Jul 10, 2016

Summer Learning, Talking and Special Delivery Messages

It's been 2 weeks since my last post.  I've been hitting the letters hard with Ainsley. We have altered her routine. She LOVES to watch videos first thing in the morning (Netflix) so we started using our old DVD's instead. Anything with letters, phonics, word building etc.
  • Leap Frog (Letter Factory, Word Factory, Amazing Alphabet etc. they're all good)
  • Sesame Street  Do the Alphabet, All Star Alphabet
  • Animal ABC's
  • Your Child Can Read
  • Richard Scarry's Best ABC Video Ever
  • Martha Speaks
After a week or so of this she decided she'd rather play with toys than watch her morning videos. A result that is just fine with me. Now she's motivated to stand in her stander for "real" videos.

In addition to reducing and modifying her video time we started:
  • Daily review of the alphabet sounds with flashcards.
  • Interactive electronic book reading (tap words to speak) like Little Critters or Berenstain Bears  from Oceanhouse Media
  • Reading of our own personalized stories that I made with Pictello.
  • Nightly reading of (actual paper) books using modeling with our new AAC system
  • Daily writing practice with writing/tracing or phonics worksheets (workbooks)
  • alphabet activities like: this, thisthis, this or this
  • playing old Computer Games on my sister's old laptop (Pooh, Clifford, Richard Scarry, Franklin, Madeline, Little Bear etc.), she's got great mouse skills
  • IPad games like: 
For awhile that was great but now she's back to sneaking her favored games like Cut the Rope or Clumsy Ninja. I have to watch her closely and not get distracted which is easy for me to do. I'm probably going to have to look for some new materials to keep things fresh.

I think the work is paying off. She appears engaged and interested most times I work with her. 

We've seen some super exciting attempts with the AAC at long sentences after modeling them that way. She may not use the correct verb and word order but they are LONG, like the 10 word sentence below that SHE MADE BY HERSELF (The word I was there but it was too long to fit!) after talking with Steve, while I was finishing cooking dinner.

Earlier in the week during meal time she used the following phrases and her message was pretty clear! There is no question that she understands exactly the purpose of these phrases.

Today she got out her AAC device and brought up the word Disney Infinity and tried to copy it onto a piece of paper (D, then Infnty it's hard to read because it was written on some dried glue from a previous "project") which she then brought to Steve out in the garage to lure him into playing with her.  Of course we had to reward her with some DI time for her efforts! She was so proud and so were we! This looks like the beginning of writing at a new level!

A video showing one of the personalized book I made with Pictello (DisneyWorld 2015). 

We haven't had as much fun as we could but we did manage to get the kids to see Finding Dory and that was on Adrian's summer to-do list.  Evie and Adrian are off to camp today. Adrian was picked up by a friend and will be at Camp Colman for a week, returning just in time for his 13th birthday!

We made the road trip today to take Evie to camp. Sadly Evie's childhood friend chose ballet camp over horse camp this year but Evie still wanted to go. I'm proud of her for taking a chance and going anyway I hope she has a great time! Ainsley did awesome navigating the gravel trail in her walker!

Steve and I are very a bit jealous of these kids and their wonderful annual camp experiences! They've been going since they were SEVEN. 

It feels weird to have them gone but of course we still have Ainsley here. She goes to Camp Korey in 2 weeks. She is so excited! She had SO much fun last year! If you click on the link above you will see a picture of her riding on a horse on their website. 

I'll leave you with some recent photos of the kids that I took on the 4th of July. Hope you're having a great summer! Hopefully we'll get some sun soon here in the Pacific Northwest. 

Jun 25, 2016

Ainsley "Reading"

This post is a follow up to my post Schools Out For Summer. I wish! That's a metaphor, it has been 10 days since our last day of real school. However this summer I am running my own "summer school". I am working with Ainsley on literacy skills and AAC since I will have larger blocks of time with her. Why would I do this? Because after years of "literacy instruction" at school my 9, nearly 10 year old cannot read. Not even simple words like "me" despite having a 1:1 aide, an extensive IEP and daily time in the General Education setting since Kindergarten as well as a pre-school program before that. Sadly I think the school's goal is that she learn to read and communicate by the time she graduates High School. That is aiming way low. Let's presume competence give her good instruction and see what happens!

I think the intentions are good but the methods are the issue.The school's literacy curriculum (for special education) is not defined, it is not complete and has consisted primarily of picking the correct word from a field of three.  I think they hoped this activity would prepare Ainsley for reading since she would be recognizing the sounds in the words. I doubt this method would be sufficient to teach a neuro-typical child that is fully physically capable. It's certainly not engaging or fun (isn't engagement proven critical in learning) and though it's a way to collect data it isn't a very good method of teaching. Ainsley did not receive the same literacy instruction a typical child would during Kindergarten and 1st grade and beyond. Children like Ainsley need MORE than the normal instruction not less.

