January 02, 2008

Noa is in the New York Times!

There was an article in Friday's New York Times (Dec 28, 2007), it explains a little bit about Noa's condition. Plus there's a nice picture of her!

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The DNA Age
After DNA Diagnosis: ‘Hello, 16p11.2. Are You Just Like Me?’

Read the article.

The reporter, Amy Harmon, has written a number of articles about DNA and the social effects of DNA testing. It was really interesting to be a part of this process. Read more of Amy's articles.

January 2, 2008 in Noa | Permalink

October 09, 2007

On Noa's Fourth Birthday

By Meryl Perlson
October 9, 2007

Today is Noa's fourth birthday.  She doesn't understand what a birthday is, or what it means to be a year older, or why there are candles and cake and people singing.  She has no idea why she's getting presents and wouldn't complain, or even notice, if none were given.  But last night when we set a candle in front of her and sang to her she smiled and giggled and seemed to understand the fuss was all about her.  Compared to her first birthday, that's huge progress.

On this day four years ago I thought I was the luckiest woman in the world.  After years of infertility, I was on the verge of giving birth to my much longed for second child.  Compared to the agony of struggling to conceive, unmedicated labor was a breeze.  When I held Noa in my arms those first few minutes, I was overwhelmed with gratitude.  I knew how blessed I was to finally come out from under the black cloud of heartache and anger and helplessness that is infertility to hold my beautiful, healthy, amazing baby.  Looking back now I realize the true blessing of that moment was my ignorance.  The bliss of prayers answered was just a brief respite of joy before the next dark cloud moved in.

Noa's birthdays bury me in unmet dreams of what life would have should have been like for my beautiful daughter.  At four years old, Noa's list of "can't's" is huge.  Can't talk.  Can't sing.  Can't tell us why closed doors enrage her.  Can't tell us what's wrong, where it hurts, what she needs.  Can't hop, can't ride a trike, can't blow out birthday candles.  Can't play house or princess or pretend.  Can't understand time or seasons or anything beyond the level of a two year old.  Can't understand what a friend is, let alone make one her age.

It's a waste of energy, I know, to dwell on these losses.  They are imaginary.  The gene responsible for Noa's condition made its random replication error early in my pregnancy.  Noa was never going to achieve any of the things I mourn.  She has always been herself, fulfilling her utmost potential.  This other Noa - the chatty one, the clever one, the one playing dress-up surrounded by friends - exists only in my mind.  Noa doesn't know this person, she doesn't miss these things.  Ignorance, once again, a blessing.

And what about the things she has achieved in her third year?  Noa has emerged from behind a fog to be fully engaged with the world.  She has started school and gets excited about it every day.  Her teachers and therapists adore her.  She's learned to put away her belongings, to sit for circle time, to use her picture schedule, to open her lunch containers.  She has learned to use the potty!  Noa knows twice as many ASL signs as she did a year ago, and can sometimes voice her thoughts with a special computer.   She can count to five on her fingers and reads numbers 1 through 10 and the entire alphabet.  She can write a messy but legible version of her name. Noa recognizes "her" people now and greets them with huge smiles.  She hugs, she kisses, she signs mommy and daddy.  And if she has an opportunity to make us laugh, she'll do it over and over.  It turns out that Noa, at age four, is quite the comedienne.

So I bake the cake and wrap the present.  I mourn the lost dreams and embrace the new ones.  I try to remind myself, Noa is happy.  She may not understand birthdays, but she is happy.  She may not understand presents, but she is happy.  She may not understand she is four years old, she may not be able to blow out the candles, she may not know how to unwrap her presents, but she knows that we are singing to her.  She enjoys the attention, the cake, the gifts.  She is happy, she is loved, she is as fulfilled as any four year old can be.  And so, we celebrate.

