Canadian Down Syndrome Awareness Week: Cpap

K does not have sleep apnea however she has had several sleep studies to rule it out. You can  read about our experiences & some tips on "Surviving a Sleep Study" here. Many kids with Trisomy 21 do have sleep apnea though & one possible remedy is a CPAP machine. I have sleep apnea myself & have had a CPAP machine for a number of years so I thought I'd post some tips on using one.  These are from my own experience but I tried to think of it from a child's point of view.  I hope those of you in this situation find them useful.

Try to get a mask that fits well & leave it as loose as you are able - don't believe the helpful technician who has never actually worn one when they tell you it can be quite snug.

See if you can turn the pressure down as your child adjusts to using a CPAP machine.  Gradually adjust it upwards over a period of a week or two until you reach the prescribed pressure. 

Get a machine with a ramp feature. This allows the pressure to be set  lower as your child is falling asleep then ramp up later - a 1/2 hour delay is common.

I would also start out expecting your child to only wear it for a couple of hours then gradually increase the amount of time your child wears the mask until they are able to tolerate it for most of the night.

Watch for any irritation. You may have to switch masks, adjust it differently or put on some cream to prevent further rubbing & irritation while it heals. 

Explain everything & practice trying the mask on your child while it is not turned on & without the hose attached during the day when your child is in a more receptive mood. Waiting until bedtime when your child is tired to try it on for the first time may not be as well received. It may also help to try it on yourself & any cooperative siblings or even a favourite stuffed animal. 

Create a social story book  (in all your free time;)  with pics of your child using the mask & explaining what he needs to know about it. 

If any of you have used CPAP for your child I'd love to hear your tips & ideas on how to make it more successful.

"Come look! Quick! My tooth, my tooth fell out!" - Finally.............. a quick update!

Often, almost daily, as I drive the kids to one event or another I compose a blog post in my head.............getting time to sit down & type it on the computer is quite another story though. Too bad I haven't found a program to effectively take my thoughts or words & retype them into blogger for me as I'd have lots to say!

Today however, I'm at the library while K is attending a summer speech program which has been going on all week.  They are working on specific sounds, most of which she can say but needs help remember to say clearly so I think this is helpful to her.  She has again only had about 4 speech sessions in the last year so every little bit helps.

K turned 6 back in May & I'm hoping to do up a video of her last year...................hopefully before her next birthday I'll find time!

As for a very recent update, she's had an exciting week.  One of her front teeth has been very loose for a couple weeks.  We've been reading lots books on loosing teeth & she was anxiously awaiting the big event!  Over the last couple of days it got really loose & last night she called excitedly from her bedroom "Come look! Quick!  My tooth, my tooth fell out!"  Of course 1/2 the house roared up the stairs to celebrate with her.  She looks so adorable but so much older with that front tooth missing & of course I had a teary mommy moment watching my baby become an even bigger kid.

They're working on the TH sound today which is one that K can say but it is tough for her.  When reading she consistently says "bu" instead of the.  I'm wondering how much that missing tooth will affect this sound though!


Okay, I'm hitting publish now but I'm starting on a new post.  It's time to post an update favorite apps list.  See you soon!

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.

Recent Research on a Drug to Help with Cognition

Here is a link to a recent study in a drug to help cognition in people with a trisomy 21.  As I have said before, drugs are not the first approach that I would use & although I won't be first in line to sign K up for any research studies for prescription drugs to help with cognition any time soon, it is something I like to be aware of.

http://mobile.washingtonpost.com/rss.jsp;jsessionid=813ECBFEAA3D2FE552669F6438AB1A23?rssid=863&item=http%3A%2F%2Fwww.washingtonpost.com%2Fnational%2Fhealth-science%2Fdown-syndrome-researchers-see-hope-for-a-pill-to-boost-patients-mental-abilities%2F2012%2F07%2F30%2FgJQA1ntvKX_mobile.mobile&cid=-1&spf=1

What are your thoughts on this study & the subject of using drugs to help with cognition?

One year ago tonight........................

One year ago tonight, I held my daughter's limp, blue, not breathing, unconscious body in my arms.  We had been performing first aid for several minutes, but it wasn't working.  Our SUV stopped in the middle of the road, so my husband could help, the hospital was still 15 minutes away & the ambulance that we were expecting when we called 911 was even further away. It was the single scariest moment of my life.  Typing this now, even a full year later is difficult, the tears are streaming.  A few minutes before, I had thought we would get to the hospital in time, but at this point I wasn't sure.

