up our balloons to stretch them a bit.)
  • Draw a face on the balloon (if you'd like). The face will fade a bit as it stretches.
  • Measure and pour half a cup of vinegar into an empty water bottle.
  • Measure and pour a teaspoon of baking soda into your balloon. Tip: if you roll an index card into a funnel shape and insert the tip into the balloon opening, it's pretty easy to do get the baking soda inside. (Other techniques were not as successful.)
  • Carefully stretch the mouth of the balloon over the top of the water bottle---taking care to let the balloon flop to the side so that no baking soda escapes.
  • Lift the balloon, dropping the baking soda into the vinegar. The resulting reaction causes a sudden burst of bubbles and inflates the balloon!
I made a quick book to go with this activity. The photos show a pretty clear sequence of steps, although you may want to customize the pages (e.g., take out the index card page if you're not using it) and/or the text. For the sample book, I used simple sentences and repeated some core words (e.g., need, get, put, it, in, look) . . . but this activity could be easily used to target a number of goals and a wide range of vocabulary. The book has been uploaded as a (free) powerpoint file, so you can easily modify the text on each page, or add/delete pages. 

Here are the screenshots from "Ghost Balloons!"


The link to download the powerpoint file for this book is here: Ghost Balloons!  (I'm not sure why the file is so big--it says unable to preview because it's so large---which is why I uploaded the whole sample book here. It can still be downloaded from that link, just not previewed.)

If you end up using it, or doing this activity, swing by here or our Facebook page and let me know how it goes!

Sunday, August 6, 2017

Pool Noodle Art Robot (and free printable book)

Quick post!

In my sessions tomorrow we will be building an art robot. A few years ago, while at AAC camp, we built a similar robot using a cup---but I just couldn't get it to work at home. A quick google turned up a similar art robot with a pool noodle body, and it works perfectly. Here's what you need:

Must-have items:
-pool noodle (just slice off a chunk a few inches long)
-3 markers (those are the legs)
-vibrating toothbrush (You can find these at the drugstore. I got a 2-pack at CVS for around $9.)
-paper (for the robot to draw on)

To add extra fun and language opportunities:
-pipe cleaners (arms)
-construction paper and/or googly eyes (eyes, nose mouth----we'll use construction paper to add in extra language choices about which color to use, whether we want big or small eyes, etc)

Assembly is easy! Put face pieces onto the pool noodle. Stick pipe cleaner arms in (we didn't even need to pre-make holes for these, they slid right in). Turn upside down and tape on markers (they should be more or less evenly spaced, and sticking out about the same length, or your robot will tip). Then stick the toothbrush into the center of the pool noodle, turn on, and watch it go!  (I removed the toothbrush head from my toothbrush---it popped off when I tugged/twisted with pliers.) We also had to add a bit of tape around the body of the toothbrush to ensure a snug fit in the noodle.

I made a book to go with this activity. It's very simple and filled with opportunities to model core words for beginning AAC users (need, make, put, on, which, look, take, off, in, turn, it, go, stop, finished). I also plan on turning the robot on/off and modeling: my turn, your turn, on, off, go, stop, more, finished. Body parts (eyes/nose/mouth/arms/legs/body), colors (of markers and construction paper), and size descriptors (big/small) will also be used when we are making choices and assembling.

Here are the screenshots from "Building A Robot":

The book is available for (free) download. It's a powerpoint file and can easily be modified to fit your kids/clients/students! Here is the link to view/download "Building a Robot"


Tuesday, June 13, 2017

AAC after school: Most success, success, least success

It's been hot in NYC for the past few days, and heat takes a real toll on Maya. After school yesterday she seemed content, but exhausted . . . and (interestingly?) her verbal speech basically evaporates when she is tired. (Evidence of the need to advocate for AAC for children who are sometimes capable of verbal speech . . . but I digress.)