It seems the school thinks I should be happy with her "progress" because after several years of letter ID and this field of 3 activity she can now pick correctly 20-24 out of 26 times, an improvement from when she first started this activity.  Since Ainsley is non-verbal it is difficult to assess her level of understanding and they would like to believe the data they are collecting means she is close(r) to reading.

I wasn't convinced so prior to Ainsley's IEP I did an assessment of my own. It is far more accurate than their method and it shows pretty conclusively that Ainsley is not even close to reading site words or anything else. I'd forgotten that I'd recorded it, but happened to find it today after I'd been working on some literacy skills with her. I want to share it to show just how misleading field of 3 selection is, since for a child without the understanding of letter sounds and phonics it is literally nothing more than guessing. Prior to this video she got nearly all of the cards correct when choosing from a field of 3 but unfortunately I didn't film that and later she was too tired to perform as well. Toward the end of the video you see how she is able to identify the words with AAC when given oral instruction. Although this video shows Ainsley clearly cannot read I think it also shows that she is capable and interested in learning to read! 

Teaching her to read will be more difficult because of her CH and her dependence on AAC. That is the second piece of our efforts this summer, AAC skills. This year I researched AAC apps and equipment after having an AAC evaluation by a qualified SLP at Seattle Children's Hospital in December. The assessment was validating, confirming an IPad was likely the best choice with a bluetooth speaker regardless of how it was "funded" (IPads can be purchased by insurance as a dedicated AAC system).  The SLP wasn't able to make the decision on which app to use. After waiting for one company to put out a major upgrade that was supposed to be released in March but never came we sought input from the school team and settled instead on Gateway for ProLoQuo2Go a vocabulary design made by SLP Joan Bruno that runs in the ProLoQuo2Go app. It's loaded on a full size IPad as well as a mini and I plan to design a mini version for my cell phone for emergencies. There a lot of factors that went into the decision that I hope to write about in greater detail in the future.

I think it was a good decision. I have learned no system is perfect. Each has advantages over others. I had some work to do with equipment and customization but we made the switch in May so school staff could familiarize themselves with the new features of the app and hardware in the last month of school so it isn't all new in September. I've been working hard to finalize the vocab and hope that with a combined approach on both literacy and AAC we will see some real gains over the summer. We will be meeting at the end of the summer to amend the IEP and my hope is that the school staff will receive some instruction on Aided Language Input (aka. Aided Language Stimulation or ALS, or modeling) so they can incorporate that and other practices throughout the school day to increase Ainsley's ability to communicate and thus access an appropriate education.

In the mean time we will keep on keeping on doing what we can while still trying to have a fun summer. Wish me luck. We'll need it.

Jun 18, 2016

School's Out For Summer! I wish.

Having 3 kids in 3 schools can be difficult to manage and by the end of the 2015-16 school year it became overwhelming. Ainsley had her annual IEP meeting scheduled and I advocated for a literacy program with phonics geared toward non-verbal AAC learners (on the recommendation of an AAC specialist and yes programs like this do exist) as well as increased AAC support and training (it's a specialty). In addition we implemented a new AAC system. I lost, but the fight advocating isn't over. Things were going on at Adrian's school and I ended up being elected onto the PTSA board as well as needing to tie up loose ends as Photography Chair for the year (which is still not done). Evie despite doing well first Semester had a particularly bad grade and missing work that needed attention and I had to get her some help since High School Grades are for keeps. It was like I'd wandered into the Bermuda Triangle of education and was sucked in.

Looking back I'm sure as a child I had Inattentive Type ADHD, I really struggled to complete tasks and am easily distracted by new ideas and thoughts or external stimuli and still am. Managing my time has always been a struggle. I wish that someone had helped me because I could have done a lot better in school with more support. Because of my experience it's really important to me that my children do well in school. I want them to have the best opportunities to do what they want in life and a good education is the foundation.

Most people fully understand this for my two neuro-typical children but I want this for Ainsley as well.  People with Intellectual Disabilities (ID) have historically been underestimated. It wasn't that long ago that people with ID were not permitted to go to school and parents were fighting simply for the right of their children just to be allowed to go to school. In 1973 FAPE happened and things began to change, you get the IDEA. Although things have improved there is still a great degree of difficulty in teaching, assessing and serving the needs of non-verbal students. This is something that I want to see change. The better an education a person with ID receives the more they will have to contribute to society. We must aim high not low.

I personally believe that all non-verbal students should be taught to use AAC devices as young as possible. In early special education this is a lot of students. I believe that some of the behavioral problems we see are related to a child's frustration with being unable to express him/herself. Imagine having no way to express your thoughts feelings or desire and the loss of control that would come with that. In addition when a child has no way to express what they know or inquire about what is going on around them they lose lots of opportunities to learn along the way, every single day. That can lead to a compounded affect as well as holes in their learning.  I could write more on this idea but Emma, a non-verbal young woman with Autism did that so well here in this article.