About 15 minutes earlier, we had sat down for supper.  We were in a bit of a rush, because we were heading down to the ski hill soon.  Hot dogs are a rare treat in my house, but at a grocery store in a different city a few days earlier, I had found some hot dogs that I thought were better nutritionally.  In my rush to get the kids fed & out the door, I forgot to slice K's hot dog in half length wise like I always do for my kids at that age.  She was quite hungry & very excited to get such a treat for supper, so she took a big bite & didn't chew as well as she should have.  Within moments, she was struggling to take a wheezing breath as a large chunk of hot dog blocked her airway. We tried doing the Heimlich, & because she was little we also tried doing the back blows & chest thrusts that you would do for an infant who is choking.  When we weren't successful, we quickly decided to head for the ER.  K was still able to breathe, but it was laboured & she was still wheezing. Once in the SUV, I phoned 911, which is when we were told that the only available ambulance in our tiny community at the moment, was way on the other side of town.  We had to make it to town with her still alive as the ambulance would never arrive in the few minutes it takes for a child to pass away from lack of oxygen.

Every first aid course I have ever taken (& there have been quite a few) came back to me as we desperately tried to get K breathing again. I'm sure it was only minutes, but it seemed like hours that we worked on K`s limp body to unblock her airway & get her breathing again.  Finally, I managed to dislodge the piece of hot dog & get it far up enough in K's throat, that my husband was able to put his finger in her mouth (which is actually a no no, but at this point we were desperate) & get it out. Within a very short time, K regained consciousness & her skin started to return from a terrible blackish blue colour to pink again.  By the time we reached the hospital 15 minutes later, although sleepy & not herself, she was starting to become more active & respond to questions.  The hospital monitored her for a while, then sent her home the same evening.

Although K mostly recovered quite quickly, her face looked terrible for a few days as many blood vessels broke during her ordeal.  She also had a number of bruises from us performing the Heimlich maneuver & back blows so many times.

The next evening, we cancelled all of our New Years plans & spent a quiet evening at home, just thankful that all of our family was there to enjoy it with us.

I am surprised at how hard this has been to write.  I don`t remember when I shed this many tears last.  I think how easily things could have ended differently & I am so grateful.  

If you make only one plan for the New Year, make a resolution to take a first aid course.  I pray you will never have to use the information, but it is better to have it because you never know when something like this could happen.  

Cardiology Update - Mostly Good News

I have been talking to K all week about this cardiology appointment & what will happen. Usually when I prepare her this way, she behaves very well.  Even at age 2 when she didn't like strangers to touch her at all, she still lay there & was quite good about it for the full 45 minutes or so that the echo cardiogram takes.  Yesterday had a rockier start.  From the moment the technician put the jelly (is that what it is called?) on her chest, K started crying & complaining that it hurt.  For a while, I didn't think she would calm down enough for the test to be completed, but thankfully the technicians were very patient & my husband & I both were there to calm her.  K insisted on sitting up which made it a little more awkward, but eventually they got quite a few good images.  Every once in a while she got upset again, but when we asked her to take a deep breath, it  seemed to help her calm herself & eventually they were able to get enough clear images & the echo was done.

One thing that I appreciate about cardiology is  that we get to talk to the Dr. shortly after the tests are done rather than have to wait a week or so like with many other tests.  The news was mostly good.  The VSD & cleft valve have not worsened at all.  The bad news is that he feels that the VSD will not close if it hasn't already.  I was really hoping that it would be healed when they checked today.  The good news is that because both problems have not worsened & are not leaking any more than they did when she was born, he feels that they will not worsen.  Because her heart will continue to grow as she does, the leaks will be smaller in relationship to the size of her heart. He does not think she will ever need surgery!  That was so comforting to hear.  She will need another check up, but not for 2 years.

As we were about to leave the cardiologist asked if K goes to preschool - he said it is really good for kids with DS to have that kind of stimulation. I hope Dr. K didn't realize that I had such an amused smile on my face!  I didn't have time to really go into details, so I just replied that yes, she does & that just yesterday, we went to the library program as well as swimming after as well.  I guess I should share a little more about our neurodevelopmental program, but time just didn't permit.  My husband & I had a little giggle about this after.

