Another New Adventure

Alexi had an amazing week.  She got to do tons of shopping, eat lots of turkey and hang with all of her favorite people!

A few weeks back Alexi had a follow up with her cardiologist to check back in on her heart.  They found a pericardial effusion (fluid around her heart) back when she had her tummy surgery and wanted a follow up done a year later.  The echo showed that the effusion had gotten worse and had a second echo scheduled with her DS Clinic this week as well as labs scheduled for blood work.

Alexi had a great time visiting with Dr Vellody and Mrs. Sheila at the Down Syndrome clinic!  They spend so much time with her finding out how everything is going and making sure we are comfortable with her development and health.  They were super proud of her progress and we took our "heart tests" and left.



Dr. V. called us last night and let us know that the labs and echo had been read, although we hadn't been contacted by the cardiologist or any other Dr.s yet, he took the time to check her file, find the reports and call us to keep us in the loop.

It turns out the fluid build-up had not gotten any worse in the past couple weeks, but hasn't subsided at all either.  The blood work also confirmed some of his concerns that she could have Celiac Disease.  Alexi is growing wonderfully and LOVES some of the foods that are hurting her inside so we had no clue anything was going on in there.


This is gonna be tough.


For now we are keeping her on her regular diet, then a GI Dr will do a full scan to confirm exactly what's going on in there.  If they confirm it is definitely Celiac (sounds like the blood work all but confirmed it), we will then be meeting with a nutritionist to help formulate a new, life long, diet for her.


This is going to be a tough challenge for dad, I LOVE sharing all of the tastes I love with her.  It's amazing how open minded she is already and I couldn't help feel at first like she is getting ripped off here.  It's not fair that she can't have pizza anymore.  (not REAL pizza anymore, anyone who has had Fiori's pizza knows what I'm talkin about.)


I took last night to feel a bit sad for her, starred at her and talked to her once she fell asleep next to me on the couch watching Christmas movies, full of cookies and cheer.  Damn it.  No cookies any more?  That's her favorite reward after a long day of entertaining mom and dad and making strangers' days brighter.

She earns that cookie and asks for it clearly by name.  Gonna break my heart.  But last night, I stared at her, asleep on the couch, and talked to her.  At first it was pretty standard stuff I tell her while she's asleep, let her know how beautiful she is, how proud I am of her, and how lucky I am to have her.  And thank her for teaching me every day.  But tonight it felt different, I had such a heavy heart.  I found myself apologizing to her and expressing that it's not fair.  But somehow, just staring at her, I knew she was gonna tackle this change.  Looking at her I just knew she was gonna be ok, and she'd help dad learn, too.


We put her to bed and followed suit.  Today I awoke thankful.  She shows no symptoms of Celiac, not to us anyway, she is growing incredibly, and has had no tummy issues since her surgery.  She was just tested last year for it, too.  But thankfully the DS clinic insisted on testing again, and even before the tests Dr. V had a feeling she may have it.  It is great to have the support of the clinic.  We are thankful for the guidance they have provided thus far, and are confident they will help us continue down our new path if Celiac is confirmed.

I'd give more information of Celiac but have not done enough research yet to really give up much info.  Heck, for now we are SUPPOSED to continue on her normal diet, so that when the GI tests are done they can see HOW the glutens are effecting her.  So until those tests are scheduled, it's business as usual!  (With maybe and extra Fiori's trip or two.)

There's Magic Everywhere (Part II)

In case you missed "Part I," Alexi had a blast on her first couple days in Florida and really got the "rockstar treatment" from some of Universal Studios characters.

It went so well, in fact, that I didn't think anything the rest of the trip would chalk up to it, and that was fine with me.  If the rest of the trip was half as good as the beginning, it was still going to pan out to be the week of her life!

Sunday Alexi got to hang with her Great Aunt and Uncle for lunch and after spending Monday at the park, we took Tuesday off to visit with some more family.  Alexi got got to hang out with her Great Great Uncle and some cousins!  They drove down for dinner and Alexi just loved getting to spend some time with them.  Then Wednesday marked our first day at Disney!!