When Ainsley was very young I believed that she would speak. She had a tracheostomy which impacts the ability to vocalize because of the redirection of air flow. What took me some years to figure out is that her brain condition, Cerebellar Hypoplasia, affects the bodily capability to make speech. (Though many CH patients do learn to speak but may be difficult to understand.)  The Birth To Three School started her on PECS cards when she was still 1, we moved to a switch and then later a simple Go Talk device before they provided a Vantage and full support with a specially trained SLP when she moved into the Seattle School District at age 3. She steadily made progress with each new system. Later an IPad with TouchChat when we moved to Redmond, then a NovaChat dedicated device in 2012. Along with Ainsley I learned. I took on some of the programming and eventually did all required customization for the school when our insurance bought the NovaChat.

We had been previously teaching Ainsley some sign language which was also difficult for her because of her challenges with motor skills. For years she'd been signing "all done" with a single hand because a nurse(T) taught her that way, and we thought maybe she was stimming (though she doesn't have autism). Poor kid. Having a child that is non-verbal is difficult. We play a lot of guessing games and fill in the blanks. Really she is quite patient with us typical learners who don't always recognize what she tries to communicate to us non-verbally.  Back then, in addition to speech/vocalization/AAC/ASL we had feeding issues, a trach to care for, surgeries, OT, PT and educational goals.  We did our best to juggle all these but I know that if we'd had a better plan Ainsley would be much further along in her ability to use AAC. There is no doubt in my mind that the ability to communicate more complex ideas with AAC would also equate to greater learning and abilities. Who knows what she would be doing right now if she had been taught to fully communicate with AAC years ago. 

Luckily in 2014 an SLP specializing in AAC (from an on-line support group) was determined to convince me that Ainsley should be using a word based system instead of phrases. I thought the buttons would be too small and the number of words would be overwhelming, especially considering her use of the current phrase based AAC system was minimal. I thought she wasn't ready.  Then I learned that things had changed in the world of AAC and word based systems were recommended by SLPs Specialists for nearly all AAC users because when the user learns these systems they can communicate for a much larger variety of purposes and say things that are important to them. A limited phrase based system can only be used for limited communication.

Even with a robust word based system often well intentioned adults ask AAC users to say things that are not motivating and obvious like: The dog is brown. The girl is happy. or I am hungry (when they may not be). Using AAC takes time. It takes a lot of effort for a child with physical disabilities who cannot read to find and push the buttons. The child has to feel that it is worth their effort, that is human nature. That means we need to believe learning AAC is worth the effort and prove it by leading by example. If the neuro-typical adults find AAC too difficult and time consuming to use for simple sentences, how can we possibly expect it of an Intellectually Disabled child who can't read, who has to teach herself?

Having a good AAC system (hardware and vocabulary) is just the beginning. Then, like any other language it takes exposure and practice. Lots of it. School is the ideal place to use AAC. It is a content rich environment with opportunities for meaningful AAC use all day long. Specialists in the field of AAC know this is critical. My hope is that I can get the school district, school and staff to understand the importance and that they will willingly step up to do their part with consistent modeling or Aided Language Input because they care about Ainsley's success as a student.

Unfortunately there is not a standard curriculum in special education nor agreed upon standards for teaching AAC across districts. The importance of the IEP cannot be overstated, particularly for the children with high needs. In isn't easy to teach literacy to a child who is non-verbal. It also isn't easy to use an AAC system when you can't read. We want to break this cycle and unlock Ainsley's world. Unfortunately I also learned this year that if all the details aren't spelled out it in the IEP it can lead to miscommunication which can have a negative effect on the relationship between parent and school.

We will be meeting with the school at the end of summer to try to get things sorted out. In the mean time I am going to be doing what I can to teach Ainsley both AAC and literacy skills myself while still trying to have a "fun summer". I see in my on-line support groups other moms doing similar things over the summer, creating a "summer home school program". I'm not alone. This is the way it is for families like ours. Summer is an opportunity for surgeries or catching up on skills. For us it's not all about fancy vacations. The far away destinations are walking, talking, reading, writing, eating etc. It was only a few summers ago I was on a mission to get Ainsley eating orally.  That was tough but it beat spending the summer (with the 2 other kids in tow) at the hospital in an intensive feeding program. That work paid off and these days she does so well eating. It was so hard-won that I still find myself watching her in amazement like I did on the first night of summer as she enjoyed her meal and then cake, a previously hated food.

As we sat at the dinner table she shrugged, her "sign" for "I have a question". I've been trying to use opportunities like these to direct her to ask a full sentence with AAC. I knew she'd heard us talking about how Evie and Daddy were in a rush to leave for Evie's vocal lesson. She pushed the button for mommy and I showed her (modeled) the sentence below and then verbally coached her through it the second time, and by the 3rd time she was able to do it by herself. The more we do this with her the faster she will learn. She loves being able to ask a question to get information. Just like everyone else.

