Climbing Indoors, Candy corn, and Claire

When I say climbing, I don’t mean the kind you do with a dynamic kernmantle rope (ahem, Brian has a lot of gear in the garage).   I mean the kind you do on a regular basis up the stairs and in the case of my children, on their new indoor playground.  Case  and Claire are blessed with enormously generous grandparents who shower them with toys and clothes constantly (to say they really do not want for anything would be a gross understatement)[we are so lucky -believe me I know!].  One set of grandparents the kids happen to live with and so the outpouring of love (or some might even venture to say ‘spoiling’) is done on a daily basis.  The latest toy/awesome gross motor tool that now graces my in-law’s back porch (turned playroom/workout room) is a giant, outdoor jungle gym.  They found it on craigslist and actually happened to know the sellers from the YMCA (obviously) and bought it.  The thing needed a major cleaning so Lee and I spent half a day taking it apart and giving it a thorough scrubbing  (I mean, like lots of elbow grease and spiders).  We then spent another half a day figuring out how to put the damn thing back together (exaggerating (a little)).   Side note: I wish we had video of the two of us using a rubber mallet trying to slam this massive playset together – cue expletives.

We finally did get it together again and the kids are all over it. And, although it’s frowned upon at school (for safety reasons), we encourage Case and Claire to go up the slide.  Like walking up a steep hill, it strengthens the muscles in your quadriceps (which are very weak on Case) and because the incline on this slide is really steep, he needs to pull with his arms to get all the way up.  It has a tunnel which we have to bribe Case to go through as his weak hip flexors make it difficult for him to pull his legs up into it and then putting all the weight on his arms to get out is equally challenging.

Perhaps you’ve already guessed what we’re using as a bribery tool… I can’t help but buy a bag when its staring right at me at the checkout line in Target and the kids can’t help but want it (Brian too).   Terrible thing, this holiday we call Halloween!  But using  small pieces of candy is incredibly motivating for Case and so I vow to myself to brush his teeth a little longer each night if he makes it through the tunnel two more times or up the stairs without as much fuss. Side note: We also use candy corn as a reward for going on the potty (I refer to it as peepee candy – appealing, eh?).  We put it in the zipper closure ziplocs and make Case open and pull “one” out or we also have an old bouillon cube container with a screw on lid that we make Case hold and unscrew (this is still pretty challenging).

You may notice in the photos that Case has things around his ankles. Although it could be some sort of odd fashion statement (not sure what the statement would be), they’re actually just 1lb weights which we’ve been putting on him when he’s around the house to help strengthen his legs while he does every day activities.  He’s getting around much better in them and I’m thinking of upping the weight to 1.5/2 lbs. Case minds them a little but doesn’t have the fine motor aptitude yet to undo the rather strong velcro  and pull them off his heels so he’ll endure it until he masters that skill (and I’ll be proud when he does!).

Finally, I had to share a few recent photos of Claire in honor of her first birthday.

The photo where she’s holding the landline phone perfectly captures the ever-present ‘tude that this girl has ALREADY.  We are in for it, I’m afraid!  The other photos are of her newest trick which is to play peekaboo with her hands over her eyes.  She showed off all her new tricks at the doctor’s office (labeling body parts to the head, shoulders knees and toes song and repeating almost all the words Case knows!) on Wednesday for her well-baby to which her smitten doctor echoed me in saying, “Uh oh, Brian is in for it with this one!”.  She is certainly a spitfire, but every time I begin to think how can I parent two totally different children I remind myself that she is the perfect prescription for Case.  He’s got a little sister who won’t take no for answer and who is going to stick up for her brother tooth and nail.  Not to mention that Case now goes up the slide willingly because Claire does it first.  In our house, a little competition is definitely a good thing!

The Happiness Advantage

Lately I’ve found myself thinking like a glass-is-half-empty-kind-of-girl and that doesn’t really jive with my normally sunny disposition.

After all, friends (and my husband) are always telling me how much they miss my laugh (me too!).