I'd like to point out that before going on this trip I thought Alexi was a bit young to really take it all in and enjoy it.  She loves going just about anywhere, so I thought it was going to be great, but a bit over her head.  Wouldn't ya know it, Dad was wayyyyy wrong again.  Magic Kingdom is when that really sank in.

At Universal, she had such a personal experience, I credited her great day more to a few specific people than the whole park.  When we went to Magic Kingdom, I knew it was a much bigger park, more crowded, and there was no way it would be as special to her as her first park.  Wrong again.  We rode "It's a Small World" first and she was in utter bliss.

Again with the shrieks and giggles and "Obwataayyyyys!" and "Ooo ahss its daaaaahssss!"  This continued with all the dancers and rides alike all day long.

She made a bunch of friends again with park staff and other park goers alike.  This girl just draws people to her, I love it!  Her pure excitement is both contagious and addictive, people could not get enough, and she was just eating it up.  At one point we entered one of the gift shops and whoa what a mistake, the smell of fresh made caramel covered popcorn mixed with a hint of cotton candy was too tempting.  So as I told Kerith to grab some of the popcorn she had been hinting at earlier, she pointed out that Alexi had never tried cotton candy.  Alexi was just hanging out in her stroller during this conversation and a woman who was stocking the cotton candy shelf had been admiring her just out of our view.  When she overheard that Alexi never had cotton candy before she barged in to our conversation, "What?!?"  "She has never had cotton candy?!"  "Well this is her very first cotton candy, and it's on the house," as she handed us a package.

Thinking back, it seems like such a small gesture, but she didn't have to do that, and it is just one more thing that helped make Alexi's first trip to Florida the best week of her life.


Later that night was the big parade.  I knew now that she was going to be excited, but she hadn't made any new character friends today like she made at Universal, so I didn't have any expectation of her stealing the show at all.  Guess what....

The last parade we saw was at 5pm, so well lit this time of year in Florida, this was an 8 o'clock parade, all dark out aside from the amazing Christmas lights and some street lamps.  There were thousands and thousands of people there, lining the dark streets at least 6 rows deep the whole parade route, on each side.

Mimi and Pap Pap scored some front row seating by skipping the last ride and heading over to main street.  We were next to another nice family with all of the kids a bit older, maybe early teens.  The older man next to me couldn't help but notice Alexi's excitement, or the fact that I was trying to capture some of it on video.  She was looking more toward him as he was to the side where the action was coming from, so he offered for me to switch seats with him.  I gladly accepted and got some of her excitement to remember forever.

I spent pretty much the entire parade staring through the camera straight at Alexi, well that and staring at her without the camera.  Either way, I have seen plenty of parades and enjoy them, but the unadulterated joy pouring from her is just to contagious and addictive to look anywhere else.  As it turns out, despite the dark night and thousands upon thousands of people jam packed into a 10 ft sidewalk on either side of the road, I wasn't the only one to notice her.

At the end of the parade everyone from Mom to Uncle Brett to others nearby had a different story to tell about how "Cinderella's mouth fell open when she saw Alexi, and she stopped waving to people to grab prince charming to point her out, and say "look how cute she is."  Or how "those dancers just couldn't stop staring at her" or "the step sister grabbed another step sister and said, "Look how excited that girl is!"

I thanked the guy who offered his seat with his family to me, so that I could catch some of her joy on video and I'll never forget his reply.  He simply said "No, thank you.  Thank you for giving me the chance to watch her smile."  He put his hand on my shoulder and said "And yours, too."  I guess I was kinda of enjoying myself a bit, too. 

At the end of this parade, I am fairly certain she thinks that parades are put on directly for her.  The performers at both parks do a great job of making it feel personal for all of the kids, but I swear Alexi's experience was like none other I've seen. 

There's more to come, but she's up from her nap so it's time to play for a bit before mommy gets home!