The last day of school was our busdriver's last day. He's retiring and will be missed! We gave him the "Best Busdriver In the World" award (it's inscribed on the copper tag), a flower statue for his garden made from a recycled school bus. It happens that yellow is Ainsley's favorite color.
I hope he thinks of her when he sees it.

We made him a card. The drawing we did with hand over hand support and some verbal instruction. Last school year the school wasn't working on handwriting and had keyboarding goals instead. They bought her a stamp for her name instead of teaching her to write it. Despite the doctor agreeing with them that perhaps it was too difficult (which angered me since I'd seen how well she did tracing) I pushed for it in the IEP and asked for tracing homework. Look what she's been able to do with practice! See the name Gene? She copied that with no help. Her name she can write from memory now after writing it together on her homework every night using a model I made. And the rest of the writing she did with hand over hand support for letter positioning. 
I'm so proud and so is she! 


Don't you agree?!

May 12, 2016

A Good Mother

A belated Happy Mother's Day to all my mother friends and readers! I've been feeling bad that it's been so long since my last post. I'd intended to write a nice post prior to Mother's Day but my "mothering" duties prevented that from happening. There have been some challenges this year but we're doing okay. This year on Mother's Day I made my kids suffer through a photo shoot since I know it is something I won't otherwise take the time to do and they would complain loudly on any other day. I hope you enjoy the pictures and that you had a wonderful day spent just the way you like.

I was going to write about what it means to be a "good mother".  This is something moms care about even after Mother's Day so here goes. Better late than never I hope.

Every woman I know who is a mother or acts as a mother wants to do a good job. There are so many ways to parent and tasks to juggle that we can sometimes be left wondering how we are doing. I know I do. I'm going to share a little secret ritual I have. It might seem a bit silly but when I'm feeling a bit down about my mom job or off target (we all have those days or weeks don't we?) I sit down with breakfast on a special plate I have and reflect. Since I often forget to eat breakfast, or eat standing in the kitchen while doing chores which is hardly any better, this ritual is in part about taking care of myself too.  What makes the plate special is that it has a message on it that simplifies the mission of this difficult job of mothering into an ideal that is easy to understand, "A Good Mother Makes a Happy Home." That's it. Simple.

That's not to say that I believe it's the mom's job to make everyone else happy.  It is also true what they say "If Mamma 'aint happy, 'aint nobody happy." but taking a few minutes to recharge with food and think about my intentions while I manage the affairs of my home and children's lives, as increasingly busy and complex as things are in these times, helps me get back on track. This plate was made in 1979 when life was a whole lot simpler, but I find it's just as true today, a simple barometer so to speak. Is your home a happy one? Ours is sometimes and sometimes it isn't. I use this ritual is a reminder when I need it. You can find these plates from time to time at thrift stores.

Of course you don't need a plate to reflect about whether your home is a happy one. And how you go about making a happy home may be completely different from how other people do. It's about looking at the things in your life that you might want to change. Lately I am trying to listen to what my emotions are telling me. They too are a barometer, one that is with us every minute of every day. Often we ignore our emotions but they have important things to tell us about whether our spirit is satisfied with the way we are living our lives.

This year has been a hard one. My birth mother passed away too soon from kidney failure as a result of acute pancreatitis. Her birthday was also in May, right before Mother's Day.  I miss her. As an adopted child I also missed the chance to grow up with her. My childhood home wasn't exactly a happy one. For a long time I have been searching for the answers to what it means to be a good mom. When my time here on earth is over my greatest wish is that my children will remember me as a good mom. To me that means we had a happy home together, and also that they know in their heart of hearts that I loved them unconditionally.  I know they will also remember me as someone who tortured them with a camera. So be it. I can live with that.

Mar 10, 2016


My single most favorite thing for the computer is the Snipping Tool, a super fast and easy way to capture images off your computer screen for all kinds of purposes. I use this ALL THE TIME. (A huge thank you to the person who told me about it! You changed my life!) The Snipping Tool comes free with Microsoft Windows. If you haven't heard of it, trust me you want to pay attention. What might you use it for? A million things, but here are some ideas:
  • to capture part of an image to paste into an e-mail (kids wish lists for birthdays, items you are shopping for or design ideas that you want to e-mail to your spouse or friend,  etc. )
  • to capture a portion of a Website as an image for sending feedback or ask a question
  • to copy a portion of an e-mail or text document and then highlight parts of it
  • to capture a face out of a group shot to use for your Facebook profile (or for an AAC image)
  • to copy part of a Facebook post to e-mail to a friend who isn't on Facebook
  • to make a quick edit, like cropping for posting online
  • add to an AAC symbol or clipart to make a different symbol that doesn't exist
  • to capture a page from your AAC device to e-mail, post online or print for a low tech version
  • to quickly capture an image and black out portions for privacy before posting on-line (name and/or medical ID's, school name etc.)
  • to capture a portion off your computer screen like an error message
  • to capture portions of a screen for creating "how to manuals" 
It's probably already installed on your computer. Not sure? Type snipping tool in your search bar.

