AAI - Atlantoaxial Instability

Sorry for the blurry picture but here's evidence of K's fascination with all things doctor...........most 5 year olds probably wouldn't notice this poster.  See how K is pointing  out the details to me? She had to read most of it too lol!

Atlantoaxial instability is a separation between the C1 & C2 vertebrae.  In the last few days I've been doing quite a bit of research on this subject & in most cases I read that a separation of up to 5mm is considered normal "for kids with T21" although in some reports I've read up to 4.5 mm.  For kids with T21 is in quotes in the above sentence because I hate when doctors clarify things that way - there are many times when doctors decide that things are "normal" for kids with T21 which they would treat in typical kids - thyroid problems are a common example of this.  Anyways, back on topic again..........

Occipital-atlanto instability is also not uncommon in kids with T21 & occurs between the occipital lobe & C1 vertebrae. The incidence of these conditions is anywhere from 10 to 30% & very few of the people affected have any symptoms. Here is a quote from the NDSS page on AAI:

""Most importantly, symptomatic AAI is apparently rare in individuals with DS. In the pediatric age group, only 41 well-documented cases have been described in the published literature..."

Yet I can think of a couple of kids who weren't even 3 when they were affected.  Off the top of my head, there was a little boy whose mom used to post on the BBC DS forum who went in for a T&A surgery but was X-rayed first & ended up having surgery for AAI instead.  Another is little Rhiannon who was about 3 months older than K. She passed away due to undetected AAI. So why aren't we testing?  It occurs in 10 to 30% & most have no symptoms? I understand that an X-ray is not a perfect test for diagnosing AAI but in my opinion a less than perfect test is better than ignoring the potential danger.......& this is potentially very dangerous.  

We've been considering having a screening X-ray done  for K since she was almost 3 years old. It used to be recommended at around that age.  We choose to wait for 2 reasons: By age 5 the child's bones have calcified more providing a better X-ray & because we only wanted to have to do it once so that we were exposing her to less radiation from the X-ray especially because the thyroid cannot be protected during this X-ray.

In the meantime, the guidelines for this diagnostic test changed both in the US as well as here in Canada.  Although I printed the Canadian guidelines off for myself as well as an extra copy for K's pediatrician, D r. S, last summer, I can't seem to find the link, but here are the American (AAP) guidelines which I'm sure are quite similar. They no longer recommend a diagnostic X-ray. Again, I completely disagree with this. 

Here is the section on AAI & AOI taken directly from the Official Journal of American Pediatrics:

"

Atlantoaxial Instability

Discuss with parents, at least biennially, the importance of cervical spine-positioning precautions for protection of the cervical spine during any anesthetic, surgical, or radiographic procedure. Perform careful history and physical examination with attention to myelopathic signs and symptoms at every well-child visit or when symptoms possibly attributable to spinal cord impingement are reported. Parents should also be instructed to contact their physician for new onset of symptoms of change in gait or use of arms or hands, change in bowel or bladder function, neck pain, stiff neck, head tilt, torticollis, how the child positions his or her head, change in general function, or weakness.

The Asymptomatic Child

Children with Down syndrome are at increased risk of atlantoaxial subluxation. However, the child must be 3 years of age to have adequate vertebral mineralization and epiphyseal development for accurate radiographic evaluation of the cervical spine.⁵² Plain radiographs do not predict well which children are at increased risk of developing spine problems, and normal radiographs do not provide assurance that a child will not develop spine problems later.^53,54 For these reasons, routine radiologic evaluation of the cervical spine in asymptomatic children is not recommended. Current evidence does not support performing routine screening radiographs for assessment of potential atlantoaxial instability in asymptomatic children.^55,–,64 Parents should be advised that participation in some sports, including contact sports such as football and soccer and gymnastics (usually at older ages), places children at increased risk of spinal cord injury⁶⁵ and that trampoline use should be avoided by all children with or without Down syndrome younger than 6 years and by older children unless under direct professional supervision.^66,67 Special Olympics has specific screening requirements for participation in some sports.⁶⁸