October 9, 2007 in Family, Noa | Permalink

July 18, 2007

Katy Is Going to Camp With the Ravens as Their Little Cheerleader

The little girl in this article has a genetic syndrome similar to Noa's, and she communicates using Augmentative Communications devices similar to what Noa is learning to use.

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Cheering Section

Katy Is Going to Camp With the Ravens as Their Little Cheerleader
Published: July 15, 2007

Katy Marchman, a 9-year-old Ravens fan from Bel Air, Md., has Angelman syndrome, a rare genetic disorder that affects the nervous system and causes frequent seizures. As a result, she communicates mainly through pictures and gestures.

Read the article.

July 18, 2007 in Noa | Permalink

June 26, 2007

I Want Eat Chips

By Meryl Perlson

"I want eat chips" doesn't seem like a monumental request from a 3 year old, but when my daughter spoke those words a few months ago it was a milestone. You see, Noa is non-verbal. Though she can communicate via gestures and a few signs, we had mostly relied on educated guesswork to meet her needs.  So when Noa asked for chips -- via a voice output device -- it was cause for celebration.

Noa has as a rare genetic disorder called Phelan McDermid Syndrome (aka 22q13.3 Deletion Syndrome) whose main characteristics -- including severely delayed or absent speech-- have also led to a PDD-NOS diagnosis. Noa also has motor and developmental delays.  Despite these challenges, Noa has good receptive language and visual memory, and is a sweet, social, adorable girl. 

We were first introduced to Augmentative and Alternative communication (AAC) by Noa's Early Intervention Speech Therapist (ST).  AAC is basically using a means other than speech to communicate, with options ranging from signing to picture communication to assistive technology.  I was afraid that teaching Noa an AAC system would discourage her from speech, but the ST assured me that when kids start communicating with AAC, they become more motivated to communicate other ways. 

We began by teaching Noa some signs, but her poor finger control was limiting.  So the ST added picture communication.  She photographed (or googled) images of Noa's favorite toys and created 3"x5" laminated cards.  Noa knew how to point, so she was prompted to point at one of two cards to choose a toy. At first she either refused, or was unable, to do this.  But often she would gaze intently at a choice, and the ST built on that until, over many months, Noa progressed from eye gazing to pointing - unprompted - at her preference.

The SLP also tried PECS (picture exchange communication), where Noa would have to exchange a picture of a toy for the item itself. The term PECS is often used generically for any picture communication, but it's the exchange that makes it PECS.  It's a great system for kids on the autism spectrum because it promotes interaction, but it wasn't great for Noa.  She would eagerly interact by offering the picture, but only after she had crushed it beyond recognition.

We made an appointment at the Augmentative Communication Program at Children's Hospital to evaluate Noa, and in the meantime, Early Intervention arranged for a consult from the Regional Consultation Program (RCP).  The consultant made several suggestions: we should move Noa from a photo to an icon-based picture system (like BoardMaker), increase the number of pictures she chose from, and get her comfortable with smaller images.  We should also teach her to push a button to play a message.  All this would prepare her for the next step, a voice output AAC device.   

Noa made good progress learning icons and was soon choosing from a field of four small ones. The ST also made "topic boards," a page of icons related to a single activity (ex: her bubbles topic board had "blow," "pop," "big," "more," and "bubbles"). We encouraged Noa to spontaneously request and link icons during play (ex: "more + bubbles").  To practice voice output, we got a "talking photo album" and recorded short messages for each photo (ex: banana = "I want banana"). Unfortunately, she had a hard time with the small buttons.  We had more success with a Step By Step communicator (loaned to us by the RCP).  This device is a big button which records one or many short messages.  They play back in order, so we recorded sequential things like the verses of a song or lines from a story book.  At the appropriate times we'd encourage Noa to push the button to join in.  She caught on quickly, and seemed to like adding her "voice."