If  it doesn't easily show up, check on the Microsoft website for your operating system (how to access it is slightly different in each OS). I have the Snipping Tool pinned to my Start bar because I use it that much!

1) First make sure the image you want to capture is visible on your screen before opening the snipping tool otherwise you won't be able to get to it.

2) Click on the scissors icon or open the Snipping Tool and click New. It will default to the type of snip you last used (unless you click on the arrow to open the other types). 

Most of the time you will probably use the rectangular snip but there are other types of snips. Window snip is for one window when you have multiple windows open and you don't want all of them, and full-screen is, well....your full-screen, which I rarely ever want and why the Snipping Tool is so much better than just using the "print screen" button.

Free form is like a real pair of scissors, see image below.

These snips can be saved as .JPGS or also can be saved as a .PNG file. This is important because it allows the image to be oddly shaped (not rectangular/square) without filling in the background so it can be use in other computer programs (Think digital scrapbooking or using in an AAC device when you want another background color for your button. Or for pasting the face of one person onto someone or something else, like for example maybe Trump's face on a donkey). 

3) Drag the X cursor around the portion of the screen you want to capture. When the bounding box is surrounding the portion you want let go. Didn't quite get it perfect? That's okay, just click new to try again. Congrats, you've now captured your snip. What now?

4) If you want to make edits click on one of the tool icons or Tools button, if not skip to step 5.

In addition to the standard red, blue or black pen you can customize the pen color, thickness and style in the drop down menus, shown below. There is also a highlighter. If you make a mistake with any of these use the eraser. 

Examples of Edits

This snip shows LtoR second row from the top: the "a" whited out, "to" highlighted, "the" with black legs and eyes (modifying a symbol), and a pink circle.  I made these just so you can see all in one image, but actually I kind of think I like the spider "the" and might use that.

All of these type of edits are super quick and easy to do! I promise!

5) When you are ready to use your image you can either save, copy or e-mail.

Save will open a dialogue box where you can choose the location and file type. 

Copy, then right click to paste the selection into another already open program like e-mail, Word or Photoshop.

To start an e-mail click the e-mail button and the snip will be inserted as an image in the body of the e-mail.

Curious what the "Delay" feature is all about? It's for capturing menus that disappear before you can snip them. A video explaining how that works here

Here is an example of a document I created for school using Microsoft Word and the Snipping Tool (and of course our AAC Editor). It's Ainsley's "Daily Write" that tells us about her day at school (since she is non-verbal and can't tell us herself). It helps her to learn the AAC symbols, reinforce date concepts and emotions (which has not been successful because she ALWAYS circles happy). She was also working on "circling" which you can see she's pretty much mastered now.

I hope you find a bunch of ways to use the Snipping Tool! 

Feb 29, 2016

Rare Genes: Cerebellar Hypoplasia

The last day of February is Rare Genes or Diseases Day, usually that's the 28th but 29th on Leap Year, so today we are supporting the cause Wear That You Care by wearing jeans to spread awareness about rare genes. Around our part of the world no one notices if you are wearing jeans, we're pretty casual here on the West Coast.  If I were better organized I'd have bought a pin that says "Cerebellar Hypoplasia" for each of us to wear, but the truth is Cerebellar Hypoplasia is so rare that I don't think they have pins for it.

I had a normal pregnancy but toward the end I was carrying rather large. Concerned I was having a large baby after 2 big(ish) babies and difficult deliveries my OB sent me in for an ultrasound. I was 8 months pregnant when I received the shock of my life. The imaging showed that our baby had something wrong with the shape of it's head (we didn't yet know if she was a boy or girl). Welcome to the world of rare diseases, a world I previously had the luxury of knowing nothing about.  All my life I'd believed that birth defects are the rare exception and "healthy babies" are the norm.  We tend not to talk about it and when it happens we are shocked. When we start talking about it you realize it's a lot more common than we realize.

When it does happen we understandably look for answers. Sometimes there are answers but sometimes questions just lead to more questions, as I would find out. Ainsley, at that ultrasound, appeared to have what is called craniosynostosis a condition we would discover is both rare but not terribly uncommon depending on your perspective (we started hearing stories of kids with craniosynostosis from all kinds of people after Ainsley was diagnosed with it) There are a number of syndromes that include craniosynostosis but it can also be "isolated" (appear alone as the only condition). And so we proceeded with an amniocentesis hoping for more information. The results showed a Balanced Chromosome Translocation. People think that it is rare but it's really not except that Ainsley's particular translocation hasn't been seen (that doesn't really mean anything either). Steve and I had our blood drawn to see if either of us had it, since Balanced Chromosome Translocations can exist without our knowledge with no symptoms what so ever. Neither of us had it, and so it was pronounced that Ainsley's translocation was "denovo" (new). The karyotype is 46,XXp(1;7) (p22;q31.2).