There's Magic Everywhere (Vacation Part I)

I've started this post at least a dozen times so far, and to be honest, I'm too overwhelmed to find the right words.  The second I start thinking about where to start I am bombarded with memories, of some of the greatest moments of my life.

Oh man...it just happened again.  OK here goes:

Our first "park day" was spent at Universal Studios.  I've got a secret, I think that's my favorite park ever.  I just love being in the middle of "sets" everywhere you turn.  I could spend a day just doing photo shoots with Alexi in the alleys.  Dang it, back on topic!  Alexi.  She was so excited, literally all day long there were shrieks of pure joy coming from the stroller, up on my shoulders, where ever she was.

Mom and I went to ride a ride Alexi couldn't go on, so she hung out with her Mimi and Pap Pap.  Somewhere along the way they found a street performance by Dora and friends.  Alexi is not shy about her love for music and dancing and by the end of their performance, the characters literally lined up to meet Alexi.  That's when mom and dad found her.  Alexi sitting in her stroller, with a line of characters (including Dora) waiting for their turn to meet Alexi.  One of the "flower dancers" who met Alexi just couldn't leave her, after the other characters got their turn, she come back to Alexi and hung out with her until Dora's team had to leave.

It was amazing, and Alexi was in heaven.  We went and enjoyed more of the park, including some rides, and then found another street performance.  Alexi loves to dance in her seat but hasn't ever been able to balance while standing unassisted to stand and dance.  Until now.  She got so excited by these dancers that she made me put her down and stood right up, started walking and dancing to the music, even getting her feet in on the dancing!!  I don't even remember what this one was, but again, she caught the attention of a few performers and again, one in particular couldn't leave her.  This awesome dancer kept encouraging Alexi to dance with her and just had to get some hugs in once the dance was over. 

 The show was over and they had to move on, so back to some park fun we go!  I am not mentioning much of the fun she had exploring and riding rides, but she LOVED it all, I am just trying to keep this as short as possible.  Which is proving to be pretty difficult.

Later that day we scooped up a nice section of curb and planted down for the parade.  I can't begin to explain how awesome the shrieks of joy are that come out of this little girl!  I'm sure you other parents know what I'm talking about, but it's by far the best feeling on earth to hear this raw excitement pour out of her.  Her made up words make it even better, "Staywbwoo!!!"  "HIYA!!!"  "Istiabwoooo!!"  I wish I could get them right, but I'm sure I have butchered them.

To put it simply, she loved the parade.  Then, the Dora float came by, with her flower dancers.  One flower dancers in particular looked like she about melted when she saw Alexi.  Yup, it was her friend from earlier.  These performers meet hundreds of kids a day and then see thousands of them during the parade.  She managed to spot Alexi.  They have dance numbers where the parade stops and the dancers interact with the kids along the road, this was not one of those times.  The parade kept moving, but Alexi's friend just had to come say hi, so she broke formation and came over to say hi to Alexi!  Alexi was a rockstar for a day.  Or so we thought.

To be continued...

Dun dun DUUNNNNNNN!!!!!  (Cheesy, but I figured I'd space out the week a bit, or it would be a pretty lengthy post..)

Anyone get nervous for tests in school??

   I don't know about any of you, but I know I got nervous before a big test in school.  Walking in the room my heart would kind of race a bit, then I'd find my seat and settle in, the the teacher would explain the test a bit and I'd realize it's not at all what I expected.  Did I study the right thing?  My heart's racing again.  I knew I shouldn't have skimmed through that chapter.  My palms are getting sweaty.  If I fail I am going to disappoint my parents so bad.