The Symptomatic Child

Any child who has significant neck pain, radicular pain, weakness, spasticity or change in tone, gait difficulties, hyperreflexia, change in bowel or bladder function, or other signs or symptoms of myelopathy must undergo plain cervical spine radiography in the neutral position.^55,65 If significant radiographic abnormalities are present in the neutral position, no further radiographs should be taken and the patient should be referred as quickly as possible to a pediatric neurosurgeon or pediatric orthopedic surgeon with expertise in evaluating and treating atlantoaxial instability. If no significant radiographic abnormalities are present, flexion and extension radiographs may be obtained before the patient is promptly referred.<sup>23,62,63


As I said, I completely disagree with these recommendations so this spring I asked K's pediatrician to have this done. As per the guidelines, he didn't feel it was necessary but ordered it anyways because he respects my need to have certain extra testing done for my peace of mind. 

 We actually went to have the X-ray done a couple of months ago but when we arrived I realized that the orders were just for a regular side view of K's neck.  I had researched in the past & even spoke with an expert at a US Shriner's hospital who said flexion & extension views were necessary to diagnose AAI. I refused to allow the side view so it was back to the pediatrician to inform him about which types of X-rays are necessary.  Thankfully he not only understands that I research all of my daughter's health concerns but actually recommends parents be very informed so he happily accepted my recommendation & changed the orders to include flexion & extension views.  If you are getting this done for your child make sure they do the proper views.

K has been fascinated by anything to do with doctors lately so she was quite willing to cooperate for the X-ray.  She happily sat on the stool & carefully followed the directions for each X-ray view, flexing her neck so her chin was tucked in & extending it back when asked.

I checked that test off my list & went on my way fully expecting to never hear a thing about it. Within a few days I received a phone call.  Of course they wouldn't share any details over the phone but they did admit that K has AAI.  They didn't actually have any appointments left until early December but the kind hearted nurse understood that I have no patience when it comes to the health of my kids & squeezed us in for an appointment 2 days later.  

Of course I spent the any time I could during that next 2 days at my computer & here are a few links that I found very helpful.

The Garden of Eagan is a blog written by a mom whose son has had  successful surgery for AAI. Her youngest also has this condition & is being monitored.  She is very knowledgeable & has been wonderful at answering my questions.

Life With My Special K's is another blog by a mom whose daughter had spinal fusion surgery. This is a very informative post.

I really like Paul Doney's AAI page on his Super Down Syndrome site. Not only is it full of information, but I found the diagrams made it easier to understand & it has links to some studies & other info on the bottom of the page. 


During K's appointment I found out that K does have AAI & the gap is 4.7mm.  As I said earlier, according to my research some feel that that a separation of up to 5mm is considered normal " although in other reports I've read up to 4.5 mm. At 4.7 K falls right in the middle of that area.  Upon receiving the X-ray report K's pediatrician had phoned a neurologist at our local children's hospital.  The neurologist feels up to 5mm is normal for kids with T21 so he said K should have no restrictions on her activities.  I questioned Dr S on activities such as skiing as we did just buy K a new, larger set of skis last week & he replied that the neurologist said no restrictions. I admit that I'm a little nervous about the gap in K's neck being within that grey area & so close to being at a level that would require restrictions on her activities. On the other hand, the gap rarely widens unless there is a trauma to the neck.  The other thing to consider is that the X-ray is not always a reliable test.  My plan for now is to still be a little more cautious like we've always been.  K won't be allowed to do summersaults & we'll keep using a harness when skiing until we are confident that she can ski in control.  I will be requesting a followup X-ray at some point down the road.</sup>

Today, Down Syndrome Sucks

I don't worry about Down syndrome itself I don't stress about the future, I just don't..............it's the medical stuff that get me.

Down syndrome itself doesn't bother me, but there's always that nagging worry that the other shoe will drop.  It happens less & less as K gets older.  At first it was her heart...& that one still comes up every now & then. Then it was sleep apnea, high iron levels, thyroid, hearing & vision & of course there's the ever present nagging thought in the back of my mind that kids with DS are more likely to have leukemia.  You understand right? That list just goes on & on & that's what I sometimes have trouble dealing with. 

K finally had her AAI x ray done last week. I was so sure it would be fine but she does indeed have AAI.