Reciprocal translocations are usually an exchange of material between nonhomologous chromosomes. Estimates of incidence range from about 1 in 500 [1] to 1 in 625 human newborns.[2] Such translocations are usually harmless and may be found through prenatal diagnosis. However, carriers of balanced reciprocal translocations have increased risks of creating gametes with unbalanced chromosome translocations, leading to miscarriages or children with abnormalities. Genetic counseling and genetic testing are often offered to families that may carry a translocation. Most balanced translocation carriers are healthy and do not have any symptoms. But about 6% of them have a range of symptoms that may include autism, intellectual disability, or congenital anomalies. A gene disrupted or disregulated at the breakpoint of the translocation carrier is likely the cause of these symptoms.
So 8 months pregnant we thought we had a 6% chance of a birth defect and we already knew she had craniosynostosis. We learned all about the syndromes craniosynostosis could be a part of.  It was devastating. Having two healthy typical developing children I admit I thought "it couldn't happen to me." I held discriminatory beliefs that these type of things happened to different types of people than me. Birth defects occur across all socio-economic levels, to parents of all education levels, and is not an indication of drug or alcohol use or advanced maternal age. These factors can increase risk but often are not the sole cause. The truth is that birth defects can happen to anyone, but we don't talk about it because it's scary. Honestly though, I don't think there is any way to prepare for this. It's like getting in a car crash. We know it happens but always think it won't happen to us even though it happens to people of all types every day. Perhaps it's how we protect ourselves from fear. When it does happen we analyze and re-analyze any possibility that could have caused or prevented it.

The doctors couldn't make a diagnosis in utero. We were nervous but looked forward to the day Ainsley was born for the normal reasons but also thinking we would finally know what we were dealing with. Due to the insane amount of amniotic fluid I was told I would go into labor any day. That didn't happen so I was induced at full term. When Ainsley was born we were shocked to find out that she had stridor (noisy breathing) and she was quickly sent up to the NICU for breathing support. That would begin the search for a diagnosis about her airway. We thought it would be temporary and were devastated when the doctors were unable to diagnose the specific cause or treat it. She was transferred to Children's Hospital.

I was recovering from a vaginal birth to c-section (I spent 1 1/2 hours standing and pushing with no epidural before surgery) and Steve and I shared a cot in the parent rooms at the NICU. It was truly horrible. We were in shock and having to absorb a lot of new information very quickly.  She was put on a feeding tube (I knew nothing about them) and there was talk about a trach. (She was trached at 5 weeks and we would spend years searching for answers and solutions, traveling across the country twice to see specialists.)  Each day she saw more and more specialists. I noticed that she hadn't opened her eyes and was very concerned. Enter the head of ophthalmology, later a diagnosis of eyelid ptosis (fancy name for droopy eyelids, several surgeries followed). They sent in an orthopedist to inspect her and found hip dysplasia and began treatment in a Pavlik harness (she would later require surgery twice). My poor girl couldn't catch a break. Ainsley's craniosynostosis was pretty severe, likely the sutures fused early in the pregnancy and her forehead became misshapen (not just her skull) as her brain grew. The cranio-facial surgeon wanted CT scans to prepare for the first surgery that she would need when she was 3 months old. She was 3 days old when we learned by accident due to the scans that she also had a condition called Cerebellar Hypoplasia, so they brought in more specialists, a geneticist who wanted to enroll Ainsley in a research study (where her genes were analyzed) as well as his research partner, a top neurologist specializing in the field of hind brain malformations.

What was not reassuring during this period is that we saw the doctors Googling Ainsley's combination of conditions trying to determine if there was anything in any obscure medical journal about the combination of her various conditions occurring with other patients, in other words a syndrome. There wasn't. Cerebellar Hypoplasia can often occur with a rare syndrome called Dandy-Walker Syndrome. Sometimes CH will be characterized as Dandy-Walker Variant or Dandy-Walker Malformation. But none of these were quite like the appearance of Ainsley's brain. The CH is the most important of Ainsley's conditions. I searched out information about her condition on the Internet, finding more about Cerebellar Hypoplasia in cats (it occurs often in cats) than humans.

The doctors kept repeating something that drove me crazy, "Ainsley will teach us about herself." This is doctor speak for we have no freakin' clue.  We moved on with our lives dealing as best we could with rather extreme circumstances, all while having a 5 and 3 year old.  I combed the Internet searching for information, hoping that there might be another parent out there with a child with Ainsley's combination of "rare conditions" who might give me some insight of what to expect or even hope for treatment.

Would my child be able to walk? to talk? to eat? live an independent life? live a normal life expectancy? How long would she need the trach and feeding tube? No one could tell me for sure. We were connected with services and started receiving in home therapy when Ainsley was just 4 months old. I learned from these therapists and then spent countless hours teaching things that come naturally to other children: holding a toy, tummy time, rolling over, sitting, crawling, standing, pointing, turning pages of a book, pinching (fine motor strengthening to prepare for handwriting), eating, making sounds, sign language, PECS, AAC all on top of the medical needs (suctioning, tube-feeding etc), surgeries and normal needs of any child. Because she and the other two kids had those too. Those were dark times as I dealt with the feelings of grief over losing all semblance of a normal life.