   Well now we're the parents and Alexi is the one taking the test, so thank goodness we don't have to get nervous like that again!  Yeah now someone is just coming into our house and telling us how our kid compares to national standards for typically developing kids her age.  Thank goodness there's no reason to be nervous.  They'll just come in, test her, because at two years old she's definitely going to cooperate, and tell us how she stacks up.  Proving whether or not our hard work is "paying off."  Or if we are working hard enough.  Who said we were experts on this and needed our parenting evaluated?  I don't remember going to school for this.  I didn't grow up in a house with anyone who had special needs, who do "they" think they are coming in to my house and telling me if I am failing my daughter miserably or not???  I didn't get to study for this, it just happened to me!!

  Ok, so maybe I'm exaggerating a bit, but the point is, it can feel kind of weird having a professional come into your home and evaluate how your kid is developing.  It happens pretty often in our home and to be honest we're glad for it.  We genuinely could care less how Alexi compares to typically developing kiddos her age, if it wasn't so vital in helping build our ever changing strategy for helping her.  These kinds of tests can help us work harder on some areas and sometimes, they can be a real confidence booster that the hard work is paying off.

  We've been kinda sure for a while that Alexi was doing well with her speech and communication, as well as her problem solving.  Today Alexi was evaluated using the DAYC (Developmental Assessment of Young Children) test and she was on fire!

  We knew she's been struggling a bit in gross motor, and working real hard to catch up.  Testing says:  Alexi has lots more work to do there, but is closing the gap!  Being 10 weeks early may have made that gap a bit on the large side, but I am confident that we can close it up with some more hard work.

   I love talking about our working with her as hard work.  Man does it make us sound crazy dedicated and like she's in bootcamp or something.  The truth is our "hard work" is playing, structured playing with strategic plans, but we're all having fun when we're "working hard."  The biggest problem we have lately is Alexi.  She has caught on, we used to be able to mask it all as playing, but now she knows when we are "tricking her" into working a specific skill.  And if she is not in the mood she lets us know it!  She will refuse to do things she has mastered and enjoys purely out of spite, which is actually kind of cool, as that shows intelligence.

  Ohh intelligence reminds me, I was kind of typing about this so I could brag a bit!  Sure gross motor needs more work, she's got lots of time for that, so I'm cool with it.  What was awesome about today's test was that it kind of put down on paper where she stands on some areas we thought were going well but didn't really know how well.  She only missed 2 marks on the whole social test and 3 on the cognitive part.  I can't remember exactly how many she missed on the communication part but she did awesome.  These are the areas that have always been high on our priority list, so this was GREATLY reassuring to us.  After doing all of these "extra things" with her ever since she came home from the hospital, it feels like a big old pat on the back to hear that we're preparing her well for her future, which is certainly motivating to keep pushing, keep learning, and continue teaching her everything we can.  After all as parents (of ANY child) that is our job, right?

  Now I know I don't get a chance to update nearly as much as I used to, but that doesn't mean our mission has changed at all.  We appreciate everyone who "keeps up" with Alexi and hope to continue to spread awareness that having a child with a disability like Down Syndrome is not the end of the world, but is the beginning of an amazing journey.  One we sure didn't expect but are glad to be on.  So thanks for "watching" and once this summer cools off and work slows down, we'll probably get a little better at keeping you posted! 








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How lucky am I

I woke up to plow some snow just before 2:00 this morning.  Plowed hard and fast to try and get done so I could spend some time playin with Alexi today.  I plowed 10 parking lots in 5 hours, for those who don't know snow removal, that's pretty darn good if I do say so myself!  Then the wheels fell off my truck.

You read that right, the 2 dually wheels (rear wheels) on the driver's side, just plain fell off the truck in a parking lot right as I finished plowing and salting it.  Sheared the wheel studs clean off.  Took it "with a grain of salt" or with 2 tons of rock salt I still had loaded in my bed, and thought well my day sure wont get any worse, time to get it fixed.

I called my lovely wife and had her come to rescue me.  She called back.  She started the car, but the keys are now locked in it, while it's running.  Great.  Luckily I was waiting for her in the only place that was open near by, Giant Eagle (our 24hr grocery store) and ran into our neighbor.  She offered me her truck for the day as long as I returned it by 2:30 for her to go home from work.  "No problem!"