I think I would be totally at peace with Down syndrome if if it weren't for the potential medical issues.  I don't cry about Down syndrome but I've been hiding my tears all day, from the doctor, from an acquaintance who I wasn't wanting to share with, from the man from the Internet company who is trying to overcharge me (after my morning he got a polite but demanding earful!) & from K & my next youngest KJ, because although I explained it & will explain it to their older sisters when they get home from school, I don't want to worry them.

Today I feel like calling my mom (who lives to far away so I won't even tell her anything until I know more facts) to come over, give me a hug & help out with meals & kids & everything so I can just go hide somewhere & cry because today, Down syndrome sucks.

Would you "change" your child with Down syndrome?

I posted a link to this study earlier this morning on my Face Book page. It is a fascinating article on how scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Trisomy 21. The discussion on Face Book was quite interesting & I'd like to share more of my thoughts here.


 Some of the discussion was about changing our kids. This treatment is not intended to do that but I'm going to address it anyways.  I would not want to change K but in her case I can't see how "taking away" her Trisomy 21 would really change who she is.   Besides, we've been doing that already. We have been working with K since she was a newborn using her neurodevelopmental program & supplements. In the last couple of years we have used more vitamins & supplements to help her.  We have taken her to a chiropractor since she was a few weeks old. K has been seeing a natural doctor occasionally & sees a cranial sacral therapist once a month.  All of these things have been done to help her overcome the effects of the extra 21st chromosome.  Have we changed her with all of this effort?  Probably............& I hope so, I love who K is - she's amazing & so much fun to be with.  Maybe if we hadn't done those things she would not be able to communicate who she is as well as she does. Who knows how different she would have been had we not done all of those interventions?  K had a strong, vibrant personality that shines through regardless of that chromosome - removing it would not change her.  She'd be the same little girl who perhaps could run as fast as the other  kids or speak just as clearly without quite so much effort.

I asked the rest of the family individually after I wrote this if they thought removing the chromosome would change K.  All agreed that it would not although one of my daughters said she'd just be able to express her sauciness better  - & she's probably right!

The one possible medical scenario mentioned was the possibility of being able to aid in the recovery of patients who have leukemia by giving them a stem cell transplant using their own stem cells that have had the extra chromosome removed. I have a friend whose little girl is fighting leukemia right now. Her daughter is a fighter & doing great but I'd love to tell her that we could change her daughter's stem cells to give her even better odds of surviving.

Later in the article it talks about possible applications with early aging or adult mental decline.  My thoughts immediately went to Alzheimer's disease.  We know  that's a pretty universal concern for people with Trisomy 21.  I would welcome the chance to change my daughter in those ways.

When the question of changing our kids has come up in the past my mind immediately jumps to the medical issues.   K's heart problems are  very minor I'm told & I'm thankful for that but it's still a nagging worry.  Yes I'd change that too.

Often when we talk about changing her kids we mean their cognitive function. My last point on this subject is that many of us are already doing this.  It is commonly known that our kids are much more likely to develop thyroid problems.  Untreated thyroid problems lead to cognitive decline.  We have no problems treating this cognitive problem so why wouldn't we treat other cognitive problems if it were possible?

Edited:  I'm adding one more point here.   Aren't we all changing our kids any time we take them to any mainstream therapy too? The point of therapy is to help our kids gain skills, I'm just going about it in a bit different way.

 
I also want to clarify, & I have said this before but to repeat in case you haven't heard, I will always look into any new treatment or drug very carefully before giving it to K.  When it comes to new drugs I am especially leery because I believe every drug has side effects & in many cases there is a safer natural alternative.

My other point is that we don't have to wait for a "cure" to get started helping our kids.  I blogged about this here the other day.  There are so many different things that we can try.  Some may work for one child but not another but there are lots of options & I'm excited to see new research  being done because even though we have all of those options I'm sure there are a lot of things we are missing that will greatly benefit our kids.


I'd love to hear your thoughts on this.  Would you "change" your child?

"We all can dance" Canadian Down Syndrome Awareness Week

This is my last post for Canadian Down Syndrome Awareness week.  After this week of posts plus a back to back attempt at  31 for 21, I think I'm ready for a short break! I saved this post for the last day because I think it is fitting.  I hope you enjoy it!

