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Tuesday, July 21, 2015

Getting the Genetic Test Results Back

8 weeks ago, I held my screaming son down on a table as two lab techs drew a vial of his blood.  Per his geneticist, we were having him tested for a newly found connective tissue disorder called Loey's Dietz Syndrome along with an array of other connective tissue disorders.  Everything fit and the diagnosis would explain everything that's gone wrong since his birth.

Today, I received a call from Little Dude's genetic counselor with the results of the test.  I held my breath, knowing that no matter what the result was, I would be crying as soon as I hung up the phone.  Crying from relief that we had an answer and sorrow that my son had a genetic syndrome. Or crying from relief that he didn't have a connective tissue disorder and disappointment because we still wouldn't have an answer.  Either way, I knew it would be bittersweet.

The results were negative.

The geneticist didn't recommend any other testing at this time, but wanted to continue to follow Little Dude clinically.  And that was it.   I hung up the phone and cried alone out in the garage where the kids couldn't follow me.

We've spent most of Little Dude's life waiting for the results of different genetic tests he's had done, all with negative results.  This time though, we thought we might finally have an answer, a name to put to whatever it is that has wreaked havoc in my precious baby boy's body.  We thought that the uncertainty of his future would be replaced by certainty or at least become a little more clear. 

I used Facebook to write a targeted update to the family and close friends who have been waiting for results right along with us.  For them, negative tests results are a reason to rejoice, and understandably so.  But for me, it means something different.  It means that that heavy suitcase of wondering, waiting and wishing for an answer, the suitcase that I was hoping to finally set down, is still mine to carry.  And now, I have to carry it farther than I thought I would.

Right now, Little Dude is doing amazingly well.  Developmentally, he's at about a 10-11 month level and is making progress.  He's 100% orally fed and only uses his G Tube for his meds in the morning and evening.  Due to slow weight gain and some weight loss, we've added a can of Pediasure to his diet each day and that has been helping.  He's been fairly healthy with only several minor colds and a couple of ear infections over the last few months.  He's outgrowing his tracheomalacia, his heart is healthy and he will probably outgrow his murmur on his own, and his GERD seems to be under control.  He hasn't needed a nebtreatment in a while and hasn't had pneumonia for about 6 months now.  He's a happy little boy who brings me so much joy that I just can't stop myself from scooping him up and squeezing him somtimes.

So where do we go from here?  Well, we keep treating symptoms and hopefully, we'll see Little Dude continue to improve.  And maybe someday in the future, we'll have an answer, but that day is not today. 

I'm going to leave you with a picture I took of Little Dude last night because...well, it's cute :)

Tuesday, July 14, 2015

I'm Still Here!

I haven't blogged in a month and a half, I missed Little Dude's 15 and 16 month updates, and I haven't even started adding all of my new products to my Etsy shop. 

The reason for my absence?


Do you remember the summer bucket list I wrote?  I've been focusing on enjoying my children instead of constantly worrying about the things on my to-do list.  I've semi-unplugged, evidenced by the lack of activity on my blog.  You can still see updates on my family on Instagram though!  It's been a good summer-the first good one in three years.  

Here are some updates on the family...

Princess: She's been reading like crazy which is awesome to see since she struggled so much with it during the school year.  She's in the lead for her age group in the summer reading program at the library.  She also just learned how to ride her bike without training wheels.  It took her about 5 minutes to figure it out after the training wheels came off. 

Little Man: He loves riding his bike too although he's not quite ready to lose the training wheels yet.  He's already got a farmer's tan and jumps at the chance to go farming with Daddy.  He's starting to figure out how to sound words out and asks me almost everyday if he can go to school yet.  He's very excited to start kindergarten in the fall!

Star: This kid...she's the cutest, most angelic looking child with her blonde ringlets and big blue eyes.  Don't let that fool you.  She's a firecracker who never stops moving.  She refuses to go potty on the big potty and won't give up her diapers.  She LOVES playing outside and is pretty good about following the rules.  Her favorite activity is swinging.  She's still only 24 pounds at 2 years, 10 months old and we're trying to put some weight on her, but she's just a tiny little thing. 

Little Dude: He's been so active that I think that's part of the reason why he has been having problems gaining weight lately.  He learned how to pull himself up to standing when he was 15 1/2 months old and learned how to crawl on his hands and knees the day he turned 16 months old.  He's had a few small colds and fevers, but nothing serious.  He can drink out of sippy cups, but because he hasn't figure out how to tip a cup up yet, he uses straw sippy cups.  He's officially done with bottles and hasn't needed a tube feeding since March 28th!  He only had two doctor appointments during the whole month of June and one this month so far.  It feels so strange not to spend half our time at the clinic and hospital!

Hubby: Nothing really to report here.  Farm, work, sleep, eat.  That pretty much sums it up :)

Me: I've been having fun coming up with new applique designs for my Etsy shop and designing fabric for my Spoonflower shop.  Other than that, I've been chilling with the kids, keeping up with housework (never-ending!), and hanging out with other mom friends.      

And of course, a few random pictures to round out this post...     

Princess learned how to weave potholders on her little loom.

60 mL syringes (leftover from Little Dude's tube feeding supplies) make great water guns!

Precious little baby feet

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