Up to that point the ST had made Noa's AAC materials, but we realized it would be better if we could make them ourselves.  We decided to purchase the $300 BoardMaker software but got lucky when an ST loaned us an older version (you can sometimes find these, or sample icons and topic boards, online).  We already owned a printer, and a friend gave us a laminator.  I stuck velcro on some foam core boards and soon had several 8"x11" "communication boards" to display icons and topic boards.  The ST taught me to put frequently used icons in the same place on every board, and color code icons (nouns = pink, verbs=orange, etc…).

It was a challenge to keep things organized and we owe many thanks to another 22q13 mom.  She suggested keeping everything in a binder with dividers for each category (people, toys…).  I used clear plastic sleeves to hold the boards and ziplocks to hold loose symbols.  Another method is to create a single communication center to display everything, or even smaller communication centers for every room in the house (or car). For outings, I used a coupon purse. I filed icons in the pouches and hot glued Velcro on the back to display them.  I've heard many great ideas: magnetic paper instead of velcro, placemats with meal-related icons, icon key rings and bracelets.   I've seen teachers "wear" icons on oven mitts, vest, aprons and hats and add icons to storybooks. Great ideas can be found online at places like the PACT yahoogroup, or www.lburkhart.com or do2learn.com.

Noa's evaluation at Children's was next.  During the initial two hour appointment, the team tested Noa on different AAC systems, even using her fixation on a file cabinet key to motivate her to request "key" and "in."  After several additional visits, they recommended that Noa continue with her current AAC strategies (signing, picture communication), and that she begin using an AAC voice output device called the TechSpeak.  There are several similar brands, all of which record and play messages for multiple icons.  They range from about $300 - $1000, and although Children's felt insurance would probably cover the TechSpeak, we decided to try the school system first.

At Noa's initial IEP meeting we learned the district already owned a TechSpeak and the Children's report helped convince them to provide it for Noa.  TechSpeak Device We made sure the IEP included AAC goals and specified AAC strategies for each daily activity (signing for playground; TechSpeak for meals).  The IEP also designated who would create icons and boards, who would program the TechSpeak, how often this would happen, who would handle batteries and repairs, and who would keep the device near Noa.  We learned that neither the teacher nor ST had worked with an AAC device before, so we specified how often the district AAC "expert" would consult.  Even with this preparation, we ran into problems like the teacher not having access to a laminator or the right screwdriver for the battery compartment.  There was also fussing about Noa taking her TechSpeak home, but her IEP specified that she needed to generalize her communication skills, so home it came.

At school they used a reward system and discrete trials to teach Noa the TechSpeak.  She's great at scanning and selecting from up to 32 icons, and she is sporadic with linking icons.  Spontaneous communication remains Noa's biggest challenge.  Still, the very first day Noa brought her TechSpeak home she saw a bag of chips and made her monumental "I + want + eat + chips" request.   

Noa's TechSpeak is a great tool, but we are finding that she is often looking for icons that are on another level, and switching levels will often result in her losing the flow of action.  She's been learning to use a touch screen monitor, and based on continued evaluations at Children's, we're hoping she'll soon move up to a computer-based AAC device.  These "dynamic" systems allow you to quickly add and change icons, customize navigation, build learning modules, even remotely control the environment (ex: turning on lights). There are different brands (check out www.enablemart.com) costing upwards of $5000, so it's been important to test which is best for Noa.  We've done this at Children's, but some folks attend AAC exhibits, contact manufacturers, or find assistive technology resource centers (I've heard the DMR has several, but have no experience with them).   We are again working with the school system to provide the new device, a Dynavox V (available in pink!).  I believe Mass Health will also cover specific brands (with certain restrictions).  Most private insurance excludes coverage of computer-based AAC devices.

Two years ago, my biggest hope was that Noa would use her "yes" and "no" signs communicatively.   Thanks to AAC and a lot of work, she has far surpassed that goal.  It still amazes me when I can ask her what she wants to drink or do, and these days I look forward to her every word.

June 26, 2007 in Noa | Permalink