During those early years I reached out to on-line support groups, for parents of children with tracheostomies and Cerebellar Hypoplasia. I felt comfort in knowing other parents were dealing with the same very difficult issues. I spent a lot of time looking up the conditions that were mentioned hoping that maybe it would help me figure out what was going on with Ainsley. Maybe find answers or a cure, or treatment. What I learned is that there are many many thousands of kids out there with thousands of different types of conditions. Some find the cause of the condition(s) and some don't.  Sometimes the conditions have been seen together before and so doctors have given it a convenient "syndrome" name that may help shed light on what we can expect by grouping these individuals together. I thought it would be easier if Ainsley had a syndrome so I might know what to expect. But then I also saw that kids with the same syndrome or diagnosis often vary in the ways they are affected and may not have some of the markers that are often seen with the syndrome or diagnosis.

In addition to Dr. Dan Doherty, the expert Ainsley had seen several times since birth we consulted with one of the top experts in hind brain malformations who relocated to Seattle a few years ago, Dr. William Dobyns. Ainsley's CH looks kind of like Ponto-Cerebellar Hypoplasia but for a variety of reasons isn't typical of PCH either. In light of Rare Diseases Day I thought I would share what his report says, below. Since then we befriended Dr. Andrea Poretti, a colleague of Dr. Doherty, another expert on CH who is active in our CH group.  He kindly reviewed her scan and agreed with the Dr. D's. These men have seen thousands of brain scans.  All agreed that Ainsley didn't neatly fit CH or PCH.
The gyral pattern was distorted by her skull shape, but otherwise appeared normal. I also thought her hippocampi, basal ganglia, thalamus and white matter appeared normal. Her third and lateral ventricles and corpus callosum also appeared normal. I saw mildly thin brainstem indicating hypoplasia of all 3 segments. The cerebellum was diffusely moderately small, with a striking up-rotated vermis and probably foliar dysplasia. The vermis was actually less severely affected than the cerebellar hemispheres. However, there was clearly no progression of the atrophy on serial MRI scans. This has previously been described as Dandy-Walker malformation; however, the preservation of the vermis in comparison to the hemispheres and a small posterior fossa size are both inconsistent with DWM. This has been compared to Pontocerebellar Hypoplasia or PCH, because of the relatively preserved vermis. However no progression was seen, so this also differs. Thus I believe it is best described as diffuse cerebellar hypoplasia with foliar dysplasia.
The label used for Ainsley's brain/cerebellum condition has changed several times over the years, above you see it described as Diffuse Cerebellar Hypoplasia with Foliar Dysplasia. I decided it is simplest to call it Cerebellar Hypoplasia. A lot of doctors aren't even familiar with Cerebellar Hypoplasia in it's simpler forms. Ainsley is rare among the rare. When you factor in her other conditions she is truly one of a kind.

I think there can be comfort in having a well understood condition. However, I've also come to the conclusion that it's not so bad to be rare, even if it sometimes feels isolating. Without a guidepost Ainsley can make her own path in life. We know it won't be easy but we keep inching onward, one inchstone at a time. We don't know how far she will get but we will try to enjoy the ride on the way to our destination. The doctors were right. Ainsley is teaching us about Ainsley. And really when you group all the people with rare diseases or rare genes together, it's really not so rare at all. Together we spread awareness, together we are not alone.

Feb 23, 2016

The End of an Era, or Is it?

For nine, going on 10 years we have had oxygen in our home. I still remember when Ainsley came home from the hospital in December 2006 and they told us they wanted us to bring home oxygen (and a whole ton of other stuff). They gave us a poster for the door so that everyone knew not to smoke in our home, and avoid flames of all kinds.  Of course I'd seen trucks driving down the freeway filled with oxygen tanks and warning signs all over. I was terrified to have this stuff in my home. Could we safely light our gas range? Have a fire? Burn a candle? What if our house caught on fire, would it explode? (The warning was supposed to be there for firefighters too.)

And Ainsley rarely needed it.  They wanted us to have it "in case". If it weren't somewhat dangerous I wouldn't have minded so much. For the first year I carried it with me afraid there would be a moment when we needed it to save her life. That never happened.  Eventually I found a tracheostomy support group on-line and I lurked silently gaining information about this crazy new world we'd been thrust into. Eventually I worked up the courage to post. It seems crazy to me now but my heart pounded as I typed and hit send those first times. The women there (sorry guys, but there were only a few of you) seemed so incredibly knowledgeable and they scared the shit out of me. But I quickly picked up on the fact that I would learn more from them than the countless doctors nurses and specialists we saw. 