She told me "No snack today" and I asked "Why didn't you eat your snack?" and she yelled "No!" and wouldn't/couldn't tell me more. So I gave her a snack, set her up with homework, and tried to ask a little bit about her day . . . but I got nothing in response. At all.

So I pulled out Mini, and sat at the table next to her. Without saying anything, I started to tap out the beginning of a sentence (in whisper mode so she couldn't hear what I was saying, because secrets are her kryptonite). And when I finished tapping out "I didn't have snack today because" I slid it over to her and she filled in the rest:

(image is a photo of Mini's screen, which reads "i didn't have snack today because I not open it mon". Maya calls me Mon instead of "mom.")

Victory! I got the information that I wanted (she's been having a bit of a snack stand-off for the past few days, so this answer makes sense to me). I decided to continue the game---I would write a sentence starter and then pass Mini over, and Maya could complete the sentence. It seemed win-win-win: good modeling, good home-use-of-AAC, and a good way to sway Maya into talking about her day.

I grabbed my phone to take a quick video clip, with the thought of sharing this story here. And I got a good one! 

And a mediocre one! 

And a lousy one! 

And while it's kind of the norm to share highlights online, I thought I should just share all three . . . because real-life-AAC-family. In the first part, the strategy works. In the second, you'll hear a distracting little brother, bathroom talk, a mom-who's-trying-to-keep-everyone-focused-and-failing. You'll see Maya get tired, get distracted, and lose interest at different parts. And in the third section, it's just not happening. (Although I should note that AAC use by me, even when rejected by Maya, is still validating AAC as communication that I enjoy and am happy to use---so it's not a failure! It's just the least successful example here.)

Real life, folks. 

Monday, June 5, 2017


She talks so much now.

It takes me by surprise, frequently.

Sometimes she speaks to acquaintances (neighbors, local friends) and I open my mouth to translate exactly as they open their mouth to respond to her, not needing my translation because they understood her just fine.

Other times (like in the video below) people (including me) think they understand, and respond as if they understand, and the conversation turns away from her message, and she often doesn't fight back to correct it. 

Sometimes she is so tired in the afternoon, or when she isn't feeling well, or when she gets too hot or too cold or is somehow off-kilter, and she is silent again. She'll use Mini then, if I bring it to her and sit quietly with her and we take turns tapping things . . . but the quiet, the almost total lack of speech . . . it surprises me, too. Just as much as the talkative times do.

Once upon a time, we fit so clearly into the second A of AAC (augmentative and alternative communication)---her talker was an alternative form of communication, since speech wasn't accessible. Now we straddle the augmentative and alternative worlds---sometimes our device augments speech, sometimes it's an alternate method of communication, and sometimes we have to go and search for it because we haven't used it in hours (whoops).

The video below, in which Maya describes some drama from her bus ride home, is a snapshot of Maya's speech right now. The fact that it includes me responding incorrectly to something she says also shows how important AAC is for people who don't have reliably intelligible speech---she needs a way of clarifying what she says and she also needs a reliable communication method to use with people who won't understand her speech (or when her speech is difficult to access, like when she's tired). Because of this need for AAC, it's important that we keep modeling, so that she keeps her skills up to par, learns where new words are, doesn't forget the locations of other words, etc. It's much easier to drop the modeling ball when Maya herself is favoring speech---but we can't let ourselves off the hook, not if we want her AAC vocabulary to stay solid (and expand!). 

Thursday, June 1, 2017


So, here it is. The update 8.5 years in the making. 

Back in December, I received a message from a blog reader inquiring about a particular syndrome, and whether Maya might have it (this happens from time to time). She was very nice and explained that Maya looks a lot like a relative of hers, who was recently diagnosed with a rare syndrome. (You may remember that our first exome sequencing was conducted in 2012 as part of a research project. At that time they identified a gene mutation as a possible causative issue for Maya, but we just filed that information away since there was no associated syndrome----yet. And then I intentionally pushed it to the way back of my mind and grew to mostly really enjoy being undiagnosed-ish.) After receiving this email, I dug back in my paperwork from our exome sequencing and found that this reader was naming the same gene that our research team had highlighted as probably-noteworthy-but-too-new-to-really-know (MED13L). 