And the funniest part of the day?  K had a couple of nurses & the whole waiting room in stitches when she yelled "WOOHOO"  as we left!  She was definitely glad that it was over......................me too!

Cardiology & Comfort Food.

I'm drinking my current favorite, double spice black chai tea & eating chocolate  - my all time favorite as I write this.  In the morning, K has a cardiology appointment -  I always hate this day, so today is one of those rare days that I am in need of comfort food.  Usually chocolate & tea are just for pure enjoyment! I have no reason to suspect bad news & the optimist in me always hopes it will be surprisingly good news, but I know I won't sleep as well tonight & I know I'll be on pins & needles a bit until we hear how she is doing.

When K was diagnosed with T21, her pediatrician sent her to a cardiologist, saying that he was quite certain they would not find anything, but it needed to be done just in case.  As it turns out, they found an ASD, a VSD, & a cleft valve.  Thankfully, the ASD closed on it's own within the first year.  The VSD seems to be closing very slowly, but that darn cleft valve I am told will not heal on it's own.  But again, I'm an optimist, so I still think that there is a chance :)!  One of my biggest worries is that at this point the repair requires open heart surgery.  I am always keeping my eyes open for news that there is a new procedure that is less invasive, but so far this hasn't changed.

Now, although I am complaining tonight, I do need to say that we have been very blessed with K's good health.  Heart problems & all, she is a very healthy kid & I am always very thankful for that, but if you have a moment, say a quick prayer that it goes well or send us positive thoughts for tomorrow.  I'll let you know how it goes.

I've got to go now.................the kettle just finished boiling again!

Thanks
Laura

" Holiday, Holiday!!!!!! "

Like many kids with DS, K has a few more medical/therapy appointments than most kids. Thankfully though, she doesn't have any really serious issues & it did get a lot better after the first year.

I have been determined from day one that this would in no way put a damper on our family life. Rather than having my older kids think "oh, no, we have to run to another appointment for K, we try to do something fun each time instead. Sometimes it is as simple as letting only one of her big sisters come along for a special day. Often we go to a museum, zoo or go on a shopping trip. Instead of resenting their sister for taking even more of our time, they appreciate that because of K, they get to go on more "holidays and day trips.

Speaking of holidays, we just got back tonight from one (therapy). K & I had a great time visitng with friends, checking out the mall, & of course trying out the hotel pool & hot tub. Lately, one of K's favorite words is "holiday!". Whenever she sees a suitcase, she calls out hopefully, "Holiday, Holiday, I go holiday!!!".

Why I luv Specs4Us - a picture says a thousand words!

K has worn glasses since she was 9 months old.  We had a very difficult time even finding a pair of glasses to fit a tiny 9 month old.   Her first pair were a terrible fit, but fortunately, we found out about what was at the time, a brand new company called  Specs4Us. They make glasses designed specifically for kids with Down syndrome.  I think the thing that I enjoy the most about this company is the incredible customer service. This company has always gone above and beyond the level of customer service that I have come to expect.  The first time we ordered glasses, they even sent me a few pair to try on to be sure that the fit was correct.   My daughter's glasses got broken last year after a horrific accident that I'm sure no pair of glasses could survive !  It was on Valentine's day, which was a Sunday.  I sent of an email to the owner, Maria Dellapina, certain that I was not going to receive a reply at least until Monday morning.  Within the hour, on a Sunday, I had a reply!  Now that's customer service!

The other thing I really appreciate about Specs4Us is their durability.  The bottom pair in the picture below is from about 10 months ago - my daughter isn't always easy on her glasses!  She is getting better thanks to a change in opthamologists & a more appropriate prescription, but that's a whole other story! If I remember right, this picture was from the time that K's glasses got run over by a large 4X4 truck. I really didn't expect them to be saved, but, after warning me that they likely wouldn't survive, the optometrist was able to bend them back into shape without them breaking.  We are still using these glasses. They have been bent back from similar shapes to this about ten times, but they are still going strong! I have never seen a pair of glasses as mangled as hers have been several times, that have been brought back to life!  

check out the bottom pair -10 months ago........

and tonight - still as good as new!

Here is a link to Maria Dellapina's Specs4Us site if you are interested:

http://specs4us.com/