road trippin’

Lots going on in the medical part of our journey with Julianne.  Sometimes I feel like we’re on the road trip of a lifetime, you know, the kind that takes a lifetime. 😉  Because let’s be real.  Road trips aren’t always sunshine and daisies, but you can learn some good stuff when you’re stuck in an enclosed space with other people.  Stuff about them.  Stuff about yourself.

We are definitely learning more about her as we travel this road with her.  So much to love about her.  There is so much she is capable of, so much she wants to do, so much she still needs help with but doesn’t want to be helped.  She is Miss Independent; thinks she can steer the car all by her lonesome. 😉

We are learning more about ourselves, too.  How far we are willing to go to help her be successful (there is no distance we have found we wouldn’t travel with her).   How scary some things are when they are unfamiliar territory, but if we stick together and refuse to let Worry dictate what the map looks like, it’s all good.  We’re learning that sometimes the map takes a detour from the expected, and in those getting lost moments, we aren’t lost at all.

Dermatology  She had her 1 month visit with our dermatologist today after rolling over into the open-label part of the study she is in.  We know after our month with the confirmed “real deal” cream that the stuff we had for the previous 90 days was indeed the placebo.  There is a huge difference!  She still acquires wounds with the same frequency as any active child with EB, but they are healing faster, and her overall itchiness is decreased.

Genetic Testing I called today to find out the expense for the genetic testing required to find out exactly which type of EB she has.  This is information we would want to find out at some point anyways, and as her mama, I just want to know now.  Lots of people ask why we are finding out, or what the purpose is in knowing, and here is what I say:

A.  Every type/sub-type is different. She could have a less severe type (which is probable), or a less severe presentation of a more severe type (not unheard of).  We want to know which so that we are better prepared for her future and the knowledge about whether or not she will stay the same, clinically, improve over time perhaps, or if her skin will progressively be less healthy over time.

B.  For her knowledge.  As she is older and realizes how little we know about her family history, and any little bit of information may become precious to her.  We won’t force our knowledge on her, but if she asks and wants to know one day, we want to be able to talk about what we do know.

At this point, I plan to take her on Friday for a blood draw.  They will send that off and run a panel to find out the exact mutation she has and which type she has.   This test takes about 12 weeks to get results for.

Speech Therapy Lastly, today I called about having a speech evaluation done on her.  We knew based on her paperwork that she had some speech delays, but didn’t really worry about it much at the start because she was in the middle of learning a new language!  Now that we are past the year mark, it is clear that speech is something that she needs more that just my help to improve.  Making the call was difficult for me.  I hope that it’s the right time for her, that I haven’t wasted time while allowing her to acclimate emotionally to her new life.  Hoping to hear back fairly soon with insurance info on their end so we can go ahead and set up an evaluation.  I’m nervous about what I will hear after that evaluation.  I know worry does nothing good for the body or soul, but my mind is swirling with the possibility that she may have more work ahead of her than I realize.  It’s a little lot overwhelming.

Lots going on for this ridiculously cute, spunky girl of ours!

She says, “I ready!”, and I’m ready, too.

Julianne in the car blog

 

 

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