Fast forward to March, when we met with a new geneticist who happens to be connected to a group conducting research on this gene (actually on a whole group of genes, including this one). She re-ran our genetic sequencing (since the first sequence was done as part of research it wasn't in Maya's clinical file) and last week we found out that this round of testing confirmed the earlier result. Maya has a genetic mutation on the MED13L gene. The test also confirmed that this mutation (one little t nucleotide that should have been a c) was de novo, meaning that it was a chance occurrence (Dave and I were also tested and neither of us carries that mutation).

And so, Maya now has an official medical diagnosis. She has a rare genetic syndrome called MED13L syndrome. The information about this syndrome is pretty limited. There seem to be around 100 people (maybe? maybe less?) worldwide that currently carry this diagnosis, and it's rare enough that it's not even included yet on this list of rare diseases (interestingly, the criteria here for "rare" is 200,000 diagnoses or less, so 100 people is like . . . wow). As whole exome sequencing becomes a more common practice for children with unknown genetic conditions, we expect that the number of people diagnosed with MED13L syndrome will increase. 

Right now, the disorder is only characterized by people who have been identified with the condition. While some of the characteristics that currently define the disorder are a match for Maya (for example, speech problems and ataxia--lack of balance) others are clearly not (for example, she does not exhibit short stature or have a cleft palate, and she has recently revisited a cardiologist and had bloodwork done to confirm that we have no concerns regarding cardiac malformations or leukemia). 

If you think about the people most likely to pursue non-routine comprehensive genetic testing, many of them fall into a few categories: a) those with younger undiagnosed children, who may have access to this newer testing in a more routine manner (when Maya was tested, microarrays were a common last genetic step---now, it seems that exome sequencing is routinely offered to some), b) those who have older children who have continued to pursue non-routine genetic testing or follow up regularly with genetics, and c) those who get an email from a blog reader suggesting it. (I think that third category is pretty small). To that end, we don't expect to gain a lot of information about prognosis----because many of the children are young, and the older diagnosed individuals could disproportionately represent the characteristics of the condition. Basically, the data set is small, and small data sets are shaky.  

Also, we don't know if any of these individuals have had access to the communication and writing technology that Maya has been immersed in from toddler-hood (clearly, we would never have known how clever she is without her ability to write and talk with her device . . . and that lack of knowledge would have impacted her educational opportunities and general life path). What we do hope to find out from other families is possible medical information---what medications work well in our children, which don't, whether there are any complications to look out for, etc. And maybe to makes connections with a new community, too. 

It's interesting to have a diagnosis after almost 9 years of not having one. In the beginning the diagnosis seemed desperately important, but at some point I really grew into being "undiagnosed"---I liked the absence of labels, the fact that no one could google a disorder and somehow think that they knew Maya, or what she might be capable of, based on an online blurb. I'm truly grateful for those undiagnosed years. So . . . bittersweet, I think. Or maybe not even all that meaningful. I'm not sure yet. I've got a lot to learn about, and a lot to process---and I'm sure that I'll share more about all of it as it unfolds, in time. But for right now this transition---this end-of-the-undiagnosed-ness--- it feels like the end of a chapter, and there's something to be said for finishing a chapter and turning the page to start the next one.

(Image is a montage of photos from Tuesday, Maya's 9th birthday, including: Maya and Will blowing out the candles on her cake, Maya and Will in her classroom for a special lunch party, Maya and Will sharing a hug, Maya smiling at a present, and Maya gazing happily at her new nutcracker)

(Image is the typed word "Undiagnosed", a blue marker has crossed out the "Un" and added a the date of our official diagnosis underneath, 5/25/17.)