I’m a lucky girl

While I sit at my desk and work, I get to look up at pictures of my beautiful, amazing kids – and I don’t know how I got to be so lucky.  How are these possibly MY babies?  Not too long ago I was looking up at motivational pictures and phrases, begging me to hang on, not to give up my dream.  At home, in the middle of the chaos, and the diapers, and the tantrums, its easy to forgot to really stop and notice just how beautiful and amazing they are, and how lucky I am.

A photo is a snap shot in time, with out the pressures of living, and sometimes that’s what I need to remind me.  Our life hasn’t been easy, and I don’t expect it to ever be, that just seems to be who we are – and that is something beautiful in that imperfection – And when I have these nuggets to love on, how can I not feel anything less than the luckiest girl in the world.




So, safe to say, I suck at keeping up with this blog.  But I’m sure you get it-sometimes life just gets in the way, and things get pushed to the back burner, again, and again.

I was motivated to write this post though.  I know when I was going through our infertility journey my blog touched a few people, and in some small way helped them feel less alone.  Maybe I educated a few people as well.

I know how another cause to promote and educate on, and maybe a few people will read this post and feel less alone. 

As I may have mentioned in my earlier and rare posts, Harper has been developmentally behind for a few months.  In order to get her back on track, we started physical therapy with her, to work on her gross motor skills.  A few months passed, and she wasn’t making the progress we had hoped, so our pediatrician referred her to a neurologist, who ordered several tests, including an MRI and a microarray analysis of her chromosomes.

We fully expected all the tests to come back negative, as a large majority of kids with low muscle tone (which she has) has no medical diagnosis for it.  Her MRI did come back normal, as expected.

Her chromosome analysis however, showed a small deletion in the 18th chromosome. A little missing material.

This deletion and missing material indicates, and she has now been diagnosed with, Pitt Hopkins Syndrome. 

In a nutshell,  Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. It is characterized by significant developmental delay, problems with motor coordination and balance, breathing abnormalities, seizures and intellectual disability.  Most individuals with Pitt Hopkins do not develop functional speech.  Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling and laughter (which totally describes our sweet Harper!)

Since the gene that causes Pitt Hopkins was only found in 2007, currently there are only about 350 children worldwide diagnosed with this syndrome, however there are likely more, that are currently undiagnosed.

Going forward we are gong to continue with her physical therapy and occupational therapy, as well as speech therapy.  We are going to continue seeing her neurologist and will most likely start seeing a developmental pediatrician as well.  Our goal is to give our angel every possible advantage we can, so that she can reach her maximum potential.  We know that there is a reason she was given to us – and we are blessed that she is our daughter. 

A parent never expects that they will have a “special needs” child (nor does anyone expect it will take multiple rounds of IVF to conceive their children!)  You start off with this little squishy bundle and imagine how life will be, and the road they will travel.  All of a sudden, Harper’s road is starting to look a little bumpy, and much different than the one on the map in our heads.  Our challenge, as parents, is to accept this new road and embrace it.  It can’t be changed, but her journey can most certainly be affected by how we handle this, and how with determination and love, we do everything we can for her and with her.  And somehow, in learning how to navigate this, we also have to remember that Nolan, is no less “special” than his sister-they are just more unique they we ever realized!

If you want to learn anymore about this syndrome, here is a good website that has some great information.



2014-08-23 10.09.43 Processed with Moldiv


17 weeks


17 weeks today! I’m so close to being half baked!

We had our 16 week appointment with the perinatal doctor last week and everything is looking great! On Monday I had my first OB appointment-pretty standard, but it was nice to have an appointment with a regular OB, like a regular pregnant woman! Here are the babies at 16 weeks-pretty cute already:) Baby A is our little BOY and baby B is our little GIRL. Its starting to feel a little more real. I can not wait until I can feel them move!


Over the weekend we went up to Blue Ridge for a quick getaway. It was so nice to have a change of scenery! The cabin we rented was super nice and the dogs loved being able to run around in the woods. Here I am on the huge wrap around porch. I think the babies enjoyed their first trip:)


And, still, with my standard whine-I still feel nauseous-at least half of the day. Around 10am I start feeling rough, take my phenergan and then feel ok until around 3-4pm, when I've been feeling pretty sick until I go to bed. I know this is an improvement over when I used to feel so sick all day, but I was hoping that by now I’d be feeling good. I can only hope that will come soon, but I’m really afraid that I’m going to feel sick the entire pregnancy. God I hope not!

This week in the babies life:

Her rubbery cartilage is now turning to bone.
And she’s growing some meat on those bones — putting on some fat.
She’s growing a stronger, thicker umbilical cord, too