I randomly picked this book at the library a few weeks ago.   The picture looked cute & K had been reading a nonfiction book about giraffes, so I thought it would be fun to read a fictional story too. I had no idea what a wonderful message this book would have.

 

How often do you hear that kids with Down syndrome can't do_____________? If you have been reading my blog for very long, you probably realize that I have no patience for people who put limitations on my daughter's abilities.
 for
Gerald the Giraffe would love to be able to dance like the other animals, but is discouraged because  he is so clumsy.

   

A wise cricket helps Gerald realize that he can dance just as beautifully 

as the other animals, he "just needs a different song"

 

Isn't that a great message? my daughter's healthy diet, the early learning we have done as well as the neurodevelopmental program the we have done with K have allowed her to dance far beyond the what would be expected of a 5 year old with an extra chromosome, & in some areas, far beyond a typical 5 year old with the usual 46. She is dancing, she is soaring & she is singing along as the music plays!

I recently got a chance to go for coffee with a mom who I've previously only met on line. I admire this other mom for her dedication & energy to not only her daughter's well being but towards other DS projects. She is a great support to others & is helping to get a lot of information out to other parents & to bring them together.

My friend's daughter is also doing a neurodevelopmental program & while she believes it is beneficial, the biggest results she sees haven't been from her neurodevelomental program.  The various supplements & vitamins her daughter uses have made a much bigger difference in her development. 

I'm sure the "music", whether it be a neurodevelopmental program, vitamins, a diet free of gluten, dairy,  a certain therapy or therapist etc, is different for every child,  but I believe every child, with or without an extra chromosome, can dance, we just need to help them find the music that they love!

Canadian Down Syndrome Awareness Week - Excitement about the dentist?????????

It's not very often that I am so excited about a medical (actually in this case dental) appointment but I am like a little kid in my excitement today!

I have finally found a dentist that I really believe is right for our family.  He is a holistic dentist/orthodontist & very knowledgeable not only about dental concerns but health & diet as well.  Every time we see him we have the most fascinating discussions & I learn so much.

Today we went to take molds of my daughter KJ's teeth so he could get a dental appliance made for her.  It is a simple wire that sits behind her teeth & will basically take the place of braces.  

The first indicator that something about the visit was going to be a little different?

He talked about KJ's posture.........what does posture have to do with teeth?  It was fascinating to see the pictures he had taken. There were horizontal & vertical lines on the pictures & with that visual it was simple to see that KJ's posture was not correct & even her jaw was much more developed on one side than the other.  It was even more fascinating when he explained how her teeth were affecting the rest of  her body. I'm excited to see the results!


Okay, so I wrote this about a month ago but didn't get a chance to finish it & today we were back for KJ's first refitting.  I'm still thrilled with the dentist but not quite so excited today as I also had an appointment & had  4 large mercury fillings removed :(     .............but that's enough complaining:)   I'm sure I'll free great soon because of the large amount of mercury they removed.  KJ is doing well & sailed through her appointment.

Next it was K's turn.  Dr. D is monitoring K because as soon as he believes her mouth is ready she will also get an appliance.  He feels her mouth needs to be just a little more mature. He is planning to do it soon but doesn't think she is quite ready yet. The bad news is that she had an area on her tooth that was just starting to decay.  She didn't need a filling but required a sealant.  We all wondered how she would do.  Remember, this little girl was terrified of going to a doctors as recently as a year ago. We were hopeful though because we have put a lot of effort into making the dentist a fun experience.  We've just never had to put her through anything besides a quick check & tooth count before. All of our home made "Going to the Dentist/Doctor type books have paid off because she was wonderful today.  It was a quick procedure but did require a piece of protective padding stuffed in her cheek & some noisy, vibrating implements.  She was smiling when it ended & high fived Dr. D as she hopped down from the chair to go look for a prize (actually 6 of them - they spoil the kids there!).

Although K is not ready for an appliance yet, I asked him about the MYO appliance that K's nerodevelopmentalist had recommended.  The Myo has also been talked about on a couple of DS boards lately & a few other families are trying it as well. I had hoped the MYO would help prepare her mouth for the appliance a little more quickly.  I was disappointed to hear that Dr. D had tried similar devices in the past but just hadn't seen the results he had hoped for.  He doesn't think it will do any harm though so suggested trying it to see if there are some improvements. 