One things I learned is that there are serious inequities in the medical system. That while we had oxygen and didn't really need it that there were people with serious needs for oxygen who had trouble getting coverage for it. Christamae was a courageous young woman with muscular dystrophy who was on a ventilator most of the time and confined to a power chair because of her limited ability to move. And she had trouble getting her oxygen. How could this be? And yet it was so easy for us? It was simply an insurance issue and I learned one of the discrepancies in the standard of care that varies across the United States. I learned there were a lot of such things. It made me angry. And in the case of oxygen it made me feel guilty for having something that we didn't really use.

What you might not know is that decisions like this aren't always up to the parent and are kind of automatic.  In the case of oxygen if a doctor writes orders and the medical supplier supplies it then you need to get the doctor to write orders again for its removal before they will take it away. Doctors don't want to get sued, so they can be reluctant. It takes knowledge and advocacy to make it happen. After awhile I felt I knew my daughter well enough that I was able to find the courage to go places without that oxygen tank in the stroller, but I always had it in the trunk of the car. I was always concerned what would happen to my other kids if we were ever rear ended. Thankfully that never happened, but as soon as I felt safe I removed it from our car.

In the early years (pre-fundoplication) Ainsley's airway was literally swollen shut from reflux (and likely other contributing factors).  It was an incredibly dangerous situation. I'm not sure that I've ever shared this photo from one of her scopes but you can see there is no breathing through this airway. If her trach came out (which it could easily do) she would gasp for breath and could actually die.  We watched her like a hawk never taking our eyes off her (driving was quite problematic particularly when she was an infant requiring a rear facing seat). It was stressful to say the least.

Life became less scary once her airway opened up enough that there was some space.  We still didn't know exactly the reason that she needed the trach, but with the support of other parents we learned to take some chances. Eventually experience taught us that we could use a resuscitation bag (which we also always had with us in the car) if the trach came out until an ambulance showed up with oxygen plus we'd seen that she almost never needed oxygen, only if she became sick, and then only when she slept.  After some convincing we were able to get oxygen out of our house for awhile. I'm all for eliminating unnecessary medical costs in every way possible.

Then when Ainsley got her trach removed in July 2014 we were sent home again with oxygen. She was actually more likely to need it then than when she was trached but again we needed the experience of seeing that she was safe.  Her trach stoma was surgically closed in July 2015 and again we were concerned about how she would handle the change to her airway, so it was logical to have oxygen "just in case". It's been 6 months and after making it through most of cold and flu season this year I was feeling pretty sure she wasn't going to need it so I started the process to get it removed from the home. It took a few months of following up repeatedly (that's just how things are) and they picked it up last Friday.

Of course that is also when I started to feel sick and so I've been avoiding Ainsley so she isn't exposed, a little terrified that just as they pick up the oxygen she'll get sick and need it, because wouldn't that just be like "life" for things to go that way?!  I've been in bed for days and Steve has stepped up to take care of things around the house and I'm starting to get better and I think she's not going to catch it, but it just reminds me that this will never be over. We have good reason to be worried about Ainsley's airway. She still struggles when she cries or laughs. Playing too hard gets her out of breath. It is awful that having fun and playing or even just walking leads to concern about getting enough oxygen.  And of course there is the fact that she can't sleep without the breathing support of CPAP (actually APAP in her case) and I worry that unless we keep her on pulse-oximeter monitoring at night that she could die while she is sleeping if she fails to wake up if she's having trouble breathing. It's happened, our pulmonologist has warned us he has low tone patients die in their sleep every year.

I wonder when did having a flammable explosive gas in my home become "no big deal"? When did I change into the person who feels confident they know more about their daughters medical condition than her doctors, and therefore knows better whether or not she needs oxygen than they do? Although we are happy that Ainsley got her trach out and is managing okay without it there has been a part of me that understood that this will never be over. I've held onto her trach and g-tube supplies for that reason, I know that there is a chance that either one could need to be put back in. All it would take is one bad illness. Still I push forward. I am choosing to optimistically removing oxygen from our home and soon I will be packing up her old medical supplies and equipment. I have enough to supply a small 3rd world medical clinic. It will be nice to make space in our home but it will also be symbolic of the hope but not certainty that we have, 6 months post stoma-closure surgery, that this decannulation is permanent. 

I want to conclude for my friends who have kids with trachs who dream of a day when they too can "leave it all behind" and for friends and family who view our lives up close or from a distance that while getting the trach out is great, for most airway patients it does not mean that our life is now magically like everyone else's. And I will never forget what trach life is like. It will forever be part of us. As parents of newly trached children we all believe for awhile, that the trach is the enemy, and life will be "normal" when it's out. I wish I'd understood from the beginning that it's not that simple. I'm still learning it: nights that I listen to Ainsley breathe heavily, nights that Steve or I jump up out of bed to check on an alarm or reposition her mask, when she starts to get sick and I fear how badly it will affect her breathing, times that she gets hurt and cries and struggles to breathe, something that happens often. These are things that still affect us every day and probably always will. Only time will really tell. Still, I'm thrilled as can be to get that oxygen out of my house!