Brian sent me the this link to a podcast: The Happy Secret to Better Work  a few days ago and not only did I laugh out loud while watching it (Shawn Anchor has some pretty good comedic timing for a Harvard guy!) but I found myself thinking about it afterwards and making yet another  fake-lent-resolution to practice at least one of his steps in creating lasting positive change.  Those steps are:

1.  Three gratitudes – At the end of the day writing down at least three things for which you’re grateful

2.  Journaling – spending time writing to yourself daily

3.  Exercise –  of the physical kind – enough to work up a sweat and feel like you’ve accomplished something

4. Meditation – having more than a moment when you’re disconnected (from everything!)

5.  Random acts of kindness – even if it’s writing a coworker an email on a job well done

The key to practicing these exercises is to do them every day for at least 21 days (you know, however long ‘they’ve’ found it takes to form a habit).  So my goal from this post forward is continue practicing the  physical exercise step (perhaps making it even more regular with doing something active EVERY day) but also adding another step (i.e. gratitudes, or random acts of kindness) to the mix.

As soon as this Shawn Anchor spoke of the random acts of kindness I immediately  thought of my good friend, Lea, who practices many of the steps already.

She’s been known to swing by my house (when we lived close (big sad face!)) and bring me a Starbucks (grande soy salted caramel mocha, no whip (ahem, there’s a reason my husband is concerned Claire might be high maintenance)) and a new pair of earrings, or I’d come out to my car from grocery shopping and there’d be a note on it saying she’d been at the bank and seen my car and just wanted to say hi or constantly paying for our big girl’s nights out (and not just me, but for all the girlfriends) and yes she’s got the bucks to do it, but she’s no millionaire and it’s that kind of random kindness that seems to give her her happiness advantage, but also makes the people around her happier too.

And I’d say, one of the biggest things I struggle with with my kids every day is trying to stay positive so that they’re positive.  If you’re a mom, you get it.  When I’m frustrated that Case is taking an inordinate amount of time to get out of his bed or get down the stairs, he senses my frustration and lack of patience and it makes it more difficult for him (not only is it hard to do that stuff but now Mom’s frustrated that I’m taking too long and I don’t want to do it anymore so I’m going to sit down and cry (I assume is what’s going on in his head)).

But I know that even if he were a normally developing kid I’d get frustrated with him (he is in his terrible twos!) and my lack of patience/frustration would have the same affect.  Both he and Claire are so attuned to my mood that it’s imperative I give myself the skills to not get so frustrated because at the end of the day I’m not the only one that’s affected by my unhappiness.  And especially for Case,  I believe when he feels like he’s got a momma who’s (more times than not) positively motivating him,  it really makes a difference is his progress.  For a kid who’s not self-motivating (yet!), my positive energy goes a long way.

So in order to ensure I keep this gig up (of being a positive force and source of motivation), I’m going to start writing down three things I’m grateful for each day (even if one of those things is my  grande soy salted caramel mocha, no whip) as well as practicing one random act of kindness (just like my friend, Lea) and emails to coworkers, as Shawn suggests, won’t do here as Case doesn’t check his email too frequently and Claire doesn’t even have a smart phone, pfff.

I’ll keep you posted.  Literally.

One more photo

I had to share this one last (auto setting) photo of Case at Bluebird Gap Farm (a free ‘zoo’) in Hampton, VA, just a few minutes from Brian’s parents house.   Brian and I  took Case and Claire there a couple of weekends ago (when it was actually really cold here in Virginia not like now when it’s 80 and sunny!).

You get what you pay for I guess (as the place wasn’t all that impressive, note I did not include a link to their website), but we did get to show Case a REAL cow, and sheep, and llama (not that we’re quizzing him on identification of llamas and their sounds these days, but the others we are) and so it was nice to be able to show him that those ‘things’ that we’re painstakingly making him identify over and over again in his books and puzzles actually do exist in real life.

He got a kick out of the goats especially and in the photo below he’s just been nibbled by the sheep behind him.

 

 

[Look at the happiness on his face in that photo.  If I could bottle up the joy he exudes I definitely would (mostly so I could give it back to myself when we’ve had a hard day or we’re practicing going up the stairs for the upteenth time!).]

 

My birthday present and a trip to the ER

As a birthday present to ‘me’, Brian did the research and bought us a new camera.  The kind where the lens’ cost more than the actual camera itself.  The fancy kind.  He bought a Canon Rebel T3i/EOS 600D with a really big hunkin’ lens.

We have been spoiled by our resident  (‘amateur’) photographer, Erin, my sister-in-law, who dubiously photographs all of us with her own fancy camera every time we see her for holidays or visits.   But we decided, especially after a particularly memorable trip to the swings, that we’d like to be able to capture those moments beautifully too (the ones in between visits with Erin!) and however handy the iPhone is and however remarkable the camera is, it’s really got nothing on our fancy one (although the fact that I would never refer to my iPhone as ‘hunkin’ makes it a tad bit easier to always have around, besides the fact that it’s like an extra limb and IS always around).