I am going to take some pictures to try to document if there are any changes & I'll update as we go.

Canadian Down Syndrome Awareness Week -Printing practise

K is finally started to agree to doing some handwriting practice. For the longest time, she didn't like writing of any kind.  Following in the footsteps of KJ, my now 9 year old, she didn't even want to pick up any kind of crayon or felt pen.  I tried to give K lots of opportunities, while not pushing & she is finally much more agreeable to this sort of thing & often initiates it herself now.  

We have been doing Handwriting without Tears for a while now but sometimes it is nice to do something new different so I try to have lots of different options for K.  

I think any kind of writing is helpful to gain the fine motor control needed so we use lots of different mediums.

I have a peel & stick chalkboard in K's room for her to play with whenever she wants.

We like the magna doodle for in the vehicle. It's pretty sturdy & I don't have to worry about losing pens. We do take coloring sheets or blank paper & pens at times but the magna doodle is our constant travel toy.

This Giant wipe off book is a fun way to practice letters. It was a 50 cent purchase at our annual town wide rummage sale which raises money for local events - win, win!

and another rummage sale purchase - this Discovery Toys printing set cost $1.00 & is so much fun with multicoloured pens.

I often leave a different style of pen, crayon or paint brush on her little table that sits in my kitchen to hopefully entice her to do some art.

I printed off worksheets from First School & ones like this from Preschool Learners - There are thousands available on the internet & I love that I can just search for whatever K is interested in to use activities she enjoys to learn with.

I recently discovered this printing worksheet maker - with this I can make any kinds of sentences which is great for keeping K interested.

These are just a few of the printable options but there are thousands & thousands available on the internet.  My favorites are actually bookmarked on our other computer that I isn't here right now but there are many other great sites. Sometimes I will just do a google image search  - I always get lots of great ideas.

K's handwriting is starting to improve.  Sometimes her art is not recognizable - she still enjoys filling in the entire page on her magna doodle, but then some days I get artwork like this:

What activites do you use to help your kids with printing?  Please feel free to share your ideas & links in the comments:)

Canadian Down Syndrome Awareness Week - Winter Gardening & Skiing

I've talked before on my blog about the fact that we try to eat healthfully.  One of the ways in which we do that is to grow our own garden.  Now, as any good Canadian gardener knows, carrots taste better if you leave them in the garden until there have been 1 or 2 good frosts.  The downside to that?  It could mean there's snow to follow soon.  Usually I have enough time to get my carrots in & usually I figure the snow won't come to stay until after Halloween.  Unfortunately this week it came about 2 weeks before.....................& on a week where I was home for about 2/3 of a day in between the 3 day high school camping trip & the volleyball tournament that involved a hotel stay - not a good carrot picking week.  I kept waiting for the snow to melt but as it continued to snow & settle in for a long winter I decided that I better toughen up & head out to pick carrots.  At least the snow has sunk down to 3 or 4 inches from over a foot a week ago.

Good old Canadian maple leaf gumboots make great carrot picking footwear.

 

Gardening in the snow is similar to summer gardening except you need a few extra tools

  

A shovel to scoop off the bulk of the snow.

 

A rake to scrape back the next layer of snow

 and a broom to sweep away the last bits of snow

Sorry for the fuzzy picture but that's my daughter T helping pick some carrots after we got a section of snow scraped back

It was the most challenging carrot picking day we've ever had but at least it was a productive day!

As you can see from some of the above pictures, it was almost dusk as we were picking the carrots.  Earlier that day we went to our local ski swap.  We sold a few skis that we didn't need, everyone found a volunteer job, we visited with friends, some of whom we hadn't seen since last season & best of all, K hit the jackpot - New Skis!

I was hoping to find her a new pair today...............even though K loves her old skis.

 K's been using the same pair of skis for the last couple of years & they were just too small. K wasn't sure she wanted to give up her beloved flashy pink & orange skis but was talked into it when she saw how cute the new ones are.

 

We've planned a couple of ski days in the mountains with friends in early December before our ski hill opens & K is chomping at the bit to try them out so I'll try to update then.  K was just starting to get the hang of turning last spring so I'm excited to see how she does this year.

