Anxiety

I haz it.

To be truthful, I’ve always had anxiety.  This is nothing new for me, but it is different now.  Having kids definitely kicked it up a notch.  Learning I have a special needs child kicked it up a few more.

There are days where I am just a mom, and we are just a family, like any other.  I don’t see (or at least don’t focus on) Harper’s delay’s, or therapy, or doctor’s appointments.  I love those days.  When my hands and heart are just full.

And then there are the days where I get stuck, where ALL I can think about are Harper’s therapies, and how much she isn’t progressing (even though she is, just at her own pace), and her future.  And I become so filled with anxiety, and so filled with fear I can’t think about anything else. I worry about Nolan-worried that because all my energy and focus is eaten up with worries for his sister, that I don’t have anything left in me to worry the normal worries for my boy. Along with all this comes the unpleasant feeling that I’m failing-that I’m not doing enough for either of them, if that’s even humanly possible.  Is your best really ever enough?

Sometimes I just let myself sit and stew in the anxiety, knowing its not permanent.  I let myself be angry and sad that my life has taken so many turns I never expected, that it has been so much more challenging.  Sad and angry that Harper’s future will be so different than I ever thought, and realizing that is a problem for me to deal with, because Harper’s future will be just what is should be. I know after I allow myself to wallow for a bit, I will have to put on my big girl pants, pull myself together and be the best mom I can (even if that’s not enough) for these two little people that God has entrusted to us.  I have to believe he gave them to us for a reason, because he knew it would give my life purpose, or because they would give someone else’s life purpose or maybe because I was the best person for the job for these two angels.  I don’ know why, but I have to believe the God does and that he is in control and that if Harper or I needs lifting up he will be there to do it.

I hope to wake up tomorrow, just a mom, embracing OUR normal.

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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.

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Mommy Friends

I made a new mommy friend last night – a very special mommy friend! Out of the 400 or so Pitt Hopkins cases world wide, we just so happen to have another family with a son with PTHS who lives just a few miles from us!
It is crazy how having something like this in common can make you feel instantly bonded. We met for drinks and I’m so happy we did – she is incredibly sweet, and has been dealing with this for longer than me so it was nice to hear her perspective. I’ll be honest, her son seems to be pretty low functioning and that scares me because I have such high hopes for Harper, but even with all their challenges, so seems to hold it together pretty well.
In Nolan news, he has started MMO one morning a week and it seems to be going well. I’m not there, so I don’t know exactly how he feels about it-but he doesn’t cry when we drop off-so that’s good:) My skinny mini is now into the 50-75 percentile for height, but poor kid is still <3% in weight. So, we're working on beefing the boy up-pediasure shakes, extra snacks, ect.
Eric and I are starting a small group tonight through our church – focused on marriage. I figured that will all the kid centered stuff going on in our lives, we needed some time to focus on us, and try something different than the standard date night.
Here are the kids at lunch-I LOURVE that my nanny sends me pics through out the day-its proof for me that they are happy and I'm not totally screwing them up by not staying home with them!
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Worst.Blogger.Ever

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.

http://pitthopkins.org

XOXO

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