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

2014-08-23 10.09.43 Processed with Moldiv

 

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2 Comments

  1. I just want to say that you are so brave for writing this in such a calm, accepting way. I don’t know if i could have kept your demeanor and i give you major credit. I also feel for you all, as my twins are the same age as yours and it just hits close to home. Harper, and Nolan as well, are so lucky to have you guys as parents – you will do everything you can for them to both reach their max potential. I will keep you all in my thoughts and hope you find strength. Harper is such a smiley, adorable little girl!

  2. I just wanted to make a quick comment. I ran across your blog a while ago (since our twins are close in age), and don’t think I have commented before. I just wanted to share what great parents you are to Harper, the perfect ones to help her in her life. She also has a built-in partner with Nolan too! Your babies are simply adorable and I just love the picture of them in the stroller together. I read a bit about this rare syndrome on the link you posted. Thank you for sharing and i hope you continue to educate us, and Harper continues to spread happiness all around her.

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