Canadian Down Syndrome Awareness Week - Another Halloween post

Somebody has been pestering me to be Scooby Doo for Halloween for about the last 2 months now.  Every other year she has been some form of fairy or princess so I was worried that she'd change her mind at the last minute but nope, she was as excited as ever to walk out the door as Scooby Doo.  Thank goodness it is a roomy costume - she needed to be wearing ski pants, snow boots & a winter coat to tromp through the foot of snow we've got right now! This is the most snow I can remember seeing before at Halloween. Usually we get a little snow before but it doesn't settle in like this until November. I'll try to post a picture to add to this post of K out in the snow in her costume once I get a chance to get it off the other computer.

Canadian Down Syndrome Awareness Week - Reading Comprehension

I have always heard that for kids with DS, comprehension lags behind general reading ability. I have pondered this a lot, & keep coming back to the thought that I think this is true with many kids..........& to be honest, I have to admit that when reading on certain listserves that get very technical about DS, often my own reading level is beyond that of my comprehension! lol

 K's level of understanding when reading is below her reading ability, however, her comprehension is still at a mid 2nd grade level, & her vocabulary has tested between a mid 3rd grade to just below a grade 4 level. Yes, it is behind, but on the other hand, it is still way beyond where it should be for her age. I would not have expected my other kids at 5years of age to completely understand grade 4 material & not only that, because I had never heard of early reading, none of them could read before age 5. I am confident that K's comprehension will continue to progress so that she stays on track or ahead of her grade.

One thing that I really think has helped K with general comprehension, is that we talk about & explain everything. We did this even when she was a baby.  We always tried to assume that she understood & that she wanted to know everything about her world. Even when reading to her, we do this.  Although we often just read fun books, we try to challenge her by reading above the level she reads at some of the time, & often, when reading 3 or 4 books at bedtime, I will choose one that is nonfiction & meant for much older kids such as planets or dinosaurs. Last summer K & I traveled to an area with lots of irrigation equipment in the fields. We had a long talk about how it brings water to the plants in the field. Afterwards I found myself marveling at K's inquisitiveness & the many questions she asks. How often do we explain things like this in detail to a 3 or 4 year old? I think explaining daily life also has helped a lot with understanding of everyday things.

When teaching words we used programs or hand made flashcards that had a clear concise picture. 
Our favorite reading program is Little Reader made by BrillKids. When using this program you can easily show a picture with each word & customize everything to suit your child's needs. This at least helps them understand each individual word. When we worked on sentences, we chose files that were very descriptive with very clear pictures.

When reading a story, we always talked about the words & pointed out how it is happening in the picture, so even as a baby, K knew that the words were talking about what she saw in the pictures.

We tried very hard not to test K or put any pressure on her to read so we have had to find sneaky ways to test her reading. We have used action sentences to help K show us her understanding. Here is a link to a blog post that I did talking about this very subject & how we used some commercially made cards to test K's comprehension.

Canadian Down Syndrome Awareness Week - More Alike Than Different

More alike than different.........................I bet you're wondering what that has to do with tomatoes right?

I had a dream last night that I want to share with you.  I thought it would be an interesting story to share today because this is the first day of Canada's National Down Syndrome Awareness Week.

In my dream last night, I was myself but K was a tomato.  A beautiful, delicious, red, & yes, just a perfect little tomato. In my dream it just seemed very natural that K was a tomato.  There was a big big basket of other wonderful looking little tomatoes.  I could tell that K wanted to play with them & I remember thinking that she was just a little different than them so I would be able to find her again so I set her in the basket with them.  She immediately started to wriggle around playing with them & within a few seconds I couldn't tell which one she was.  I kept trying to figure out how  I could pick her out of the others but there were no differences.  She was just as red, lovely & delicious as all the other tomatoes.  By the time I woke up I was starting to get frantic because I couldn't find my beloved little tomato. 

More alike than different.....................so true!

Happy National Down Syndrome Awareness Week!  I'll be posting every day this week in celebration of my wonderful daughter with DS ! I'd love to hear from my Canadian readers this week.  Please let me know your out there & if you have a blog feel free to post a link.