So I drove home and busted out my MacGyver breaking into cars kit (cuz we all have one of those!)  Turns out, a few screw drivers, a coat hanger and a (possibly antique) spanish fencing sword later...the car is in some sort of anti-theft mode and the door unlock buttons inside the car are disengaged!  Awesome, so we call AAA to come break in, and the car runs out of fuel while we're calling.  So we order 1 "lockout service" with 3 complimentary gallons of fuel (included in our membership.)  At least it's all gonna get better from here. 

 An hour goes by and the AAA guy shows up and unlocks the car!  Things are starting to turn!  "Fuel?  I don't carry fuel in this truck."  Oh fiddlesticks. (not the actual word choice I had in mind.)  Now we place another call to AAA and they send the same guy back, in the same truck, but with fuel this time....2 hours later.  Awesome.  In the mean time a good friend had picked me up the wheel studs I needed and we loaded up my neighbors truck with tools and went to fix the dump.

Kerith calls, and informs me that the car died about 300 feet from home.  Turns out it was never out of fuel, but the alternator went while it was warming up in the first place.  Yippy!  Okay, I promise this will get better.

So another neighbor who we've never met stops and jumps Kerith's car, which gives her just enough juice to get it back home.  *whew*  Her and Alexi are home safe.

At this point I have started fixing my truck, but realize that when you order wheel studs, they don't come with the lug nuts which are kind of necessary to hold the wheels on.  So my brother comes to the rescue this time and is able to bring me the lug nuts.  I go to put the wheels on the newly fastened wheel studs, and the 3 ton jack doesn't lift my dump truck loaded with 2 tons of salt high enough.  I look to my buddy who came to help out in the first place, hand him a big pipe, and say "you're not gonna believe what I'm gonna ask you to do."

He looks a bit stunned and explains that he really hopes we aren't thinking the same thing.  But I politely asked if he could lift my dumptruck up with that bar.  Time for a math break.  We have a 9,500 lb truck, with a 2,500 lb plow on it, and a 600 lb salter.  That's 12,600 lbs.  Then we have 2 tons of salt in the bed, so add another 4k and we have 16,600 lbs of truck.  Sure it's got 3 points of contact on the ground, but that's alot of weight for a 3 ton jack and 1 guy to lift.  Sure enough, it worked.  Got the wheels on just in time for my bro to show up with the lug nuts and got it all bolted back together.

Came home.

Got cleaned up.

Picked up Alexi and sat on the couch and asked Kerith what kind of "junk" I could have for dinner.  She knew I meant I wanted something unhealthy and good.  In between Alexi's high pitched squeals of laughter, I could hear the voice of an angle reply,  "chilidogs."

I am the luckiest man alive.

Instantly I felt lucky to be me, I have some incredible neighbors, even better friends, and family that makes anything the world throws my way go away with just a few moments of laughter, and some sweet sweet words of comfort. 

(Photo courtesy of post plowing nap time yesterday.)

PS  I finished fixing the truck at 2:07 and handed my neighbor her keys at 2:12.  Had 18 minutes to spare!!!

PPS  I couldn't help but think, quite a few times, why me? what did I do to deserve all this today?  Once I got home I knew, I didn't do anything to "deserve it," I'm just better prepared to deal with it!   I mean not everyone has the little "extra something" I have in my life that can completely distract me from even the most hectic of days!  "Got 47?"  You can't see it, but that's what Alexi's sweatshirt says.  (Thanks Gina!!)

So why bore you with all of this?  Well sorry if I did!  But I had a point, it's kind of the point of this whole "Designer Genes" blog.  The reason I started sharing our lives was to show anyone wanted to see, that raising a child with DS is not only something that shouldn't be feared, but it rocks!  This was a crappy day to say the least, but my daughter, Alexi, was the BRIGHT (and you know I mean really super awesome bright because it's in all caps) shining light at the end of the tunnel, that makes any care in the world all but disappear. Oh, and she has Down Syndrome.