And you’d think that a post about getting a new camera would be filled with lots of lovely photos of all those most recent beautiful moments.  Well, below are a few but I’ve taken them by purely relying on all of this camera’s fancy Auto setttings that make it pretty much impossible to take a terrible photo, while I try to make the time to watch the dozens of video tutorials my husband has loaded onto my iPhone, iPad, and computer (he says, so if you have any spare moments you can just pull them up and watch them – ahem, he really does NOT understand what I consider ‘free’ time).

But, in his defense, I do want to learn about all of this cool new toy’s capabilities – because it has LOTS, and I can’t seem to find my way with just the 230 page manual (that I’ve been reading in my ‘free’ time).  Mostly because I really love looking back at them and knowing now that I’ll be able to capture the real joy (and fear) on Case’s face as he races around on the riding lawn-mower with his Papa or his Daddy, or capture Claire’s ear to ear grin and practically hear her belly laugh when her Aunt Erin throws her in the air, or see the love in the eyes of my Mom and Grandmother as they spend some rare quality time with their grandchildren/great-grandchildren. Being able to more accurately (and beautifully) capture all those moments makes watching those damn (dry) video tutorials worth it.

In the meantime, I’ll share some more dramatic photos that weren’t taken with the new camera.   Because when you’re headed to the ER holding an ice pack to a screaming two year old’s head so he doesn’t bleed everywhere, you’re not really thinking about grabbing that big ass new camera.  You’re mostly thinking,”self, please don’t pass out”.

Case (inevitably) fell on Monday night and split his head open.  He didn’t trip over anything (just his own feet, as per usual) and didn’t get his hands out in time (as per usual) and hit the the sharp part of the TV speaker on the floor (all of this right before bath time).  So after a whirlwind trip to the ER with me and Papa (Omi stayed home with Claire and Aunt Erin)he was back at home in bed by midnight with four stitches.

As you can imagine, Case gets a little worked up around anyone looking even remotely medical (especially after our big stay in the hospital in January and emergency ear tube surgery) so having company (in Papa) to help distract/restrain Case was really REALLY nice.   In general, Case was a good sport (saying hi to any and all of his fellow ER mates) and now he’s got his first of probably many scars!  Let’s hope his hairline doesn’t take after his father’s and we might be able to cover it for a while.

‘Til something else dramatic happens, or I get my act together and start actually planning my blog posts – may the luck of the Irish be with you!

He’s writing his own Case History

We met with Dr. Arthur Aylsworth (a Pediatric Geneticist at UNC) yesterday to discuss Case’s chromosomal abnormality and to find out the results of the genetic testing we (Brian and myself) had done.   As we expected, they couldn’t give us much information on Case because they don’t have any case studies identical to his to compare him to, however he did have blood drawn so that they could perform two more tests:

1.  Microarray – http://www.ncbi.nlm.nih.gov/About/primer/microarrays.html As of right now, we only know which bands on the 2nd chromosome are affected, the microarray will tell us what genes and are affected.  Mostly this test with give the researchers more to work with, and won’t likely give us more information (right now, at least).  By identifying the genes located within the duplicated regions, the analysis can offer insights into the potential effects on gene expression and function. From what I’ve read, some genes are dosage-sensitive, meaning that an abnormal number of copies (in this case – more) can lead to developmental or health issues. That being said, we’ll find out more I hope as we continue to be counseled and as I continue to do my own homework.

2.  DNA Methylation – http://www.google.com/url?sa=t&source=web&cd=1&ved=0CBMQFjAA&url=http%3A%2F%2Fwww.aruplab.com%2FTesting-Information%2Fresources%2FTechnicalBulletins%2Fprader_willi_sep04.pdf&rct=j&q=Test%20for%20Prader%20Willi&ei=A9DjTJr8LoSClAfC7ZC3DQ&usg=AFQjCNEhZ4WU2CGUvXjdsZdlTHrk-aIfHA&sig2=dXinnfkpJ7pgQM3dCVDdvA&cad=rja Quick primer: DNA methylation is an epigenetic (meaning changes to cells that don’t change the DNA itself) modification that involves the addition of a methyl group to the DNA molecule. This modification typically occurs at a specific part of the DNA sequence and is an essential mechanism for regulating gene expression. DNA methylation can affect the activity of genes by either promoting or inhibiting their Transcription.  From what I understand, Transcription is step one in converting our DNA into proteins and it’s where DNA gets copied into RNA (RNA is then decoded to make proteins – the building blocks of everything in our bodies – this is called Translation). This DNA Methylation test will give us more insight into whether Case potentially has something similar to Prader-Willi syndrome which a complex genetic disorder characterized by a range of physical, mental, and behavioral features (Case exhibits some of them). It is typically caused by the loss of function of specific genes on chromosome 15, and this loss of function is often associated with abnormal DNA methylation patterns in the affected chromosomal region.

And while Prader-Willi Syndrome is most associated with deletions on the 15th chromosome, our team is thinking that perhaps the generalized cytogenetic testing that Case had done may not be conclusive enough to rule this out. Hey, if we can rule stuff out, I’m all for it.

As far as Brian and I are concerned, our blood work came back normal.  Case’s chromosomal abnormality seems to  be newly-occuring (they call this: de novo), which Brian and I are relieved to hear.  It means that there’s a less than 1% chance that this could happen again if we get pregnant.

The genetic counselor that joined Dr. Aylsworth yesterday, Debra Keelean-Fuller, echoed him in saying that Case will be writing his own history with this, which is why we’re so open to have the testing and research done, not only for our sake but for everyone who may benefit from getting more information.  Case had his picture taken for an abstract that they’re going to start on him (just like the scary ones that I dug around to find online).  I’m not quite sure what I hope this poster will provide, but if nothing else, it will indicate that anyone looking for answers isn’t alone.

It will take a month to get the test results back from this latest round, so we’re thinking we’ll know some more just before Christmas.

Keep you all posted!

On a super positive note, Case ‘scooted’ yesterday to get a toy.  It was not coordinated in the slightest, but it was his first attempt and success at actual movement. Progress! 🙂

Click on Link Below to see one of the videos I captured:


http://www.facebook.com/v/676083007145

Case Study

Case during his ECG

Spreading the word on facebook and the blog leaves much to be desired, and yet here goes:

Yesterday we met with Dr. Sharon Cooper (http://bit.ly/aYEQAe), a Pediatric Development Specialist about Case’s delay in meeting his motor skill milestones.  As many of you know, Case was referred at his 4 month well-baby checkup to Early Intervention for his poor head control, developmental delay, and overall hypotonia (low muscle tone).  We have been meeting on a bi-weekly basis with the Early Intervention Program Manager, Kim Moser, part of the Pediatric Evaluation and Treatment Team at Womack (PETT) and have also been seeing a Physical Therapist (Michele Hurley of Move With Me Physical Therapy) on a weekly basis since late July. As many of you also know, we began our own versions of physical therapy with Case around 3 months when we (mostly me, the worry wart) initially thought something was up.

We had heard great things about Dr. Cooper prior to our appointment and were not disappointed.  Our appointment consisted of an in-depth q&a starting from my pregnancy until now where she typed up everything we said  (no pre-made forms here) and then took a long look at Case.  We, of course, came well-prepared with a typed list of concerns and questions that we shared with her just prior to the appointment.  She took the time to go through each of our questions, line by line.  The result?  She ordered an intense workup of diagnostic tests to eliminate any of the major concerns (neurological/metabolic disorders mostly).  After the appointment, Case and I headed down to Cardiology where Case received an ECG, then to the lab to draw blood for a comprehensive metabolic panel, high resolution chromosome analysis (one form of cytogenetic testing – that will take a month) and a basic CBC and Differential (complete blood count and white blood cell count).  She also ordered referrals to Audiology for a hearing test (hasn’t had one since birth) , Ophthalmology for a vision test (to assure that his optic discs are normal because of a little bit of delay in his visual tracking) and an MRI.  Finally, she got us an appointment at the Dermatology clinic at UNC Chapel Hill to get his eczema under control.

And now we wait…

In the meantime, I’m scheduling his MRI (for which he will need to be sedated – poor buddy), his hearing and vision tests, and the derm appointment and cracking the whip at home with round-the-clock PT (slave-driver is Brian’s new pet name for me…sweet, huh?).  We are grateful for all the prayers and warm wishes.  We definitely have a journey ahead of us.  Fortunately, we have a lot of motivation (duh!) and a ton of support.

Updates as we know more…